Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AGAP1_chr2_235489043_236136793	235597784	G G	GTGTTTCC others(197): Show GTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTG GAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTC CCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTG TGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGC TCCCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0050 a0001c0005t0013g0050	1	79	0.0127	204	c.163 others(225): Show c.163+103079_163+103080insTTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGT GGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCT CCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGT GTGGAGCGTGCACGCGCTCCCGTGTTTCCT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235597784	G G	GTGTTTCC others(197): Show GTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTG GAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGTTC CCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTG TGGAGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGC TCCCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	79	0.0127	204	c.163 others(225): Show c.163+103031_163+103032insTTCCCGTGTTTCCTTTGTGTGGAG CGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCG TGTTTCCTTTGTGTGGAGCGTGCACGCGCTCCCTTGTTTCCTTTGTGTGG AGCGTGCACGCGCTCCCGTGTTTCCTTTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCTTTGTGTGGAGCGTGCACGCG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGMO_chr7_15195317_15567015	15530098	G G	GATATTCT others(197): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACGTATT TCCAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp1 HG01109.hp2 others(13): Show HG00558.hp1 HG01106.hp1 HG01109.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp2 HG02717.hp2 HG02735.hp1 HG03471.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA19084.hp1 NA19088.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0015	a0001c0001 a0001c0003 a0003c0006 others(2): Show a0001c0001 a0001c0003 a0003c0006 a0008c0015 a0015c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0003c0006t0004 a0008c0015t0006 a0015c0013t0006	a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 others(13): Show a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0165 a0001c0001t0002g0079 a0001c0003t0001g0065 a0003c0006t0004g0067 a0008c0015t0006g0230 a0015c0013t0006g0229	16	183	0.0874	204	c.409 others(223): Show c.409+14673_409+14674insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(197): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	193	0.0052	204	c.409 others(223): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATATGGAAATACGTATATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(197): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATACACGTATTTCCATATAGATATTC TATAC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	193	0.0052	204	c.409 others(223): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TGTATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATCTATATGGAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530163	T T	TACGTATT others(197): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	226	0.0044	204	c.409 others(223): Show c.409+14608_409+14609insGTATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATCTATATGGAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(197): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAG AAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAA AGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	73	0.0137	204	c.185 others(221): Show c.185+1614_185+1615insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAG AAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049050	T T	TGCAGCTC others(197): Show TGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGG CGGGGAGGGGACGGGGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGT GGGGTGGGGACGGGGGCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGG CCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGAGGGGGGGG CCGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0030 a0030	a0030c0061 a0030c0061	a0030c0061t0004 a0030c0061t0004	a0030c0061t0004g0169 a0030c0061t0004g0169	1	200	0.0050	204	c.429 others(219): Show c.4298+55_4298+56insGGGGGGAGGGGGGGGCCGGGGCAGCTCAGG TGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTGGGCGGGGAGGGGA CGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGAGGG GGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGC TCAGGTGGGCGGGGAGGGGACGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHRR_chr5_316714_443285	415395	G G	GTCTCCCT others(197): Show GTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGG GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGG CCGAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	233	0.0043	204	c.441 others(221): Show c.441+1965_441+1966insCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTG CTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTC