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
AGO4_chr1_35803016_35862890	35818650	AAAGAAAG others(5): Show AAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19074.hp2 NA21309.hp2 HG03491.hp2 NA19074.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0078 a0001c0001t0002g0118 a0001c0001t0004g0053 a0001c0001t0002g0078 a0001c0001t0002g0118 a0001c0001t0004g0053	3	270	0.0111	-12	c.185 others(29): Show c.185+1611_185+1622delAAAGGAAGAAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35818658	AAAGGAAG others(5): Show AAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01928.hp1 HG02896.hp2 others(3): Show HG01884.hp2 HG01928.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0023 a0001c0002t0001 a0001c0001t0001 a0001c0001t0023 a0001c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0023g0063 a0001c0002t0001g0241	6	270	0.0222	-12	c.185 others(29): Show c.185+1619_185+1630delAAAGGAAGGAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35841811	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp1 HG06807.hp1 HG02145.hp2 HG02818.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0028 a0001c0001t0015 a0001c0001t0028	a0001c0001t0015g0073 a0001c0001t0015g0074 a0001c0001t0028g0072 a0001c0001t0015g0073 a0001c0001t0015g0074 a0001c0001t0028g0072	3	270	0.0111	-12	c.217 others(27): Show c.2175+77_2175+88delTATATATATATA	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35858440	CTATATTT others(5): Show CTATATTTATTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	270	0.0037	-12	c.48 others(23): Show c.4836_*4847delTATATTTATTTA	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding		551		chr1	TogoVar
AGO4_chr1_35803016_35862890	35858442	ATATTTAT others(5): Show ATATTTATTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01884.hp2 HG02486.hp2 others(5): Show HG01074.hp2 HG01884.hp2 HG02486.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(5): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0134 a0001c0002t0001g0187 a0001c0002t0001g0234	8	270	0.0296	-12	c.48 others(23): Show c.4838_*4849delTATTTATTTATT	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding		553		chr1	TogoVar
AGPAT3_chr21_43860223_43992592	43905155	ATATTTAT others(5): Show ATATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp1 HG01069.hp1 others(59): Show HG00544.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01257.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18966.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18983.hp2 NA18985.hp1 NA18998.hp1 NA19005.hp2 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0024 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0056 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0081 a0001c0004t0002	a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0310 others(58): Show a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0310 a0001c0001t0002g0132 a0001c0001t0002g0171 a0001c0001t0002g0296 a0001c0001t0002g0307 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0003g0002 a0001c0001t0003g0080 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0161 a0001c0001t0003g0167 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0319 a0001c0001t0004g0010 a0001c0001t0004g0340 a0001c0001t0005g0082 a0001c0001t0005g0086 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0111 a0001c0001t0006g0074 a0001c0001t0007g0122 a0001c0001t0010g0110 a0001c0001t0024g0106 a0001c0001t0024g0107 a0001c0001t0034g0105 a0001c0001t0035g0303 a0001c0001t0038g0109 a0001c0001t0039g0102 a0001c0001t0040g0007 a0001c0001t0042g0092 a0001c0001t0043g0103 a0001c0001t0044g0093 a0001c0001t0046g0133 a0001c0001t0056g0141 a0001c0001t0068g0013 a0001c0001t0069g0301 a0001c0001t0070g0134 a0001c0001t0081g0136 a0001c0004t0002g0138	62	342	0.1813	-12	c.-49 others(29): Show c.-49+1178_-49+1189delATTTATTTATTT	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43926636	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02818.hp2 others(1): Show HG01243.hp2 HG02055.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0032 a0001c0001t0019 a0001c0001t0032	a0001c0001t0019g0323 a0001c0001t0019g0330 a0001c0001t0032g0324 others(1): Show a0001c0001t0019g0323 a0001c0001t0019g0330 a0001c0001t0032g0324 a0001c0001t0032g0325	4	342	0.0117	-12	c.-49 others(31): Show c.-49+22635_-49+22646delTTTTTTTTTTTT	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43990906	CACATATA others(5): Show CACATATATACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG03579.hp2 others(2): Show HG02055.hp2 HG02280.