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
LUC7L_chr16_183990_234449	187190	G G	GGGAACAG others(174): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGAGGGAACA GCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	350	0.0029	181	c.20 others(192): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(174): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01975.hp1 HG01928.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0230 a0001c0001t0003g0053 a0001c0001t0001g0230 a0001c0001t0003g0053	2	436	0.0046	181	c.40 others(192): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGTAAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(174): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	181	c.40 others(192): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGTAAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAEA_chr4_1284891_1345137	1317116	G G	GGTCCCAC others(174): Show GGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCA GGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0290 a0001c0003t0001g0290	1	388	0.0026	181	c.456 others(198): Show c.456+1574_456+1575insCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCAGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317117	G G	GCCCCACA others(174): Show GCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCA GACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGC CCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG03130.hp2 HG02145.hp1 HG02572.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128	3	388	0.0077	181	c.456 others(198): Show c.456+1517_456+1518insCCCCACACTCTAGACTCACCCCCAGGCC CACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCAC CTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8			chr4	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(174): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCGCAGGCCCACCCCAGCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0364 a0001c0001t0002g0364	1	388	0.0026	181	c.456 others(198): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(174): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCAGTCCCAC ACTCCAGACTCACCCGCAGGCCCACCCCAGCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	388	0.0026	181	c.456 others(198): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCAGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(174): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCAGCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	388	0.0026	181	c.456 others(198): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579264	A A	ACCACCAT others(174): Show ACCACCATCACCACCACCACCATCACCACCACCACCCTTCACCACCATCA CCACCACCACCATCACCACCACCACCATCACCAGCACCACCACCATCACC ATCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCAT CACCATCACCACCACCATCACCACCACCACCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0002 a0010c0009t0002	a0010c0009t0002g0048 a0010c0009t0002g0048	1	362	0.0028	181	c.391 others(196): Show c.391+784_391+785insCCATCACCACCACCACCCTTCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCAGCACCACCACCATCAC CATCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCCCCACCATCACCACCACC A	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(174): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCCTC ACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03492.hp1 NA18965.hp2 others(1): Show HG00735.hp1 HG03492.hp1 NA18965.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0165 a0001c0002t0001g0162 a0001c0002t0001g0191 others(1): Show a0001c0001t0001g0165 a0001c0002t0001g0162 a0001c0002t0001g0191 a0001c0002t0001g0192	4	330	0.0121	181	c.92+ others(196): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGG GTGAGGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGG GGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGG T	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(174): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCA CCCCATCTCTCCCCCACAGGGACCCCCCTCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG01934.hp1 others(5): Show HG00733.hp2 HG01175.hp1 HG01934.hp1 HG01993.hp2 HG02155.hp2 HG02273.hp2 HG02647.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0009 a0001c0002 a0001c0007 a0001c0009	a0001c0002t0001 a0001c0007t0001 a0001c0009t0001 a0001c0002t0001 a0001c0007t0001 a0001c0009t0001	a0001c0002t0001g0161 a0001c0002t0001g0186 a0001c0002t0001g0187 others(5): Show a0001c0002t0001g0161 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0255 a0001c0007t0001g0155 a0001c0009t0001g0185	8	330	0.0242	181	c.92+ others(196): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGGTCCCTGTGGGGGAGAGATGG GGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGG GGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGG T	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(174): Show AACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCTCA CCCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	330	0.0030	181	c.92+ others(196): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGG GGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGG GGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGG T	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122187	A A	AACCCTCC others(174): Show AACCCTCCCACCCCATCTTTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCCTC ACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAG GGACCCTCCCACCCCATCTCTCCCCCATAGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	330	0.0030	181	c.92+ others(196): Show c.92+1596_92+1597insCCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGG GTGAGGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGG GGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAAAGATGGGGTGGGAGGG T	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MELTF_chr3_196996740_197034817	197032876	G G	GGGTGTGA others(174): Show GGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACGCTCTTGC TGACTGGTTGGGGTGTGAGCACCTGCAGTCGTGTGATGTCAGAAGATTTT ACACTCTTGCTGACTGGTTGTGGTGTGAGCACCTGCAGTAGTGTGATGTC AGAGGATGTTACTCTCTTGCTGACTGGTTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 NA19077.hp1 HG01255.hp2 NA19077.