TGCTGGGAGGCCTAGGGGCCGAATCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(197): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT GGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0020 a0002c0002t0006g0020	1	195	0.0051	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(197): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGG GCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGT GGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0007	a0004c0003t0007g0220 a0004c0003t0007g0220	1	195	0.0051	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT CCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415429	A A	ATCTGCCT others(197): Show ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCG GAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTG CTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGG CGGAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG01081.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0258 a0001c0001t0003g0260	2	224	0.0089	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGG CCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGA GGCCTAGGGGCGGAGTCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415433	G G	GCCTGGTC others(197): Show GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGA GGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA GTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0195 a0003c0004t0016g0195	1	226	0.0044	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAGTCTCCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(197): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(10): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG01070.hp1 HG01106.hp2 HG01123.hp1 HG01261.hp2 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG04204.hp2 NA18970.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 a0001c0001t0041 a0001c0008t0025 a0003c0004t0004	a0001c0001t0002g0137 a0001c0001t0005g0068 a0001c0001t0005g0069 others(10): Show a0001c0001t0002g0137 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0113 a0001c0001t0005g0179 a0001c0001t0029g0012 a0001c0001t0029g0013 a0001c0001t0041g0201 a0001c0008t0025g0158 a0001c0008t0025g0159 a0003c0004t0004g0187	13	204	0.0637	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(197): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCGGAGTCTGCC TGGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0182 a0001c0001t0061g0182	1	192	0.0052	204	c.441 others(221): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGA GGCCTAGGGGCGGAGTCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415478	T T	TGGGAGGC others(197): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGC GGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGG GCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT CGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02293.hp2 HG03710.hp2 others(1): Show HG01109.hp2 HG02293.hp2 HG03710.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0070 a0001c0001t0003g0072 others(1): Show a0001c0001t0003g0054 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073	4	135	0.0296	204	c.441 others(221): Show c.441+2063_441+2064insATCTGCCTGGTCGGGCGGGAGGCCTAGG GGCGGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTA GGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK8_chr9_132720578_132883284	132813070	G G	GCTCACTG others(197): Show GCTCACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCACCGCAG ACACCCAGGACCAGACCCGCTCACTGCCCTGCACCTACACAGATCACCTC ATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCTCTCACTGCCCTGC ACCTACAGAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAG ACCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00558.hp2 others(39): Show HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02630.hp2 HG02735.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03654.hp2 HG04184.hp2 NA18522.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19005.hp2 NA19068.hp1 NA19079.hp1 NA19088.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(39): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096	42	230	0.1826	204	c.979 others(221): Show c.979+1567_979+1568insGAGGTCTGGTCCTGGGTGTCTGCGGTGG CCACAGAATGAGGTGATCTCTGTAGGTGCAGGGCAGTGAGAGGGTCTGGT CCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGTGCAGG GCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGT GATCTGTGTAGGCTCAGGGCAGTGAG	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AKAP6_chr14_32324298_32842684	32629800	C C	CTGTTATT others(197): Show CTGTTATTAGACACAAACTGCTCTGAAGTCTTCTATTAGAATTAGGGCTG GGTGAAAGATTTCTAGGAAATAATTTTAACCTGGACCACTGAAAGGTTTA GGGAAAAAAAGAAAGGAAGGAAGTTCTGTCTTTTGTTTTTGCCTTTATTT TTATTTTTTTTAAGGTGAAAAGGCCTGTTTATATGGCTAGATTTGCATGC ATTTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0031 a0004c0024t0031	a0004c0024t0031g0113 a0004c0024t0031g0113	1	152	0.0066	204	c.273 others(225): Show c.2730+29008_2730+29009insTGTTATTAGACACAAACTGCTCTG AAGTCTTCTATTAGAATTAGGGCTGGGTGAAAGATTTCTAGGAAATAATT TTAACCTGGACCACTGAAAGGTTTAGGGAAAAAAAGAAAGGAAGGAAGTT CTGTCTTTTGTTTTTGCCTTTATTTTTATTTTTTTTAAGGTGAAAAGGCC TGTTTATATGGCTAGATTTGCATGCATTTG	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13			chr14	TogoVar
