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
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(191): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTCTTTC TTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTCCTTTCTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	4	0.2500	198	c.252 others(219): Show c.2526+14945_2526+14946insGGAAGAAAGGAAGGAAGGAAGAAA GGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAAGGAAAGAA AGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAGGAG GGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGA AAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(191): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTCTTTC TTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTTCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0003 a0001c0004t0012g0003	1	4	0.2500	198	c.252 others(219): Show c.2526+14945_2526+14946insGGGAGGAAGAAAGGAAGGAAGAAA GGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAAGGAAAGAA AGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAGGAG GGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGA AAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANXA2R_chr5_43034371_43045319	43043896	A A	AATATATA others(191): Show AATATATATAATATATTATATAATATATAATATATATAATATATTATATA ATATATAATATATATAATATATTATATAATATATAATATATATAATATAT TATATAATATATAATATATATAATATATTATATAATATATAATATATATA ATATATTATATATTATATAATATATATAATATATTATATATTATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	187	0.0053	198	c.-38 others(209): Show c.-3851_-3850insATTATATAATATATAATATATTATATATATTATA TAATATATAATATATTATATATATTATATATTATATAATATATTATATAT ATTATATATTATATAATATATTATATATATTATATATTATATAATATATT ATATATATTATATATTATATAATATATTATATATATTATATATTATATAA TATATTATATATAT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3578		chr5	TogoVar
ANXA2R_chr5_43034371_43045319	43043896	A A	AATATATA others(191): Show AATATATATAATATATTATATAATATATAATATATATAATATATTATATA ATATATAATATATATAATATATTATATAATATATAATATATATAATATAT TATATAATATATAATATATATAATATATTATATAATATGTAATATATATA ATATATTATATAATATGTAATATATATAATATATTATATAATATGTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	187	0.0053	198	c.-38 others(209): Show c.-3851_-3850insATTACATATTATATAATATATTATATATATTACA TATTATATAATATATTATATATATTACATATTATATAATATATTATATAT ATTATATATTATATAATATATTATATATATTATATATTATATAATATATT ATATATATTATATATTATATAATATATTATATATATTATATATTATATAA TATATTATATATAT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3578		chr5	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(191): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	230	0.0043	198	c.838 others(213): Show c.838-693_838-692insCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(191): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	180	0.0056	198	c.838 others(213): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(191): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	180	0.0056	198	c.838 others(213): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(191): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19009.hp1 NA19077.hp1 NA19006.hp1 NA19009.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0001g0231 a0001c0001t0003g0277 a0001c0001t0001g0017 a0001c0001t0001g0231 a0001c0001t0003g0277	3	250	0.0120	198	c.838 others(213): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(191): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCC CGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCA CAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCACCGCTCCGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0324 a0001c0003t0002g0324	1	298	0.0034	198	c.806 others(213): Show c.806+647_806+648insTCGGAGCGGTGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCG GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCG GCTCCACGGGGTGCAGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(191): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19055.hp2 NA18956.hp1 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0299 a0001c0002t0001g0188 a0001c0002t0001g0299	2	299	0.0067	198	c.806 others(213): Show c.806+647_806+648insTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTC GGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGG GGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCG GCTCCACGGGGTGCAGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128475	C C	CGCTCCGA others(191): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	284	0.0035	198	c.806 others(213): Show c.806+614_806+615insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGG CGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128514	A A	AGCTCCGA others(191): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	308	0.0032	198	c.806 others(213): Show c.806+575_806+576insGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128593	C C	CGCTCCGA others(191): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCTGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0195 a0001c0003t0002g0195	1	299	0.0033	198	c.806 others(213): Show c.806+496_806+497insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGG CCAGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(191): Show AATATATAATATATATTATATATAATTGTATATATAATATATATTATATA TAATTGTATATAATATATATTATATATAATTGTATATAATATATATTATA TATAATTGTATATATAATATATATTATATATATAATTGTATATATAATAT ATATTATATATATAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG03139.hp1 HG01884.hp1 HG02258.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0173 a0001c0001t0001g0045 a0001c0001t0001g0173	3	36	0.0833	198	c.-12 others(209): Show c.-1255_-1254insATATATAATATATATTATATATAATTGTATATAT AATATATATTATATATAATTGTATATAATATATATTATATATAATTGTAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATATAA TTGTATATATAATATATATTATATATATAATTGTATATATAATATATATT ATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(191): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTG GGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0219 a0001c0003t0002g0219	1	8	0.1250	198	c.62 others(209): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCA GGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGG AGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693708	A A	ACCTCCAC others(191): Show ACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCTCCAC CACCTCCACCTCCACCACCACCTCCACCTCCACCTCCACCACCTCCACCA CCACCACCACCACCTCCTCCACCTCCACCACCTCCACCTTCACCACCACC ACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCACCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	224	0.0045	198	c.67 others(209): Show c.6734_*6735insAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGA GGTGGAGGAGGTGGTGGTGGTGGTGAAGGTGGAGGTGGTGGAGGTGGAGG AGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGTG GTGGAGGTGGAGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGA GGTGGTGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4938		chr20	TogoVar
ARHGDIG_chr16_275591_288010	285902	T T	TCCCAACC others(191): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCAACA CCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCGCAGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	412	0.0024	198	c.30 others(209): Show c.3088_*3089insCCCAACCCCAACCCCAACCCCAACCCCAACCCCA ACACCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCGCGGTTCTCCCAACCCCGCAGTTCTCCCAACCCCAACCCCGCGGTTCT CCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC GCGGTTCTCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2893		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1860443	T T	TGGGCCTG others(191): Show TGGGCCTGACCTTCCCCCCTCCTCCTCCTCTCCATGCCCCCGATGTGGCC TGTGGTTCCGTAGAGTCCGGGCCTAACCTTCCCCCCTCCTCCTCCTCTCC ATGCCCCCGATGTGGCCTGTGGTTCCGTAGAGTCTGGGCCTGACCTTCCC TCCTCCTCCTCTCCATGCCCCTGATGTGGCCTGTGGTTCCGTAGAGTCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0096 a0001c0002t0006g0096	1	268	0.0037	198	c.481 others(213): Show c.481+274_481+275insCCCTCCTCCTCCTCTCCATGCCCCCGATGT GGCCTGTGGTTCCGTAGAGTCCGGGCCTAACCTTCCCCCCTCCTCCTCCT CTCCATGCCCCCGATGTGGCCTGTGGTTCCGTAGAGTCTGGGCCTGACCT TCCCTCCTCCTCCTCTCCATGCCCCTGATGTGGCCTGTGGTTCCGTAGAG TCCGGGCCTGACCTTCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(191): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCC CCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	72	0.0139	198	c.102 others(215): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL15_chr5_53878942_54315573	54029336	C C	CACCACCA others(191): Show CACCACCACCACCACCACCACCACCACCACCACCACTACCACCACCACCA