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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Select column to sort.

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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
A1CF_chr10_50794409_50890627	50824645	GGCATGTA others(3): Show GGCATGTAGGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03139.hp1 others(2): Show HG02258.hp1 HG02922.hp2 HG03139.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0037 a0001c0001t0008 a0001c0001t0037	a0001c0001t0008g0006 a0001c0001t0008g0098 a0001c0001t0037g0050 a0001c0001t0008g0006 a0001c0001t0008g0098 a0001c0001t0037g0050	5	338	0.0148	-10	c.769 others(27): Show c.769+3476_769+3485delTCCTACATGC	A1CF	ENSG00000148584.16	transcript	ENST00000373997.8	protein_coding	7/12			chr10	TogoVar
A2ML1_chr12_8817621_8881787	8845864	ATAAATAA others(3): Show ATAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG02717.hp1 HG02922.hp1	a0010 a0032 a0010 a0032	a0010c0065 a0032c0041 a0010c0065 a0032c0041	a0010c0065t0005 a0032c0041t0001 a0010c0065t0005 a0032c0041t0001	a0010c0065t0005g0313 a0032c0041t0001g0221 a0010c0065t0005g0313 a0032c0041t0001g0221	2	368	0.0054	-10	c.153 others(27): Show c.1538-212_1538-203delTAAATAAAAT	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	13/35			chr12	TogoVar
A2M_chr12_9062708_9120919	9108099	GTTTATTT others(3): Show GTTTATTTTAT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01175.hp1 others(10): Show HG00733.hp2 HG00735.hp1 HG01175.hp1 HG01993.hp1 HG02523.hp1 HG02572.hp1 HG02630.hp1 HG02976.hp1 HG03453.hp2 HG03834.hp1 NA18906.hp2 NA19066.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0226 a0002c0002t0002g0015 a0002c0002t0002g0016 others(8): Show a0001c0001t0001g0226 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0132	13	332	0.0392	-10	c.759 others(25): Show c.759-465_759-456delATAAAATAAA	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	7/35			chr12	TogoVar
A4GALT_chr22_42687121_42725870	42703106	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01074.hp1 others(1): Show HG00323.hp2 HG00738.hp1 HG01074.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0093 a0001c0002t0005g0096 a0001c0002t0005g0097 others(1): Show a0001c0002t0005g0093 a0001c0002t0005g0096 a0001c0002t0005g0097 a0001c0002t0005g0098	4	406	0.0099	-10	c.-18 others(29): Show c.-187-7485_-187-7476delCACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722157	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG04184.hp2 HG03540.hp2 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0010 a0001c0001t0002 a0004c0005t0010	a0001c0001t0002g0104 a0004c0005t0010g0281 a0001c0001t0002g0104 a0004c0005t0010g0281	2	406	0.0049	-10	c.-15 others(21): Show c.-1558_-1549delTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1288		chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722222	CATTTTTT others(3): Show CATTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0053 a0001c0002t0003g0053	1	406	0.0025	-10	c.-16 others(21): Show c.-1623_-1614delAAAAAAAAAT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1353		chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722223	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(132): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01074.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG03453.hp1 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0003c0004 a0004c0005	a0001c0001t0002 a0001c0001t0019 a0001c0001t0022 others(12): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0009t0013 a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 a0003c0004t0006 a0004c0005t0010	a0001c0001t0002g0003 a0001c0001t0002g0087 a0001c0001t0002g0091 others(129): Show a0001c0001t0002g0003 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0019g0206 a0001c0001t0022g0214 a0001c0001t0026g0171 a0001c0002t0002g0196 a0001c0002t0004g0090 a0001c0002t0004g0094 a0001c0002t0005g0089 a0001c0002t0005g0093 a0001c0002t0005g0096 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0099 a0001c0002t0005g0100 a0001c0002t0005g0108 a0001c0002t0005g0109 a0001c0002t0005g0123 a0001c0002t0005g0128 a0001c0002t0005g0137 a0001c0002t0005g0146 a0001c0002t0005g0170 a0001c0002t0005g0183 a0001c0002t0005g0197 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0005g0201 a0001c0002t0005g0202 a0001c0002t0005g0219 a0001c0002t0006g0004 a0001c0002t0006g0111 a0001c0002t0006g0147 a0001c0002t0006g0168 a0001c0002t0006g0209 a0001c0002t0006g0211 a0001c0002t0006g0215 a0001c0002t0006g0217 a0001c0002t0006g0221 a0001c0002t0006g0222 a0001c0002t0009g0117 a0001c0009t0013g0213 a0002c0003t0001g0002 a0002c0003t0001g0085 a0002c0003t0001g0116 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0136 a0002c0003t0001g0140 a0002c0003t0001g0156 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0182 a0002c0003t0001g0216 a0002c0003t0004g0134 a0002c0003t0008g0011 a0003c0004t0006g0223 a0003c0004t0006g0225 a0003c0004t0006g0226 a0003c0004t0006g0227 a0003c0004t0006g0228 a0004c0005t0010g0086	135	406	0.3325	-10	c.-16 others(21): Show c.-1624_-1615delAAAAAAAAAA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1354		chr22	TogoVar
