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
ULK1_chr12_131889622_131928150	131917102	G G	GTCGGGTT others(196): Show GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTT CGGC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18960.hp1 NA19084.hp1 NA18956.hp1 NA18960.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0073 a0001c0002t0001g0108 a0001c0002t0001g0039 a0001c0002t0001g0073 a0001c0002t0001g0108	3	344	0.0087	203	c.218 others(218): Show c.2182+44_2182+45insGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917144	G G	GTCGGGTG others(196): Show GTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTG GGGC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	344	0.0029	203	c.218 others(218): Show c.2182+86_2182+87insGTGGGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917146	C C	CGGGTTCG others(196): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGG GCTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	344	0.0029	203	c.218 others(218): Show c.2182+86_2182+87insGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT GGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5A_chr5_176805559_176885898	176871060	C C	CACACCAC others(196): Show CACACCACAGCTTCCCATCTGCCCACACTCGCCCCACACCACAGCTTCCC ATCTGCCCACGCTCACCAACACCACAGCTTCCCATCTGCCCACACTCGCC CCAACACCACAGCTTCCCATCTGCCCACGCTCACCAACACCACAGCTTCA CATCTGCCCACACTCACCAACACCACAGCTTCCCATCTGCCCACACCTGC CCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02451.hp2 others(15): Show HG01884.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013	a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0245 others(15): Show a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0005g0008 a0001c0001t0005g0013 a0001c0001t0005g0023 a0001c0001t0005g0249 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0243 a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247 a0001c0001t0013g0095	18	268	0.0672	203	c.886 others(218): Show c.886+585_886+586insGCTCACCAACACCACAGCTTCCCATCTGCC CACACTCGCCCCAACACCACAGCTTCCCATCTGCCCACGCTCACCAACAC CACAGCTTCACATCTGCCCACACTCACCAACACCACAGCTTCCCATCTGC CCACACCTGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCAC ACCACAGCTTCCCATCTGCCCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871399	C C	CACACCAC others(196): Show CACACCACAGCTTCCCATCTGCCCACACTCGCCCCACACCACAGCTTCCC ATCTGCCCACGCTCACCAACACCACAGCTTCCCATCTGCCCACACTCGCC CCAACACCACAGCTTCCCATCTGCCCACGCTCACCAACACCACAGCTTCA CATCTGCCCACACTCACCAACACCACAGCTTCCCATCTGCCCACACCTGC CCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03130.hp1 HG01167.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0230 a0001c0001t0002g0231	2	268	0.0075	203	c.886 others(219): Show c.886+925_886+1127dupGCTCACCAACACCACAGCTTCCCATCTGC CCACACTCGCCCCAACACCACAGCTTCCCATCTGCCCACGCTCACCAACA CCACAGCTTCACATCTGCCCACACTCACCAACACCACAGCTTCCCATCTG CCCACACCTGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCA CACCACAGCTTCCCATCTGCCCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871459	G G	GCTCACCA others(196): Show GCTCACCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCAACACCAC AGCTTCCCATCTGCCCACACTCACCAACACCACAGCTTCACATCTGCCCA CACTCACCCAACACCACAGCTTCCCATCTGCCCACGCTCACCAACACCAC AGCTTCCCATCTGCCCACACTCGCCCCAACACCACAGCTTCCCATCTGCC CACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	268	0.0037	203	c.886 others(218): Show c.886+992_886+993insACTCACCAACACCACAGCTTCACATCTGCC CACACTCACCCAACACCACAGCTTCCCATCTGCCCACGCTCACCAACACC ACAGCTTCCCATCTGCCCACACTCGCCCCAACACCACAGCTTCCCATCTG CCCACACTCACCAACACCACAGCTTCCCATCTGCCCACACTCGCCCCAAC ACCACAGCTTCCCATCTGCCCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(196): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCC TCCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0208 a0004c0003t0001g0208	1	274	0.0037	203	c.200 others(220): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(196): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCC TCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp2 others(11): Show HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01928.hp2 HG01981.hp1 HG02273.hp2 HG03834.hp2 HG04228.hp1 NA18953.hp1 NA18957.hp1 NA18985.hp2 NA18988.hp2 NA19002.hp1 NA19070.