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
AK4_chr1_65143203_65237145	65152378	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp1 NA18906.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0041 a0002c0004t0057 a0002c0003t0041 a0002c0004t0057	a0002c0003t0041g0168 a0002c0004t0057g0243 a0002c0003t0041g0168 a0002c0004t0057g0243	2	300	0.0067	-12	c.145 others(29): Show c.145+3828_145+3839delATATATTTTTTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65152382	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp2 HG03516.hp2 HG02258.hp2 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0257 a0001c0001t0016g0258 a0001c0001t0016g0259 a0001c0001t0016g0257 a0001c0001t0016g0258 a0001c0001t0016g0259	3	300	0.0100	-12	c.145 others(29): Show c.145+3832_145+3843delATTTTTTTTTTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65152384	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 NA21309.hp2 HG02257.hp2 HG02559.hp1 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0019 a0002c0004t0037 a0002c0004t0046 a0002c0004t0019 a0002c0004t0037 a0002c0004t0046	a0002c0004t0019g0208 a0002c0004t0037g0164 a0002c0004t0046g0221 a0002c0004t0019g0208 a0002c0004t0037g0164 a0002c0004t0046g0221	3	300	0.0100	-12	c.145 others(29): Show c.145+3857_145+3868delTTTTTTTTTTTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65166310	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp2 HG03516.hp2 HG02258.hp2 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0257 a0001c0001t0016g0258 a0001c0001t0016g0259 a0001c0001t0016g0257 a0001c0001t0016g0258 a0001c0001t0016g0259	3	300	0.0100	-12	c.145 others(31): Show c.145+17788_145+17799delGTGTGTGTGTGT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65172063	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01515.hp1 others(28): Show HG00140.hp2 HG00738.hp1 HG01515.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02818.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA18955.hp2 NA18977.hp1 NA18999.hp2 NA19010.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0015 a0001c0001t0033 others(15): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0033 a0001c0002t0002 a0002c0003t0003 a0002c0003t0007 a0002c0003t0011 a0002c0003t0024 a0002c0004t0004 a0002c0004t0007 a0002c0004t0015 a0002c0004t0019 a0002c0004t0021 a0002c0004t0037 a0002c0004t0049 a0002c0004t0050 a0002c0004t0057 a0002c0004t0058	a0001c0001t0002g0145 a0001c0001t0015g0254 a0001c0001t0015g0255 others(28): Show a0001c0001t0002g0145 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0033g0161 a0001c0002t0002g0069 a0001c0002t0002g0103 a0001c0002t0002g0119 a0002c0003t0003g0194 a0002c0003t0003g0204 a0002c0003t0003g0233 a0002c0003t0007g0199 a0002c0003t0011g0217 a0002c0003t0011g0240 a0002c0003t0011g0241 a0002c0003t0024g0197 a0002c0003t0024g0205 a0002c0004t0004g0202 a0002c0004t0004g0219 a0002c0004t0004g0224 a0002c0004t0004g0229 a0002c0004t0007g0166 a0002c0004t0007g0218 a0002c0004t0015g0234 a0002c0004t0019g0208 a0002c0004t0021g0193 a0002c0004t0021g0232 a0002c0004t0037g0164 a0002c0004t0049g0237 a0002c0004t0050g0230 a0002c0004t0057g0243 a0002c0004t0058g0231	31	300	0.1033	-12	c.146 others(31): Show c.146-18617_146-18606delATATATATATAT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65183650	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0253 a0001c0001t0034g0253	1	300	0.0033	-12	c.146 others(29): Show c.146-7027_146-7016delGTGTGTGTGTGT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65198068	ATGTGTAG others(5): Show ATGTGTAGGAGGG	A A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0249 a0001c0002t0005g0249	1	300	0.0033	-12	c.265 others(29): Show c.265+7240_265+7251delTGTGTAGGAGGG	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	2/4			chr1	TogoVar
