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
ASIC1_chr12_50052596_50088611	50069256	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01515.hp2 HG02109.hp2 others(11): Show HG00621.hp2 HG01515.hp2 HG02109.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG04115.hp2 NA18522.hp2 NA18965.hp1 NA19056.hp2 NA19063.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0041 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0095 a0001c0001t0002g0147 a0001c0004t0001g0052 a0001c0004t0001g0120 a0001c0004t0001g0121	14	324	0.0432	8	c.559 others(25): Show c.559-7926_559-7919dupTATTTATT	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50074860	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18943.hp1 NA18975.hp2 others(3): Show HG02071.hp2 NA18943.hp1 NA18975.hp2 NA18981.hp1 NA19004.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0154 others(1): Show a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0154 a0001c0002t0002g0170	6	324	0.0185	8	c.559 others(25): Show c.559-2313_559-2306dupGTGTGTGT	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC2_chr17_33008087_33298295	33082701	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01192.hp2 others(11): Show HG01069.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG02015.hp1 HG02080.hp2 HG02896.hp1 HG03098.hp2 HG03130.hp1 HG03471.hp2 HG03669.hp2 HG04184.hp1 NA18983.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(8): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0035 a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0031	a0001c0001t0004g0040 a0001c0001t0007g0237 a0001c0001t0007g0239 others(11): Show a0001c0001t0004g0040 a0001c0001t0007g0237 a0001c0001t0007g0239 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0035g0226 a0001c0002t0001g0124 a0001c0002t0005g0103 a0001c0004t0001g0160 a0001c0004t0002g0163 a0002c0003t0001g0209 a0002c0003t0001g0215 a0002c0003t0002g0194 a0002c0003t0031g0222	14	240	0.0583	8	c.987 others(25): Show c.987+6154_987+6161dupATTTATTT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33141078	C C	CTAGGGGC others(1): Show CTAGGGGCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02258.hp2 others(4): Show HG01884.hp1 HG02109.hp1 HG02258.hp2 HG02976.hp1 HG03453.hp1 HG03471.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0002t0002 a0001c0002t0032 others(3): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0032 a0001c0004t0001 a0001c0004t0016 a0002c0003t0005	a0001c0001t0004g0040 a0001c0002t0002g0100 a0001c0002t0002g0139 others(4): Show a0001c0001t0004g0040 a0001c0002t0002g0100 a0001c0002t0002g0139 a0001c0002t0032g0223 a0001c0004t0001g0149 a0001c0004t0016g0148 a0002c0003t0005g0221	7	240	0.0292	8	c.709 others(27): Show c.709-29019_709-29012dupAGCCCCTA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269613	C C	CCCTTCCT others(1): Show CCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01074.hp1 others(33): Show HG00280.hp1 HG00733.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01891.hp1 HG02027.hp2 HG02080.hp2 HG02258.hp2 HG02602.hp1 HG02622.hp2 HG02738.hp2 HG02965.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp1 NA18945.hp1 NA18960.hp1 NA18964.hp2 NA18983.hp2 NA18990.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0033 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0028 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0010 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0010 a0002c0003t0017 a0002c0003t0018 a0002c0003t0030	a0001c0001t0003g0024 a0001c0001t0003g0066 a0001c0001t0003g0068 others(33): Show a0001c0001t0003g0024 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0004g0040 a0001c0001t0004g0067 a0001c0001t0004g0080 a0001c0001t0007g0227 a0001c0001t0007g0236 a0001c0001t0014g0046 a0001c0001t0014g0047 a0001c0001t0033g0238 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0115 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0005g0108 a0001c0002t0008g0106 a0001c0002t0015g0087 a0001c0002t0028g0105 a0001c0004t0001g0160 a0001c0004t0002g0156 a0001c0004t0005g0146 a0001c0004t0010g0145 a0002c0003t0001g0209 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0002g0179 a0002c0003t0002g0194 a0002c0003t0002g0204 a0002c0003t0005g0184 a0002c0003t0005g0205 a0002c0003t0010g0207 a0002c0003t0017g0206 a0002c0003t0018g0203 a0002c0003t0030g0220	36	240	0.1500	8	c.708 others(27): Show