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0002c0019 a0015c0038 a0002c0002 a0002c0019 a0015c0038	a0002c0002t0001 a0002c0019t0001 a0015c0038t0001 a0002c0002t0001 a0002c0019t0001 a0015c0038t0001	a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 others(11): Show a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0171 a0002c0002t0001g0177 a0002c0002t0001g0213 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0246 a0002c0002t0001g0256 a0002c0002t0001g0262 a0002c0002t0001g0270 a0002c0019t0001g0238 a0015c0038t0001g0243	14	274	0.0511	203	c.200 others(220): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(196): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCC TCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	274	0.0037	203	c.200 others(220): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCCTC others(196): Show CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCC TCCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	274	0.0037	203	c.200 others(220): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCCTC others(196): Show CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCC TCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0077 a0004c0003t0001g0077	1	274	0.0037	203	c.200 others(220): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137172	T T	TCATATAT others(196): Show TCATATATATCATATATATATCATATATATCATATATGATACATATATAT ATGATACATGTATCATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATATATC TCATATATGATACATATATATCTCATATATGATACATATATATCATATAT GATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG03139.hp2 HG02109.hp2 HG02970.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0119 a0003c0005t0001g0114 a0003c0005t0001g0115 a0001c0001t0001g0119 a0003c0005t0001g0114 a0003c0005t0001g0115	3	340	0.0088	203	c.856 others(220): Show c.856+1989_856+1990insATATCATATATATCATATATGATACATA TATATATGATACATGTATCATATATGATACATATATATCATATATATGAT ACATATATATCTCATATATGATACATATATATCTCATATATGATACATAT ATATCTCATATATGATACATATATATCTCATATATGATACATATATATCA TATATGATACATATATATCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575460	T T	TGTATACA others(196): Show TGTATACACTGTATACACTGTATATACACTGTATATACAGTGTATGCACT GTATATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTG TATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTAT ATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATA TACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	216	0.0046	203	c.75+ others(220): Show c.75+12736_75+12737insTGTATATACAGTGCATACACTGTATATA CTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACAC TGTATATACTGTATATACAGTGCATACACTGTATATACTGTATATACAGT GCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACAGTG TATATACAGTGTATACAGTGTATAC	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575461	A A	ATATACAC others(196): Show ATATACACTGTATATACACTGTATACACTGTATATACAGTGTATACACTG TATATACAGTGTATGCACTGTATATACAGTATATACAGTATATACAGTGT ATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTATA TACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATAT ACAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	216	0.0046	203	c.75+ others(220): Show c.75+12735_75+12736insCTGTATATACAGTGCATACACTGTATAT ACTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACA CTGTATATACTGTATATACAGTGCATACACTGTATATACTGTATATACTG TATATACAGTGCATACACTGTATATACAGTGTATACACTGTATATACAGT GTATACAGTGTATATACAGTGTATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575461	A A	ATATACAG others(196): Show ATATACAGTGTATATACAGTGTATACACTGTATATACAGTATATATACTG TATATACAGTGTATGCACTGTATATACAGTATATACAGTATATACAGTGT ATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTATA TACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATAT ACAG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	216	0.0046	203	c.75+ others(220): Show c.75+12735_75+12736insCTGTATATACAGTGCATACACTGTATAT ACTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACA CTGTATATACTGTATATACAGTGCATACACTGTATATACTGTATATACTG TATATACAGTGCATACACTGTATATACAGTATATATACTGTATATACAGT GTATACACTGTATATACACTGTATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575467	G G	GCAGTATA others(196): Show GCAGTATATACAGTGTATACACTGTATATACTGTATATACTGTGTATACA GTGTATACACTGTATATACAGTATATACAGTGTATACACTGTATATACAG CATATATACTGTATATACACTGTATATACAGTATATACAGTATATACACT GTATATACAGTATATACAGTATATACACTGTATATACAGTATATACAGTA TATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	216	0.0046	203	c.75+ others(220): Show c.75+12729_75+12730insTATATACTGTATATACTGTATATACAGT GTATATACTGTATATACTGTATATACAGTGTATATACTGTATATACTGTA TATACAGTGTATATACAGTATATATGCTGTATATACAGTGTATACACTGT ATATACTGTATATACAGTGTATACACTGTATACACAGTATATACAGTATA TACAGTGTATACACTGTATATACTG	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(196): Show GTGTATACACTGTATATACAGTATATACACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	216	0.0046	203	c.75+ others(220): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACTGTATATACAGTGCATACACTGTATATACAGTGT ATATACTGTATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(196): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATACAC TGTATATACAGTATATACAGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	216	0.0046	203	c.75+ others(220): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACTGTATATACAGTGTATACACTGTATATACAGTAT ATATACTGTATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(196): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01070.hp1 others(14): Show HG00558.