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
FGL1_chr8_17859389_17900524	17875481	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	366	0.0027	24	c.245 others(39): Show c.245-984_245-961dupAAGAAAGAAAGAAAGAAAGAAAGA	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	3/7			chr8	TogoVar
FHAD1_chr1_15242223_15403328	15389447	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02738.hp1 NA18981.hp1 others(1): Show HG01167.hp2 HG02738.hp1 NA18981.hp1 NA18992.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0058	a0002c0007 a0004c0004 a0006c0014 others(1): Show a0002c0007 a0004c0004 a0006c0014 a0058c0106	a0002c0007t0005 a0004c0004t0004 a0006c0014t0005 others(1): Show a0002c0007t0005 a0004c0004t0004 a0006c0014t0005 a0058c0106t0004	a0002c0007t0005g0212 a0004c0004t0004g0029 a0006c0014t0005g0220 others(1): Show a0002c0007t0005g0212 a0004c0004t0004g0029 a0006c0014t0005g0220 a0058c0106t0004g0042	4	294	0.0136	24	c.426 others(43): Show c.4269+1337_4269+1338insAAAAAAAAAAAAAAAAAAAAAAAA	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FHDC1_chr4_152931323_152984671	152949121	T T	TAAGAAGA others(17): Show TAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	438	0.0023	24	c.499 others(41): Show c.499-4376_499-4375insGAAGAAGAAGAAGAAGAAGAAGAA	FHDC1	ENSG00000137460.10	transcript	ENST00000511601.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIP1A_chr4_151404176_151675503	151445849	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00741.hp1 others(9): Show HG00280.hp1 HG00323.hp2 HG00741.hp1 HG01978.hp2 HG02055.hp2 HG02965.hp1 HG03239.hp1 HG03579.hp1 NA18747.hp1 NA18981.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0003 a0001c0001t0006 a0001c0001t0034 others(7): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0034 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0016 a0001c0002t0024 a0001c0002t0025 a0001c0006t0002	a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0006g0054 others(9): Show a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0006g0054 a0001c0001t0034g0097 a0001c0002t0002g0087 a0001c0002t0002g0092 a0001c0002t0006g0024 a0001c0002t0008g0093 a0001c0002t0016g0080 a0001c0002t0024g0026 a0001c0002t0025g0017 a0001c0006t0002g0023	12	252	0.0476	24	c.-35 others(43): Show c.-355-8851_-355-8828dupATATATATATATATATATATATAT	FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIP1A_chr4_151404176_151675503	151518635	T T	TTCCCTCC others(17): Show TTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0246 a0001c0001t0037g0246	1	252	0.0040	24	c.-12 others(45): Show c.-123+35993_-123+36016dupCCCTCCCTCCCTCCCTCCCTCCCT	FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIP1A_chr4_151404176_151675503	151518661	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18747.hp1 NA19068.hp1 HG03654.hp2 NA18747.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0034 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0001t0006g0034 a0001c0002t0002g0086 a0001c0002t0002g0087	3	252	0.0119	24	c.-12 others(45): Show c.-123+36016_-123+36017insCCCTCCCTCCCTCCCTCCCTTCCT	FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIP2B_chr8_22084150_22109911	22106419	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG02027.hp2 others(3): Show HG01123.hp2 HG01192.hp2 HG02027.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0074 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0074 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0146	6	394	0.0152	24	c.34 others(35): Show c.3488_*3489insAAAAAAAAAAAAAAAAAAAAAAAA	FHIP2B	ENSG00000158863.22	transcript	ENST00000289921.8	protein_coding		1509		chr8	TogoVar
FHIP2B_chr8_22084150_22109911	22106446	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	394	0.0025	24	c.35 others(35): Show c.3515_*3516insAAAAAAAAAAAAAAAAAAAAAAAT	FHIP2B	ENSG00000158863.22	transcript	ENST00000289921.8	protein_coding		1536		chr8	TogoVar
