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
A1BG_chr19_58340183_58358492	58349652	A A	AAAAAAAA others(3): Show AAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0050 a0001c0001t0020g0050	1	386	0.0026	10	c.119 others(27): Show c.1192+717_1192+718insGTTTTTTTTT	A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding	6/7			chr19	TogoVar
A2ML1_chr12_8817621_8881787	8845864	A A	AAAAATAA others(3): Show AAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0026 a0026	a0026c0056 a0026c0056	a0026c0056t0003 a0026c0056t0003	a0026c0056t0003g0133 a0026c0056t0003g0133	1	368	0.0027	10	c.153 others(27): Show c.1538-213_1538-212insAAAATAAAAT	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	13/35			chr12	TogoVar
A2ML1_chr12_8817621_8881787	8845865	T T	TAAATAAA others(3): Show TAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp1 others(41): Show HG00099.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG02132.hp2 HG02148.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp2 NA18971.hp2 NA18993.hp2 NA19057.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0018	a0001c0001 a0001c0002 a0001c0006 others(9): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0007 a0003c0005 a0003c0010 a0003c0023 a0003c0071 a0004c0047 a0018c0032	a0001c0001t0001 a0001c0002t0002 a0001c0006t0002 others(10): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0002 a0002c0003t0001 a0002c0004t0003 a0002c0007t0003 a0003c0005t0001 a0003c0005t0003 a0003c0010t0003 a0003c0023t0001 a0003c0071t0003 a0004c0047t0004 a0018c0032t0002	a0001c0001t0001g0298 a0001c0002t0002g0050 a0001c0002t0002g0051 others(39): Show a0001c0001t0001g0298 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0006t0002g0251 a0002c0003t0001g0047 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0097 a0002c0003t0001g0207 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0345 a0002c0004t0003g0002 a0002c0004t0003g0079 a0002c0004t0003g0348 a0002c0007t0003g0266 a0002c0007t0003g0322 a0003c0005t0001g0122 a0003c0005t0003g0080 a0003c0005t0003g0083 a0003c0005t0003g0086 a0003c0005t0003g0091 a0003c0005t0003g0094 a0003c0005t0003g0095 a0003c0005t0003g0103 a0003c0005t0003g0104 a0003c0005t0003g0120 a0003c0005t0003g0121 a0003c0005t0003g0285 a0003c0010t0003g0003 a0003c0010t0003g0049 a0003c0010t0003g0078 a0003c0010t0003g0084 a0003c0010t0003g0085 a0003c0010t0003g0088 a0003c0010t0003g0119 a0003c0023t0001g0224 a0003c0071t0003g0232 a0004c0047t0004g0093 a0018c0032t0002g0066	44	368	0.1196	10	c.153 others(27): Show c.1538-193_1538-184dupTAAAATAAAA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	13/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2M_chr12_9062708_9120919	9094340	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19085.hp1 HG02300.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0174 a0001c0001t0001g0194	2	332	0.0060	10	c.212 others(27): Show c.2125+623_2125+632dupATATATATAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35			chr12	TogoVar
A2M_chr12_9062708_9120919	9108099	G G	GTTTATTT others(3): Show GTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02647.hp2 others(2): Show HG02055.hp1 HG02257.hp2 HG02647.hp2 HG02738.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0227	5	332	0.0151	10	c.759 others(25): Show c.759-465_759-456dupATAAAATAAA	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	7/35			chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CATGTGTG others(3): Show CATGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01071.hp2 others(20): Show HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02055.hp1 HG02257.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2 HG03942.hp2 HG04228.hp2 NA18906.hp2 NA19240.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0001c0021 a0002c0002 a0014c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0009t0002 a0001c0021t0002 a0002c0002t0002 a0014c0019t0002	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(18): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0003g0037 a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0009t0002g0082 a0001c0021t0002g0076 a0002c0002t0002g0016 a0014c0019t0002g0043	23	332	0.0693	10	c.-50 others(21): Show c.-5004_-5003insACACACACAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp1 others(76): Show HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG02040.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG03453.