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01952.hp2 HG02148.hp1 HG02965.hp1 HG03017.hp2 HG03669.hp1 HG03710.hp2 NA18986.hp1 NA18993.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0076 others(14): Show a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0006g0061	17	216	0.0787	203	c.75+ others(220): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACTGTATATACAGTGCATACACTGTATATACAGTAT ATATACTGTATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(196): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTGTATACAGTGTATGCACTGTATATACAGT GTATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCAC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18998.hp1 NA18963.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0068 a0001c0001t0012g0067 a0001c0001t0001g0068 a0001c0001t0012g0067	2	216	0.0093	203	c.75+ others(220): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATACACTGTATATACAGTGCATACACTG TATACACTGTATATACTGTATATACAGTGCATACACTGTATATACAGTAT ATATACTGTATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATGC others(196): Show GTGTATGCACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTAT GCAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	216	0.0046	203	c.75+ others(220): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACTGTATATACAGTGCATACACTGTATATACAGTAT ATATACTGTATATACAGTGCATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR7_chr18_56646359_57034792	57024554	A A	ACTATGAT others(196): Show ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAGGATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTAT GTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATA TGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	144	0.0069	203	c.427 others(222): Show c.4270-2450_4270-2449insCTATGATAGTTATGTCCCTTACAGGA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATA GTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAG GGATATGTGACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27			chr18	TogoVar
WDR87_chr19_37879823_37911594	37880983	C C	CTATATAT others(196): Show CTATATATATATATATTATATATATATATAATATATATATATATTATATA TATATATAATATATATATATATTATATATATATATAATATATATATATAT TATATATATATATATAATATATATATATATTATATATATATATAATATAT ATATTATATATATATATTATATATATATAATATATATTATATATATATAA TATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	330	0.0030	203	c.39 others(214): Show c.3948_*3949insTATATTATATATATATAATATATATTATATATAT ATAATATATATATATAATATATATATTATATATATATATAATATATATAT ATATTATATATATATATATAATATATATATATATTATATATATATATAAT ATATATATATATTATATATATATATAATATATATATATATTATATATATA TATAATATATATATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3839		chr19	TogoVar
WDR87_chr19_37879823_37911594	37880989	A A	ATATATAT others(196): Show ATATATATAATATATATATATATAATATATATATATAATATATATATATA TAATAATATATATATATAATATATATATATATAATATATATATATATTAT ATATATATTATATATATTATATATATATTATATATATATAATATATATTA TATATATATAATATATATATAATATATATATTATATATATATAATATATA TATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	330	0.0030	203	c.39 others(214): Show c.3942_*3943insAATATATATATTATATATATATAATATATATATT ATATATATATTATATATATATAATATATATTATATATATATAATATATAT ATAATATATATAATATATATATAATATATATATATATTATATATATATAT ATTATATATATATATTATTATATATATATATATTATATATATATATTATA TATATATATATTATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3833		chr19	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(196): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCC CTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0179 a0001c0001t0009g0180 a0001c0001t0009g0179 a0001c0001t0009g0180	2	246	0.0081	203	c.-10 others(220): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88501492	C C	CCTCCCGC others(196): Show CCTCCCGCAGGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGG CTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATGCGGGG CCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGG GCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTG GGCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01981.hp1 HG01993.hp1 others(1): Show HG01243.hp1 HG01981.hp1 HG01993.