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0024 a0001c0001t0034 a0001c0001t0043 others(1): Show a0001c0001t0024 a0001c0001t0034 a0001c0001t0043 a0001c0008t0071	a0001c0001t0024g0106 a0001c0001t0024g0107 a0001c0001t0034g0105 others(2): Show a0001c0001t0024g0106 a0001c0001t0024g0107 a0001c0001t0034g0105 a0001c0001t0043g0103 a0001c0008t0071g0068	5	342	0.0146	-12	c.85 others(23): Show c.8515_*8526delACATATATACAT	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		3315		chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43990937	GTGTATGT others(5): Show GTGTATGTATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0158 a0001c0001t0008g0158	1	342	0.0029	-12	c.85 others(23): Show c.8546_*8557delTGTATGTATGTA	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		3346		chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43990978	TATATATA others(5): Show TATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0220 a0001c0001t0052g0220	1	342	0.0029	-12	c.85 others(23): Show c.8587_*8598delATATATATATAA	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		3387		chr21	TogoVar
AGPAT4_chr6_161124967_161279061	161170469	GCGCGCAC others(5): Show GCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01257.hp2 others(19): Show HG00741.hp2 HG01069.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01934.hp1 HG02258.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03942.hp1 HG04199.hp1 NA18948.hp1 NA18956.hp2 NA18974.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 a0001c0001t0041 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0076	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0006g0037 others(18): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0006g0037 a0001c0001t0006g0043 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0009g0001 a0001c0001t0009g0017 a0001c0001t0009g0098 a0001c0001t0009g0168 a0001c0001t0009g0254 a0001c0001t0009g0255 a0001c0001t0018g0135 a0001c0001t0018g0193 a0001c0001t0018g0194 a0001c0001t0018g0198 a0001c0001t0041g0136 a0001c0001t0057g0171 a0001c0001t0058g0032 a0001c0001t0059g0156 a0001c0001t0076g0166	22	264	0.0833	-12	c.179 others(29): Show c.179-4064_179-4053delTGTGTGTGCGCG	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219868	TAGATAGG others(5): Show TAGATAGGCAGGC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0050 a0001c0002t0023g0050	1	264	0.0038	-12	c.178 others(31): Show c.178+12156_178+12167delGCCTGCCTATCT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219872	TAGGCAGG others(5): Show TAGGCAGGCAGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG03195.hp1 others(2): Show HG00099.hp1 HG01175.hp1 HG03195.hp1 HG03579.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0041 a0001c0001t0065	a0001c0001t0003g0039 a0001c0001t0009g0129 a0001c0001t0012g0167 others(2): Show a0001c0001t0003g0039 a0001c0001t0009g0129 a0001c0001t0012g0167 a0001c0001t0041g0136 a0001c0001t0065g0116	5	264	0.0189	-12	c.178 others(31): Show c.178+12152_178+12163delGCCTGCCTGCCT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219908	CAGGCAGG others(5): Show CAGGCAGGCGGCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0197 a0001c0001t0047g0197	1	264	0.0038	-12	c.178 others(31): Show c.178+12116_178+12127delTGCCGCCTGCCT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161233109	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp1 HG01516.hp1 others(14): Show HG00544.hp2 HG01123.hp1 HG01516.hp1 HG02027.hp2 HG02040.hp1 HG02717.hp1 HG02717.hp2 HG03471.hp1 NA18947.hp2 NA18951.hp2 NA18955.hp1 NA18974.hp2 NA18985.hp2 NA18994.hp1 NA19007.hp2 NA19065.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0042 a0001c0001t0043 a0001c0002t0004 a0001c0002t0023 a0001c0002t0031 a0001c0002t0039 a0001c0002t0073 a0001c0005t0056	a0001c0001t0003g0107 a0001c0001t0005g0133 a0001c0001t0006g0061 others(14): Show a0001c0001t0003g0107 a0001c0001t0005g0133 a0001c0001t0006g0061 a0001c0001t0008g0092 a0001c0001t0042g0161 a0001c0001t0043g0031 a0001c0002t0004g0034 a0001c0002t0004g0042 a0001c0002t0004g0060 a0001c0002t0004g0062 a0001c0002t0004g0083 a0001c0002t0023g0050 a0001c0002t0031g0204 a0001c0002t0031g0205 a0001c0002t0039g0119 a0001c0002t0073g0059 a0001c0005t0056g0011	17	264	0.0644	-12	c.-89 others(27): Show c.-89-819_-89-808delTGTGTGTGTGTG	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161240221	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp2 HG02027.hp2 others(18): Show HG01934.hp1 HG01978.hp2 HG02027.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA18947.hp2 NA18951.hp2 NA19007.hp2 NA19030.hp1 NA19065.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(11): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0037 a0001c0001t0038 a0001c0001t0047 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0080 a0001c0002t0004 a0001c0002t0073	a0001c0001t0006g0061 a0001c0001t0006g0226 a0001c0001t0008g0210 others(18): Show a0001c0001t0006g0061 a0001c0001t0006g0226 a0001c0001t0008g0210 a0001c0001t0010g0251 a0001c0001t0015g0211 a0001c0001t0015g0212 a0001c0001t0018g0193 a0001c0001t0018g0194 a0001c0001t0018g0198 a0001c0001t0037g0213 a0001c0001t0038g0209 a0001c0001t0047g0197 a0001c0001t0054g0252 a0001c0001t0057g0171 a0001c0001t0058g0032 a0001c0001t0080g0196 a0001c0002t0004g0034 a0001c0002t0004g0042 a0001c0002t0004g0060 a0001c0002t0004g0062 a0001c0002t0073g0059	21	264	0.0796	-12	c.