CCACCACCACCACCACCACCACCACCACCACCACTACCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACTAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0197 a0001c0001t0009g0197	1	192	0.0052	198	c.462 others(217): Show c.462+83865_462+83866insAGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGT	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112767303	G G	GGGTGTGG others(191): Show GGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGG GCGTTGGGGGCCCCTGTGGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGC CCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGA AGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0245 a0003c0008t0008g0245	1	243	0.0041	198	c.40- others(215): Show c.40-17831_40-17830insGTGTGGGAGTGCTGGGGGCCCCTGTGGG AAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGAAAGGTGGGGA GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAG TGCTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGC CCCTGTGGGAAGGTGGGGAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767365	C C	CCTGTGGA others(191): Show CCTGTGGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAGGA TGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGT TGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGGGTGTTGGGGGCCA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0249 a0003c0008t0005g0249	1	162	0.0062	198	c.40- others(215): Show c.40-17764_40-17763insAAAGGTGGGGAGATGTGGGGGTGTTGGG GGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGGGCCCCTGTG GGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGG GAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGG GGTGTTGGGGGCCACTGTGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112841231	C C	CGGATGCT others(191): Show CGGATGCTTCAGGTGCAGAGGGGGCTCTGTGTGTCGGGAGCACCTGCGCC CAGGCACAAACCAGCCGCCTGGCAGAGTGCCACGTGGCTTCGCGGACCAG GGATGCTTCAGGTGTAGAGGGGGCTCTGTGTGTCGGGAGCACCTGCGCCC AGGCACAAACCAGCCGCCTGGCAGAGTGCCACGTGGCTTCGCCGTCCAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0168 a0005c0018t0001g0168	1	252	0.0040	198	c.170 others(215): Show c.1706-955_1706-758dupCGCGGACCAGGGATGCTTCAGGTGTAGA GGGGGCTCTGTGTGTCGGGAGCACCTGCGCCCAGGCACAAACCAGCCGCC TGGCAGAGTGCCACGTGGCTTCGCCGTCCAGGGATGCTTCAGGTGCAGAG GGGGCTCTGTGTGTCGGGAGCACCTGCGCCCAGGCACAAACCAGCCGCCT GGCAGAGTGCCACGTGGCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421143	A A	AGTTTATA others(191): Show AGTTTATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	290	0.0034	198	c.331 others(217): Show c.3314-1177_3314-1176insGTATATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATATATAAACTATA TATATAGTATATATATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421143	A A	ATATATAG others(191): Show ATATATAGTTTATATATATATACTATATATATAGTTTATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATATATAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0023 a0001c0001t0024g0023	1	290	0.0034	198	c.331 others(217): Show c.3314-1177_3314-1176insGTATATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATAAACTATATATATA GTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP8B1_chr18_57641426_57808315	57653716	G G	GGGGGGGG others(191): Show GGGGGGGGGGGGGGGGGGGTGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGTGGGGGGGGGGGGGGCGCGGGCGGGGGGGGGGGCTGG GGGGGGGGGGGGGGGGGGGGGCGGGGGGGGCCGGGGGGTGCCGAGGGGGG CAGAGGAGCAGTGAGCACCCTGGGCGCAATCATACTCCTGCGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0091 a0001c0001t0006g0091	1	312	0.0032	198	c.301 others(215): Show c.3015+275_3015+276insTCCCCCTCGCAGGAGTATGATTGCGCCC AGGGTGCTCACTGCTCCTCTGCCCCCCTCGGCACCCCCCGGCCCCCCCCG CCCCCCCCCCCCCCCCCCCCCCCAGCCCCCCCCCCCGCCCGCGCCCCCCC CCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA CACCCCCCCCCCCCCCCCCC	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	24/27			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(191): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	76	0.0132	198	c.955 others(215): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(191): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	76	0.0132	198	c.955 others(215): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327705	T T	TCTCCGTG others(191): Show TCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTA GCGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAACGTGCCCTCCGTG GTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGTGTGCCCTC CCTGGTTAGCATGCTCTCCGTGGTTAGCGTGCTCGCCGTGGTTAGCGTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0290 a0001c0006t0007g0290	1	295	0.0034	198	c.177 others(217): Show c.1774-1433_1774-1432insCGTGGTTAGTGTGCTCTCTCCATGGT TAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCCCTCCG TGGTTAACGTGCCCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCC TCCCTGGTTAGTGTGCCCTCCCTGGTTAGCATGCTCTCCGTGGTTAGCGT GCTCGCCGTGGTTAGCGTGCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327705	T T	TCTCCGTG others(191): Show TCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCCGTGGTTAGT GTGCTCTCTCCGTGGTTAGCGTGTTCTCCGTGGTTAGCGTGCTCTCCGTG GTTAATGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGTGTGCCCTC CGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	295	0.0034	198	c.177 others(217): Show c.1774-1433_1774-1432insCGTGTTTAGCGTGCTCTCCGTGGTTA GTGTGCTCTCCGTGGTTAGTGTGCTCTCTCCGTGGTTAGCGTGTTCTCCG TGGTTAGCGTGCTCTCCGTGGTTAATGTGCTCTCCGTGGTTAACGTGCCC TCCGTGGTTAGTGTGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGT GCTCTCCGTGTTTAGCGTGCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AUTS2_chr7_69593475_70798506	70003599	T T	TTATATAT others(191): Show TTATATATGTATATATAATATATATGAATATGTTATATATGAATGTGTTA TATATGAATATATATAATATATATGAATGTGTTATATATGAATATATATA ATATATATGAATGTTATATATGAATATATAATATATATGAATGTGTTATA TATGAATATATATAATATATATGAATGTGTTATATATGAATATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG03540.hp2 others(2): Show HG02055.hp2 HG02886.hp2 HG03540.hp2 HG03704.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0009 a0001c0003t0027 a0002c0002t0024 others(1): Show a0001c0001t0009 a0001c0003t0027 a0002c0002t0024 a0002c0002t0031	a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 others(2): Show a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 a0002c0002t0024g0059 a0002c0002t0031g0007	5	67	0.0746	198	c.522 others(219): Show c.522+104109_522+104110insTATATATAATATATATGAATATGT TATATATGAATGTGTTATATATGAATATATATAATATATATGAATGTGTT ATATATGAATATATATAATATATATGAATGTTATATATGAATATATAATA TATATGAATGTGTTATATATGAATATATATAATATATATGAATGTGTTAT ATATGAATATATATAATATATATG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AXIN1_chr16_282440_357723	285902	T T	TCCCAACC others(191): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCAACA CCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCGCAGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0043 a0001c0007t0008g0043	1	348	0.0029	198	c.22 others(209): Show c.2219_*2220insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTT GGGAGAACTGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGA GAACCGCGGGGTTGGTGTTGGGGTTGGTGTTGGGGTTGGGGTTGGGGTTG GGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
AXIN2_chr17_65523563_65566648	65555019	C C	CAACCACT others(191): Show CAACCACTCAGACCAGAGTCCTGCCCTCTGAGGATAATTCCTGCTCTTCC GCCCCAACTATTTATATTAAACCTGACACCAAATCAGTAAGGACACAAAC AAGTCGTTAAAAACGAGGCTCCTTTGAGTGCCCGAGGTAAACACAGGGCT TGCAAGCCTGGCCAGTGCCCCAGGCATCCGGCTGCCAAGACCGCTCCTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0161 a0002c0007t0002g0161	1	400	0.0025	198	c.815 others(215): Show c.815+2786_815+2787insTAGGAGCGGTCTTGGCAGCCGGATGCCT GGGGCACTGGCCAGGCTTGCAAGCCCTGTGTTTACCTCGGGCACTCAAAG GAGCCTCGTTTTTAACGACTTGTTTGTGTCCTTACTGATTTGGTGTCAGG TTTAATATAAATAGTTGGGGCGGAAGAGCAGGAATTATCCTCAGAGGGCA GGACTCTGGTCTGAGTGGTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	2/10			chr17	TogoVar
AZU1_chr19_822837_837018	829178	G G	GTCAGATG others(191): Show GTCAGATGAGGGAGGCCCAGATAAGGGAATGGGGTCAGATGGAGGAGGTG CAGAGAAGGGAAGGGGGTCAGATGGAGGAGGCACAGAGAAGGGAAGGGGC TCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGTCAGATGGAGGAGGCTC AGAGAAGGGAAGGGGGTCAGATAGAGGAGGCGCAGAGAAGGGAAGGGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02300.hp2 HG02738.hp2 others(3): Show HG00741.hp1 HG02300.hp2 HG02738.hp2 HG03834.hp2 HG04115.hp2 NA20805.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0013 a0002c0005t0001g0035 a0002c0005t0001g0013 a0002c0005t0001g0035	6	169	0.0355	198	c.216 others(213): Show c.216-377_216-376insAGGGAGGCCCAGATAAGGGAATGGGGTCAG ATGGAGGAGGTGCAGAGAAGGGAAGGGGGTCAGATGGAGGAGGCACAGAG AAGGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGTCAGA TGGAGGAGGCTCAGAGAAGGGAAGGGGGTCAGATAGAGGAGGCGCAGAGA AGGGAAGGGGCTCAGATG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