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0058 a0001c0001t0001 a0001c0001t0010 a0001c0001t0058	a0001c0001t0001g0065 a0001c0001t0001g0258 a0001c0001t0010g0307 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0258 a0001c0001t0010g0307 a0001c0001t0058g0251	4	318	0.0126	203	c.268 others(222): Show c.268+12350_268+12351insACTGGTGATGATGGAGATAGCGGTCA TGGATGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGATGCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA CATGGGTGCGTGGGCTCTCCCGCAGGT	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(196): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01256.hp1 HG00099.hp1 HG01106.hp2 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0059 a0003c0003t0002g0067 a0003c0003t0002g0072 a0003c0003t0002g0059 a0003c0003t0002g0067 a0003c0003t0002g0072	3	412	0.0073	203	c.-42 others(214): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF665_chr19_53157424_53198358	53194288	C C	CTGCAACC others(196): Show CTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCC GAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCCAATTTTTGTA TTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACT CCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATCTCA GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18999.hp2 HG02040.hp2 NA18999.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0373 a0005c0006t0001g0374 a0005c0006t0001g0373 a0005c0006t0001g0374	2	408	0.0049	203	c.-10 others(214): Show c.-1023_-1022insCGCCTGAGATCCCAGCACTTTGGGAGGCCGAGAC GGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAA AACCCCATCTCTACTAAAAATACAAAAATTGGCCGGGCGTGGTGGCGGGC ACCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAAC CCGGGAGGCGGAGGTTGCA	ZNF665	ENSG00000197497.11	transcript	ENST00000396424.5	protein_coding		931		chr19	TogoVar
ZNF665_chr19_53157424_53198358	53194288	C C	CTGCAACC others(196): Show CTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCC GAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCCAATTTTTGTA TTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACT CCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATCTCA GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02647.hp2 others(11): Show HG01891.hp2 HG02257.hp1 HG02647.hp2 HG02683.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 NA18522.hp2 NA18747.hp1 NA18963.hp1 NA18987.hp2 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0008c0014	a0001c0001t0001 a0001c0001t0014 a0002c0002t0007 others(6): Show a0001c0001t0001 a0001c0001t0014 a0002c0002t0007 a0002c0002t0012 a0002c0002t0037 a0002c0003t0010 a0002c0003t0050 a0003c0004t0004 a0008c0014t0018	a0001c0001t0001g0106 a0001c0001t0001g0140 a0001c0001t0001g0250 others(10): Show a0001c0001t0001g0106 a0001c0001t0001g0140 a0001c0001t0001g0250 a0001c0001t0001g0371 a0001c0001t0014g0251 a0002c0002t0007g0223 a0002c0002t0007g0258 a0002c0002t0012g0259 a0002c0002t0037g0260 a0002c0003t0010g0253 a0002c0003t0050g0257 a0003c0004t0004g0252 a0008c0014t0018g0026	14	408	0.0343	203	c.-10 others(214): Show c.-1023_-1022insCTCCTGAGATCCCAGCACTTTGGGAGGCCGAGAC GGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAA AACCCCATCTCTACTAAAAATACAAAAATTGGCCGGGCGTGGTGGCAGGC ACCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAAC CCGGGAGGCGGAGGTTGCA	ZNF665	ENSG00000197497.11	transcript	ENST00000396424.5	protein_coding		931		chr19	TogoVar
ZNF665_chr19_53157424_53198358	53194288	C C	CTGCAACC others(196): Show CTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCC GAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCCAATTTTTGTA TTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACT CCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATCTCA GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(13): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0013	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0010c0010 a0013c0020	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0002c0003t0020 a0003c0004t0004 a0003c0004t0045 a0010c0010t0006 a0013c0020t0041	a0001c0001t0001g0346 a0002c0002t0002g0265 a0002c0002t0002g0339 others(13): Show a0001c0001t0001g0346 a0002c0002t0002g0265 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0348 a0002c0002t0012g0345 a0002c0003t0020g0337 a0003c0004t0004g0263 a0003c0004t0004g0264 a0003c0004t0045g0347 a0010c0010t0006g0338 a0013c0020t0041g0137	16	408	0.0392	203	c.-10 others(214): Show c.-1023_-1022insCGCCTGAGATCCCAGCACTTTGGGAGGCCGAGAC GGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAA AACCCCATCTCTACTAAAAATACAAAAATTGGCCGGGCGTGGTGGCAGGC ACCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAAC CCGGGAGGCGGAGGTTGCA	ZNF665	ENSG00000197497.11	transcript	ENST00000396424.5	protein_coding		931		chr19	TogoVar