ANKLE2_chr12_132720503_132766832	132727539	C C	CGCTCCGG others(197): Show CGCTCCGGGCGGAGGAGAGGGCATTGCTGAACCCTGGCACCTGCGGGCAC ATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGGCA CACGCGCCCGGGTGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCA CACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCA CACGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0181 a0009c0015t0001g0181	1	127	0.0079	204	c.261 others(219): Show c.2616-97_2616-96insACGTGTGCCCACGGTGCCAGGGTTCAGCAG TGCATCTCCTCCATCCGGGCGCGTGTGCCCGCGGTGCCAGGGTTCAGCAG TGCCTCTCCTCCACCCGGGCGCGTGTGCCCCACGGTGCCAGGGTTCAGCA GTGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCAGGTGCCAGGGTTCAGC AATGCCCTCTCCTCCGCCCGGAGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132727543	C C	CGGGCGGG others(197): Show CGGGCGGGGAGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATGCGC CCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACGCGC CCGGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACGCG CCCGGATGGAGGAGATGCACTGCTGAACCCTGGCAACCGTGGGCACACGT GCCCG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	348	0.0029	204	c.261 others(221): Show c.2616-101_2616-100insCGGGCACGTGTGCCCACGGTTGCCAGGG TTCAGCAGTGCATCTCCTCCATCCGGGCGCGTGTGCCCACGGTGCCAGGG TTCAGCAGTGCCTCTCCTCCGCCCCGGGCGCGTGTGCCCACGGTGCCAGG GTTCAGCAGTGCGTCTCCTCCGTCCGGGCGCATGTGCCCGCGGTGCCAGG GTTCAGCAATGCCTCTCTCCCCGCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	12/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(197): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATACTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATTTTTATATAAAATATCAG TATTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0324 a0003c0003t0001g0324	1	319	0.0031	204	c.181 others(221): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAGTATACATAAAATACTGATATTTTATATAAAAA TATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATAC GTGTATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(197): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATTTTTATATAAAATATCAG TATTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	319	0.0031	204	c.181 others(221): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAATATACATAAAATACTGATATTTTATATAAAAA TATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATAC GTGTATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD62_chr18_12088843_12134764	12094523	C C	CTGTGGTG others(197): Show CTGTGGTGGGGGTAGAGTTGGGTGAGGGACTGTGGTGGGGAGTGGAGTGA GGGTGGGTTGGGGGTGGAGGACTGGTGGGGGGGTGGGATGGGGTGGGGGA CTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTG GGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGG GACTG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0067 a0005c0005t0003g0067	1	203	0.0049	204	c.218 others(219): Show c.218+290_218+291insTGGTGGGGGTAGAGTTGGGTGAGGGACTGT GGTGGGGAGTGGAGTGAGGGTGGGTTGGGGGTGGAGGACTGGTGGGGGGG TGGGATGGGGTGGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGT ATTAGGAGGTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGG GGTGGGATGGGGTGGGGGACTGTG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
AOC2_chr17_42839580_42855707	42848524	A A	AATATATA others(197): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATGTA TATATATATATATACATGTATATATATATATACGTATATATATATATACA TGTATATATATATATATGTATATATATATATATACATGTATATATATATA TACGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	249	0.0040	204	c.158 others(221): Show c.1589-551_1589-550insCATATATATATATATATGTATATATATA TATATACATGTATATATATATATGTATATATATATATATACATGTATATA TATATATGTATATATATATATATACATGTATATATATATATACGTATATA TATATATACATGTATATATATATATATGTATATATATATATATACATGTA TATATATATATACGTATATATATATA	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848524	A A	AATATATA others(197): Show AATATATATATACATATATATATATATATGTATATATATATATATACATG TATATATATATATGTATATATATATATATACATGTATATATATATATGTA TATATATATATATACATGTATATATATATATACGTATATATATATATACA TGTATATATATATATATGTATATATATATATATACATGTATATATATATA TACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0008 a0002c0007t0002g0008	1	238	0.0042	204	c.-28 others(215): Show c.-2820_-2819insATATATATATACATATATATATATATATGTATAT ATATATATATACATGTATATATATATATGTATATATATATATATACATGT ATATATATATATGTATATATATATATATACATGTATATATATATATACGT ATATATATATATACATGTATATATATATATATGTATATATATATATATAC ATGTATATATATATATACGT	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		2674		chr17	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(197): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATAATATATAT TATATATAATTGTATATATAATATATATTATATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	34	0.0294	204	c.-12 others(215): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATAATATATATTATATATAATTGTATATATAATATATATTATATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310905	T T	TATATAAT others(197): Show TATATAATATATATTATATATAATTGTATATATAATATATATTATATATA ATTGTATATATAATATATATTATATATAATTGTATATATAATATATATTA TATATATAATTGTATATATAATATATATTATATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0226 a0001c0001t0007g0226	1	381	0.0026	204	c.-12 others(215): Show c.-1223_-1222insATATAATATATATTATATATAATTGTATATATAA TATATATTATATATAATTGTATATATAATATATATTATATATAATTGTAT ATATAATATATATTATATATATAATTGTATATATAATATATATTATATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTAC	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1090		chr11	TogoVar