c.708+21787_708+21794dupAAGGAAGG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269751	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02145.hp2 others(6): Show HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02622.hp1 HG02896.hp2 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0002t0017 a0001c0004t0002 a0001c0004t0010	a0001c0001t0004g0071 a0001c0002t0002g0095 a0001c0002t0002g0099 others(6): Show a0001c0001t0004g0071 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0005g0094 a0001c0002t0005g0096 a0001c0002t0017g0109 a0001c0004t0002g0150 a0001c0004t0010g0151	9	240	0.0375	8	c.708 others(27): Show c.708+21649_708+21656dupGGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33282479	G G	GTGTGTGC others(1): Show GTGTGTGCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp2 HG01515.hp2 others(3): Show HG01074.hp1 HG01358.hp2 HG01515.hp2 HG01943.hp2 HG02818.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(2): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0016	a0002c0003t0001g0181 a0002c0003t0002g0213 a0002c0003t0005g0182 others(3): Show a0002c0003t0001g0181 a0002c0003t0002g0213 a0002c0003t0005g0182 a0002c0003t0005g0184 a0002c0003t0008g0183 a0002c0003t0016g0177	6	240	0.0250	8	c.708 others(25): Show c.708+8928_708+8929insAGCACACA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33297823	A A	AAAATAAA others(1): Show AAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG02109.hp2 HG02723.hp1 others(7): Show HG01071.hp2 HG02109.hp2 HG02723.hp1 HG02896.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 NA18906.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0035 a0001c0002t0017 a0001c0004t0001	a0001c0001t0003g0044 a0001c0001t0003g0066 a0001c0001t0003g0068 others(7): Show a0001c0001t0003g0044 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0004g0029 a0001c0001t0004g0062 a0001c0001t0006g0057 a0001c0001t0007g0228 a0001c0001t0035g0226 a0001c0002t0017g0109 a0001c0004t0001g0153	10	240	0.0417	8	c.-57 others(19): Show c.-5716_-5709dupATTTATTT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding		4529		chr17	TogoVar
ASIC4_chr2_219509482_219543772	219534764	G G	GCCATCCA others(1): Show GCCATCCAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03516.hp1 HG03579.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp1	a0002 a0002	a0002c0007 a0002c0032 a0002c0007 a0002c0032	a0002c0007t0001 a0002c0032t0006 a0002c0007t0001 a0002c0032t0006	a0002c0007t0001g0037 a0002c0032t0006g0105 a0002c0007t0001g0037 a0002c0032t0006g0105	3	372	0.0081	8	c.107 others(25): Show c.1076-366_1076-359dupCCATCCAT	ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASL_chr7_66070819_66098576	66087243	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02615.hp2 NA18954.hp2 others(2): Show HG00438.hp1 HG02615.hp2 NA18954.hp2 NA18973.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0009t0001g0047	5	316	0.0158	8	c.603 others(21): Show c.603-58_603-51dupGTGTGTGT	ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASMTL_chrX_1398139_1457909	1405287	G G	GATGGATG others(1): Show GATGGATGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG06807.hp2 HG02922.hp1 HG03195.hp1 HG06807.hp2	a0002 a0005 a0013 a0002 a0005 a0013	a0002c0014 a0005c0027 a0013c0036 a0002c0014 a0005c0027 a0013c0036	a0002c0014t0001 a0005c0027t0001 a0013c0036t0001 a0002c0014t0001 a0005c0027t0001 a0013c0036t0001	a0002c0014t0001g0177 a0005c0027t0001g0175 a0013c0036t0001g0147 a0002c0014t0001g0177 a0005c0027t0001g0175 a0013c0036t0001g0147	3	185	0.0162	8	c.164 others(27): Show c.1646-1806_1646-1799dupACATCCAT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1405335	G G	GTGGATGG others(1): Show GTGGATGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0147 a0013c0036t0001g0147	1	185	0.0054	8	c.164 others(27): Show c.1646-1854_1646-1847dupTCCATCCA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1406323	A A	AGATGAAT others(1): Show AGATGAATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0147 a0013c0036t0001g0147	1	185	0.0054	8	c.164 others(27): Show c.1646-2835_1646-2834insCATTCATC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1407803	T T	TAAGGAAG others(1): Show TAAGGAAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0147 a0013c0036t0001g0147	1	185	0.0054	8	c.164 others(27): Show c.1646-4315_1646-4314insCCTTCCTT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1428646	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp1 HG00733.hp2 HG01361.