AK5_chr1_77277019_77564966	77332604	ATTATTTA others(5): Show ATTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01928.hp1 HG02486.hp1 others(1): Show HG01891.hp2 HG01928.hp1 HG02486.hp1 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0007 a0002c0004t0002 others(1): Show a0001c0001t0001 a0001c0003t0007 a0002c0004t0002 a0002c0004t0012	a0001c0001t0001g0092 a0001c0003t0007g0132 a0002c0004t0002g0142 others(1): Show a0001c0001t0001g0092 a0001c0003t0007g0132 a0002c0004t0002g0142 a0002c0004t0012g0131	4	284	0.0141	-12	c.700 others(29): Show c.700-7754_700-7743delATTTATTTATTT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77355868	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0265 a0002c0002t0002g0265	1	284	0.0035	-12	c.891 others(31): Show c.891+15326_891+15337delCACACACACACA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77376439	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01981.hp1 HG01934.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0035 a0001c0001t0004g0022 a0001c0001t0004g0035	2	284	0.0070	-12	c.892 others(31): Show c.892-34530_892-34519delCAAAAAAAAAAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391487	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	284	0.0035	-12	c.892 others(31): Show c.892-19492_892-19481delGTGTGTGTATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77423218	CTAAAAAA others(5): Show CTAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01175.hp2 HG01515.hp2 others(21): Show HG00673.hp2 HG01175.hp2 HG01515.hp2 HG01517.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02523.hp2 HG03239.hp2 HG03492.hp1 HG03927.hp1 NA18945.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA19010.hp1 NA19012.hp1 NA19063.hp1 NA19066.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 a0002c0002t0011 a0004c0007t0001	a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0001g0198 others(21): Show a0001c0001t0001g0078 a0001c0001t0001g0108 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0004g0202 a0001c0003t0001g0260 a0001c0003t0001g0261 a0002c0002t0002g0041 a0002c0002t0002g0118 a0002c0002t0002g0203 a0002c0002t0002g0210 a0002c0002t0002g0223 a0002c0002t0005g0148 a0002c0002t0010g0039 a0002c0002t0011g0220 a0004c0007t0001g0215	24	284	0.0845	-12	c.105 others(31): Show c.1059+5515_1059+5526delATAAAAAAAAAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77434107	CATAAATA others(5): Show CATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01070.hp2 others(43): Show HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01169.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG03139.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03704.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18969.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19091.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0003t0004 a0001c0003t0007 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0015 a0002c0002t0016 a0002c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0057 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0003g0171 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0056 a0001c0001t0004g0206 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0230 a0001c0001t0007g0112 a0001c0001t0007g0212 a0001c0003t0004g0236 a0001c0003t0007g0132 a0002c0002t0002g0054 a0002c0002t0002g0065 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0143 a0002c0002t0002g0225 a0002c0002t0002g0266 a0002c0002t0002g0268 a0002c0002t0005g0151 a0002c0002t0005g0163 a0002c0002t0005g0172 a0002c0002t0005g0177 a0002c0002t0008g0107 a0002c0002t0010g0264 a0002c0002t0011g0101 a0002c0002t0011g0141 a0002c0002t0011g0220 a0002c0002t0015g0110 a0002c0002t0016g0126 a0002c0002t0016g0127 a0002c0004t0002g0142 a0002c0004t0002g0241 a0002c0004t0002g0249	46	284	0.1620	-12	c.105 others(33): Show c.1059+16426_1059+16437delTAAATAAATAAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77444341	ACACAATA others(5): Show ACACAATATATGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00609.hp2 others(50): Show HG00323.hp2 HG00597.hp1 HG00609.hp2 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03239.hp2 HG03704.hp1 HG04204.hp2 NA18522.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0021 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0026 a0002c0002t0027 a0002c0004t0002 a0002c0004t0010 a0002c0004t0017 a0002c0004t0018	a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 others(50): Show a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0213 a0001c0001t0003g0187 a0001c0001t0005g0231 a0001c0001t0006g0193 a0001c0001t0006g0227 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0260 a0001c0003t0021g0237 a0002c0002t0002g0009 a0002c0002t0002g0026 a0002c0002t0002g0037 a0002c0002t0002g0053 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0265 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0282 a0002c0002t0005g0173 a0002c0002t0010g0039 a0002c0002t0010g0105 a0002c0002t0011g0101 a0002c0002t0016g0126 a0002c0002t0016g0127 a0002c0002t0026g0156 a0002c0002t0027g0175 a0002c0004t0002g0241 a0002c0004t0002g0245 a0002c0004t0002g0259 a0002c0004t0010g0254 a0002c0004t0017g0200 a0002c0004t0018g0251	53	284	0.1866	-12	c.105 others(33): Show c.1059+26627_1059+26638delCACAATATATGT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470826	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp1 NA20752.hp1 others(1): Show HG03579.hp2 NA19030.