FHIT_chr3_59742277_61256452	60029889	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01981.hp1 HG03017.hp2 others(1): Show HG00639.hp1 HG01981.hp1 HG03017.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0003	a0001c0002t0001g0030 a0001c0002t0002g0032 a0001c0002t0006g0041 others(1): Show a0001c0002t0001g0030 a0001c0002t0002g0032 a0001c0002t0006g0041 a0001c0003t0003g0024	4	46	0.0870	24	c.104 others(43): Show c.104-15738_104-15737insGACACACACACACACACACACACA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	5/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60029907	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	46	0.0217	24	c.104 others(43): Show c.104-15756_104-15755insGACACACACACACACACACACACA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	5/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60117158	C C	CTGATAAG others(17): Show CTGATAAGATTTCCAGTAGTTGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02630.hp2 others(2): Show HG01109.hp2 HG02258.hp1 HG02630.hp2 HG02723.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013	a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0003g0026 others(2): Show a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0003g0026 a0001c0001t0011g0004 a0001c0001t0013g0003	5	46	0.1087	24	c.104 others(45): Show c.104-103030_104-103007dupAGCCAACTACTGGAAATCTTATCA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	5/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60195553	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01981.hp2 HG01167.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0043 a0001c0003t0004g0038 a0001c0001t0004g0043 a0001c0003t0004g0038	2	46	0.0435	24	c.104 others(45): Show c.104-181402_104-181401insAATATATATATATATATATATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	5/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60672874	C C	CATGTGTG others(17): Show CATGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	46	0.0217	24	c.-17 others(45): Show c.-17-135896_-17-135895insACACACACACACACACACACACAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60782233	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03225.hp1 HG06807.hp1 HG01169.hp1 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0046 a0001c0001t0003g0016 a0001c0001t0004g0011 a0001c0001t0002g0046 a0001c0001t0003g0016 a0001c0001t0004g0011	3	46	0.0652	24	c.-18 others(43): Show c.-18+39685_-18+39686insTATATATATATATATATATATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60849441	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02145.hp1 HG01071.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0039 a0001c0001t0007g0008 a0001c0001t0006g0039 a0001c0001t0007g0008	2	46	0.0435	24	c.-11 others(45): Show c.-110-27431_-110-27430insATATATATATATATATATATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	61134100	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18906.hp1 HG00735.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0005 a0001c0001t0007 a0001c0002t0005	a0001c0001t0007g0007 a0001c0002t0005g0044 a0001c0001t0007g0007 a0001c0002t0005g0044	2	46	0.0435	24	c.-16 others(45): Show c.-164+66493_-164+66516dupGTGTGTGTGTGTGTGTGTGTGTGT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	2/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	61183318	G G	GTGAATGA others(17): Show GTGAATGAATGAATGAATGAATGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01109.hp2 others(6): Show HG00639.hp1 HG01071.hp2 HG01109.hp2 HG01981.hp1 HG02300.hp2 HG02723.hp1 HG03017.hp2 NA19043.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0002g0002 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0002g0032 a0001c0002t0004g0033 a0001c0003t0003g0024	9	46	0.1957	24	c.-16 others(45): Show c.-164+17298_-164+17299insTTCATTCATTCATTCATTCATTCA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	2/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	61239761	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	46	0.0217	24	c.-21 others(45): Show c.-213+11539_-213+11540insTATATATATATATATATATATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	1/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	61239762	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02280.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0005 a0001c0001t0014g0017 a0001c0001t0003g0005 a0001c0001t0014g0017	2	46	0.0435	24	c.-21 others(45): Show c.-213+11538_-213+11539insATATATATATATATATATATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	1/9			chr3	TogoVar
FHL1_chrX_136142533_136216354	136177013	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0141 a0001c0001t0014g0141	1	212	0.0047	24	c.-27 others(41): Show c.-27+7043_-27+7066dupCACACACACACACACACACACACA	FHL1	ENSG00000022267.19	transcript	ENST00000394155.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
FH_chr1_241492603_241524755	241498694	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp2 HG02922.hp2 others(3): Show HG01109.hp2 HG02809.hp2 HG02922.hp2 NA18983.hp1 NA18984.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0060 a0001c0001t0001g0212 a0001c0001t0001g0225 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0252 a0001c0001t0001g0277 a0001c0003t0001g0203	6	406	0.0148	24	c.139 others(41): Show c.1391-748_1391-725dupATATATATATATATATATATATAT	FH	ENSG00000091483.8	transcript	ENST00000366560.4	protein_coding	9/9			chr1	TogoVar