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0096 a0002c0004t0001g0124 a0002c0004t0001g0096 a0002c0004t0001g0124	2	185	0.0108	8	c.510 others(23): Show c.510-533_510-526dupATTTATTT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1613176	C C	CTTCTTTC others(1): Show CTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01517.hp2 HG01993.hp2 others(2): Show HG00741.hp1 HG01517.hp2 HG01993.hp2 HG02559.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0158 a0001c0001t0002g0200 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0158 a0001c0001t0002g0200 a0001c0001t0002g0218 a0002c0002t0002g0191	5	223	0.0224	8	c.-20 others(19): Show c.-2024_-2023insTTCTTTCT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1882		chrX	TogoVar
ASMT_chrX_1610059_1648081	1625954	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp2 HG02109.hp1 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0001 a0003c0009t0001 a0002c0002t0001 a0003c0009t0001	a0002c0002t0001g0208 a0003c0009t0001g0011 a0002c0002t0001g0208 a0003c0009t0001g0011	2	223	0.0090	8	c.374 others(25): Show c.374+1568_374+1575dupAAAAAAAA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1630871	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02683.hp2 HG02922.hp1 HG02280.hp1 HG02683.hp2 HG02922.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0005 a0009c0014 a0002c0002 a0003c0005 a0009c0014	a0002c0002t0001 a0003c0005t0001 a0009c0014t0002 a0002c0002t0001 a0003c0005t0001 a0009c0014t0002	a0002c0002t0001g0020 a0003c0005t0001g0202 a0009c0014t0002g0075 a0002c0002t0001g0020 a0003c0005t0001g0202 a0009c0014t0002g0075	3	223	0.0135	8	c.562 others(23): Show c.562+953_562+960dupTTTATTTA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1635861	T T	TCAAACAA others(1): Show TCAAACAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA21309.hp2 HG02109.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0118 a0001c0003t0001g0171 a0001c0001t0001g0118 a0001c0003t0001g0171	2	223	0.0090	8	c.788 others(23): Show c.788-564_788-557dupCAAACAAA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1644219	T T	TTATTATT others(1): Show TTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	223	0.0045	8	c.12 others(19): Show c.1205_*1206insTATTATTA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		1139		chrX	TogoVar
ASNS_chr7_97846677_97877408	97868519	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00639.hp2 others(73): Show HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01257.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02109.hp1 HG02155.hp1 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA19003.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0005c0009 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0003 a0001c0004t0003 a0001c0004t0006 a0005c0009t0003 a0006c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0003g0010 a0001c0001t0003g0053 a0001c0001t0003g0062 a0001c0001t0003g0074 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0004g0111 a0001c0001t0005g0021 a0001c0001t0005g0073 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0003t0003g0014 a0001c0003t0003g0174 a0001c0004t0003g0055 a0001c0004t0006g0054 a0005c0009t0003g0171 a0006c0010t0001g0204	76	436	0.1743	8	c.249 others(23): Show c.249+381_249+388dupCACACACA	ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12			chr7	TogoVar
ASPA_chr17_3470997_3508405	3487073	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(131): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03688.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0031 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0003t0002 a0003c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0172 a0001c0001t0003g0018 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0073 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0003g0309 a0001c0001t0004g0064 a0001c0001t0004g0105 a0001c0001t0004g0111 a0001c0001t0005g0068 a0001c0001t0005g0110 a0001c0001t0006g0139 a0001c0001t0007g0095 a0001c0001t0008g0028 a0001c0001t0008g0171 a0001c0001t0008g0173 a0001c0001t0011g0027 a0001c0001t0011g0140 a0001c0001t0014g0141 a0001c0001t0018g0001 a0001c0001t0022g0089 a0001c0001t0024g0106 a0001c0001t0031g0103 a0001c0001t0035g0144 a0001c0001t0038g0108 