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 NA18940.hp2 NA18943.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19076.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0026 a0002c0002 others(3): Show a0001c0001 a0001c0026 a0002c0002 a0003c0004 a0004c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0026t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0004c0006t0001 a0006c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0022 others(62): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0255 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0143 a0001c0026t0001g0219 a0002c0002t0001g0211 a0002c0002t0002g0015 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0115 a0002c0002t0002g0118 a0002c0002t0002g0124 a0003c0004t0001g0001 a0004c0006t0001g0187 a0004c0006t0001g0199 a0004c0006t0001g0204 a0004c0006t0001g0205 a0006c0008t0001g0229	79	332	0.2380	10	c.-50 others(21): Show c.-5004_-5003insACACACACAC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTGTT others(3): Show GTTTTGTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0107 a0001c0001t0000g0107	1	418	0.0024	10	c.336 others(27): Show c.336-1298_336-1297insAAAAACAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG01934.hp1 others(10): Show HG01167.hp2 HG01884.hp2 HG01934.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp2 HG03098.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0015 a0004c0007 a0001c0001 a0001c0015 a0004c0007	a0001c0001t0000 a0001c0015t0000 a0004c0007t0000 a0001c0001t0000 a0001c0015t0000 a0004c0007t0000	a0001c0001t0000g0031 a0001c0001t0000g0036 a0001c0001t0000g0067 others(8): Show a0001c0001t0000g0031 a0001c0001t0000g0036 a0001c0001t0000g0067 a0001c0001t0000g0070 a0001c0001t0000g0089 a0001c0001t0000g0091 a0001c0001t0000g0123 a0001c0001t0000g0161 a0001c0001t0000g0163 a0001c0015t0000g0145 a0004c0007t0000g0093	13	418	0.0311	10	c.336 others(27): Show c.336-1307_336-1298dupAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308753	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0154 a0001c0001t0000g0154	1	418	0.0024	10	c.336 others(27): Show c.336-1301_336-1300insCAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308756	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02040.hp1 HG03688.hp1 others(6): Show HG00423.hp2 HG02040.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 NA18959.hp1 NA18969.hp2 NA18971.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0013 a0001c0001t0000g0022 a0001c0001t0000g0110 others(3): Show a0001c0001t0000g0013 a0001c0001t0000g0022 a0001c0001t0000g0110 a0001c0001t0000g0112 a0001c0001t0000g0116 a0001c0001t0000g0150	9	418	0.0215	10	c.336 others(27): Show c.336-1304_336-1303insCAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308760	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0080 a0001c0001t0000g0080	1	418	0.0024	10	c.336 others(27): Show c.336-1308_336-1307insCAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33318126	T T	TTTGCAGT others(3): Show TTTGCAGTCAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0205 a0001c0001t0000g0205	1	418	0.0024	10	c.23+ others(25): Show c.23+2940_23+2949dupGTGACTGCAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	1/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00741.hp2 others(20): Show HG00438.hp1 HG00438.hp2 HG00741.hp2 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG02056.hp2 HG02145.hp1 HG02257.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02818.hp1 HG03486.hp2 HG03540.hp2 HG04115.hp2 NA18906.hp2 NA18966.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0003 a0004c0005 others(1): Show a0001c0001 a0002c0003 a0004c0005 a0005c0006	a0001c0001t0018 a0002c0003t0001 a0002c0003t0004 others(3): Show a0001c0001t0018 a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 a0004c0005t0010 a0005c0006t0001	a0001c0001t0018g0390 a0002c0003t0001g0216 a0002c0003t0001g0232 others(20): Show a0001c0001t0018g0390 a0002c0003t0001g0216 a0002c0003t0001g0232 a0002c0003t0001g0240 a0002c0003t0001g0249 a0002c0003t0001g0260 a0002c0003t0001g0269 a0002c0003t0001g0318 a0002c0003t0001g0325 a0002c0003t0001g0337 a0002c0003t0001g0356 a0002c0003t0001g0359 a0002c0003t0001g0363 a0002c0003t0001g0371 a0002c0003t0001g0376 a0002c0003t0004g0327 a0002c0003t0008g0011 a0004c0005t0010g0086 a0004c0005t0010g0273 a0004c0005t0010g0274 a0004c0005t0010g0275 a0004c0005t0010g0281 a0005c0006t0001g0395	23	406	0.0567	10	c.-18 others(27): Show c.