-89 others(29): Show c.-89-7931_-89-7920delGTGTGTGTGTGT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGPAT5_chr8_6703642_6766503	6707320	AATATATA others(5): Show AATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01993.hp2 HG02257.hp1 others(1): Show HG01074.hp2 HG01993.hp2 HG02257.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0003g0006 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0003g0006 a0001c0001t0003g0113	4	404	0.0099	-12	c.-13 others(23): Show c.-1348_-1337delATATATATATAT	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding		1321		chr8	TogoVar
AGPS_chr2_177387773_177548834	177444617	TTTTTGTA others(5): Show TTTTTGTATTGTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(228): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0002t0004 a0001c0002t0009 a0001c0002t0013 a0001c0002t0034 a0001c0002t0048 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 others(228): Show a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0252 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0202 a0001c0001t0002g0249 a0001c0001t0004g0093 a0001c0001t0005g0104 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0073 a0001c0001t0006g0082 a0001c0001t0007g0034 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0077 a0001c0001t0007g0083 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0009g0091 a0001c0001t0009g0146 a0001c0001t0009g0155 a0001c0001t0009g0162 a0001c0001t0010g0123 a0001c0001t0010g0147 a0001c0001t0010g0170 a0001c0001t0010g0205 a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016 a0001c0001t0013g0018 a0001c0001t0013g0188 a0001c0001t0014g0020 a0001c0001t0014g0021 a0001c0001t0014g0022 a0001c0001t0016g0212 a0001c0001t0016g0213 a0001c0001t0016g0214 a0001c0001t0017g0207 a0001c0001t0017g0208 a0001c0001t0018g0215 a0001c0001t0018g0221 a0001c0001t0019g0113 a0001c0001t0019g0114 a0001c0001t0020g0126 a0001c0001t0020g0196 a0001c0001t0021g0027 a0001c0001t0021g0028 a0001c0001t0022g0134 a0001c0001t0022g0135 a0001c0001t0023g0074 a0001c0001t0023g0075 a0001c0001t0024g0098 a0001c0001t0024g0174 a0001c0001t0025g0253 a0001c0001t0025g0254 a0001c0001t0029g0166 a0001c0001t0032g0210 a0001c0001t0033g0195 a0001c0001t0035g0017 a0001c0001t0036g0046 a0001c0001t0037g0019 a0001c0001t0038g0181 a0001c0001t0039g0164 a0001c0001t0040g0040 a0001c0001t0041g0099 a0001c0001t0042g0148 a0001c0001t0043g0143 a0001c0001t0044g0149 a0001c0001t0045g0038 a0001c0001t0046g0209 a0001c0001t0047g0150 a0001c0001t0049g0001 a0001c0001t0050g0001 a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0009g0204 a0001c0002t0013g0206 a0001c0002t0034g0211 a0001c0002t0048g0008 a0001c0003t0001g0255 a0001c0003t0005g0256 a0001c0003t0005g0257	231	258	0.8954	-12	c.790 others(27): Show c.790-917_790-906delATTTTGTATTGT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177470714	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp1 HG03195.hp1 HG02886.hp2 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0046 a0001c0001t0017 a0001c0001t0046	a0001c0001t0017g0207 a0001c0001t0017g0208 a0001c0001t0046g0209 a0001c0001t0017g0207 a0001c0001t0017g0208 a0001c0001t0046g0209	3	258	0.0116	-12	c.110 others(31): Show c.1105+2201_1105+2212delAGAAAAAAAAAA	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGR3_chr7_16854412_16886983	16883337	CCCTTCCT others(5): Show CCCTTCCTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG03041.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18946.hp2 NA18968.hp1 NA18968.hp2 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19009.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp1 NA19068.hp2 NA19076.hp2 NA19078.hp1 NA19082.hp1 NA19088.hp2 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0025 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0009 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0153 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0130 a0001c0001t0003g0226 a0001c0002t0001g0059 a0001c0002t0002g0032	82	458	0.1790	-12	c.-14 others(23): Show c.-1433_-1422delAAGAGAGGAAGG	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding		1355		chr7	TogoVar