B4GALNT4_chr11_364499_387117	374842	G G	GAGGGAGG others(191): Show GAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	136	0.0074	198	c.784 others(213): Show c.784-612_784-611insAGGAAGGGAGGGAGGGGGAAGGGAGGGAGG AGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(191): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATG GACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	2	0.5000	198	c.51+ others(211): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCC TCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCL11A_chr2_60452194_60558654	60467222	A A	ATGGTGGT others(191): Show ATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGATGATGGT GGTGGTAGTGGTGGTGTTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGCGGTGATGGTACTGGTG ATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0209 a0001c0001t0059g0209	1	250	0.0040	198	c.487 others(215): Show c.487+1509_487+1510insCCATCACCACCACCACCATTACCACCAC CATCACTACCACCACCACCATCACCAGTACCATCACCGCCATCACCACCA CCATCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACC ACCAACACCACCACTACCACCACCATCATCACCACCACCATTACCACCAC CATCACTACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BRD9_chr5_858741_897801	897348	T T	TTCAGTGT others(191): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTAGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTAGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 NA18988.hp2 NA19084.hp2 HG02300.hp2 NA18988.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0164 a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0164	3	290	0.0103	198	c.-46 others(209): Show c.-4692_-4691insCTGAATGAAGCCCTGGGCTTGGCCTGCCAGAGCC CATCCAAATCCACCTGTTTCCCCACACACTGACTGAATGAAGCCCTGGGC TTGGCCTGCTAGAGCCCATCCAAATCCACCTGTTTCCCCACACACTGACT GAATGAAGCCCTGGGCTTGGCCTGCTAGAGCCCATCCAAATCCACCTGTT TCCCCACACACTGA	BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding		4548		chr5	TogoVar
BRD9_chr5_858741_897801	897376	G G	GGATGGGC others(191): Show GGATGGGCTCTAGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGG GGAAACAGGTGGATTTGGATGGGCTCTAGCAGGCCAAGCCCAGGGCTTCA TTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGC CAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00621.hp1 others(37): Show HG00408.hp2 HG00544.hp2 HG00621.hp1 HG00741.hp2 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04204.hp1 NA18942.hp2 NA18948.hp2 NA18963.hp1 NA18977.hp2 NA18994.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0016 a0001c0013t0001 a0001c0001t0001 a0001c0001t0016 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0016g0165 a0001c0013t0001g0172	40	362	0.1105	198	c.-47 others(209): Show c.-4720_-4719insTAAATCCACCTGTTTCCCCACACACTGACTGAAT GAAGCCCTGGGCTTGGCCTGCCAGAGCCCATCCAAATCCACCTGTTTCCC CACACACTGACTGAATGAAGCCCTGGGCTTGGCCTGCTAGAGCCCATCCA AATCCACCTGTTTCCCCACACACTGACTGAATGAAGCCCTGGGCTTGGCC TGCTAGAGCCCATC	BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding		4576		chr5	TogoVar
BSG_chr19_567596_588493	570682	G G	GGCGGAGG others(191): Show GGCGGAGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGTGGAAAGGGCGGAG GGGTGGGTGGGGGAGGGGCGGAGGGGTGGGGGAGGGGGCGGAGGGGTGGG TGGGGGAGGGGTGGAGGGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGGAG GGGCGGAGGGGTGGGTGGGGGGGCGGAGGGGTGGGTTGGGAGGGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	128	0.0078	198	c.-19 others(209): Show c.-1953_-1952insGCGGAGGGGCGGGTGGGGGAGGGGCGGAGGGGCG GTGGAAAGGGCGGAGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGGGAGG GGGCGGAGGGGTGGGTGGGGGAGGGGTGGAGGGGTGGGTGGAAGGGGCGG GGGTGGGTGGGGGAGGGGCGGAGGGGTGGGTGGGGGGGCGGAGGGGTGGG TTGGGAGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1913		chr19	TogoVar