FIGN_chr2_163597611_163741008	163669015	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02258.hp1 NA20129.hp2 HG01106.hp1 HG02258.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 a0001c0001t0001 a0001c0001t0011 a0001c0001t0021	a0001c0001t0001g0175 a0001c0001t0011g0172 a0001c0001t0021g0243 a0001c0001t0001g0175 a0001c0001t0011g0172 a0001c0001t0021g0243	3	266	0.0113	24	c.26- others(41): Show c.26-57210_26-57209insATATATATATATATATATATATAT	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FIGN_chr2_163597611_163741008	163704625	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03139.hp2 HG03927.hp1 others(1): Show HG02135.hp1 HG03139.hp2 HG03927.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0057 a0001c0001t0003g0070 a0001c0001t0004g0223 others(1): Show a0001c0001t0001g0057 a0001c0001t0003g0070 a0001c0001t0004g0223 a0001c0001t0022g0217	4	266	0.0150	24	c.25+ others(41): Show c.25+30254_25+30277dupGAGAGAGAGAGAGAGAGAGAGAGA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FILIP1L_chr3_99823811_100119501	99984048	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01928.hp1 others(17): Show HG01257.hp1 HG01258.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp2 HG02886.hp2 HG03139.hp1 HG04184.hp1 NA18612.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18990.hp1 NA19007.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024	a0001c0001t0001g0059 a0001c0001t0001g0180 a0001c0001t0001g0190 others(17): Show a0001c0001t0001g0059 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0146 a0001c0001t0004g0171 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0024g0257	20	258	0.0775	24	c.-10 others(43): Show c.-10-53019_-10-53018insCACACACACACACACACACACACA	FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	1/5			chr3	TogoVar
FILIP1L_chr3_99823811_100119501	100021960	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	258	0.0039	24	c.-10 others(43): Show c.-10-90931_-10-90930insTCTCTCTCTCTCACACACACACAC	FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	1/5			chr3	TogoVar
FILIP1_chr6_75303090_75498800	75372621	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	306	0.0033	24	c.277 others(41): Show c.277-9728_277-9705dupCTTTCTTTCTTTCTTTCTTTCTTT	FILIP1	ENSG00000118407.15	transcript	ENST00000237172.12	protein_coding	2/5			chr6	TogoVar
FIP1L1_chr4_53372641_53465862	53381753	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	392	0.0026	24	c.171 others(39): Show c.171-524_171-501dupTTTTTTTTTTTTTTTTTTTTTTTT	FIP1L1	ENSG00000145216.17	transcript	ENST00000337488.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FIRRM_chr1_169790040_169859080	169810834	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	420	0.0024	24	c.702 others(41): Show c.702+2918_702+2941dupTTTTTTTTTTTTTTTTTTTTTTTT	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIRRM_chr1_169790040_169859080	169811674	A A	AATCTAAA others(17): Show AATCTAAATAGATAATAGACAGATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02486.hp1 others(7): Show HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0006g0363 others(7): Show a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0006g0363 a0001c0001t0006g0364 a0001c0001t0006g0365 a0001c0001t0006g0366 a0001c0001t0007g0163 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0166	10	420	0.0238	24	c.702 others(41): Show c.702+3871_702+3894dupAATAGATAATAGACAGATTATCTA	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FITM1_chr14_24125659_24137847	24135105	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	396	0.0025	24	c.22 others(35): Show c.2282_*2283insACACACACACACACACACACACAC	FITM1	ENSG00000139914.7	transcript	ENST00000267426.6	protein_coding		2259		chr14	TogoVar
FKBP3_chr14_45110599_45139481	45127115	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02486.hp1 others(4): Show HG01106.hp1 HG01884.hp1 HG02486.hp1 HG02723.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(4): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156	7	304	0.0230	24	c.318 others(41): Show c.318+2678_318+2679insAAAAAAAAAAAAAAAAAAAAAAAA	FKBP3	ENSG00000100442.11	transcript	ENST00000396062.4	protein_coding	3/6			chr14	TogoVar