AAAS_chr12_53302460_53326610	53318235	TGTGTGTG others(3): Show TGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	330	0.0030	-10	c.251 others(27): Show c.251+2320_251+2329delGCACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318245	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	330	0.0030	-10	c.251 others(27): Show c.251+2310_251+2319delACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AACS_chr12_125060435_125148316	125094978	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(14): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG03041.hp2 HG03209.hp1 HG03579.hp2 HG03704.hp1 NA18983.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0011 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0005 a0002c0011t0001 a0005c0014t0001	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0166 others(11): Show a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0002g0223 a0001c0003t0001g0354 a0001c0003t0001g0355 a0002c0002t0001g0004 a0002c0002t0001g0036 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0005g0096 a0002c0011t0001g0014 a0005c0014t0001g0339	17	364	0.0467	-10	c.570 others(27): Show c.570+3492_570+3501delGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125103987	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show HG02055.hp2 HG02145.hp2 HG02559.hp2 HG02615.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0257	12	364	0.0330	-10	c.767 others(25): Show c.767+929_767+938delAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125110189	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00642.hp2 others(74): Show HG00099.hp1 HG00099.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02132.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02647.hp2 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA19002.hp2 NA19009.hp1 NA19055.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19081.hp2 NA19084.hp2 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0007 a0008c0023 a0010c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0007t0001 a0008c0023t0003 a0010c0022t0001	a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0061 others(72): Show a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0315 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0343 a0001c0001t0003g0044 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0318 a0001c0001t0003g0326 a0001c0001t0006g0198 a0001c0001t0008g0208 a0001c0003t0001g0214 a0001c0003t0001g0256 a0001c0003t0001g0353 a0002c0002t0001g0001 a0002c0002t0001g0036 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0121 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0147 a0002c0002t0001g0152 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0002g0125 a0002c0002t0003g0120 a0002c0005t0001g0024 a0002c0007t0001g0016 a0008c0023t0003g0119 a0010c0022t0001g0128	77	364	0.2115	-10	c.915 others(27): Show c.915+2973_915+2982delGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125122040	CGAGAGGT others(3): Show CGAGAGGTCTT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	364	0.0028	-10	c.112 others(29): Show c.1122-2663_1122-2654delAGAGGTCTTG	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125141701	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	364	0.0028	-10	c.188 others(27): Show c.1882-373_1882-364delAAGAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151761194	TACATATT others(3): Show TACATATTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG02165.hp2 HG02486.hp2 others(3): Show HG00438.hp1 HG02165.hp2 HG02486.hp2 HG02735.hp2 NA18966.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0030 a0001c0001t0021 a0001c0001t0030	a0001c0001t0021g0002 a0001c0001t0021g0057 a0001c0001t0021g0103 others(2): Show a0001c0001t0021g0002 a0001c0001t0021g0057 a0001c0001t0021g0103 a0001c0001t0030g0032 a0001c0001t0030g0067	6	428	0.0140	-10	c.36 others(21): Show c.3602_*3611delCATATTGTGA	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3602	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151761204	GATATATA others(3): Show GATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0005 a0002c0002t0042g0005	1	428	0.0023	-10	c.36 others(21): Show c.3639_*3648delATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3639	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL3_chr1_12711110_12733760	12722340	AAAAAAAA others(3): Show AAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(97): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0010 a0013 a0019	a0002c0003 a0002c0018 a0003c0005 others(8): Show a0002c0003 a0002c0018 a0003c0005 a0003c0009 a0004c0007 a0004c0010 a0004c0024 a0005c0006 a0010c0030 a0013c0026 a0019c0036	a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 others(25): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 a0002c0018t0003 a0002c0018t0047 a0003c0005t0004 a0003c0005t0007 a0003c0005t0027 a0003c0009t0003 a0003c0009t0005 a0003c0009t0007 a0004c0007t0004 a0004c0007t0007 