API5_chr11_43306996_43349529	43310907	T T	TATAATAT others(197): Show TATAATATATATTATATATAATTGTATATATAATATATATTATATATAAT TGTATATATAATATATATTATATATAATTGTATATATAATATATATTATA TATACAATTGTATATATAATATATATTATATATATAATTGTATATATAAT ATATATTATATATATAATTGTATATATAATATATATTATATATATAATTG TATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	382	0.0026	204	c.-12 others(215): Show c.-1221_-1220insATAATATATATTATATATAATTGTATATATAATA TATATTATATATAATTGTATATATAATATATATTATATATAATTGTATAT ATAATATATATTATATATACAATTGTATATATAATATATATTATATATAT AATTGTATATATAATATATATTATATATATAATTGTATATATAATATATA TTATATATATAATTGTATAC	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1088		chr11	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGAAGG others(197): Show AAGGAAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 NA18612.hp1 others(7): Show HG00438.hp2 HG00621.hp2 NA18612.hp1 NA18950.hp1 NA18980.hp1 NA18986.hp1 NA18987.hp1 NA19056.hp1 NA19063.hp2 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0044 a0003c0003t0003g0046 a0003c0003t0003g0047 others(7): Show a0003c0003t0003g0044 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0058 a0003c0003t0003g0059	10	363	0.0275	204	c.416 others(219): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTT CCTTTCCTTCCTTCCTCCCTTCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66221417	A A	AAGGGAGG others(197): Show AAGGGAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGA AGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAAGGA AGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAAGGAAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0042 a0004c0004t0003g0042	1	354	0.0028	204	c.416 others(219): Show c.416-676_416-675insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTCCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTT CCTTCCTTTCCTTCCTTCCTCCCT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144625141	C C	CCACTGCA others(197): Show CCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCA CCCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGC ACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAG CACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGA GCACT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19012.hp2 NA18945.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	231	0.0087	204	c.-81 others(223): Show c.-81-19447_-81-19446insAGTGCTCCGTGAACGGGGCCGCGGGG ACAGGGGCTGCCGCAGTGTGCAGTGAGTGCTCCGTGAACCGGGCCGCCGG GACAGGGGCTGCCGCAGTGTGCAGTGAGTGCTCCGTGAACGGGGCCGCGG GGACAGGGGCTGCCGCAGTGTGCAGTGGGTGCTCCGTGAACGGGGCCGCC GGGACAGGGGCTGCCGCAGTGTGCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144626448	G G	GGCCCGGT others(197): Show GGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGG CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCC GGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CCGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0017	1	244	0.0041	204	c.-81 others(223): Show c.-81-20754_-81-20753insTGCGGGGACAGGGGCTGCCGCAGTGT GCAGTGGGTGCTCCGTGAACCGGGCCGCCGGGACAGGGGATGCCGCAGTG TGCAGTGGGTGCTCCGTGAACCGGGCCGCCGGGACAGGGGCTGCCGCAGT GTGCAGTGGGTGCTCCGTGAACGGGGCCGCCGGGACAGGGGCTGCCGCAG TGTGCAGTGGGTGCTCCGTGAACCGGGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(197): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTC CCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	192	0.0052	204	c.102 others(221): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCC TCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(197): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	72	0.0139	204	c.102 others(221): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130050241	G G	GGGGGCAG others(197): Show GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGA GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACAC ATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	302	0.0033	204	c.44 others(215): Show c.4489_*4490insATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCT GCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCA TGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1862		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218715	G G	GATATATA others(197): Show GATATATAAATATATATATTTGTATGATATATAAATATATATGTATGATA