Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(244): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGC TGGAATGCAGTGGCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGT TC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0003 a0001c0001t0039g0003	1	96	0.0104	251	c.-72 others(270): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACCCCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATA ATTTGTGGGTACATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTT TCTGTTGCAGCCAAGAAGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(244): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACCACCAATCAAT TTCTTAACTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTTAGACAGTCTCCTTCCATTGTCCAGGC TGGAATGCAGTGGCACGATCTCCACTCACTGCAACCTCCGCCTCCTGGGT TC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	96	0.0104	251	c.-72 others(270): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACCAAAAGTTAAGAAATTGATTGGTGGTCAGATTTCATA ATTTGTGGGTACATATTTATACACAATGCAGTTCTCTTGCAAGTGACGTT TCTGTTGCAGCCAAGAAGGCTGCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(244): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGC GGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGGAGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG04184.hp2 HG00738.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0016 a0001c0004t0001g0001 a0001c0002t0001g0016 a0001c0004t0001g0001	2	364	0.0055	251	c.-20 others(260): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGG CGGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(244): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGG CGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	364	0.0028	251	c.-20 others(260): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGG GCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(244): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGATGGGG CGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	364	0.0028	251	c.-20 others(260): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGATGGGGGCGGGGG GGAGGGGATGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGG GCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(244): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGG CGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGGG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01975.hp1 HG02056.hp1 others(1): Show HG00423.hp1 HG01975.hp1 HG02056.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0014 a0001c0003 a0001c0004 a0001c0014	a0001c0003t0001 a0001c0004t0001 a0001c0014t0001 a0001c0003t0001 a0001c0004t0001 a0001c0014t0001	a0001c0003t0001g0026 a0001c0003t0001g0040 a0001c0004t0001g0001 others(1): Show a0001c0003t0001g0026 a0001c0003t0001g0040 a0001c0004t0001g0001 a0001c0014t0001g0101	4	364	0.0110	251	c.-20 others(260): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGG GAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGG GCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019227	C C	CGGGGGGA others(244): Show CGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGTGGGGGGG GAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGAGGGGGA GGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGGGATGG GGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGG AGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGGGGAGGGGGG CG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	364	0.0028	251	c.-19 others(260): Show c.-197_-196insGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGG TAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGG GGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGG GGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGAT GGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGG GAGGGGAGGGGGGCG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		117		chr1	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGG others(244): Show GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGG GA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0010 a0008c0008t0010	a0008c0008t0010g0021 a0008c0008t0010g0021	1	188	0.0053	251	c.229 others(270): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTT CCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTC CCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCC TTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCC TCCCTCCCTCCCTCCCTTCCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GNG13_chr16_793041_805734	795610	C C	CCCCCGGC others(244): Show CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCTCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCT GT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	422	0.0024	251	c.31 others(262): Show c.3108_*3109insACAGCCACACGGGCAGCGCGGGGGGGGGGAGGGG AGGGGCGGGGCGGGGAGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGG GGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGA GGGGCACGGGGCCGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2430		chr16	TogoVar