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0010 a0002c0002t0025 a0001c0001t0001 a0002c0002t0010 a0002c0002t0025	a0001c0001t0001g0033 a0001c0001t0001g0103 a0002c0002t0010g0105 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0103 a0002c0002t0010g0105 a0002c0002t0025g0277	4	284	0.0141	-12	c.106 others(33): Show c.1060-12452_1060-12441delATATATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77475187	ATATATAT others(5): Show ATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp2 HG02145.hp2 others(4): Show HG00099.hp2 HG01169.hp2 HG02145.hp2 HG02895.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0002c0002t0002 others(2): Show a0001c0001t0004 a0001c0001t0007 a0002c0002t0002 a0002c0002t0012 a0002c0002t0025	a0001c0001t0004g0044 a0001c0001t0007g0112 a0002c0002t0002g0065 others(4): Show a0001c0001t0004g0044 a0001c0001t0007g0112 a0002c0002t0002g0065 a0002c0002t0002g0140 a0002c0002t0002g0196 a0002c0002t0012g0003 a0002c0002t0025g0277	7	284	0.0247	-12	c.106 others(31): Show c.1060-8128_1060-8117delATATATATGTGT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77480119	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02129.hp2 HG02071.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0003g0184 a0001c0001t0001g0048 a0001c0001t0003g0184	2	284	0.0070	-12	c.106 others(31): Show c.1060-3171_1060-3160delGTGTGTGTGTGT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77480529	TGATAGCC others(5): Show TGATAGCCATGTA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01515.hp2 HG01517.hp1 others(8): Show HG00621.hp2 HG01515.hp2 HG01517.hp1 HG02080.hp2 HG02129.hp1 NA18964.hp2 NA18967.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0017 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0017 a0002c0002t0002 a0002c0002t0005 a0002c0004t0002 a0004c0007t0001	a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0108 others(8): Show a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0017g0051 a0002c0002t0002g0203 a0002c0002t0005g0162 a0002c0004t0002g0238 a0004c0007t0001g0215	11	284	0.0387	-12	c.106 others(31): Show c.1060-2785_1060-2774delTAGCCATGTAGA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77482992	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01071.hp2 others(25): Show HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01169.hp1 HG01496.hp2 HG02055.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03942.hp2 HG04228.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0013 a0003c0005t0008 a0003c0005t0009	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0004g0024 a0001c0001t0004g0195 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0003t0004g0253 a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0040 a0002c0002t0002g0097 a0002c0002t0002g0279 a0002c0002t0009g0134 a0002c0002t0009g0137 a0002c0002t0013g0094 a0003c0005t0008g0130 a0003c0005t0009g0005 a0003c0005t0009g0133	28	284	0.0986	-12	c.106 others(29): Show c.1060-288_1060-277delAAAAAAAAAAAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77522701	CACTCTGG others(5): Show CACTCTGGGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18962.hp1 HG00621.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0080 a0001c0001t0003g0179 a0001c0001t0001g0080 a0001c0001t0003g0179	2	284	0.0070	-12	c.142 others(29): Show c.1428+760_1428+771delCTCTGGGCCAGA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77531989	TCCGGCCG others(5): Show TCCGGCCGGCCGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	284	0.0035	-12	c.142 others(31): Show c.1429-3850_1429-3839delGCCGGCCGGCCG	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK6_chr5_69345984_69374520	69373684	AAATTTTT others(5): Show AAATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	421	0.0024	-12	c.-42 others(23): Show c.-4206_-4195delAAAAAAAAAATT	AK6	ENSG00000085231.14	transcript	ENST00000380822.9	protein_coding		4165		chr5	TogoVar