ZNF665_chr19_53157424_53198358	53194288	C C	CTGCAACC others(196): Show CTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCC GAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCCAATTTTTGTA TTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACT TCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATCTCA GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp1 others(68): Show HG00099.hp1 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0010 a0014 a0015 a0016	a0001c0001 a0002c0002 a0002c0003 others(7): Show a0001c0001 a0002c0002 a0002c0003 a0002c0012 a0002c0013 a0003c0004 a0010c0010 a0014c0019 a0015c0018 a0016c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0029 a0001c0001t0031 a0002c0002t0002 a0002c0002t0007 a0002c0002t0021 a0002c0002t0034 a0002c0003t0003 a0002c0003t0011 a0002c0003t0020 a0002c0003t0048 a0002c0012t0019 a0002c0013t0002 a0003c0004t0004 a0003c0004t0047 a0010c0010t0006 a0014c0019t0016 a0015c0018t0002 a0016c0017t0040	a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0161 others(62): Show a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0273 a0001c0001t0005g0160 a0001c0001t0008g0146 a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0029g0142 a0001c0001t0031g0166 a0002c0002t0002g0019 a0002c0002t0002g0030 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0152 a0002c0002t0002g0158 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0007g0190 a0002c0002t0007g0266 a0002c0002t0021g0028 a0002c0002t0034g0180 a0002c0003t0003g0002 a0002c0003t0003g0014 a0002c0003t0003g0029 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0157 a0002c0003t0003g0184 a0002c0003t0003g0372 a0002c0003t0011g0154 a0002c0003t0020g0272 a0002c0003t0048g0150 a0002c0012t0019g0270 a0002c0013t0002g0153 a0003c0004t0004g0151 a0003c0004t0004g0181 a0003c0004t0004g0262 a0003c0004t0004g0335 a0003c0004t0004g0336 a0003c0004t0047g0203 a0010c0010t0006g0271 a0014c0019t0016g0189 a0015c0018t0002g0159 a0016c0017t0040g0179	71	408	0.1740	203	c.-10 others(214): Show c.-1023_-1022insCGCCTGAGATCCCAGCACTTTGGGAGGCCGAGAC GGGCAGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAA AACCCCATCTCTACTAAAAATACAAAAATTGGCCGGGCGTGGTGGCAGGC ACCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAAC CCGGGAGGCGGAGGTTGCA	ZNF665	ENSG00000197497.11	transcript	ENST00000396424.5	protein_coding		931		chr19	TogoVar
ZNF665_chr19_53157424_53198358	53194288	C C	CTGCAACC others(196): Show CTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCC GAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCCAATTTTTGTA TTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACT CCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATCTCA GGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03669.hp1 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0012 a0003c0004 others(1): Show a0002c0003 a0002c0012 a0003c0004 a0003c0009	a0002c0003t0003 a0002c0012t0019 a0003c0004t0044 others(1): Show a0002c0003t0003 a0002c0012t0019 a0003c0004t0044 a0003c0009t0004	a0002c0003t0003g0220 a0002c0012t0019g0135 a0003c0004t0044g0274 others(2): Show a0002c0003t0003g0220 a0002c0012t0019g0135 a0003c0004t0044g0274 a0003c0009t0004g0217 a0003c0009t0004g0218	5	408	0.0123	203	c.-10 others(214): Show c.-1023_-1022insCGCCTGAGATCCCAGCACTTTGGGAGGCCGAGAC GGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAA AACCCCATCTCTACTAAAAATACAAAAATTGGCCGGGCGTGGTGGCAGGC ACCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAAC CCGGGAGGCAGAGGTTGCA	ZNF665	ENSG00000197497.11	transcript	ENST00000396424.5	protein_coding		931		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975400	T T	TATAAATA others(197): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATT TATAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02647.hp2 NA18983.hp1 HG02056.hp2 HG02647.hp2 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0002 a0002c0004t0007 a0002c0003t0001 a0002c0004t0002 a0002c0004t0007	a0002c0003t0001g0067 a0002c0004t0002g0031 a0002c0004t0007g0021 a0002c0003t0001g0067 a0002c0004t0002g0031 a0002c0004t0007g0021	3	306	0.0098	204	c.130 others(223): Show c.1308+1176_1308+1177insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC4_chr13_95014835_95306451	95126885	A A	ATATATTT others(197): Show ATATATTTATATATATTTAAGTACACCAAATATATATATTTATATATATT TAAGTACACCAAATATATATATTTATATATATTTAAGTACACCAAATATA TATATTTATATATATTTAAGTACACCAAATATATATATTTATATATATTT AAGTACACCAAATATATATATTTATATATATTTAAGTACACCAAATATAT ATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0075 a0001c0025t0002g0075	1	248	0.0040	204	c.245 others(225): Show c.2456-10885_2456-10884insAATATATATATTTGGTGTACTTAA ATATATATAAATATATATATTTGGTGTACTTAAATATATATAAATATATA TATTTGGTGTACTTAAATATATATAAATATATATATTTGGTGTACTTAAA TATATATAAATATATATATTTGGTGTACTTAAATATATATAAATATATAT ATTTGGTGTACTTAAATATATATAAATATA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	19/30			chr13	TogoVar