a0001c0001t0041g0020 a0001c0001t0042g0101 a0001c0001t0044g0052 a0001c0001t0047g0088 a0001c0001t0049g0059 a0001c0001t0050g0027 a0001c0001t0053g0174 a0001c0001t0054g0065 a0001c0002t0002g0058 a0001c0002t0002g0113 a0001c0002t0002g0117 a0001c0002t0005g0019 a0001c0002t0005g0063 a0001c0002t0005g0074 a0001c0002t0005g0077 a0001c0002t0005g0078 a0001c0002t0005g0085 a0001c0002t0005g0096 a0001c0002t0005g0170 a0001c0002t0006g0112 a0001c0002t0007g0138 a0001c0002t0008g0137 a0001c0003t0002g0022 a0001c0003t0002g0127 a0003c0005t0002g0076	134	450	0.2978	8	c.527 others(25): Show c.527-2156_527-2149dupTGTGTGTG	ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ASPDH_chr19_50506603_50518913	50507046	T T	TCAACCAC others(1): Show TCAACCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02145.hp2 HG03471.hp2 others(1): Show HG01261.hp1 HG02145.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	4	372	0.0108	8	c.46 others(19): Show c.4676_*4683dupGGTGGTTG	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding		4556		chr19	TogoVar
ASPDH_chr19_50506603_50518913	50510051	C C	CAAAAAAA others(1): Show CAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02970.hp1 others(5): Show HG02055.hp1 HG02486.hp1 HG02970.hp1 HG03017.hp1 HG06807.hp1 NA18522.hp2 NA19055.hp1 NA19077.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0007c0007	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0003c0003t0001g0005 a0004c0004t0001g0010 a0007c0007t0001g0020	8	372	0.0215	8	c.16 others(19): Show c.1671_*1678dupTTTTTTTT	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding		1551		chr19	TogoVar
ASPHD2_chr22_26424260_26450015	26438494	C C	CATACATA others(1): Show CATACATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02056.hp1 HG04184.hp2 others(15): Show HG00609.hp2 HG02056.hp1 HG04184.hp2 NA18942.hp2 NA18951.hp2 NA18956.hp1 NA18967.hp1 NA18975.hp2 NA18995.hp1 NA19002.hp2 NA19054.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0010 a0001c0001t0006g0047 a0001c0001t0006g0048 others(7): Show a0001c0001t0006g0010 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0069 a0001c0001t0006g0142 a0001c0001t0006g0144 a0001c0001t0006g0153 a0001c0001t0006g0192 a0001c0001t0022g0068 a0001c0001t0022g0143	18	428	0.0421	8	c.887 others(25): Show c.887-3964_887-3963insTACATATA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26438578	T T	TACACATA others(1): Show TACACATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01081.hp1 others(56): Show HG00544.hp1 HG00673.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02056.hp2 HG02129.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02698.hp1 HG02922.hp2 HG02976.hp1 HG03239.hp2 HG03490.hp2 HG03540.hp2 HG03831.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp2 NA18948.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18973.hp1 NA18977.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19072.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0041 a0001c0001t0042	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0165 a0001c0001t0008g0003 a0001c0001t0008g0022 a0001c0001t0012g0020 a0001c0001t0015g0021 a0001c0001t0041g0121 a0001c0001t0042g0003	59	428	0.1379	8	c.887 others(25): Show c.887-3880_887-3879insCACATACA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26438642	T T	TACACATA others(1): Show TACACATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp1 others(6): Show HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02717.hp2 HG02896.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0015 a0001c0001t0003g0032 a0001c0001t0003g0149 others(1): Show a0001c0001t0003g0015 a0001c0001t0003g0032 a0001c0001t0003g0149 a0001c0001t0013g0015	9	428	0.0210	8	c.887 others(25): Show c.887-3816_887-3815insCACATACA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPHD2_chr22_26424260_26450015	26443634	A A	AAAAAAAC others(1): Show AAAAAAACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01167.hp2 others(3): Show HG00741.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG03453.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0023 a0001c0002t0034 a0001c0001t0018 a0001c0001t0023 a0001c0002t0034	a0001c0001t0018g0035 a0001c0001t0023g0016 a0001c0001t0023g0164 others(1): Show a0001c0001t0018g0035 a0001c0001t0023g0016 a0001c0001t0023g0164 a0001c0002t0034g0088	6	428	0.0140	8	c.43 others(17): Show c.431_*432insAAACTAAA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	4/4	432	INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPH_chr8_61495556_61719592	61550442	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp2 HG01243.hp2 others(4): Show HG00741.hp2 HG01167.hp2 HG01243.hp2 HG02258.