Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	270	0.0037	32	c.185 others(49): Show c.185+1614_185+1615insAAAGAAAGAAAGGAAGAAAGGAAGGAAG GAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGGAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18969.hp1 NA18906.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0050 a0001c0001t0003g0032 a0001c0001t0003g0050	2	270	0.0074	32	c.185 others(49): Show c.185+1614_185+1615insAAAGAAAGGAAGAAAGGAAGGAAGGAAG GAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(25): Show AAAGAAAGGAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	270	0.0037	32	c.185 others(49): Show c.185+1614_185+1615insAAAGGAAGAAAGGAAGGAAGGAAGGAAG GAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGPAT3_chr21_43860223_43992592	43955866	C C	CTCTAACC others(25): Show CTCTAACCTGGGCAACAGTGAGATAATCTGTCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0318 a0001c0001t0055g0318	1	342	0.0029	32	c.-48 others(49): Show c.-48-3767_-48-3736dupTCTAACCTGGGCAACAGTGAGATAATCT GTCT	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPS_chr2_177387773_177548834	177450963	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA20129.hp2 HG03130.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0004 a0001c0002t0004g0005	2	258	0.0078	32	c.870 others(49): Show c.870+5349_870+5350insATATATATATATATATATATATATATAT ATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGRN_chr1_1015120_1061116	1029386	G G	GATCAGTG others(25): Show GATCAGTGTCTATGCAGGCAGGTGGGGGGGGAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	210	0.0048	32	c.464 others(49): Show c.464-5862_464-5861insGACATCAGTGTCTATGCAGGCAGGTGGG GGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1030064	T T	TGTGTGTG others(25): Show TGTGTGTGCAGCGCATGGTGCTGTGAGATCAGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp2 HG02895.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0059 a0004c0057 a0001c0059 a0004c0057	a0001c0059t0001 a0004c0057t0003 a0001c0059t0001 a0004c0057t0003	a0001c0059t0001g0171 a0004c0057t0003g0046 a0001c0059t0001g0171 a0004c0057t0003g0046	2	210	0.0095	32	c.464 others(49): Show c.464-5206_464-5205insCAGCGCATGGTGCTGTGAGATCAGCGTG TGTG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	292	0.0034	32	c.364 others(51): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	220	0.0046	32	c.135 others(49): Show c.135+7728_135+7729insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0177 a0001c0001t0056g0177	1	268	0.0037	32	c.-10 others(49): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	268	0.0037	32	c.-10 others(49): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT TTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03239.hp1 HG03130.hp1 HG03239.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0004 a0004c0003t0007 a0003c0004t0004 a0004c0003t0007	a0003c0004t0004g0180 a0004c0003t0007g0246 a0003c0004t0004g0180 a0004c0003t0007g0246	2	268	0.0075	32	c.-10 others(49): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATTT TTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0024 a0004c0003t0024	a0004c0003t0024g0029 a0004c0003t0024g0029	1	268	0.0037	32	c.-10 others(49): Show c.-10-3204_-10-3203insATATATATATATATATATATTTTTTTTT TTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	442	0.0023	32	c.135 others(47): Show c.135+477_135+478insAAAAAAAAAATATATATATATATATATATA TA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	442	0.0023	32	c.135 others(47): Show c.135+477_135+478insAAAAAAAATATATATATATATATATATATA TA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18906.hp1 HG02293.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0053 a0001c0002t0001g0128 a0001c0001t0002g0053 a0001c0002t0001g0128	2	442	0.0045	32	c.135 others(47): Show c.135+477_135+478insAAAAAATATATATATATATATATATATATA TA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAATATA others(25): Show AAAATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	442	0.0023	32	c.135 others(47): Show c.135+477_135+478insAATATACATATATATATATATATATATATA TA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AATATACA others(25): Show AATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18984.hp1 HG03942.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0330 a0001c0001t0002g0331	2	442	0.0045	32	c.135 others(47): Show c.135+481_135+482insCATATATATATATATATATATATATATATA TA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(25): Show TATACATATATAAATATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18522.hp2 NA18747.hp1 HG02970.hp1 NA18522.