ABR_chr17_998519_1184981	1118580	T T	TCCCTGAA others(197): Show TCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCC CAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGA GTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGC GTTAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	337	0.0030	204	c.246 others(221): Show c.246+6602_246+6603insTTAACGCTGGGGAGAACTCAGGCTCAGG GATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTC GGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGG AGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATA ACGCTGGGAGGAACTCGGGTTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118943	C C	CCCCAGCG others(197): Show CCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGCGTTATCCCTGAGCC TGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCC AGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAG TTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	337	0.0030	204	c.246 others(221): Show c.246+6239_246+6240insAGGAACTCAGGCTCAGGGTTAACGCTGG GGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCAGGGA TAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGG CTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGGG AACTCAGGCTCAGGGATAACGCTGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153721	A A	ACGGGAGG others(197): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCA GGCACACCTGCGGAAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTG GGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCAGGCAC ACCTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	337	0.0030	204	c.61+ others(221): Show c.61+25945_61+25946insCAGGTGTGCCTGGGTCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTTCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAG GTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153721	A A	ACGGGAGG others(197): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCA GGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTG GGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCAGGCAC ACCTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01258.hp2 NA18948.hp1 others(1): Show HG00597.hp1 HG01258.hp2 NA18948.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015	a0001c0001t0002g0209 a0001c0001t0005g0270 a0001c0001t0007g0306 others(1): Show a0001c0001t0002g0209 a0001c0001t0005g0270 a0001c0001t0007g0306 a0001c0001t0015g0265	4	337	0.0119	204	c.61+ others(221): Show c.61+25945_61+25946insCAGGTGTGCCTGGGTCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAG GTGTGCCTGGACCCCCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109210057	A A	ATACGTAT others(197): Show ATACGTATGTGTGTATATATGTGTATATATACACACATACGTATGTGTGT ATATATGTGTATATATACACACATACGTATGTGTGTATATATACGTATAT ACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTATATAC ACATATATGTGTATATACACACGTACATATGTGTATATATGTGTATATAT ACACG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0011 a0001c0016t0011	a0001c0016t0011g0274 a0001c0016t0011g0274	1	308	0.0033	204	c.324 others(221): Show c.3249+704_3249+705insTACGTATGTGTGTATATATGTGTATATA TACACACATACGTATGTGTGTATATATGTGTATATATACACACATACGTA TGTGTGTATATATACGTATATACACACGTGTGTATATACGTATATACACA CGTGTGTATATACGTATATACACATATATGTGTATATACACACGTACATA TGTGTATATATGTGTATATATACACG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109210255	A A	ATGTGTGT others(197): Show ATGTGTGTATATGTATATATGTATATATACACACATGTGTGTATATGTAC ATATACACACATGTGTGTATATGTACATATACACACATGTGTGTATATGT ACATATACACACATGTGTGTATATGTACATATACACACATATCTGTGTGT ATATGTACATATACACACATATCTGTGTGTATATGTATATATACACACAC ATATC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18970.hp2 NA18955.hp1 NA18970.hp2	a0001 a0005 a0001 a0005	a0001c0089 a0005c0019 a0001c0089 a0005c0019	a0001c0089t0002 a0005c0019t0003 a0001c0089t0002 a0005c0019t0003	a0001c0089t0002g0162 a0005c0019t0003g0271 a0001c0089t0002g0162 a0005c0019t0003g0271	2	308	0.0065	204	c.324 others(221): Show