AGRN_chr1_1015120_1061116	1048767	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	210	0.0048	-12	c.410 others(27): Show c.4106-89_4106-78delAAAAAAAAAAAA	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	23/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGTPBP1_chr9_85541539_85746954	85572004	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02027.hp2 HG02615.hp1 others(4): Show HG01123.hp2 HG02027.hp2 HG02615.hp1 HG02683.hp1 HG03453.hp1 HG03486.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0002t0003	a0001c0001t0001g0097 a0001c0001t0002g0178 a0001c0001t0002g0206 others(4): Show a0001c0001t0001g0097 a0001c0001t0002g0178 a0001c0001t0002g0206 a0001c0001t0002g0225 a0001c0001t0007g0300 a0001c0001t0009g0137 a0001c0002t0003g0291	7	302	0.0232	-12	c.350 others(31): Show c.3503+3299_3503+3310delAAAAAAAAAAAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85599110	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA21309.hp2 HG01243.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0259 a0001c0001t0002g0217 a0001c0001t0002g0259	2	302	0.0066	-12	c.233 others(31): Show c.2336-2673_2336-2662delGTGTGTGTGTGT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	17/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85630461	CGATTGAT others(5): Show CGATTGATTGATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00738.hp2 others(10): Show HG00099.hp1 HG00639.hp2 HG00738.hp2 HG01256.hp1 HG02559.hp1 HG02622.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0002g0161 a0001c0001t0002g0208 a0001c0001t0002g0240 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0005g0270 a0001c0001t0005g0271	13	302	0.0431	-12	c.201 others(31): Show c.2015+2189_2015+2200delAATCAATCAATC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85668967	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG03516.hp2 others(1): Show HG02280.hp2 HG02486.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0002g0162 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0002g0162 a0001c0001t0002g0167	4	302	0.0133	-12	c.662 others(27): Show c.662+506_662+517delCACACACACACA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	8/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85682172	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02630.hp2 HG02647.hp2 others(1): Show HG00735.hp2 HG02630.hp2 HG02647.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0147 a0001c0002t0003g0290 a0001c0002t0003g0291 others(1): Show a0001c0002t0001g0147 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292	4	302	0.0133	-12	c.158 others(27): Show c.158-849_158-838delTTTTTTTTTTTT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85698679	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0297	1	302	0.0033	-12	c.33- others(27): Show c.33-5878_33-5867delAAAAAAAAAAAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	2/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85728030	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02451.hp1 others(2): Show HG01243.hp1 HG01891.hp1 HG02451.hp1 HG02818.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	5	302	0.0166	-12	c.-34 others(31): Show c.-34+13733_-34+13744delGTGTGTGTGTGT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	1/25			chr9	TogoVar
AGXT2_chr5_34993102_35052949	35011915	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	384	0.0026	-12	c.118 others(31): Show c.1188+1027_1188+1038delGTGTGTGTGTGT	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	11/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35023861	ATATTTAT others(5): Show ATATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0008 a0010c0010t0003g0008	2	384	0.0052	-12	c.963 others(29): Show c.963+1890_963+1901delAATAAATAAATA	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	9/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35028558	TGAGAGAG others(5): Show TGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00673.hp1 others(28): Show HG00099.hp1 HG00544.hp2 HG00673.hp1 HG00735.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG03130.hp2 HG03486.hp2 NA18939.hp1 NA18944.hp2 NA18951.hp1 NA18990.hp2 NA18994.hp2 NA19011.hp2 NA19064.hp1 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA19087.hp1	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0014 a0015 a0016 a0021	a0001c0001 a0003c0006 a0003c0012 others(11): Show a0001c0001 a0003c0006 a0003c0012 a0004c0004 a0005c0005 a0006c0007 a0007c0009 a0007c0018 a0008c0008 a0012c0013 a0014c0016 a0015c0017 a0016c0019 a0021c0026	a0001c0001t0001 a0001c0001t0004 a0003c0006t0002 others(14): Show a0001c0001t0001 a0001c0001t0004 a0003c0006t0002 a0003c0012t0002 a0004c0004t0001 a0004c0004t0004 a0005c0005t0002 a0006c0007t0001 a0007c0009t0002 a0007c0018t0002 a0008c0008t0001 a0008c0008t0004 a0012c0013t0002 a0014c0016t0005 a0015c0017t0003 a0016c0019t0004 a0021c0026t0003	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0185 others(27): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0252 a0001c0001t0004g0136 a0001c0001t0004g0192 a0001c0001t0004g0366 a0003c0006t0002g0009 a0003c0012t0002g0117 