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0150 a0001c0001t0013g0227 a0001c0001t0013g0228 a0001c0001t0002g0150 a0001c0001t0013g0227 a0001c0001t0013g0228	3	462	0.0065	32	c.151 others(49): Show c.151+5682_151+5683insTTATATATGTATATATATATTTATATAT GTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK4_chr1_65143203_65237145	65172103	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0271 a0001c0002t0003g0271	1	300	0.0033	32	c.146 others(51): Show c.146-18606_146-18605insATATATATATATATATATATATATAT ATATTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(25): Show ATATATATATATATATATATATAATATATATGT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	284	0.0035	32	c.891 others(51): Show c.891+27011_891+27012insTATATATATATAATATATATGTTATA TATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTATATATGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20805.hp1 HG01496.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0229 a0002c0002t0002g0265 a0001c0001t0003g0229 a0002c0002t0002g0265	2	284	0.0070	32	c.891 others(51): Show c.891+27011_891+27012insTATATATATATATTATATATGTTATA TATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77368245	A A	ATATATAT others(25): Show ATATATATATATATATATATATGTTATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0175 a0002c0002t0027g0175	1	284	0.0035	32	c.891 others(51): Show c.891+27685_891+27686insTATATATATATATGTTATATATATTA TATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391495	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	284	0.0035	32	c.892 others(51): Show c.892-19485_892-19484insGTGTATATATATATATATATATATAT ATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77444237	A A	ATATATAT others(25): Show ATATATATACACAACATATGTGTATATATATAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19066.hp1 NA19063.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0198 a0001c0001t0001g0199	2	284	0.0070	32	c.105 others(53): Show c.1059+26568_1059+26599dupCATATGTGTATATATATAGTATAT ATACACAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp2 HG01952.hp1 others(5): Show HG00280.hp2 HG01255.hp2 HG01952.hp1 HG02698.hp2 HG02809.hp2 HG03516.hp1 NA18955.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0081 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0081 a0001c0001t0001g0121 a0001c0001t0001g0150 a0001c0001t0001g0223 a0001c0001t0001g0315 a0001c0001t0002g0068	8	316	0.0253	32	c.499 others(49): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK8_chr9_132720578_132883284	132822300	A A	AATATATA others(25): Show AATATATACATATATGTGTATGTATATACAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	266	0.0038	32	c.889 others(47): Show c.889+873_889+904dupATTTGTATATACATACACATATATGTATAT AT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AKAP13_chr15_85375603_85754355	85498197	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04228.hp1 NA18962.hp2 HG04199.hp1 HG04228.hp1 NA18962.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0001c0004t0064 a0003c0003t0003 a0001c0004t0001 a0001c0004t0064 a0003c0003t0003	a0001c0004t0001g0040 a0001c0004t0064g0032 a0003c0003t0003g0043 a0001c0004t0001g0040 a0001c0004t0064g0032 a0003c0003t0003g0043	3	314	0.0096	32	c.33+ others(49): Show c.33+12445_33+12446insTATATATATATATATATATATATATATA TATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATAGA others(25): Show GATATAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03492.hp2 NA18971.hp1 others(2): Show HG02129.hp1 HG03492.hp2 NA18971.hp1 NA19062.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0008 a0002c0001t0002 a0002c0001t0007 others(1): Show a0001c0002t0008 a0002c0001t0002 a0002c0001t0007 a0002c0001t0048	a0001c0002t0008g0179 a0002c0001t0002g0185 a0002c0001t0002g0189 others(2): Show a0001c0002t0008g0179 a0002c0001t0002g0185 a0002c0001t0002g0189 a0002c0001t0007g0240 a0002c0001t0048g0164	5	314	0.0159	32	c.33+ others(49): Show c.33+12451_33+12452insGATATATATATATATATATATATATATA TATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03195.hp1 HG02258.hp2 HG03195.hp1	a0004 a0009 a0004 a0009	a0004c0006 a0009c0011 a0004c0006 a0009c0011	a0004c0006t0014 a0009c0011t0043 a0004c0006t0014 a0009c0011t0043	a0004c0006t0014g0093 a0009c0011t0043g0132 a0004c0006t0014g0093 a0009c0011t0043g0132	2	314	0.0064	32	c.33+ others(49): Show c.33+12474_33+12475insATATATATATATATATATATATATATAT ATAT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85504503	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0241 a0002c0001t0002g0241	1	314	0.0032	32	c.34- others(49): Show c.34-16924_34-16893dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP1_chr17_57080246_57126344	57119830	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp1 HG02970.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0011 a0003c0008t0005 a0001c0001t0011 a0003c0008t0005	a0001c0001t0011g0147 a0003c0008t0005g0084 a0001c0001t0011g0147 a0003c0008t0005g0084	2	396	0.0051	32	c.263 others(49): Show c.2638-400_2638-399insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