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0178 a0001c0001t0004g0219 a0001c0001t0004g0220 others(4): Show a0001c0001t0001g0178 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0252 a0001c0001t0011g0250 a0001c0001t0011g0251 a0001c0001t0015g0009	7	258	0.0271	8	c.162 others(27): Show c.1627-2242_1627-2235dupGTGTGTGT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	20/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61561128	G G	GAGGAAGG others(1): Show GAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp2 HG01261.hp1 others(10): Show HG00558.hp2 HG01099.hp2 HG01261.hp1 HG02129.hp1 HG02145.hp2 HG03041.hp2 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18612.hp2 NA18940.hp1 NA18983.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0023	a0001c0001t0001g0089 a0001c0001t0005g0076 a0001c0001t0005g0080 others(10): Show a0001c0001t0001g0089 a0001c0001t0005g0076 a0001c0001t0005g0080 a0001c0001t0005g0141 a0001c0001t0005g0171 a0001c0001t0006g0027 a0001c0001t0006g0109 a0001c0001t0006g0133 a0001c0001t0008g0207 a0001c0001t0008g0237 a0001c0001t0011g0218 a0001c0001t0018g0010 a0001c0001t0023g0137	13	258	0.0504	8	c.143 others(27): Show c.1437+1615_1437+1616insTCCTTCCT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61561132	G G	GAGGAAGG others(1): Show GAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp1 NA18906.hp1 HG03453.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0031 a0001c0001t0001g0190 a0001c0001t0005g0181 a0001c0001t0001g0031 a0001c0001t0001g0190 a0001c0001t0005g0181	3	258	0.0116	8	c.143 others(27): Show c.1437+1611_1437+1612insTCCTTCCT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASPH_chr8_61495556_61719592	61562389	C C	CTCTGTGT others(1): Show CTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01358.hp2 others(6): Show HG01074.hp1 HG01123.hp2 HG01358.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02148.hp2 HG02895.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0007 a0001c0006t0014 a0001c0001t0001 a0001c0001t0007 a0001c0006t0014	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0105 others(6): Show a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0007g0179 a0001c0006t0014g0004	9	258	0.0349	8	c.143 others(25): Show c.1437+354_1437+355insCACACAGA	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASRGL1_chr11_62332448_62398412	62362813	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03453.hp1 HG03486.hp1 others(3): Show HG02602.hp2 HG03453.hp1 HG03486.hp1 NA18957.hp2 NA19064.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0026 a0001c0001t0039	a0001c0001t0001g0045 a0001c0001t0013g0049 a0001c0001t0013g0062 others(3): Show a0001c0001t0001g0045 a0001c0001t0013g0049 a0001c0001t0013g0062 a0001c0001t0013g0063 a0001c0001t0026g0132 a0001c0001t0039g0342	6	370	0.0162	8	c.491 others(25): Show c.491+5693_491+5700dupCACACACA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01168.hp2 HG01169.hp1 others(8): Show HG00621.hp1 HG01168.hp2 HG01169.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp2 HG02738.hp1 HG02738.hp2 NA18994.hp1 NA19068.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0002t0003	a0001c0001t0002g0190 a0001c0001t0002g0231 a0001c0001t0002g0232 others(8): Show a0001c0001t0002g0190 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0003g0133 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0008g0328 a0001c0001t0009g0347 a0001c0001t0011g0138 a0001c0001t0015g0135 a0001c0002t0003g0298	11	370	0.0297	8	c.492 others(27): Show c.492-13659_492-13652dupATATATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASS1_chr9_130439961_130506274	130448422	G G	GCGCACAC others(1): Show GCGCACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02071.hp2 NA18950.hp2 others(2): Show HG00738.hp2 HG02071.hp2 NA18950.hp2 NA19043.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 others(2): Show a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0002t0001g0113 a0001c0003t0001g0309	5	374	0.0134	8	c.-6+ others(23): Show c.