AK7_chr14_96387128_96494427	96434422	GTCTCTCT others(5): Show GTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01891.hp2 others(17): Show HG01167.hp2 HG01169.hp2 HG01891.hp2 HG02109.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02809.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0006t0001 a0001c0006t0004	a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0250 others(17): Show a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0001g0277 a0001c0001t0001g0294 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0237 a0001c0001t0002g0256 a0001c0001t0002g0273 a0001c0001t0002g0280 a0001c0001t0002g0307 a0001c0001t0004g0268 a0001c0001t0008g0279 a0001c0006t0001g0008 a0001c0006t0004g0010	20	316	0.0633	-12	c.610 others(29): Show c.610-3389_610-3378delCTCTCTCTCTCT	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK7_chr14_96387128_96494427	96448630	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG02970.hp2 HG02976.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0165 a0003c0009t0002g0166 a0003c0009t0002g0165 a0003c0009t0002g0166	2	316	0.0063	-12	c.871 others(29): Show c.871-1149_871-1138delAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK7_chr14_96387128_96494427	96457054	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG02257.hp1 others(15): Show HG00099.hp2 HG00733.hp1 HG02257.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG04204.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0014 others(1): Show a0001c0001 a0002c0002 a0002c0014 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0014t0003 a0002c0016t0002	a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0197 others(15): Show a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0197 a0001c0001t0001g0295 a0001c0001t0001g0304 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0057 a0001c0001t0002g0163 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0305 a0001c0001t0002g0312 a0002c0002t0001g0012 a0002c0002t0002g0169 a0002c0002t0005g0063 a0002c0014t0003g0058 a0002c0016t0002g0013	18	316	0.0570	-12	c.122 others(29): Show c.1227+592_1227+603delTTTTTTTTTTTT	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK7_chr14_96387128_96494427	96463139	AAAACAAA others(5): Show AAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	316	0.0032	-12	c.135 others(31): Show c.1357+4947_1357+4958delCAAACAAACAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK8_chr9_132720578_132883284	132739441	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG02523.hp2 others(14): Show HG00323.hp1 HG00558.hp1 HG02523.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03492.hp2 NA18979.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0056 others(14): Show a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0127 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0002g0075 a0002c0002t0001g0011 a0002c0002t0001g0016	17	266	0.0639	-12	c.112 others(33): Show c.1122-11919_1122-11908delTTTTTTTTTTTT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	11/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132796770	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(63): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01433.hp1 HG01515.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02738.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG04199.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19057.hp1 NA19081.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0037 a0001c0001t0001g0092 a0001c0001t0001g0105 others(63): Show a0001c0001t0001g0037 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0011t0001g0169	66	266	0.2481	-12	c.980 others(29): Show c.980-4007_980-3996delGTGTGTGTGTGT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132814278	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02735.hp2 NA19043.hp1 HG02165.hp1 HG02735.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0002g0075 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0002g0075	3	266	0.0113	-12	c.979 others(27): Show c.979+348_979+359delTTTTTTTTTTTT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132831651	AGATGACG others(5): Show AGATGACGGACTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 HG02965.