AKAP3_chr12_4610518_4654051	4624809	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00544.hp2 others(37): Show HG00099.hp2 HG00140.hp1 HG00544.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01106.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG02300.hp2 HG02735.hp2 HG03453.hp2 HG06807.hp2 NA18940.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18979.hp2 NA18982.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp2 NA19070.hp2 NA19081.hp1 NA19083.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0013 a0014 a0015	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009 a0005c0007 a0013c0015 a0014c0019 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0002c0003t0001 a0002c0009t0001 a0005c0007t0002 a0013c0015t0002 a0014c0019t0002 a0015c0018t0002	a0001c0001t0001g0104 a0001c0001t0002g0024 a0001c0002t0001g0127 others(25): Show a0001c0001t0001g0104 a0001c0001t0002g0024 a0001c0002t0001g0127 a0001c0002t0001g0163 a0001c0002t0002g0004 a0001c0002t0002g0029 a0001c0002t0002g0037 a0001c0002t0002g0285 a0001c0002t0002g0306 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0324 a0001c0002t0002g0356 a0001c0002t0007g0268 a0002c0003t0001g0237 a0002c0009t0001g0207 a0002c0009t0001g0223 a0002c0009t0001g0235 a0002c0009t0001g0236 a0005c0007t0002g0002 a0005c0007t0002g0302 a0005c0007t0002g0309 a0005c0007t0002g0311 a0013c0015t0002g0274 a0014c0019t0002g0307 a0015c0018t0002g0354	40	418	0.0957	32	c.240 others(51): Show c.2406+1686_2406+1687insACACACACACACACACACACACACAC ACACAC	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP3_chr12_4610518_4654051	4624824	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(39): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02080.hp2 HG02293.hp2 HG02683.hp2 HG03017.hp1 HG03710.hp1 NA18612.hp2 NA18941.hp1 NA18948.hp2 NA18949.hp2 NA18955.hp2 NA18956.hp2 NA18977.hp2 NA18978.hp1 NA18991.hp2 NA19009.hp1 NA19010.hp2 NA19063.hp2 NA19074.hp2 NA19078.hp2 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 a0001c0001t0001 a0001c0001t0002 a0001c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0002g0003 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0328 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0022t0001g0102	42	418	0.1005	32	c.240 others(51): Show c.2406+1671_2406+1672insTACACACACACACACACACACACACA CACACA	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP6_chr14_32324298_32842684	32361053	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19056.hp2 HG02132.hp1 NA19056.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0004c0013 a0001c0010 a0004c0013	a0001c0010t0005 a0004c0013t0011 a0001c0010t0005 a0004c0013t0011	a0001c0010t0005g0006 a0004c0013t0011g0007 a0001c0010t0005g0006 a0004c0013t0011g0007	2	154	0.0130	32	c.-35 others(51): Show c.-35+31648_-35+31649insTATATATATATATATATATATATATA TATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATAGATA others(25): Show GATAGATAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0027 a0008c0014t0027	a0008c0014t0027g0054 a0008c0014t0027g0054	1	154	0.0065	32	c.-34 others(51): Show c.-34-28766_-34-28765insGATAGATATATATATATATATATATA TATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATAGATA others(25): Show GATAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp1 HG01978.hp2 others(1): Show HG01071.hp2 HG01261.hp1 HG01978.hp2 HG03704.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0003c0005t0011 a0001c0001t0001 a0002c0002t0001 a0003c0005t0011	a0001c0001t0001g0063 a0002c0002t0001g0010 a0002c0002t0001g0046 others(1): Show a0001c0001t0001g0063 a0002c0002t0001g0010 a0002c0002t0001g0046 a0003c0005t0011g0017	4	154	0.0260	32	c.-34 others(51): Show c.-34-28766_-34-28765insGATATATATATATATATATATATATA TATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01993.hp1 HG02280.hp2 others(3): Show HG01261.hp2 HG01993.hp1 HG02280.hp2 HG02572.hp1 HG02895.hp2 HG04228.hp2	a0003 a0004 a0006 others(2): Show a0003 a0004 a0006 a0009 a0024	a0003c0005 a0004c0007 a0006c0008 others(2): Show a0003c0005 a0004c0007 a0006c0008 a0009c0012 a0024c0042	a0003c0005t0002 a0004c0007t0018 a0006c0008t0016 others(2): Show a0003c0005t0002 a0004c0007t0018 a0006c0008t0016 a0009c0012t0039 a0024c0042t0015	a0003c0005t0002g0027 a0003c0005t0002g0122 a0004c0007t0018g0042 others(3): Show a0003c0005t0002g0027 a0003c0005t0002g0122 a0004c0007t0018g0042 a0006c0008t0016g0043 a0009c0012t0039g0136 a0024c0042t0015g0151	6	154	0.0390	32	c.-34 others(51): Show c.