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0029 a0001c0002 a0011c0029	a0001c0002t0001 a0011c0029t0021 a0001c0002t0001 a0011c0029t0021	a0001c0002t0001g0155 a0011c0029t0021g0067 a0001c0002t0001g0155 a0011c0029t0021g0067	2	420	0.0048	181	c.-31 others(192): Show c.-3175_-3174insAGTAACCAGTCAGCAAGAGAGTAACATCCTCTGA CATCACACTACTGCAGGTGCTCACACCACAACCAGTCAGCAAGAGTGTAA AATCTTCTGACATCACACGACTGCAGGTGCTCACACCCCAACCAGTCAGC AAGAGCGTAACATCCTCTGACATCACACTACTGCAGGTGCTCACACC	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3060		chr3	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCCG others(174): Show ACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCG CCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAG GGTGGGAGCCACACACACACACACCCCCCCACACACACACCCCCCGCCCC ACACACACACCCCCCGCCCCACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0206 a0002c0005t0002g0206	1	399	0.0025	181	c.557 others(198): Show c.557-2656_557-2655insCGCCCCACACACACACACCCCCGCCCCA CACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACACCCCCCCACAC ACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCC CCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(174): Show CTTTCCTTTCCTTTCCTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp2 NA18975.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0001 a0001c0001t0013 a0001c0002t0001	a0001c0001t0013g0114 a0001c0002t0001g0146 a0001c0001t0013g0114 a0001c0002t0001g0146	2	181	0.0111	181	c.107 others(200): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(174): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp2 HG03486.hp1 HG01891.hp1 HG02809.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0124 a0001c0001t0003g0007 a0001c0002t0001g0172 a0001c0001t0001g0124 a0001c0001t0003g0007 a0001c0002t0001g0172	3	181	0.0166	181	c.107 others(200): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MTHFD2_chr2_74193615_74222565	74203906	G G	GTTTAGTT others(174): Show GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	414	0.0024	181	c.102 others(198): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(174): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	132	0.0076	181	c.738 others(198): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATAGAGAGAGAG AGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(174): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	132	0.0076	181	c.738 others(198): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATATATATAGAG AGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(174): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	132	0.0076	181	c.738 others(198): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATATATATATAT AGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(174): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCT ATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	132	0.0076	181	c.738 others(198): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATATACTCTCTCTCTCTCCATA TATATATATATATATACTCTATATATATATATATATATATAGAGAGAGAG AGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCOR2_chr12_124319415_124572612	124463957	G G	GAGCACTG others(174): Show GAGCACTGTTTTAGGTGCTGGAGATGCCACTGGAAATAAAAGTGGGCAGG AATAAAATCCCTGCCCTTACGGAGTTTCCATTCATAATAAACAGAATAAA TAAGTAAAACAGAAATCATGTCCCATGGGGACAAGGGCTAAGGAGAATCA GAAGCCACAAAGGAGGAAAACGGGTGTCATCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0115 a0002c0115	a0002c0115t0007 a0002c0115t0007	a0002c0115t0007g0167 a0002c0115t0007g0167	1	234	0.0043	181	c.705 others(198): Show c.705+2035_705+2215dupGGATGACACCCGTTTTCCTCCTTTGTGG CTTCTGATTCTCCTTAGCCCTTGTCCCCATGGGACATGATTTCTGTTTTA CTTATTTATTCTGTTTATTATGAATGGAAACTCCGTAAGGGCAGGGATTT TATTCCTGCCCACTTTTATTTCCAGTGGCATCTCCAGCACCTAAAACAGT GCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	7/48			chr12	TogoVar
NDUFV3_chr21_42888309_42918299	42894362	A A	ATATATAT others(174): Show ATATATATTATATATAATATATATTATATAAAATATATATTATATATATT ATATATAATATATATTGTATATAATATATATTATATATAATATATATTAT ATATAATATATATTATATATAATATATATTATATATAATATATATTATAT ACAATATATATTATATATAATATTTATTATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19009.hp1 NA19066.hp2 NA18964.hp1 NA19009.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0120 a0001c0001t0010g0027 a0001c0001t0008g0120 a0001c0001t0010g0027	3	348	0.0086	181	c.48+ others(194): Show c.48+988_48+989insTATATATAATATATATTATATAAAATATATAT TATATATATTATATATAATATATATTGTATATAATATATATTATATATAA TATATATTATATATAATATATATTATATATAATATATATTATATATAATA TATATTATATACAATATATATTATATATAATATTTATTATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU1_chr6_31852659_31867821	31853826	C C	CGCAGAGG others(174): Show CGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	419	0.0024	181	c.58 others(192): Show c.5892_*5893insCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3832		chr6	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(174): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGACAGACAAAGAAAGACAGAAAGAAAGACAGAAAGAAAG ACAGAAAGAAAGACAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	440	0.0023	181	c.319 