a0004c0004t0001g0235 a0004c0004t0001g0308 a0004c0004t0001g0315 a0004c0004t0004g0309 a0005c0005t0002g0257 a0005c0005t0002g0261 a0005c0005t0002g0265 a0005c0005t0002g0283 a0005c0005t0002g0307 a0006c0007t0001g0017 a0007c0009t0002g0176 a0007c0018t0002g0168 a0008c0008t0001g0270 a0008c0008t0004g0337 a0012c0013t0002g0264 a0012c0013t0002g0331 a0014c0016t0005g0248 a0015c0017t0003g0353 a0016c0019t0004g0188 a0021c0026t0003g0182	31	384	0.0807	-12	c.770 others(29): Show c.770-2060_770-2049delTCTCTCTCTCTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35031943	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0003 a0019c0027t0003	a0019c0027t0003g0180 a0019c0027t0003g0180	1	384	0.0026	-12	c.769 others(27): Show c.769+777_769+788delAAAAAAAAAAAA	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AGXT_chr2_240863824_240885500	240880574	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG02080.hp1 others(24): Show HG00558.hp1 HG01433.hp1 HG02080.hp1 HG02148.hp1 HG02698.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19056.hp1 NA19087.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0002c0013 a0002c0027 others(2): Show a0002c0003 a0002c0013 a0002c0027 a0004c0006 a0004c0019	a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 others(2): Show a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 a0004c0006t0005 a0004c0019t0005	a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(7): Show a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 a0002c0003t0005g0120 a0002c0003t0005g0123 a0002c0013t0005g0020 a0002c0027t0005g0006 a0004c0006t0005g0025 a0004c0006t0005g0108 a0004c0019t0005g0091	27	444	0.0608	-12	c.17 others(23): Show c.1754_*1765delTTTTTTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		75		chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246834949	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 NA19086.hp2 HG01099.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0334 a0001c0001t0001g0295 a0001c0001t0001g0334	2	376	0.0053	-12	c.58 others(23): Show c.5845_*5856delAAAAAAAAAAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding		4148		chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246892301	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02723.hp1 others(1): Show HG02630.hp1 HG02717.hp1 HG02723.hp1 HG03098.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0005 a0011c0016 a0001c0001 a0004c0005 a0011c0016	a0001c0001t0014 a0004c0005t0005 a0011c0016t0001 a0001c0001t0014 a0004c0005t0005 a0011c0016t0001	a0001c0001t0014g0003 a0004c0005t0005g0005 a0011c0016t0001g0274 others(1): Show a0001c0001t0014g0003 a0004c0005t0005g0005 a0011c0016t0001g0274 a0011c0016t0001g0275	4	376	0.0106	-12	c.180 others(29): Show c.1805-394_1805-383delAAAAAAAAAAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	14/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246920142	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01891.hp2 others(1): Show HG00741.hp2 HG01243.hp2 HG01891.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 others(1): Show a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273	4	376	0.0106	-12	c.-7- others(27): Show c.-7-1777_-7-1766delTTTTTTTTTTTT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	1/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246922961	CGACAGAG others(5): Show CGACAGAGCGAGA	C C	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	376	0.0027	-12	c.-7- others(27): Show c.-7-4596_-7-4585delTCTCGCTCTGTC	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	1/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246923420	AATAAATA others(5): Show AATAAATAAATAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02717.hp2 others(3): Show HG02451.hp1 HG02630.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0044 a0001c0004 a0001c0044	a0001c0004t0002 a0001c0004t0020 a0001c0044t0002 a0001c0004t0002 a0001c0004t0020 a0001c0044t0002	a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0146 others(3): Show a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0146 a0001c0004t0002g0148 a0001c0004t0020g0147 a0001c0044t0002g0149	6	376	0.0160	-12	c.-7- others(27): Show c.-7-5055_-7-5044delGTATTTATTTAT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	1/35			chr1	TogoVar
AHCY_chr20_34275268_34308355	34306079	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02572.hp1 others(6): Show HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG03139.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0166 a0001c0001t0001g0167 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170	9	300	0.0300	-12	c.-28 others(23): Show c.-2821_-2810delTTTTTTTTTTTT	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding		2725		chr20	TogoVar