-187-500_-187-491dupTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42696442	A A	AAAGAAAA others(3): Show AAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0214 a0001c0001t0022g0214	1	406	0.0025	10	c.-18 others(27): Show c.-187-812_-187-811insCTTTTTTCTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703057	C C	CTCTGTGT others(3): Show CTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp2 HG00738.hp2 HG02615.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0364 a0001c0009t0013g0384 a0001c0009t0013g0364 a0001c0009t0013g0384	2	406	0.0049	10	c.-18 others(29): Show c.-187-7427_-187-7426insCACACACAGA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02486.hp1 HG03669.hp1 others(3): Show HG00673.hp2 HG02486.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0003 a0001c0002t0009 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0009 a0002c0003t0001	a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0002t0003g0032 others(3): Show a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0002t0003g0032 a0001c0002t0003g0054 a0001c0002t0009g0242 a0002c0003t0001g0140	6	406	0.0148	10	c.-18 others(29): Show c.-187-7485_-187-7476dupCACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722222	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(17): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG02129.hp1 HG02300.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 NA18939.hp2 NA18951.hp1 NA18967.hp1 NA18988.hp2 NA18993.hp1 NA19060.hp2 NA19072.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0002t0003 a0001c0002t0014 others(2): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0014 a0001c0002t0015 a0002c0003t0008	a0001c0001t0007g0017 a0001c0002t0003g0013 a0001c0002t0003g0014 others(17): Show a0001c0001t0007g0017 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0020 a0001c0002t0003g0025 a0001c0002t0003g0028 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0054 a0001c0002t0003g0062 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0071 a0001c0002t0003g0073 a0001c0002t0003g0075 a0001c0002t0003g0080 a0001c0002t0014g0040 a0001c0002t0015g0051 a0002c0003t0008g0042 a0002c0003t0008g0048	20	406	0.0493	10	c.-16 others(21): Show c.-1614_-1613insAAAAAAAAAA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1353		chr22	TogoVar
AAAS_chr12_53302460_53326610	53318223	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp1 others(76): Show HG00140.hp2 HG00438.hp1 HG00544.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG03017.hp2 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0008t0001g0085 a0001c0008t0001g0144	79	330	0.2394	10	c.251 others(27): Show c.251+2332_251+2341dupACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318241	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	330	0.0030	10	c.251 others(27): Show c.251+2323_251+2324insGCACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318243	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18950.hp2 NA18959.hp1 others(7): Show HG00558.hp2 NA18950.hp2 NA18959.hp1 NA18979.hp1 NA18985.hp1 NA18992.hp2 NA18997.hp2 NA19002.hp1 NA19058.hp2 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0009 a0001c0001 a0001c0006 a0003c0009	a0001c0001t0001 a0001c0006t0001 a0003c0009t0001 a0001c0001t0001 a0001c0006t0001 a0003c0009t0001	a0001c0001t0001g0011 a0001c0001t0001g0074 a0001c0001t0001g0112 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0074 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0006t0001g0075 a0003c0009t0001g0188	10	330	0.0303	10	c.251 others(27): Show c.251+2321_251+2322insGCACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318247	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02572.hp2 HG03491.hp2 others(6): Show HG02080.hp1 HG02572.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp2 HG04115.hp1 NA18612.hp2 NA18944.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0118 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0150 a0001c0002t0001g0036	9	330	0.0273	10	c.251 others(27): Show c.251+2317_251+2318insGCACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318249	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02683.hp1 HG03927.hp1 others(2): Show HG01943.hp2 HG02683.hp1 HG03927.hp1 NA18995.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0061 a0001c0001t0001g0129 a0001c0001t0001g0019 a0001c0001t0001g0061 a0001c0001t0001g0129	5	330	0.0152	10	c.251 others(27): Show c.251+2315_251+2316insGCACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318257	T T	TGTGTGTG others(3): Show TGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	330	0.0030	10	c.251 others(27): Show c.251+2307_251+2308insTCACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AACS_chr12_125060435_125148316	125062916	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	364	0.0028	10	c.-26 others(21): Show c.-2669_-2668insGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding		2518		chr12	TogoVar