BTRC_chr10_101349165_101562313	101366851	A A	AATATATA others(191): Show AATATATATTTATATATATTTATGTATATTAATATATATTAATATATATT AATATATATTAATATATATTTATATATAAATATATATTTATATATATTAA TATATATTTATATATATATTTATATATAAATATATATTTATATATATTAA TATATATTAATATATATTTTTATATATTTATATATTTATATATATTAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0056 a0001c0001t0006g0056	1	260	0.0038	198	c.48+ others(215): Show c.48+12639_48+12640insATTTATGTATATTAATATATATTAATAT ATATTAATATATATTAATATATATTTATATATAAATATATATTTATATAT ATTAATATATATTTATATATATATTTATATATAAATATATATTTATATAT ATTAATATATATTAATATATATTTTTATATATTTATATATTTATATATAT TAATATATATATTTATATAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101366918	T T	TTATATAT others(191): Show TTATATATATATTTATATATAAATATATATTTATATATATTAATATATAT TAATATATATTTTTATATATTTATATATTTATATATATTAATATATATAT TTATATATTTATATATATTAATATATATATTTATATATTTATATATATTT ATATATATTTATATATATATTTATATATTTATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	212	0.0047	198	c.48+ others(215): Show c.48+12699_48+12700insATTTATATATAAATATATATTTATATAT ATTAATATATATTAATATATATTTTTATATATTTATATATTTATATATAT TAATATATATATTTATATATTTATATATATTAATATATATATTTATATAT TTATATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATTTATATATATAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
C1QTNF12_chr1_1237453_1251722	1248881	A A	AACGGGCA others(191): Show AACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAG GCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0025 a0005c0005t0001g0025	1	286	0.0035	198	c.-21 others(209): Show c.-2192_-2191insGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGC CTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCG GAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGT CCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTC CCAGGGCTGCCCGT	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2160		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1248971	G G	GCGAGGGA others(191): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	270	0.0037	198	c.-22 others(209): Show c.-2282_-2281insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2250		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(191): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02015.hp2 HG02027.hp2 others(19): Show HG00597.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02897.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03942.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA19011.hp2 NA19063.hp2 NA19067.hp2 NA19077.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0013t0001g0080	22	100	0.2200	198	c.-23 others(209): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(191): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	79	0.0127	198	c.-23 others(209): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249169	C C	CCGAGGGA others(191): Show CCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	325	0.0031	198	c.-24 others(209): Show c.-2480_-2479insCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2448		chr1	TogoVar
C4orf50_chr4_5954375_6023431	6004473	A A	ATGGTGAT others(191): Show ATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGA TGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGG TGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03516.hp2 HG00639.hp1 HG03516.hp2	a0002 a0086 a0002 a0086	a0002c0002 a0086c0073 a0002c0002 a0086c0073	a0002c0002t0001 a0086c0073t0001 a0002c0002t0001 a0086c0073t0001	a0002c0002t0001g0313 a0086c0073t0001g0153 a0002c0002t0001g0313 a0086c0073t0001g0153	2	61	0.0328	198	c.963 others(215): Show c.963+3522_963+3523insACCATCACCATCATCACCATCATCACCA TCATCAACATCATCACCATCACCATCATAACTATCACCATCATCACCATC ATCACCATCACATCATCACCATCACCATCATCACCATCAATATCATCACC ATCAATATCATCACCATCACCATCATCACCATCACCATCATCACCATCAT CACTATCATCACCATCACCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185595	T T	TCGGCATG others(191): Show TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03688.hp2 HG02040.hp1 HG03688.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0073 a0001c0001 a0009c0073	a0001c0001t0001 a0009c0073t0012 a0001c0001t0001 a0009c0073t0012	a0001c0001t0001g0299 a0009c0073t0012g0106 a0001c0001t0001g0299 a0009c0073t0012g0106	2	333	0.0060	198	c.300 others(215): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185709	T T	TGCATAGG others(191): Show TGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC AGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCA GCGTGCATAGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0002 a0002c0012t0001 a0002c0012t0002	a0002c0012t0001g0318 a0002c0012t0002g0049 a0002c0012t0001g0318 a0002c0012t0002g0049	2	327	0.0061	198	c.300 others(215): Show c.300-9261_300-9260insATAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results