others(196): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTGTCTGTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT T	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993515	C C	CTCCCCCC others(174): Show CTCCCCCCCTCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCT CCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0010 a0014c0019t0010	a0014c0019t0010g0175 a0014c0019t0010g0175	1	350	0.0029	181	c.56 others(192): Show c.5602_*5603insTCCCCCCCTCCCCTCTCCCCCCCTCCCCCCTCTC CCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4887		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(174): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	294	0.0034	181	c.902 others(196): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACAC C	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(174): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	294	0.0034	181	c.902 others(196): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC C	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NR0B1_chrX_30299206_30314390	30310761	C C	CTTCCTTC others(174): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	322	0.0031	181	c.-13 others(192): Show c.-1399_-1398insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1372		chrX	TogoVar
NRAP_chr10_113583714_113669041	113647577	T T	TGGTGGTA others(174): Show TGGTGGTACTGTCTCCCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCT CCCCCGGTGGTACTGCCTCCCCTGGTGGTACTTCCTCCCCTAGTGGTACT GTCTCCCCCGGTGGTACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGG TACTGTCTCCCCCCGGTGGTACTGTCTCCCCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0126 a0005c0005t0001g0126	1	398	0.0025	181	c.889 others(196): Show c.889-551_889-550insGGGGGAGACAGTACCACCGGGGGGAGACAG TACCACTAGGGGAGGAAGTACCACCGGGGGAGACAGTACCACCGGGGGAG ACAGTACCACTAGGGGAGGAAGTACCACCAGGGGAGGCAGTACCACCGGG GGAGGCAGTACCACTGGGGGAGGCAGTACCACTGGGGGAGACAGTACCAC C	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAGT others(174): Show GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTG AGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGG TGGCGGTAATGAGAGGTCATACCGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	208	0.0048	181	c.346 others(200): Show c.3466+2928_3466+2929insACCCCACCCGGTATGACCTCTCATTA CCGCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCC CACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCAC TACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRXN2_chr11_64601174_64728197	64706148	A A	ATATATAT others(174): Show ATATATATAATATATATTATATATATAAAGTATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATA TATATTATATATATATAAAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	308	0.0033	181	c.730 others(198): Show c.730+6821_730+6822insATATATTATATATTTTATATATATATAA TATATATTATATATATACTTTATATATAATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATACTTTATATATATAATATATATTATAT ATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NTSR1_chr20_62703836_62767771	62755439	A A	ATCCTCCC others(174): Show ATCCTCCCTCCCTCCATCCATCCTCCCTCCCTCCCTCCATCCATCCTCCC TCCCTCTCTCCATCCCTCATTCCATCCCTCCCCGATCCATCCCTCATTCC ATCCCTCCCTCTCTCCCTCCCTCCATTCATCCATCCATTGTCCCTCCCTC CCTCCATCCATCCTCCCTCCTCTCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02735.hp2 HG03492.hp1 others(4): Show HG00621.hp2 HG02735.hp2 HG03492.hp1 HG03927.hp1 HG06807.hp1 NA18954.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0021 a0001c0003t0012 others(1): Show a0001c0001t0001 a0001c0001t0021 a0001c0003t0012 a0001c0003t0031	a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0021g0194 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0021g0194 a0001c0003t0012g0126 a0001c0003t0012g0238 a0001c0003t0031g0060	7	316	0.0222	181	c.916 others(196): Show c.916+556_916+557insTCCCTCCCTCCATCCATCCTCCCTCCCTCC CTCCATCCATCCTCCCTCCCTCTCTCCATCCCTCATTCCATCCCTCCCCG ATCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATTCATCCAT CCATTGTCCCTCCCTCCCTCCATCCATCCTCCCTCCTCTCTCCCTCCCTC C	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62755439	A A	ATCCTCCC others(174): Show ATCCTCCCTCCCTCCATCCATCCTCCCTCCCTCCCTCCATCCATCCTCCC TCCCTCTCTCCATCCCTCATTCCATCCCTCCCCGATCCATCCCTCATTCC ATCCCTCCCTCTCTCCCTCCTTCCATTCATCCATCCATTGTCCCTCCCTC CCTCCATCCATCCTCCCTCCTCTCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0122 a0001c0003t0012g0122	1	316	0.0032	181	c.916 others(196): Show c.916+556_916+557insTCCCTCCCTCCATCCATCCTCCCTCCCTCC CTCCATCCATCCTCCCTCCCTCTCTCCATCCCTCATTCCATCCCTCCCCG ATCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCTTCCATTCATCCAT CCATTGTCCCTCCCTCCCTCCATCCATCCTCCCTCCTCTCTCCCTCCCTC C	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62755461	C C	CATCCTCC others(174): Show CATCCTCCCTCCCTCCCTCCATCCTCCCTCCCTCTCTCCATCCCTCATTC CATCCCTCCCCGATCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCT CCATTCATCCATCCATTGTCCCTCCCTCCCTCCATCCATCCTCCCTCCTC TCTCCCTCCCTCCATCCTCCCTCCCTCCATCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0229 a0001c0001t0047g0229	1	316	0.0032	181	c.916 others(196): Show c.916+575_916+576insATCCTCCCTCCCTCCCTCCATCCTCCCTCC CTCTCTCCATCCCTCATTCCATCCCTCCCCGATCCATCCCTCATTCCATC CCTCCCTCTCTCCCTCCCTCCATTCATCCATCCATTGTCCCTCCCTCCCT CCATCCATCCTCCCTCCTCTCTCCCTCCCTCCATCCTCCCTCCCTCCATC G	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3			chr20	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AGAAAGAA others(174): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	181	c.-18 others(190): Show c.-181_-180insCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		146		chr13	TogoVar