a0004c0007t0012 a0004c0007t0015 a0004c0007t0019 a0004c0010t0012 a0004c0010t0025 a0004c0010t0046 a0004c0024t0019 a0005c0006t0006 a0005c0006t0034 a0005c0006t0035 a0005c0006t0038 a0005c0006t0045 a0010c0030t0012 a0013c0026t0012 a0019c0036t0007	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 others(43): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0145 a0002c0003t0039g0005 a0002c0018t0003g0005 a0002c0018t0047g0086 a0003c0005t0004g0003 a0003c0005t0004g0040 a0003c0005t0004g0092 a0003c0005t0004g0112 a0003c0005t0007g0003 a0003c0005t0007g0109 a0003c0005t0027g0130 a0003c0009t0003g0031 a0003c0009t0005g0140 a0003c0009t0007g0003 a0003c0009t0007g0005 a0004c0007t0004g0003 a0004c0007t0004g0042 a0004c0007t0004g0091 a0004c0007t0004g0108 a0004c0007t0007g0093 a0004c0007t0012g0126 a0004c0007t0015g0044 a0004c0007t0015g0105 a0004c0007t0015g0144 a0004c0007t0019g0043 a0004c0010t0012g0013 a0004c0010t0025g0013 a0004c0010t0025g0056 a0004c0010t0046g0052 a0004c0024t0019g0081 a0005c0006t0006g0055 a0005c0006t0034g0054 a0005c0006t0035g0079 a0005c0006t0038g0067 a0005c0006t0045g0049 a0010c0030t0012g0013 a0013c0026t0012g0089 a0019c0036t0007g0040	100	432	0.2315	-10	c.449 others(27): Show c.449+1395_449+1404delAAAAAAAAAT	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	3/3			chr1	TogoVar
AADAC_chr3_151809116_151833488	151821089	TGAGTGCC others(3): Show TGAGTGCCCTG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	440	0.0023	-10	c.431 others(25): Show c.431+642_431+651delGCCCTGGAGT	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
AAGAB_chr15_67195667_67259661	67196162	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp1 others(202): Show HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0013 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(190): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0243 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0360 a0001c0001t0002g0003 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0004g0250 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0010g0241 a0001c0001t0010g0242 a0001c0001t0011g0012 a0001c0001t0016g0287 a0001c0001t0017g0258 a0001c0003t0001g0002 a0001c0003t0001g0019 a0001c0003t0001g0020 a0002c0002t0001g0336 a0002c0002t0002g0005 a0002c0002t0002g0093 a0002c0002t0002g0107 a0002c0002t0002g0111 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0209 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0222 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0225 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0240 a0002c0002t0003g0361 a0002c0002t0007g0204 a0002c0002t0013g0134 a0002c0002t0013g0158 a0004c0006t0001g0022	205	380	0.5395	-10	c.66 others(21): Show c.6649_*6658delTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding		4504		chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222221	TGCACGCG others(3): Show TGCACGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG03041.hp2 others(2): Show HG02486.hp1 HG02622.hp1 HG03041.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 others(2): Show a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0260 a0001c0001t0004g0263	5	380	0.0132	-10	c.535 others(27): Show c.535+9583_535+9592delGTGCGCGTGC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222236	GCGCGCGC others(3): Show GCGCGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG00733.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	2	380	0.0053	-10	c.535 others(27): Show c.535+9568_535+9577delTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222240	GCGCACAC others(3): Show GCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp2 HG00639.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0277 a0001c0001t0001g0279	2	380	0.0053	-10	c.535 others(27): Show c.535+9564_535+9573delTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02896.hp2 others(1): Show HG02559.hp2 HG02622.hp1 HG02896.hp2 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0018 a0002c0005t0100 a0002c0005t0018 a0002c0005t0100	a0002c0005t0018g0064 a0002c0005t0018g0103 a0002c0005t0018g0104 others(1): Show a0002c0005t0018g0064 a0002c0005t0018g0103 a0002c0005t0018g0104 a0002c0005t0100g0116	4	298	0.0134	-10	c.236 others(29): Show c.2365+2817_2365+2826delTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02717.hp2 HG03654.hp2 HG02015.hp2 HG02717.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0063 a0001c0001t0007 a0001c0001t0008 a0001c0001t0063	a0001c0001t0007g0089 a0001c0001t0008g0022 a0001c0001t0063g0288 a0001c0001t0007g0089 a0001c0001t0008g0022 a0001c0001t0063g0288	3	298	0.0101	-10	c.227 others(29): Show c.2270-4594_2270-4585delATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69523400	CTTTAGAG others(3): Show CTTTAGAGGCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0188 a0001c0001t0124g0188	1	298	0.0034	-10	c.105 others(29): Show c.1055+1623_1055+1632delTGCCTCTAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	10/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69523414	CTAAAATA others(3): Show CTAAAATAACT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0188 a0001c0001t0124g0188	1	298	0.0034	-10	c.105 others(29): Show c.1055+1609_1055+1618delAGTTATTTTA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	10/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69524412	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 NA18612.hp1 HG02109.hp2 HG03471.hp2 NA18612.