FKBP5_chr6_35568590_35693915	35666394	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03453.hp2 NA18998.hp2 others(1): Show HG02056.hp2 HG03453.hp2 NA18998.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0271 a0001c0001t0001g0275 others(1): Show a0001c0001t0001g0248 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0288	4	302	0.0133	24	c.-20 others(43): Show c.-20+22386_-20+22409dupTTTTTTTTTTTTTTTTTTTTTTTT	FKBP5	ENSG00000096060.15	transcript	ENST00000357266.9	protein_coding	1/10			chr6	TogoVar
FKBP8_chr19_18526763_18548573	18543727	T T	TGGGGCTG others(17): Show TGGGGCTGGGGCGGGGGCTGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01884.hp2 HG01891.hp1 others(16): Show HG01361.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp1 NA18970.hp1 NA18983.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0004g0109 a0002c0002t0001g0044	19	390	0.0487	24	c.-29 others(33): Show c.-291_-268dupCGCCCCAGCCCCCGCCCCAGCCCC	FKBP8	ENSG00000105701.16	transcript	ENST00000608443.6	protein_coding		155		chr19	TogoVar
FKBP8_chr19_18526763_18548573	18543769	T T	TGGGGCGG others(17): Show TGGGGCGGGGGCTGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0151 a0004c0013t0001g0151	1	390	0.0026	24	c.-31 others(33): Show c.-310_-309insCGCCCCCGCCCCAGCCCCCGCCCC	FKBP8	ENSG00000105701.16	transcript	ENST00000608443.6	protein_coding		197		chr19	TogoVar
FKBP9_chr7_32952440_33011928	32965866	T T	TATATATG others(17): Show TATATATGTATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG02622.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0180 a0001c0001t0013g0179 a0001c0001t0002g0180 a0001c0001t0013g0179	2	430	0.0047	24	c.221 others(41): Show c.221+8073_221+8074insTATATGTATACACATATATATACA	FKBP9	ENSG00000122642.11	transcript	ENST00000242209.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
FKBP9_chr7_32952440_33011928	32965866	T T	TATATATG others(17): Show TATATATGTGTACACATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0178 a0001c0001t0050g0178	1	430	0.0023	24	c.221 others(41): Show c.221+8073_221+8074insTATATGTGTACACATATATATACA	FKBP9	ENSG00000122642.11	transcript	ENST00000242209.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
FKBP9_chr7_32952440_33011928	32977870	C C	CATGTATA others(17): Show CATGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0203 a0001c0001t0006g0203	1	430	0.0023	24	c.703 others(41): Show c.703+1373_703+1374insGTATATATATATATATATATATAT	FKBP9	ENSG00000122642.11	transcript	ENST00000242209.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
FKBP9_chr7_32952440_33011928	32996606	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 HG02895.hp2 others(1): Show HG01123.hp1 HG01255.hp1 HG02895.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0090 a0001c0001t0002g0343 a0001c0001t0005g0334 others(1): Show a0001c0001t0002g0090 a0001c0001t0002g0343 a0001c0001t0005g0334 a0001c0001t0015g0159	4	430	0.0093	24	c.122 others(41): Show c.1226+288_1226+311dupCCTTCCTTCCTTCCTTCCTTCCTT	FKBP9	ENSG00000122642.11	transcript	ENST00000242209.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
FLACC1_chr2_201283271_201362345	201309925	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp2 HG01358.hp2 others(16): Show HG00738.hp2 HG01258.hp2 HG01358.hp2 HG02056.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG03490.hp1 HG03688.hp1 NA18612.hp1 NA18939.hp1 NA18943.hp1 NA18952.hp1 NA18974.hp1 NA19004.hp2 NA19005.hp2 NA19077.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0005 a0001c0001t0001 a0001c0001t0005 a0002c0002t0005	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0073 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0005g0242 a0001c0001t0005g0243 a0002c0002t0005g0206	19	370	0.0514	24	c.676 others(39): Show c.676-676_676-675insCTTTTTTTTTTTTTTTTTTTTTTT	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding	9/14			chr2	TogoVar
FLI1_chr11_128689072_128818267	128784268	C C	CCTCCTCC others(17): Show CCTCCTCCTCCTCCTCCTGCTGCTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0304 a0001c0003t0001g0304	1	328	0.0031	24	c.655 others(41): Show c.655+2247_655+2248insCCTCCTCCTCCTCCTGCTGCTGCT	FLI1	ENSG00000151702.18	transcript	ENST00000527786.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FLNA_chrX_154343531_154379634	154361046	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18951.hp1 HG00735.hp1 NA18951.hp1	a0001 a0016 a0001 a0016	a0001c0002 a0016c0030 a0001c0002 a0016c0030	a0001c0002t0002 a0016c0030t0002 a0001c0002t0002 a0016c0030t0002	a0001c0002t0002g0169 a0016c0030t0002g0173 a0001c0002t0002g0169 a0016c0030t0002g0173	2	279	0.0072	24	c.320 others(41): Show c.3207+238_3207+261dupTTTTTTTTTTTTTTTTTTTTTTTT	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	21/47			chrX	TogoVar