GPR157_chr1_9095305_9134102	9116228	A A	AATATAAT others(244): Show AATATAATTATATATAATTATATTATATATATTATATATAATATAATTAT ATATAATTATATTATATATATTATATATAATATAATTATATTATATATAT ATTATATTATATATAATTATATATAATTATATTATATATTATATGTAATA TAAATATATATAATTATATTATATATATTATATGTAATATAATTATATAT ATTTATATTATATATTATATATAATTATATATATAATTATAATATATATT AT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0340 a0003c0003t0004g0340	1	404	0.0025	251	c.384 others(268): Show c.384-4740_384-4739insATAATATATATTATAATTATATATATAA TTATATATAATATATAATATAAATATATATAATTATATTACATATAATAT ATATAATATAATTATATATATTTATATTACATATAATATATAATATAATT ATATATAATTATATATAATATAATATATATATAATATAATTATATTATAT ATAATATATATAATATAATTATATATAATTATATTATATATAATATATAT AATATAATTATATATAATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116292	A A	ATTATATA others(244): Show ATTATATATAATATAATTATATTATATATATATTATATTATATATAATTA TATATAATTATATTATATATTATATGTAATATAAATATATATAATTATAT TATATATATTATATGTAATATAATTATATATATTTATATTATATATTATA TATAATATAATTATATATATAATTATAATATATATTATATATAATTATAT ATATAATTTATATATATTATATATAATATAATTATATATATAATATATAT AT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0036 a0003c0003t0036	a0003c0003t0036g0364 a0003c0003t0036g0364	1	404	0.0025	251	c.384 others(268): Show c.384-4804_384-4803insATATATATATTATATATATAATTATATT ATATATAATATATATAAATTATATATATAATTATATATAATATATATTAT AATTATATATATAATTATATTATATATAATATATAATATAAATATATATA ATTATATTACATATAATATATATAATATAATTATATATATTTATATTACA TATAATATATAATATAATTATATATAATTATATATAATATAATATATATA TAATATAATTATATTATATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPSM1_chr9_136322539_136364601	136355026	A A	AGTGACAC others(244): Show AGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGTGACACG TCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGG GAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTA GCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTG CCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGT GG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03453.hp2 HG02258.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0028 a0001c0001t0015 a0001c0001t0028	a0001c0001t0015g0344 a0001c0001t0028g0106 a0001c0001t0015g0344 a0001c0001t0028g0106	2	400	0.0050	251	c.145 others(268): Show c.1456-622_1456-621insTGACACGTCCTGGGGGAGGGGTAGCCGG GTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAG GGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTG ACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCC TGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAG GGGTAGCCGGGTGCCGAGGGTGG	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(244): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TTATAGTAACTATATTAATATATACTAACTATATTAATAATATAGTTAGT ATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01099.hp2 others(8): Show HG00642.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp2 HG04204.hp1 HG06807.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 others(8): Show a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0228 a0001c0001t0001g0230	11	268	0.0410	251	c.-28 others(262): Show c.-2845_-2844insGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTTATAGTAACTATATTAATATATACTAACTATATT AATAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2344		chr4	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(244): Show TCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCC TC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0147 a0001c0001t0039g0147	1	290	0.0035	251	c.427 others(268): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(244): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATGTTAT ATACATGTATATAACATATAGTTGTATGTTATATACATGTATATAACATA TAGTTATGTATGTTATATACATGTATATAACATATAGTTATGTATATTAT ATACATGTATATAACATATAGTTATGTATATTATATACATGTATATAACA TAGTTATATACATATAACTATATGTATATAATATATAGTACATGTATATA AT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01081.hp1 others(1): Show HG00639.hp2 HG00735.hp2 HG01081.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0027 a0001c0002t0012 others(1): Show a0001c0001t0001 a0001c0001t0027 a0001c0002t0012 a0001c0002t0031	a0001c0001t0001g0073 a0001c0001t0027g0001 a0001c0002t0012g0177 others(1): Show a0001c0001t0001g0073 a0001c0001t0027g0001 a0001c0002t0012g0177 a0001c0002t0031g0196	4	256	0.0156	251	c.183 others(270): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTAT ATACATGTATATAACATACATAACTATATGTTATATACATGTATATAACA TACAACTATATGTTATATACATGTATATAACATATAACTATATGTTATAT ACATGTATATAATATATAACTATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATACA others(244): Show TATATACATGGAATATATACATGGAATATATACATGGAATATATACATGG AACATATATATATGGAACATATACGGAATATATATATGGAATATATATAC GGAATATATATATATGGAATATATATACGGAATATATATATGGAATATAT ATACGGTATATATATATGGAATATATATACGGAATATATATATGGAATAT ATATATGGAATATGTATATGGAATATATATATATGGAATATATATATATG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA18522.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0179 a0001c0001t0003g0012 a0001c0001t0003g0179	2	323	0.0062	251	c.-26 others(262): Show c.-2627_-2626insATATACATGGAATATATACATGGAATATATACAT GGAATATATACATGGAACATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATATATGGAATATATATACGGTATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATATGGAATATGTATATGGAATATATATATATG GAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