AACS_chr12_125060435_125148316	125112678	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01175.hp2 others(29): Show HG00544.hp2 HG00597.hp2 HG01175.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02165.hp1 HG02293.hp1 HG02615.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA18612.hp1 NA18955.hp1 NA18966.hp1 NA18981.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0002c0002 a0002c0005 a0002c0010 a0002c0021 a0002c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0015t0001 a0002c0002t0001 a0002c0005t0001 a0002c0010t0001 a0002c0021t0001 a0002c0025t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0287 a0001c0001t0002g0043 a0001c0001t0002g0218 a0001c0001t0005g0048 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0003t0001g0355 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0015t0001g0070 a0002c0002t0001g0075 a0002c0005t0001g0025 a0002c0010t0001g0018 a0002c0021t0001g0026 a0002c0025t0001g0255	32	364	0.0879	10	c.916 others(27): Show c.916-1795_916-1786dupAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151761204	G G	GATATATA others(3): Show GATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01070.hp2 others(21): Show HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01106.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG02300.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG04204.hp1 NA18971.hp1 NA18974.hp1 NA18982.hp1 NA18986.hp2 NA19003.hp1 NA19086.hp1 NA19089.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0011 a0001c0001t0014 a0001c0001t0027 others(4): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0027 a0001c0001t0039 a0002c0002t0011 a0002c0002t0062 a0006c0007t0014	a0001c0001t0011g0038 a0001c0001t0014g0006 a0001c0001t0014g0125 others(12): Show a0001c0001t0011g0038 a0001c0001t0014g0006 a0001c0001t0014g0125 a0001c0001t0014g0128 a0001c0001t0014g0129 a0001c0001t0014g0149 a0001c0001t0027g0034 a0001c0001t0027g0142 a0001c0001t0039g0045 a0002c0002t0011g0003 a0002c0002t0011g0004 a0002c0002t0011g0005 a0002c0002t0011g0088 a0002c0002t0062g0004 a0006c0007t0014g0006	24	428	0.0561	10	c.36 others(21): Show c.3639_*3648dupATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3649	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADAC_chr3_151809116_151833488	151831382	T T	TATACACA others(3): Show TATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01175.hp1 HG01255.hp2 others(24): Show HG00673.hp2 HG01175.hp1 HG01255.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02622.hp1 HG02717.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp2 NA18941.hp2 NA18968.hp1 NA18972.hp2 NA18981.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp1 NA19057.hp2 NA19063.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0009 a0001c0001 a0003c0003 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0003c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0033 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0054 a0001c0001t0002g0070 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0009t0001g0042	27	440	0.0614	10	c.32 others(21): Show c.3210_*3211insATACACACAC	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding		2895		chr3	TogoVar
AADAT_chr4_170055222_170094956	170056429	A A	AATATATA others(3): Show AATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	378	0.0027	10	c.44 others(21): Show c.4498_*4499insATATATATAT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3792		chr4	TogoVar
AADAT_chr4_170055222_170094956	170056435	A A	AAAATATA others(3): Show AAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	378	0.0027	10	c.44 others(21): Show c.4492_*4493insATATATATTT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3786		chr4	TogoVar