AHDC1_chr1_27529245_27609144	27599179	ACAGGGCC others(5): Show ACAGGGCCAGGGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02559.hp1 others(3): Show HG01891.hp1 HG02109.hp1 HG02559.hp1 HG03041.hp2 HG03209.hp1 HG03486.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0009c0017	a0001c0001t0001 a0001c0007t0007 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0007t0007 a0002c0003t0002 a0009c0017t0007	a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0155 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0155 a0001c0007t0007g0099 a0002c0003t0002g0104 a0009c0017t0007g0100	6	180	0.0333	-12	c.-62 others(31): Show c.-629+4206_-629+4217delGCCCTGGCCCTG	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	3/8			chr1	TogoVar
AHDC1_chr1_27529245_27609144	27608841	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	180	0.0056	-12	c.-56 others(23): Show c.-5610_-5599delACACACACACAC	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4698		chr1	TogoVar
AHI1_chr6_135278532_135502740	135293394	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03834.hp1 HG02258.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0170 a0001c0001t0002g0096 a0001c0001t0002g0170	2	220	0.0091	-12	c.348 others(31): Show c.3486-2881_3486-2870delCTTTTTTTTTTT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135316361	ACTTTGAG others(5): Show ACTTTGAGAATGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0104 a0001c0015t0010g0104	1	220	0.0046	-12	c.342 others(31): Show c.3426+2146_3426+2157delCCATTCTCAAAG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	26/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135340654	CATACATA others(5): Show CATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG02486.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0004 a0001c0013t0007 a0001c0001t0004 a0001c0013t0007	a0001c0001t0004g0051 a0001c0013t0007g0168 a0001c0001t0004g0051 a0001c0013t0007g0168	2	220	0.0091	-12	c.316 others(33): Show c.3166-17342_3166-17331delATATATATGTAT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135361645	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02004.hp1 HG02257.hp1 others(7): Show HG01891.hp2 HG02004.hp1 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG03130.hp1 HG03225.hp2 HG03486.hp1 HG03669.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0131 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0131 a0001c0001t0003g0012 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0119 a0001c0001t0003g0177 a0001c0001t0004g0114 a0001c0002t0004g0028	10	220	0.0455	-12	c.311 others(31): Show c.3110-3470_3110-3459delTGTGTGTGTGTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135374098	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	220	0.0046	-12	c.311 others(33): Show c.3110-15923_3110-15912delAATATATATATA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135374100	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02559.hp1 HG03017.hp1 others(4): Show HG00639.hp1 HG02559.hp1 HG03017.hp1 HG03041.hp1 HG03486.hp1 NA18906.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0018 a0009c0017 a0001c0001 a0001c0018 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0018t0007 a0009c0017t0003	a0001c0001t0001g0085 a0001c0001t0003g0029 a0001c0001t0003g0177 others(4): Show a0001c0001t0001g0085 a0001c0001t0003g0029 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0005g0176 a0001c0018t0007g0175 a0009c0017t0003g0030	7	220	0.0318	-12	c.311 others(33): Show c.3110-15925_3110-15914delAAAATATATATA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135388134	CAGTTAAT others(5): Show CAGTTAATTTTGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01891.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG01891.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0013 a0001c0003t0002 a0001c0003t0004 a0001c0003t0013	a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 others(2): Show a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0017 a0001c0003t0013g0046	5	220	0.0227	-12	c.310 others(31): Show c.3109+6630_3109+6641delACAAAATTAACT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHRR_chr5_316714_443285	340678	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0238 a0001c0001t0022g0238	1	268	0.0037	-12	c.-10 others(29): Show c.-10-3213_-10-3202delATATATATATTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340682	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01515.hp1 others(1): Show HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0012 a0003c0004t0004 a0003c0004t0012	a0003c0004t0004g0002 a0003c0004t0012g0001 a0003c0004t0004g0002 a0003c0004t0012g0001	4	268	0.0149	-12	c.-10 others(29): Show c.-10-3209_-10-3198delATATATTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar

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