c.3249+916_3249+917insTATATGTATATATACACACATGTGTGTA TATGTACATATACACACATGTGTGTATATGTACATATACACACATGTGTG TATATGTACATATACACACATGTGTGTATATGTACATATACACACATATC TGTGTGTATATGTACATATACACACATATCTGTGTGTATATGTATATATA CACACACATATCTGTGTGTATATGTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288275	C C	CCGTGTCT others(197): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	295	0.0034	204	c.52 others(215): Show c.5288_*5289insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288596	T T	TCTGCTCC others(197): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTG CTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCCCCGTCCCCCG TGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	204	c.49 others(215): Show c.4967_*4968insGGACACGGGGGACGGGGCAGAGACACGGGGAATG GAGCAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGG GACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGACAC GGGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGACGGAGC AGAGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3794		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288719	T T	TCCCGTGT others(197): Show TCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCGTCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCGTCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	295	0.0034	204	c.48 others(215): Show c.4844_*4845insGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGACGGAGCAGAGACACGGGGACGGGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGGACGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3671		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289093	C C	CCGTGTCT others(197): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	295	0.0034	204	c.44 others(215): Show c.4470_*4471insACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3297		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(197): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0022 a0001c0005t0002g0022	1	295	0.0034	204	c.43 others(215): Show c.4338_*4339insACGGAGCAGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCAGA GACACGGGGAATGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289606	T T	TCTGCCCC others(197): Show TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0047 a0001c0013t0001g0047	1	295	0.0034	204	c.39 others(215): Show c.3957_*3958insGGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGA CGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGAC ACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGC AGAGACACGGGACGGGGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2784		chr1	TogoVar
ACSS2_chr20_34871612_34932959	34878950	G G	GCTGGAGT others(197): Show GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGCT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	312	0.0032	204	c.178 others(221): Show c.178+2129_178+2332dupTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGCTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(197): Show GGTGTGTCTACACACACCTATATGTACGTGTGTACACACACCTATATGTG CGTGTGTGTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATA TGTGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02523.hp2 NA18943.hp2 others(5): Show HG00735.hp2 HG02523.hp2 NA18943.hp2 NA18960.hp1 NA18962.hp1 NA18985.hp2 NA19076.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0205 a0001c0001t0001g0255 others(5): Show a0001c0001t0001g0127 a0001c0001t0001g0205 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0274 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0329	8	332	0.0241	204	c.130 others(223): Show c.1302+3274_1302+3275insCTACACACACCTATATGTACGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045473	C C	CACACACC others(197): Show CACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTG TACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTG TGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTG TGTGTACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTG TGTGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	332	0.0030	204	c.130 others(223): Show c.1302+3378_1302+3379insGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGT GTGTGTACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGT GTGTGTACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(197): Show GGAGGGAGAGGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0010 a0010	a0010c0096 a0010c0096	a0010c0096t0020 a0010c0096t0020	a0010c0096t0020g0059 a0010c0096t0020g0059	1	354	0.0028	204	c.523 others(223): Show c.523-13463_523-13462insAGAGGGAGACGGAGACGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)