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0012 a0001c0003 a0004c0012	a0001c0003t0108 a0004c0012t0036 a0004c0012t0061 a0001c0003t0108 a0004c0012t0036 a0004c0012t0061	a0001c0003t0108g0138 a0004c0012t0036g0283 a0004c0012t0061g0067 a0001c0003t0108g0138 a0004c0012t0036g0283 a0004c0012t0061g0067	3	298	0.0101	-10	c.105 others(27): Show c.1055+611_1055+620delCAAAACAAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	10/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69568425	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0145 a0001c0001t0027g0145	1	298	0.0034	-10	c.164 others(29): Show c.164-11457_164-11448delAAAAAAAAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAMDC_chr11_77816144_77877352	77832949	ATATGTGT others(3): Show ATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	382	0.0026	-10	c.-18 others(27): Show c.-18-9528_-18-9519delATGTGTGTGT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77832951	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00621.hp2 others(40): Show HG00280.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01496.hp1 HG01934.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02895.hp1 HG02965.hp1 HG03209.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18955.hp2 NA18968.hp1 NA18969.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18991.hp1 NA18995.hp1 NA19010.hp1 NA19074.hp2 NA19081.hp2 NA19087.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0001g0096 others(39): Show a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0002t0001g0009 a0002c0003t0001g0028 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0068 a0002c0003t0001g0069	43	382	0.1126	-10	c.-18 others(27): Show c.-18-9490_-18-9481delGTGTGTGTGT	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AAR2_chr20_36231478_36261933	36232816	CCTCTCTC others(3): Show CCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0166 a0001c0002t0011g0166	1	298	0.0034	-10	c.-37 others(21): Show c.-3735_-3726delCTCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36247645	ATCACTTG others(3): Show ATCACTTGAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03471.hp2 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0120 a0001c0001t0001g0123	2	298	0.0067	-10	c.987 others(27): Show c.987+2723_987+2732delCTTGAGGTCA	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
AAR2_chr20_36231478_36261933	36258142	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	-10	c.23 others(21): Show c.2398_*2407delACACACACAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1210		chr20	TogoVar
AAR2_chr20_36231478_36261933	36258858	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02559.hp1 others(2): Show HG01884.hp1 HG02486.hp2 HG02559.hp1 HG02922.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0007t0002	a0001c0002t0002g0036 a0001c0002t0002g0184 a0001c0002t0004g0030 others(2): Show a0001c0002t0002g0036 a0001c0002t0002g0184 a0001c0002t0004g0030 a0001c0002t0007g0170 a0001c0007t0002g0191	5	298	0.0168	-10	c.31 others(21): Show c.3114_*3123delAAAAAAAAAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1926		chr20	TogoVar
AARS1_chr16_70247298_70294506	70262967	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19055.hp1 NA19057.hp2 others(1): Show HG01943.hp2 NA19055.hp1 NA19057.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0001c0016t0001	a0001c0001t0001g0142 a0001c0002t0001g0302 a0001c0013t0001g0086 others(1): Show a0001c0001t0001g0142 a0001c0002t0001g0302 a0001c0013t0001g0086 a0001c0016t0001g0097	4	362	0.0111	-10	c.149 others(27): Show c.1493-453_1493-444delTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	11/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70270474	AGAGGGAA others(3): Show AGAGGGAAGTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0359 a0002c0004t0001g0359	1	362	0.0028	-10	c.672 others(25): Show c.672-144_672-135delCACTTCCCTC	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	5/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70288032	TGGGATTA others(3): Show TGGGATTACAG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0009 a0007c0015t0001g0009	1	362	0.0028	-10	c.-22 others(27): Show c.-22+1379_-22+1388delCTGTAATCCC	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	1/20			chr16	TogoVar