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0209 a0001c0001t0001g0210	2	266	0.0075	-12	c.403 others(29): Show c.403-2937_403-2926delCAGTCCGTCATC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	5/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132846504	GATGAATG others(5): Show GATGAATGAATGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG01192.hp1 others(29): Show HG01074.hp1 HG01175.hp2 HG01192.hp1 HG01433.hp1 HG01515.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02273.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG03139.hp1 HG03209.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG06807.hp1 NA18945.hp2 NA18964.hp1 NA18966.hp2 NA18982.hp1 NA19009.hp2 NA19030.hp2 NA19088.hp1 NA19240.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0008 a0009	a0001c0001 a0002c0002 a0005c0012 others(3): Show a0001c0001 a0002c0002 a0005c0012 a0007c0013 a0008c0008 a0009c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0005c0012t0001 a0007c0013t0001 a0008c0008t0001 a0009c0007t0001	a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 others(29): Show a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0194 a0001c0001t0001g0195 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0002g0013 a0005c0012t0001g0107 a0007c0013t0001g0118 a0008c0008t0001g0005 a0009c0007t0001g0006	32	266	0.1203	-12	c.402 others(29): Show c.402+8341_402+8352delTCATTCATTCAT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	5/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132848132	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18947.hp1 NA18962.hp1 HG02735.hp2 NA18947.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0052 a0001c0001t0001g0143 a0001c0001t0001g0144	3	266	0.0113	-12	c.402 others(29): Show c.402+6713_402+6724delCTTTTTTTTTTT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	5/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132869106	GGAGGTGG others(5): Show GGAGGTGGAGGTT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	266	0.0038	-12	c.170 others(29): Show c.170-2165_170-2154delAACCTCCACCTC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	2/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132881273	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	266	0.0038	-12	c.-30 others(23): Show c.-3030_-3019delCTTTTTTTTTTT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding		2990		chr9	TogoVar
AK9_chr6_109487855_109696202	109500034	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03453.hp2 others(2): Show HG02280.hp1 HG02559.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 others(2): Show a0007c0009t0001g0083 a0007c0009t0001g0084 a0007c0009t0001g0085 a0007c0009t0001g0087 a0007c0009t0001g0088	5	378	0.0132	-12	c.485 others(29): Show c.4850-806_4850-795delGTGTGTGTGTGT	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	35/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109502957	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02818.hp1 HG02615.hp1 HG02630.hp1 HG02818.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0284 a0005c0005t0001g0285 a0005c0005t0001g0286 a0005c0005t0001g0284 a0005c0005t0001g0285 a0005c0005t0001g0286	3	378	0.0079	-12	c.484 others(31): Show c.4849+3358_4849+3369delCACACACACACA	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	35/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109570974	GTGTAGAA others(5): Show GTGTAGAAGACAA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19079.hp2 NA18952.hp2 NA19079.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0188 a0003c0003t0001g0189	2	378	0.0053	-12	c.234 others(31): Show c.2344+2456_2344+2467delTTGTCTTCTACA	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	21/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109606253	AATAGATA others(5): Show AATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG03130.hp1 HG01891.hp1 HG02895.hp2 HG03130.hp1	a0001 a0014 a0001 a0014	a0001c0002 a0014c0018 a0001c0002 a0014c0018	a0001c0002t0002 a0014c0018t0002 a0001c0002t0002 a0014c0018t0002	a0001c0002t0002g0108 a0001c0002t0002g0112 a0014c0018t0002g0113 a0001c0002t0002g0108 a0001c0002t0002g0112 a0014c0018t0002g0113	3	378	0.0079	-12	c.184 others(31): Show c.1842+4100_1842+4111delCTATCTATCTAT	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	17/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109621901	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18962.hp2 NA18969.hp1 NA18951.hp1 NA18962.hp2 NA18969.