AADAT_chr4_170055222_170094956	170056435	A A	AATATATA others(3): Show AATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG03704.hp1 HG00741.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0001 a0001c0001t0001g0040	2	378	0.0053	10	c.44 others(21): Show c.4492_*4493insATATATATAT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3786		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222233	C C	CGCGCGCG others(3): Show CGCGCGCGCGT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	380	0.0026	10	c.535 others(27): Show c.535+9580_535+9581insACGCGCGCGC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0025 a0001c0001t0021g0025	1	380	0.0026	10	c.535 others(27): Show c.535+9562_535+9571dupTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(3): Show GCGCACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp2 HG01106.hp2 others(6): Show HG00438.hp2 HG01069.hp2 HG01106.hp2 HG02698.hp2 HG02965.hp2 HG03453.hp1 HG03579.hp1 NA18986.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 a0002c0002t0003 a0003c0005t0004	a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0045 others(6): Show a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0066 a0001c0001t0006g0236 a0002c0002t0002g0122 a0002c0002t0003g0219 a0003c0005t0004g0356	9	380	0.0237	10	c.535 others(27): Show c.535+9571_535+9572insTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCAC others(3): Show GCGCGCACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02895.hp1 HG03209.hp2 HG00741.hp1 HG02895.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0006g0238 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0006g0238	3	380	0.0079	10	c.535 others(27): Show c.535+9571_535+9572insTGTGTGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(3): Show GCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	380	0.0026	10	c.535 others(27): Show c.535+9571_535+9572insTGTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(3): Show ACACACACACC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp2 HG02273.hp2 others(3): Show HG00558.hp1 HG02027.hp2 HG02273.hp2 HG02602.hp2 HG03710.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0151 a0002c0002t0003g0142 a0002c0002t0003g0171 others(3): Show a0002c0002t0001g0151 a0002c0002t0003g0142 a0002c0002t0003g0171 a0002c0002t0003g0190 a0002c0002t0003g0198 a0002c0002t0003g0210	6	380	0.0158	10	c.535 others(27): Show c.535+9531_535+9532insGGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67241040	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG00741.hp1 others(61): Show HG00558.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01515.hp1 HG01516.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02559.hp1 HG02698.hp2 HG02896.hp1 HG03130.hp2 HG03209.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18978.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18992.hp2 NA19000.hp1 NA19005.hp1 NA19011.hp2 NA19043.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp2 NA19080.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0002t0002 a0002c0002t0012 a0005c0007t0002	a0001c0001t0001g0340 a0001c0001t0002g0029 a0001c0001t0002g0030 others(58): Show a0001c0001t0001g0340 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0009g0006 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0024 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0012g0127 a0002c0002t0012g0128 a0005c0007t0002g0098	64	380	0.1684	10	c.74- others(25): Show c.74-4230_74-4221dupGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67253260	C C	CGGGGGGG others(3): Show CGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	380	0.0026	10	c.73+ others(25): Show c.73+1289_73+1298dupCCCCCCCCCC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69488149	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG02486.hp1 others(4): Show HG01167.hp1 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp2 NA18973.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 a0001c0001 a0001c0011 a0002c0002	a0001c0001t0076 a0001c0001t0078 a0001c0001t0102 others(4): Show a0001c0001t0076 a0001c0001t0078 a0001c0001t0102 a0001c0011t0029 a0001c0011t0079 a0002c0002t0003 a0002c0002t0015	a0001c0001t0076g0037 a0001c0001t0078g0055 a0001c0001t0102g0113 others(4): Show a0001c0001t0076g0037 a0001c0001t0078g0055 a0001c0001t0102g0113 a0001c0011t0029g0294 a0001c0011t0079g0290 a0002c0002t0003g0215 a0002c0002t0015g0003	7	298	0.0235	10	c.236 others(29): Show c.2366-5347_2366-5338dupACACACACAC	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69490923	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02559.hp2 others(6): Show HG01167.hp1 HG01243.hp1 HG02559.hp2 HG02622.hp1 HG02896.hp2 HG02965.hp2 HG03486.hp1 NA18906.