AARSD1_chr17_42945526_42969454	42947862	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	324	0.0031	-10	c.27 others(21): Show c.2721_*2730delTTTTTTTTTT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2663		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42965994	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0145 a0002c0004t0001g0145	1	324	0.0031	-10	c.-15 others(21): Show c.-1564_-1555delTTTTTTTTTT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		1541		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967198	TATATTAT others(3): Show TATATTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	324	0.0031	-10	c.-27 others(21): Show c.-2768_-2759delTATATAATAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2745		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967424	TATATATG others(3): Show TATATATGTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	324	0.0031	-10	c.-29 others(21): Show c.-2994_-2985delCTACATATAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2971		chr17	TogoVar
AARSD1_chr17_42945526_42969454	42967494	TTAAATAT others(3): Show TTAAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	324	0.0031	-10	c.-30 others(21): Show c.-3064_-3055delTATATATTTA	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		3041		chr17	TogoVar
AASDH_chr4_56333290_56392491	56386799	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0041 a0004c0004t0001g0041	1	382	0.0026	-10	c.-43 others(25): Show c.-43+553_-43+562delTTTTTTTTTT	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	1/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122141658	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	384	0.0026	-10	c.-16 others(27): Show c.-16+2493_-16+2502delTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATF_chr17_36943954_37061871	37051693	GACAGACA others(3): Show GACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	245	0.0041	-10	c.162 others(29): Show c.1620-4904_1620-4895delGACACACACA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATK_chr17_81112295_81171221	81127388	GCCCCCAC others(3): Show GCCCCCACAGT	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0277 a0001c0011t0001g0277	1	368	0.0027	-10	c.621 others(25): Show c.621+185_621+194delACTGTGGGGG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	6/13			chr17	TogoVar
AATK_chr17_81112295_81171221	81169974	ACATGTGT others(3): Show ACATGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG02027.hp2 others(3): Show HG00609.hp2 HG00673.hp1 HG02027.hp2 HG02135.hp1 HG02165.hp1 HG04228.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0009 a0002c0002 a0003c0003 a0003c0009	a0002c0002t0001 a0003c0003t0002 a0003c0009t0001 a0002c0002t0001 a0003c0003t0002 a0003c0009t0001	a0002c0002t0001g0049 a0002c0002t0001g0061 a0002c0002t0001g0070 others(3): Show a0002c0002t0001g0049 a0002c0002t0001g0061 a0002c0002t0001g0070 a0002c0002t0001g0071 a0003c0003t0002g0109 a0003c0009t0001g0062	6	368	0.0163	-10	c.-39 others(21): Show c.-3992_-3983delCACACACATG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding		3754		chr17	TogoVar
ABAT_chr16_8669617_8789570	8673396	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01257.hp1 HG01258.hp1 others(10): Show HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02735.hp1 HG02809.hp2 HG03098.hp1 HG03239.hp1 HG03927.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 others(3): Show a0001c0001 a0001c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0005t0001 a0002c0006t0007 a0002c0016t0003	a0001c0001t0001g0227 a0001c0001t0002g0034 a0001c0001t0002g0226 others(10): Show a0001c0001t0001g0227 a0001c0001t0002g0034 a0001c0001t0002g0226 a0001c0001t0005g0232 a0001c0003t0001g0234 a0001c0003t0003g0236 a0001c0003t0005g0233 a0002c0004t0001g0230 a0002c0004t0002g0229 a0002c0004t0003g0231 a0002c0005t0001g0237 a0002c0006t0007g0228 a0002c0016t0003g0235	13	362	0.0359	-10	c.-13 others(21): Show c.-1356_-1347delTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding		1220		chr16	TogoVar
ABAT_chr16_8669617_8789570	8710684	GAGAGAGA others(3): Show GAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA20300.hp2 HG02257.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0338 a0001c0001t0001g0024 a0001c0001t0001g0338	2	362	0.0055	-10	c.-41 others(29): Show c.-41-25005_-41-24996delCAGAGAGAGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8724736	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00673.hp1 others(17): Show HG00408.hp1 HG00438.hp1 HG00673.hp1 HG01123.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02572.hp1 HG02818.hp2 HG03195.hp2 HG03239.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG06807.hp1 NA18942.hp2 NA18951.hp2 NA18991.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0005t0001 a0002c0005t0003	a0001c0001t0001g0156 a0001c0001t0002g0296 a0001c0001t0002g0352 others(17): Show a0001c0001t0001g0156 a0001c0001t0002g0296 a0001c0001t0002g0352 a0001c0001t0003g0039 a0001c0001t0003g0091 a0001c0001t0003g0257 a0001c0001t0005g0232 a0001c0003t0003g0126 a0002c0002t0001g0010 a0002c0002t0001g0144 a0002c0002t0001g0334 a0002c0002t0002g0184 a0002c0002t0005g0250 a0002c0002t0008g0106 a0002c0002t0012g0259 a0002c0002t0016g0143 a0002c0002t0017g0055 a0002c0005t0001g0022 a0002c0005t0001g0237 a0002c0005t0003g0207	20	362	0.0553	-10	c.-41 others(29): Show c.-41-10953_-41-10944delCAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar

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