TATAAATATATATTTGTATGATATATAAATATATATATTTGTATGATATA TAAATATATATATTTGTATGATATATAAATATATATATTTGTATGATATA TAAATATATATATTTGTATGATATATAAATATATATATTTGTATGATATA TAAAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	265	0.0038	204	c.671 others(221): Show c.671-1707_671-1706insATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATTTATATATCATACATATATATTTATATA TCATACAAATATATATATTTATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATAD3B_chr1_1466765_1502848	1489582	T T	TCGTGTGA others(197): Show TCGTGTGAGGCTCTGCTGGGTCTCCCTTGGAGGGTGTGTGTGCCCTGGGG TGGGAGATGGAGACAAGTTTGCTCCCACGGGAAGTTGGACACCAGCAGGT CCTGTGTGTCGGGGCGGAACCTGGGACCTTGGTCCCCCGCCCGGATGCTG GCCAAGGGTGCACCCTCCAGGCTTGGGGCCCACCCGACTTTGTGTGGCCT CTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG03540.hp2 others(1): Show HG02615.hp2 HG02922.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0002 a0002c0002t0002 a0001c0008t0002 a0002c0002t0002	a0001c0008t0002g0085 a0002c0002t0002g0061 a0002c0002t0002g0062 others(1): Show a0001c0008t0002g0085 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0082	4	274	0.0146	204	c.133 others(221): Show c.1337+308_1337+309insCGTGTGAGGCTCTGCTGGGTCTCCCTTG GAGGGTGTGTGTGCCCTGGGGTGGGAGATGGAGACAAGTTTGCTCCCACG GGAAGTTGGACACCAGCAGGTCCTGTGTGTCGGGGCGGAACCTGGGACCT TGGTCCCCCGCCCGGATGCTGGCCAAGGGTGCACCCTCCAGGCTTGGGGC CCACCCGACTTTGTGTGGCCTCTGTG	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	13/15			chr1	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(197): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0203 a0003c0003t0001g0203	1	149	0.0067	204	c.108 others(221): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATP10A_chr15_25673712_25868327	25758477	A A	ATTCCGAC others(197): Show ATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0053 a0006c0053	a0006c0053t0001 a0006c0053t0001	a0006c0053t0001g0021 a0006c0053t0001g0021	1	275	0.0036	204	c.655 others(223): Show c.655-22337_655-22336insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(197): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02572.hp1 HG02818.hp2 others(2): Show HG00642.hp1 HG02572.hp1 HG02818.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0004g0019 others(2): Show a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0004g0019 a0001c0001t0004g0105 a0001c0001t0004g0113	5	243	0.0206	204	c.61 others(215): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642713	G G	GAAGGTGG others(197): Show GAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC ATTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTATAG CCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0042 a0003c0003t0042	a0003c0003t0042g0182 a0003c0003t0042g0182	1	249	0.0040	204	c.57 others(215): Show c.5774_*5775insAACGGCTATAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTAATGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3712		chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326400	G G	GGTGTCAT others(197): Show GGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC TCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACAC TCCTTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCC TCACATGGTGTTAGTGTGTCATCTCTGCACACTCTCTCCCTGCACATGGT GTTAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0242 a0002c0002t0002g0242	1	274	0.0036	204	c.177 others(223): Show c.1774-2730_1774-2729insATACCCTCCCTCCCCTCACATGGTGT TAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTC ATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGGGTGTCATCTCTATA CCCTCCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCTCTC CCTGCACATGGTGTTAAGTGTCATCTCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105733678	C C	CCATCCAC others(197): Show CCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCC ATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGT CCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCC ACCCATCCATCCATCCATCCATCCATCCATTCATCCATCCACCCATCCAT CCATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp1 HG03942.hp2 others(1): Show HG01175.hp1 HG01358.hp1 HG03942.hp2 NA18950.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0003c0003t0018	a0001c0001t0002g0085 a0001c0001t0010g0051 a0001c0001t0013g0060 others(1): Show a0001c0001t0002g0085 a0001c0001t0010g0051 a0001c0001t0013g0060 a0003c0003t0018g0199	4	92	0.0435	204	c.355 others(223): Show c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG AATGGATGGATGGGTGGATGGGTGGATG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(197): Show AGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	299	0.0033	204	c.36 others(215): Show c.3611_*3612insGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82938846	T T	TGAGATTG others(197): Show TGAGATTGCTTCTCTGGTGAGGGAGCAGGTTGGTTAATAGCAGGTGAGAT TGCTTCTCTGGTGAAAACAGAGCAGGCGAGATTGCTTCTCTGGTGAGGGA GCAGGTTGGTTAATGGAGAGCAGGTGAGATTACTTCTCTGATGAAAAGAG AGCAGGCGAGATTGCTTCTCTGGTGAGGGAGCAGGTTGGTTAATAGATAG CGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00741.hp2 others(23): Show HG00280.