-6+3428_-6+3429insGCACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130484799	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02970.hp2 others(1): Show HG02145.hp2 HG02615.hp2 HG02970.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0194 a0001c0001t0001g0334	4	374	0.0107	8	c.838 others(25): Show c.838+4374_838+4381dupACACACAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495470	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02083.hp1 NA18966.hp2 HG01346.hp1 HG02083.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0242 a0001c0001t0001g0299 a0001c0001t0001g0022 a0001c0001t0001g0242 a0001c0001t0001g0299	3	374	0.0080	8	c.112 others(25): Show c.1127+448_1127+449insCACACACA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495472	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02080.hp1 HG02145.hp1 others(5): Show HG01981.hp1 HG02080.hp1 HG02145.hp1 HG02486.hp2 HG02922.hp2 HG04184.hp2 NA18522.hp2 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0259 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0358 a0002c0004t0001g0012 a0002c0004t0001g0310	8	374	0.0214	8	c.112 others(25): Show c.1127+471_1127+478dupCACACACA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130495500	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp2 HG02027.hp2 others(1): Show HG01346.hp2 HG01358.hp2 HG02027.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0145 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0145 a0001c0001t0001g0217 a0001c0001t0001g0249	4	374	0.0107	8	c.112 others(25): Show c.1127+478_1127+479insCACACATA	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176908132	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp2 NA18522.hp1 others(2): Show HG03098.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0001t0002 a0001c0002t0002 a0001c0003t0002	a0001c0001t0002g0012 a0001c0002t0002g0032 a0001c0003t0002g0064 others(2): Show a0001c0001t0002g0012 a0001c0002t0002g0032 a0001c0003t0002g0064 a0001c0003t0002g0079 a0001c0003t0002g0081	5	112	0.0446	8	c.267 others(29): Show c.2672-13310_2672-13303dupGTGTGTGT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176942866	A A	ATATATAT others(1): Show ATATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01993.hp1 others(4): Show HG00408.hp1 HG00639.hp1 HG01993.hp1 HG02486.hp1 HG02886.hp1 HG02896.hp1 NA18960.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0010 a0004c0015	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0004t0003 a0003c0010t0006 a0004c0015t0001	a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0002t0001g0029 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0002t0001g0029 a0001c0003t0001g0109 a0002c0004t0003g0060 a0003c0010t0006g0106 a0004c0015t0001g0052	7	112	0.0625	8	c.237 others(27): Show c.2377+1024_2377+1025insAATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177033123	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG03130.hp1 others(5): Show HG02886.hp2 HG02895.hp1 HG03130.hp1 NA18952.hp1 NA18974.hp1 NA19062.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 a0001c0012t0004 a0002c0004t0003 a0002c0007t0001	a0001c0001t0001g0026 a0001c0002t0002g0019 a0001c0002t0002g0070 others(5): Show a0001c0001t0001g0026 a0001c0002t0002g0019 a0001c0002t0002g0070 a0001c0002t0002g0084 a0001c0006t0001g0063 a0001c0012t0004g0010 a0002c0004t0003g0065 a0002c0007t0001g0011	8	112	0.0714	8	c.472 others(23): Show c.472-282_472-275dupCACACACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	2/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177114420	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01993.hp2 HG01255.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0110 a0001c0001t0001g0112	2	112	0.0179	8	c.283 others(27): Show c.283+49966_283+49973dupATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177115655	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG01070.hp1 others(22): Show HG00639.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG02145.hp1 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18960.hp1 NA18974.hp2 NA19062.