OMP_chr11_77097840_77108331	77098068	C C	CTCCCGGA others(174): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGGCTGACCCCCCCCCACCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	440	0.0023	181	c.-47 others(192): Show c.-4772_-4771insTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCACCTCCT	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4771		chr11	TogoVar
OMP_chr11_77097840_77108331	77098076	C C	CGGGGCGG others(174): Show CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCTGGA CGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCTTCCCGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	440	0.0023	181	c.-47 others(192): Show c.-4764_-4763insGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCC ACCTCCCTCCCTGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACG	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4763		chr11	TogoVar
OPRL1_chr20_64075082_64105633	64088732	A A	AGAGTGGC others(174): Show AGAGTGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGC AGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCA GGATCTGTGCAGGGAGGGCAGGATCTGTGCAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02895.hp1 HG01167.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0009 a0001c0001t0009g0010	2	66	0.0303	181	c.-18 others(200): Show c.-184-3234_-184-3233insGAGTGGCCAGGATCTGTGCAGGGAAG GCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGAAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGG CCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTG TGCAG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4			chr20	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(174): Show TCCCCTCTCCCTCTCCCTCTCTCCTCTCCCTCTCCCCTCCCCTTCCCTCT CCCCTCTCCCCTCCCCTTCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCC CTCTCCCCTCCCCTTCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTC TCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	114	0.0088	181	c.-24 others(198): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAAGGGGAGGGG AGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAAGGGGAGGGGAGA GGGGAGAGGGAAGGGGAGGGGAGAGGGAGAGGAGAGAGGGAGAGGGAGAG GGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(174): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGA GGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	302	0.0033	181	c.155 others(198): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTT CCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(174): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTAATACATATATGTATTACATATATAACATGTAATACATATATAA CATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02109.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	400	0.0050	181	c.70 others(192): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTAATACATATATGTATTACATATATAACAT GTAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCNT_chr21_46319156_46450769	46413242	G G	GCGGGGAA others(174): Show GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACAAGGCCCCCCCCGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGA GGCTGGACACGCGGCAGCAAGGTGTGGGGAGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0098 a0004c0004t0001g0098	1	332	0.0030	181	c.615 others(198): Show c.6150+250_6150+251insCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCC CCCCCCGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGG AGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46			chr21	TogoVar
PDE11A_chr2_177618244_178077777	177946991	C C	CGCCCCGT others(174): Show CGCCCCGTCCGGGAAGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0106 a0002c0004t0028g0106	1	170	0.0059	181	c.107 others(202): Show c.1072-41805_1072-41804insAGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCTTCCCGG ACGGGGC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAGAAAG others(174): Show CAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG AAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0219 a0002c0002t0001g0219	1	342	0.0029	181	c.20- others(196): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT T	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGCT others(174): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0197 a0001c0001t0095g0197	1	358	0.0028	181	c.143 others(196): Show c.143-243_143-242insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGG G	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976943	C C	CCCCGGGA others(174): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCCGCC AACCCCGAGAACCGCCTCCCACGACCCCCAAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0256 a0002c0002t0002g0256	1	408	0.0025	181	c.215 others(198): Show c.2150-320_2150-319insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAG GCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCG GTGGGGGCAGGCGGTTCCCGGGGTTGCGCGGGGAGCGGGAGGCGGTTCCC GGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIK3C2A_chr11_17081575_17212986	17193863	A A	AGGAGGGG others(174): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA21309.hp1 HG03139.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0003 a0001c0001t0003 a0002c0004t0003	a0001c0001t0003g0192 a0002c0004t0003g0191 a0001c0001t0003g0192 a0002c0004t0003g0191	2	342	0.0059	181	c.-66 others(200): Show c.-66+13984_-66+13985insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2A_chr11_17081575_17212986	17193866	A A	AGGGGAGG others(174): Show AGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGATGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	342	0.0029	181	c.-66 others(200): Show c.-66+13981_-66+13982insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCATCCCCTCCCCTCCCTCCCCTCCCCTCCCC TCCCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar

Search by Variant

Search

Search Results