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01192.hp1 HG01496.hp2 HG01516.hp1 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02630.hp1 HG03017.hp2 HG03492.hp2 HG03579.hp1 HG04199.hp2 NA18612.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18999.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0014 a0006c0026	a0001c0001t0006 a0001c0001t0009 a0001c0002t0006 others(6): Show a0001c0001t0006 a0001c0001t0009 a0001c0002t0006 a0001c0003t0009 a0001c0006t0006 a0001c0006t0018 a0001c0006t0023 a0001c0014t0018 a0006c0026t0006	a0001c0001t0006g0154 a0001c0001t0006g0158 a0001c0001t0006g0160 others(23): Show a0001c0001t0006g0154 a0001c0001t0006g0158 a0001c0001t0006g0160 a0001c0001t0006g0165 a0001c0001t0006g0183 a0001c0001t0009g0234 a0001c0001t0009g0235 a0001c0001t0009g0249 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0006g0108 a0001c0002t0006g0128 a0001c0002t0006g0129 a0001c0003t0009g0203 a0001c0003t0009g0205 a0001c0003t0009g0211 a0001c0003t0009g0213 a0001c0003t0009g0214 a0001c0003t0009g0222 a0001c0006t0006g0007 a0001c0006t0006g0025 a0001c0006t0006g0039 a0001c0006t0018g0017 a0001c0006t0023g0031 a0001c0014t0018g0050 a0006c0026t0006g0175	26	128	0.2031	204	c.52 others(215): Show c.5227_*5228insGCCCGCTATCTATTAACCAACCTGCTCCCTCACC AGAGAAGCAATCTCGCCTGCTCTCTTTTCATCAGAGAAGTAATCTCACCT GCTCTCCATTAACCAACCTGCTCCCTCACCAGAGAAGCAATCTCGCCTGC TCTGTTTTCACCAGAGAAGCAATCTCACCTGCTATTAACCAACCTGCTCC CTCACCAGAGAAGCAATCTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3302		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052800	G G	GACCCCAC others(197): Show GACCCCACCGTGAGGTCCCCCAGAAGGAGGGGTGCCCAGGAGTGAGACCC TGACCCCACCAGGAGGTCCCCCAGGAGGAGGGGTGCCCAGGAGTGAGGCC CTGACCCCACCGTGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGGC CCTGACCCCACCGTGAGGTCCTCCAGGAGGAGGGGTGCCCAGGAGTGAGG CCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02080.hp1 NA18944.hp1 others(1): Show HG00597.hp2 HG02080.hp1 NA18944.hp1 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0008 a0001c0002t0006 a0001c0002t0008	a0001c0002t0006g0128 a0001c0002t0008g0097 a0001c0002t0008g0098 others(1): Show a0001c0002t0006g0128 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099	4	194	0.0206	204	c.-10 others(215): Show c.-1050_-1049insGAGGGCCTCACTCCTGGGCACCCCTCCTCCTGGA GGACCTCACGGTGGGGTCAGGGCCTCACTCCTGGGCACCCCTCCTCCTGG AGGACCTCACGGTGGGGTCAGGGCCTCACTCCTGGGCACCCCTCCTCCTG GGGGACCTCCTGGTGGGGTCAGGGTCTCACTCCTGGGCACCCCTCCTTCT GGGGGACCTCACGGTGGGGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		1031		chr17	TogoVar
B4GALNT3_chr12_454939_568509	545902	T T	TGAGAGGA others(197): Show TGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGAGAGAGGAGTGGGGA GGTGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGA GGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG01109.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0091 a0001c0001t0020 a0001c0001t0091	a0001c0001t0020g0130 a0001c0001t0091g0232 a0001c0001t0020g0130 a0001c0001t0091g0232	2	42	0.0476	204	c.639 others(219): Show c.639+436_639+437insAGGAGTGGGGAGATGAGAGGAGTGGGGAGG TGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAG GAGAGAGGAGTGGGGAGGTGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGG TGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	364641	C C	CCACCTGG others(197): Show CCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAGGTC CTCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAGGT CCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAGG TCCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAGGTGCAAAGGCAG GTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0049 a0001c0026t0002g0049	1	45	0.0222	204	c.-51 others(215): Show c.-5163_-5162insCACCTGGGTGTGGGAGGCCAGGCCTGCACGACAG GTGCAAAGGCAGGTCCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGACA GGTGCAAAGGCAGGTCCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGAC AGGTGCAAAGGCAGGTCCTCACCTGGGTGTGGGAGGCCAGGCCTGCACGA CAGGTGCAAAGGCAGGTCCT	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		4857		chr11	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(197): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	150	0.0067	204	c.784 others(219): Show c.784-325_784-324insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGA others(197): Show GAGGGGGAGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGGGGAGGGAGGG GGAGGGGGAGGGGGAGGGGGAAGGAGAGGGGGGATGGGGATGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGG GAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACT GGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	2	0.5000	204	c.51+ others(217): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCATCCCCATCCCCCCTCTC CTTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCT CCCTCCCCCTCCCCCTCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar

Search by Variant

Search

Search Results