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012 a0002c0004 a0002c0011 a0003c0010 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0010 a0001c0012t0004 a0002c0004t0003 a0002c0011t0009 a0003c0010t0006 a0004c0015t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 others(22): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0002t0001g0008 a0001c0002t0001g0029 a0001c0002t0002g0019 a0001c0002t0002g0084 a0001c0002t0007g0069 a0001c0002t0011g0009 a0001c0002t0014g0004 a0001c0002t0020g0007 a0001c0003t0001g0002 a0001c0003t0002g0036 a0001c0003t0002g0067 a0001c0006t0001g0063 a0001c0006t0010g0027 a0001c0012t0004g0010 a0002c0004t0003g0103 a0002c0011t0009g0003 a0003c0010t0006g0030 a0004c0015t0001g0052	25	112	0.2232	8	c.283 others(27): Show c.283+48731_283+48738dupATTTATTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177121083	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp2 HG02647.hp1 others(4): Show HG01346.hp1 HG02109.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0008	a0001c0001t0007 a0001c0002t0001 a0001c0002t0011 others(3): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0011 a0001c0002t0020 a0001c0009t0004 a0002c0008t0001	a0001c0001t0007g0099 a0001c0002t0001g0008 a0001c0002t0011g0009 others(4): Show a0001c0001t0007g0099 a0001c0002t0001g0008 a0001c0002t0011g0009 a0001c0002t0020g0007 a0001c0009t0004g0005 a0001c0009t0004g0006 a0002c0008t0001g0098	7	112	0.0625	8	c.283 others(27): Show c.283+43303_283+43310dupATATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177168236	A A	AACATCTA others(1): Show AACATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01070.hp1 others(32): Show HG00408.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01346.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03579.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18952.hp2 NA18974.hp1 NA18981.hp1 NA19062.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0012 a0002c0007 a0002c0008 a0002c0011 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0006t0010 a0001c0009t0004 a0001c0009t0005 a0001c0012t0004 a0002c0007t0001 a0002c0008t0003 a0002c0011t0001 a0002c0011t0009 a0003c0010t0006	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(32): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0033 a0001c0001t0017g0022 a0001c0002t0001g0008 a0001c0002t0001g0029 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0032 a0001c0002t0007g0020 a0001c0002t0011g0009 a0001c0002t0014g0004 a0001c0002t0020g0007 a0001c0003t0001g0002 a0001c0003t0001g0034 a0001c0003t0002g0018 a0001c0003t0002g0036 a0001c0006t0010g0027 a0001c0009t0004g0005 a0001c0009t0004g0006 a0001c0009t0004g0024 a0001c0009t0005g0025 a0001c0012t0004g0010 a0002c0007t0001g0011 a0002c0008t0003g0017 a0002c0011t0001g0015 a0002c0011t0009g0003 a0003c0010t0006g0030 a0003c0010t0006g0031	35	112	0.3125	8	c.-35 others(19): Show c.-3561_-3560insGTAGATGT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding		3525		chr1	TogoVar
ASTN2_chr9_116418112_117420057	116521809	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02922.hp1 NA19043.hp1 others(1): Show HG01261.hp1 HG02922.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 others(1): Show a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084	4	102	0.0392	8	c.335 others(29): Show c.3356-34317_3356-34310dupGTTTGTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565351	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA21309.hp1 NA18906.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0006 a0002c0004t0006 a0001c0003t0006 a0002c0004t0006	a0001c0003t0006g0017 a0002c0004t0006g0003 a0001c0003t0006g0017 a0002c0004t0006g0003	2	102	0.0196	8	c.335 others(29): Show c.3355+52965_3355+52972dupGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565387	C C	CTCTCTAT others(1): Show CTCTCTATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG04199.hp2 HG01258.hp2 HG04199.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0020 a0001c0002 a0006c0020	a0001c0002t0001 a0006c0020t0001 a0001c0002t0001 a0006c0020t0001	a0001c0002t0001g0067 a0006c0020t0001g0039 a0001c0002t0001g0067 a0006c0020t0001g0039	2	102	0.0196	8	c.335 others(29): Show c.3355+52936_3355+52937insTATAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565427	A A	ATATTTAT others(1): Show ATATTTATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18959.hp2 HG02451.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0028 a0001c0002t0003g0021 a0001c0001t0001g0028 a0001c0002t0003g0021	2	102	0.0196	8	c.335 others(29): Show c.3355+52889_3355+52896dupAATAAATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar

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