FLNB_chr3_58003422_58177251	58095229	G G	GTATTTAT others(17): Show GTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0001 a0027c0039t0001	a0027c0039t0001g0067 a0027c0039t0001g0067	1	180	0.0056	24	c.906 others(39): Show c.906+280_906+303dupTATTTATTTATTTATTTATTTATT	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	5/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLNB_chr3_58003422_58177251	58100373	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA19043.hp2 HG01071.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0037 a0001c0001 a0005c0037	a0001c0001t0001 a0005c0037t0003 a0001c0001t0001 a0005c0037t0003	a0001c0001t0001g0132 a0005c0037t0003g0129 a0001c0001t0001g0132 a0005c0037t0003g0129	2	180	0.0111	24	c.134 others(43): Show c.1345+1466_1345+1467insAAAAAATATATATATATATATATA	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	8/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLNB_chr3_58003422_58177251	58100373	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01081.hp2 others(9): Show HG00408.hp1 HG00408.hp2 HG01081.hp2 HG01123.hp2 HG02970.hp1 HG03209.hp2 NA18906.hp1 NA18942.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0030 a0003c0005 a0001c0001 a0001c0030 a0003c0005	a0001c0001t0001 a0001c0030t0003 a0003c0005t0001 a0001c0001t0001 a0001c0030t0003 a0003c0005t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0038 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0030t0003g0128 a0003c0005t0001g0043	12	180	0.0667	24	c.134 others(43): Show c.1345+1466_1345+1467insAAAATATATATATATATATATATA	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	8/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLNB_chr3_58003422_58177251	58100373	A A	AAAAATAT others(17): Show AAAAATATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0001 a0025c0029t0001	a0025c0029t0001g0008 a0025c0029t0001g0008	1	180	0.0056	24	c.134 others(43): Show c.1345+1466_1345+1467insAAATATAATATATATATATATATA	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	8/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLNB_chr3_58003422_58177251	58100373	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19004.hp1 HG03209.hp1 NA19004.hp1	a0002 a0003 a0002 a0003	a0002c0012 a0003c0005 a0002c0012 a0003c0005	a0002c0012t0002 a0003c0005t0001 a0002c0012t0002 a0003c0005t0001	a0002c0012t0002g0118 a0003c0005t0001g0100 a0002c0012t0002g0118 a0003c0005t0001g0100	2	180	0.0111	24	c.134 others(43): Show c.1345+1466_1345+1467insAATATATATATATATATATATATA	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	8/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLNB_chr3_58003422_58177251	58100373	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG01516.hp1 others(4): Show HG01106.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG03139.hp1 HG03225.hp2 HG03490.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0002c0012 a0006c0017 others(1): Show a0002c0003 a0002c0012 a0006c0017 a0006c0049	a0002c0003t0002 a0002c0012t0002 a0006c0017t0006 others(1): Show a0002c0003t0002 a0002c0012t0002 a0006c0017t0006 a0006c0049t0002	a0002c0003t0002g0052 a0002c0003t0002g0138 a0002c0003t0002g0139 others(4): Show a0002c0003t0002g0052 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0002g0141 a0002c0012t0002g0152 a0006c0017t0006g0057 a0006c0049t0002g0023	7	180	0.0389	24	c.134 others(43): Show c.1345+1477_1345+1478insATATATATATATATATATATATAT	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	8/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLNB_chr3_58003422_58177251	58106352	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02109.hp1 HG00280.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0001 a0002c0002t0002 a0002c0004t0001	a0002c0002t0002g0150 a0002c0004t0001g0156 a0002c0002t0002g0150 a0002c0004t0001g0156	2	180	0.0111	24	c.174 others(41): Show c.1748-326_1748-303dupATATATATATATATATATATATAT	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	11/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLOT1_chr6_30722709_30747687	30737246	G G	GTCCGTCC others(17): Show GTCCGTCCGTCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	441	0.0023	24	c.723 others(41): Show c.723+2911_723+2912insTGGATGGATGGATGGACGGACGGA	FLOT1	ENSG00000137312.15	transcript	ENST00000376389.8	protein_coding	8/12			chr6	TogoVar
FLOT1_chr6_30722709_30747687	30746541	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	441	0.0023	24	c.-40 others(35): Show c.-4030_-4029insATATATATATATATATATATATAT	FLOT1	ENSG00000137312.15	transcript	ENST00000376389.8	protein_coding		3855		chr6	TogoVar

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