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0013 a0001c0001 a0002c0005 a0004c0013	a0001c0001t0014 a0001c0001t0078 a0002c0005t0018 others(2): Show a0001c0001t0014 a0001c0001t0078 a0002c0005t0018 a0002c0005t0100 a0004c0013t0107	a0001c0001t0014g0059 a0001c0001t0014g0060 a0001c0001t0014g0066 others(6): Show a0001c0001t0014g0059 a0001c0001t0014g0060 a0001c0001t0014g0066 a0001c0001t0078g0055 a0002c0005t0018g0064 a0002c0005t0018g0103 a0002c0005t0018g0104 a0002c0005t0100g0116 a0004c0013t0107g0107	9	298	0.0302	10	c.236 others(29): Show c.2365+5052_2365+5061dupTGTGTGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69492518	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0043 a0004c0013t0043	a0004c0013t0043g0284 a0004c0013t0043g0284	1	298	0.0034	10	c.236 others(29): Show c.2365+3457_2365+3466dupAAAAAAAAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02630.hp1 others(2): Show HG00735.hp2 HG01243.hp2 HG02630.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0026 a0001c0001 a0001c0006 a0001c0026	a0001c0001t0140 a0001c0006t0016 a0001c0026t0152 a0001c0001t0140 a0001c0006t0016 a0001c0026t0152	a0001c0001t0140g0269 a0001c0006t0016g0017 a0001c0006t0016g0061 others(2): Show a0001c0001t0140g0269 a0001c0006t0016g0017 a0001c0006t0016g0061 a0001c0006t0016g0289 a0001c0026t0152g0295	5	298	0.0168	10	c.236 others(29): Show c.2365+2817_2365+2826dupTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01358.hp1 others(6): Show HG00597.hp1 HG00735.hp1 HG01358.hp1 HG01433.hp2 HG02135.hp2 HG02723.hp1 HG02738.hp2 NA18993.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0004t0017 a0002c0002t0003 others(5): Show a0001c0001t0002 a0001c0004t0017 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0015 a0002c0002t0044	a0001c0001t0002g0150 a0001c0004t0017g0078 a0002c0002t0003g0203 others(6): Show a0001c0001t0002g0150 a0001c0004t0017g0078 a0002c0002t0003g0203 a0002c0002t0003g0263 a0002c0002t0005g0228 a0002c0002t0007g0068 a0002c0002t0008g0070 a0002c0002t0015g0005 a0002c0002t0044g0041	9	298	0.0302	10	c.227 others(29): Show c.2270-4594_2270-4585dupATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATACA others(3): Show TATATACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp1 HG06807.hp1 others(1): Show HG01243.hp1 HG03195.hp1 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0026 a0001c0001 a0001c0003 a0001c0026	a0001c0001t0014 a0001c0003t0081 a0001c0026t0152 a0001c0001t0014 a0001c0003t0081 a0001c0026t0152	a0001c0001t0014g0060 a0001c0001t0014g0066 a0001c0003t0081g0080 others(1): Show a0001c0001t0014g0060 a0001c0001t0014g0066 a0001c0003t0081g0080 a0001c0026t0152g0295	4	298	0.0134	10	c.227 others(29): Show c.2270-4619_2270-4618insGTGTGTATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0153 a0001c0004t0153	a0001c0004t0153g0296 a0001c0004t0153g0296	1	298	0.0034	10	c.227 others(29): Show c.2270-4619_2270-4618insGTGTATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 NA20300.hp1 HG01884.hp2 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0014 a0001c0006t0028 a0001c0006t0042 a0001c0004t0014 a0001c0006t0028 a0001c0006t0042	a0001c0004t0014g0063 a0001c0006t0028g0134 a0001c0006t0042g0007 a0001c0004t0014g0063 a0001c0006t0028g0134 a0001c0006t0042g0007	3	298	0.0101	10	c.227 others(29): Show c.2270-4619_2270-4618insGTATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69506868	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp1 HG03710.hp2 others(1): Show HG02572.hp2 HG03139.hp1 HG03710.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0014 a0001c0001t0077 a0001c0001t0144 others(1): Show a0001c0001t0014 a0001c0001t0077 a0001c0001t0144 a0004c0013t0043	a0001c0001t0014g0066 a0001c0001t0077g0072 a0001c0001t0144g0232 others(1): Show a0001c0001t0014g0066 a0001c0001t0077g0072 a0001c0001t0144g0232 a0004c0013t0043g0284	4	298	0.0134	10	c.216 others(27): Show c.2164+543_2164+552dupCACACACACA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	15/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69633217	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	298	0.0034	10	c.163 others(27): Show c.163+9660_163+9661insTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69635337	T T	TGTTGATG others(3): Show TGTTGATGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0169 a0001c0003t0030g0169	1	298	0.0034	10	c.163 others(27): Show c.163+7531_163+7540dupTCCCATCAAC	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar

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