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0215 a0004c0004t0001g0094 a0004c0004t0001g0178 a0003c0003t0001g0215 a0004c0004t0001g0094 a0004c0004t0001g0178	3	378	0.0079	-12	c.125 others(31): Show c.1255-2677_1255-2666delGTTTTTTTTTTT	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	12/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109684873	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01517.hp2 HG02145.hp1 others(6): Show HG01243.hp1 HG01517.hp2 HG02145.hp1 HG02647.hp2 HG03195.hp2 NA18946.hp1 NA18975.hp2 NA18994.hp2 NA19002.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0011	a0001c0002 a0004c0004 a0006c0006 others(1): Show a0001c0002 a0004c0004 a0006c0006 a0011c0013	a0001c0002t0001 a0004c0004t0001 a0006c0006t0003 others(1): Show a0001c0002t0001 a0004c0004t0001 a0006c0006t0003 a0011c0013t0001	a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 others(6): Show a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0004c0004t0001g0165 a0004c0004t0001g0167 a0006c0006t0003g0017 a0006c0006t0003g0018 a0006c0006t0003g0019 a0011c0013t0001g0090	9	378	0.0238	-12	c.-12 others(29): Show c.-12+6262_-12+6273delTTTTTTTTTTTT	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	1/40			chr6	TogoVar
AKAIN1_chr18_5137911_5202257	5162625	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03704.hp1 HG04184.hp2 HG01167.hp2 HG03704.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0093 a0001c0001t0003g0094 a0001c0001t0003g0203 a0001c0001t0001g0093 a0001c0001t0003g0094 a0001c0001t0003g0203	3	420	0.0071	-12	c.17- others(29): Show c.17-16882_17-16871delACACACACACAC	AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	1/1			chr18	TogoVar
AKAIN1_chr18_5137911_5202257	5192385	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG03540.hp1 others(1): Show HG02572.hp1 HG02809.hp2 HG03540.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0002c0002t0020 a0001c0001t0016 a0002c0002t0020	a0001c0001t0016g0325 a0001c0001t0016g0326 a0002c0002t0020g0031 a0001c0001t0016g0325 a0001c0001t0016g0326 a0002c0002t0020g0031	4	420	0.0095	-12	c.16+ others(27): Show c.16+4641_16+4652delGAAAGAAAGAAA	AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	1/1			chr18	TogoVar
AKAP10_chr17_19899302_19982828	19916154	CAGGTCTA others(5): Show CAGGTCTACTCAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	278	0.0036	-12	c.183 others(31): Show c.1834+3870_1834+3881delTTGAGTAGACCT	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	12/14			chr17	TogoVar
AKAP10_chr17_19899302_19982828	19920855	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG03195.hp2 HG02055.hp2 HG02976.hp1 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235	3	278	0.0108	-12	c.175 others(29): Show c.1752-749_1752-738delTTTTTTTTTTTT	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	11/14			chr17	TogoVar
AKAP10_chr17_19899302_19982828	19946234	ATATTATA others(5): Show ATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	278	0.0036	-12	c.976 others(29): Show c.976+1161_976+1172delATATATATAATA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar
AKAP10_chr17_19899302_19982828	19946236	ATTATATA others(5): Show ATTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18522.hp1 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0265 a0001c0001t0004g0266	2	278	0.0072	-12	c.976 others(29): Show c.976+1159_976+1170delATATATATATAA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar
AKAP10_chr17_19899302_19982828	19946267	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	278	0.0036	-12	c.976 others(29): Show c.976+1128_976+1139delAAAATATATATA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar
AKAP10_chr17_19899302_19982828	19946269	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	278	0.0036	-12	c.976 others(29): Show c.976+1126_976+1137delAAAAAATATATA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar
AKAP10_chr17_19899302_19982828	19946271	ATATATTT others(5): Show ATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	278	0.0036	-12	c.976 others(29): Show c.976+1124_976+1135delAAAAAAAATATA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar
AKAP10_chr17_19899302_19982828	19946273	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	278	0.0036	-12	c.976 others(29): Show c.976+1122_976+1133delAAAAAAAAAATA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar

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