-34-28749_-34-28748insATATATATATATATATATATATATAT ATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404694	A A	AGATATAT others(25): Show AGATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0028 a0008c0014t0028	a0008c0014t0028g0021 a0008c0014t0028g0021	1	154	0.0065	32	c.-34 others(51): Show c.-34-28766_-34-28765insGATATATATATATATATATATATATA TATATG	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13			chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404694	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0084 a0001c0010t0001g0084	1	154	0.0065	32	c.-34 others(51): Show c.-34-28749_-34-28748insATATATATATATATGTATATATATAT ATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32466827	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02145.hp2 HG02717.hp2 others(3): Show HG02074.hp1 HG02145.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp2 NA19056.hp1	a0001 a0005 a0007 others(3): Show a0001 a0005 a0007 a0008 a0009 a0012	a0001c0001 a0005c0011 a0007c0015 others(3): Show a0001c0001 a0005c0011 a0007c0015 a0008c0014 a0009c0012 a0012c0048	a0001c0001t0020 a0005c0011t0005 a0007c0015t0008 others(3): Show a0001c0001t0020 a0005c0011t0005 a0007c0015t0008 a0008c0014t0028 a0009c0012t0040 a0012c0048t0034	a0001c0001t0020g0130 a0005c0011t0005g0005 a0007c0015t0008g0127 others(3): Show a0001c0001t0020g0130 a0005c0011t0005g0005 a0007c0015t0008g0127 a0008c0014t0028g0021 a0009c0012t0040g0104 a0012c0048t0034g0118	6	154	0.0390	32	c.324 others(51): Show c.324+33029_324+33030insATATATATATATATATATATATATAT ATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02630.hp1 HG02647.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0030 a0004c0007t0006 a0001c0001t0030 a0004c0007t0006	a0001c0001t0030g0016 a0004c0007t0006g0101 a0001c0001t0030g0016 a0004c0007t0006g0101	2	154	0.0130	32	c.273 others(53): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0004 a0004c0018t0004	a0004c0018t0004g0040 a0004c0018t0004g0040	1	154	0.0065	32	c.358 others(53): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKR1B10_chr7_134522567_134546412	134527015	C C	CTCCCTCC others(25): Show CTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG03516.hp2 others(2): Show HG01099.hp2 HG01891.hp1 HG03516.hp2 NA18612.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0002 a0001c0002t0002g0022 a0001c0002t0002g0023 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0160 a0002c0003t0001g0006	5	448	0.0112	32	c.-89 others(41): Show c.-897_-896insTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding		551		chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134527015	C C	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA18947.hp2 NA18980.hp1 others(4): Show HG02129.hp2 NA18947.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18994.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0066 a0002c0003t0001g0013 a0002c0003t0001g0038 others(2): Show a0001c0001t0001g0066 a0002c0003t0001g0013 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0084	7	448	0.0156	32	c.-89 others(41): Show c.-897_-896insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding		551		chr7	TogoVar
AKR1C3_chr10_5089414_5112686	5108479	C C	CATGTGTA others(25): Show CATGTGTACACATGTATATACATATGCACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03471.hp1 HG02451.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0043 a0001c0001t0002g0060	2	438	0.0046	32	c.97 others(41): Show c.976_*977insATGTGTACACATGTATATACATATGCACACAT	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding		794		chr10	TogoVar
AKT3_chr1_243494724_243855243	243525768	T T	TAAGAAAG others(25): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0058 a0001c0001t0044g0058	1	301	0.0033	32	c.125 others(53): Show c.1252-13374_1252-13343dupTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527886	C C	CACACACA others(25): Show CACACACACACAAGCAAGACTCCATCTCTTAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0055 a0001c0001t0042g0165 a0001c0001t0003g0055 a0001c0001t0042g0165	2	301	0.0066	32	c.125 others(53): Show c.1252-15461_1252-15460insTTTAAGAGATGGAGTCTTGCTTGT GTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527888	C C	CACACACA others(25): Show CACACACACACAAGCAAGACTCCATCTCTTAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	301	0.0033	32	c.125 others(53): Show c.1252-15463_1252-15462insTTTAAGAGATGGAGTCTTGCTTGT GTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686630	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	301	0.0033	32	c.172 others(49): Show c.172+8960_172+8961insATATATATATATATATATATATATATAT ATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar

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