IGF2R_chr6_159964082_160116504	159980227	G G	GAAAGAAA others(244): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAAGAAAAGAAAGAAAAGAAAGAAAAGAAAAGAAAA GA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0033 a0018c0032t0033	a0018c0032t0033g0087 a0018c0032t0033g0087	1	310	0.0032	251	c.149 others(270): Show c.149+10844_149+10845insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAGAAAAGAAAGAAA AGAAAAGAAAAGAAAAGAAAGAAAG	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(244): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTCT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATATATAATATATAATGTATAATAACATTATATATTATATATTATACA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(91): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02976.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0007c0009	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0002t0012 a0001c0006t0001 a0001c0011t0001 a0007c0009t0012	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0009g0003 a0001c0001t0009g0008 a0001c0001t0009g0055 a0001c0001t0015g0094 a0001c0001t0015g0095 a0001c0001t0015g0096 a0001c0002t0012g0088 a0001c0002t0012g0090 a0001c0006t0001g0064 a0001c0011t0001g0008 a0007c0009t0012g0087	94	366	0.2568	251	c.-36 others(262): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTCTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATATATAATATATAATGTATAATAACATTATAT ATTATATATTATACATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(244): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTCT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATATATAATATATAATGTATAATAACATTATATATTATATATTATACA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(92): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0176	95	348	0.2730	251	c.84 others(260): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTCTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATATATAATATATAATGTATAATAACATTATATAT TATATATTATACATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
IMPA1_chr8_81651914_81691325	81685257	A A	AGTATATA others(244): Show AGTATATATAGTATATATACTATACATAGTATATATAGTATATATACTAT ACATAGTATATATAGTATATATACTATACATAGTATATATAGTATATATA CTATACATAGTATATATAGTATATATACTATACATAGTATATATAGTATA TATACTATACATAGTATATATAGTATATATACTATACATAGTATATATAG TATATATACTATACATAGTATATATAGTATATATACTATACATAGTATAT AT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG03486.hp1 HG02559.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0093 a0001c0001t0012g0201 a0001c0001t0012g0202 a0001c0001t0012g0093 a0001c0001t0012g0201 a0001c0001t0012g0202	3	380	0.0079	251	c.-25 others(266): Show c.-25+994_-25+995insATATATACTATGTATAGTATATATACTATA TATACTATGTATAGTATATATACTATATATACTATGTATAGTATATATAC TATATATACTATGTATAGTATATATACTATATATACTATGTATAGTATAT ATACTATATATACTATGTATAGTATATATACTATATATACTATGTATAGT ATATATACTATATATACTATGTATAGTATATATACTATATATACTATGTA TAGTATATATACTATATATAC	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
IZUMO4_chr19_2091915_2104590	2104353	G G	GAGACGCC others(244): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC AACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGATGCCAACACCCA GACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAA TGCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCAAGG CACCAACTCCAAGACGCCAACACCCAGACCCAATGCCGAGGCACCAACTC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	454	0.0022	251	c.50 others(262): Show c.5008_*5009insAGACGCCAACACCCAGACCCCAACGCCAAGGCAC CAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACTCCA AGATGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCCA ACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGACGCCAACACCCAG ACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCAATG CCGAGGCACCAACTCCA	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4764		chr19	TogoVar
IZUMO4_chr19_2091915_2104590	2104353	G G	GAGACGCC others(244): Show GAGACGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCC ACACCCAGACCCCAATGCCGAGGCACCAACTCCAAGATGCCAACACCCAG ACCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAAT GCCGAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAACGCCAAGGC ACCAACTCCAAGACGCCAACACCCAGACCCCAATGCCGAGGCACCAACTC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	251	c.50 others(262): Show c.5008_*5009insAGACGCCAACACCCAGACCCCAACGCCAAGGCAC CAACTCCAAGACGCCACACCCAGACCCCAATGCCGAGGCACCAACTCCAA GATGCCAACACCCAGACCCCAACGCCAAGGCACCAACTCCAAGACGCCAA CACCCAGACCCCAATGCCGAGGCACCAACTCCAAGACGCCAACACCCAGA CCCCAACGCCAAGGCACCAACTCCAAGACGCCAACACCCAGACCCCAATG CCGAGGCACCAACTCCA	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		4764		chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(244): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGC AGGGGAGGAGGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0194 a0001c0006t0001g0194	1	270	0.0037	251	c.178 others(268): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(244): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGG GGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0085 a0002c0003t0004g0085	1	270	0.0037	251	c.178 others(268): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGG AGGGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGGGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCG GGGGAGGGGGCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(244): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0247 a0002c0002t0013g0247	1	375	0.0027	251	c.317 others(268): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(244): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0231 a0002c0002t0001g0231	1	375	0.0027	251	c.317 others(268): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(244): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	375	0.0027	251	c.317 others(268): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(244): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01952.hp2 HG01943.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0040 a0002c0002t0003 a0002c0002t0040	a0002c0002t0003g0319 a0002c0002t0040g0082 a0002c0002t0003g0319 a0002c0002t0040g0082	2	375	0.0053	251	c.317 others(268): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(244): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0036 a0001c0018t0036	a0001c0018t0036g0184 a0001c0018t0036g0184	1	375	0.0027	251	c.317 others(268): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(244): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0074 a0002c0002t0003g0074	1	375	0.0027	251	c.317 others(268): Show c.317+1409_317+1410insGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(244): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCC CACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	308	0.0033	251	c.66 others(262): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCC TCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCA CACCCCTCTCCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LSP1_chr11_1848084_1897263	1874123	A A	AGGAGGGA others(244): Show AGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGCCCGGCA GAGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGCCCGGC AGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGGCCGG CAGAGGAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGCAGGGAGGCTG GCAGAGCAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGGCC GG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG03486.hp2 HG01884.hp2 HG02922.hp1 HG03486.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0006 a0002c0005 a0003c0006	a0002c0005t0001 a0002c0005t0009 a0003c0006t0001 a0002c0005t0001 a0002c0005t0009 a0003c0006t0001	a0002c0005t0001g0086 a0002c0005t0009g0085 a0003c0006t0001g0087 a0002c0005t0001g0086 a0002c0005t0009g0085 a0003c0006t0001g0087	3	360	0.0083	251	c.54- others(266): Show c.54-5964_54-5963insGGAGGGAGGCCGGCGGAGGAGGGAGGCCGG CAGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCCG GCAGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCT GGCAGAGCAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGGAGGGAGGC CGGCAGAGCAGGGAGGCTGGCAGAGCAGGGAGGCCGGCGGAGGAGGGAGG CCGGCAGAGCAGGGAGGCCGG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10			chr11	TogoVar
LSP1_chr11_1848084_1897263	1874123	A A	AGGAGGGA others(244): Show AGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGCCCGGCA GAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGCCCGGC AGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGGCCGG CAGAGGAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGCAGGGAGGCTG GCAGAGCAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGGCC GG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp2 others(28): Show HG00408.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG01106.hp2 HG02071.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02818.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18950.hp1 NA18951.hp1 NA18980.hp2 NA18982.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19066.hp2 NA19070.hp2 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0004 others(1): Show a0001c0003 a0002c0001 a0003c0004 a0003c0006	a0001c0003t0001 a0002c0001t0001 a0003c0004t0001 others(1): Show a0001c0003t0001 a0002c0001t0001 a0003c0004t0001 a0003c0006t0001	a0001c0003t0001g0258 a0002c0001t0001g0216 a0002c0001t0001g0223 others(26): Show a0001c0003t0001g0258 a0002c0001t0001g0216 a0002c0001t0001g0223 a0002c0001t0001g0228 a0003c0004t0001g0031 a0003c0004t0001g0033 a0003c0004t0001g0060 a0003c0004t0001g0182 a0003c0004t0001g0204 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0217 a0003c0004t0001g0224 a0003c0004t0001g0225 a0003c0004t0001g0226 a0003c0004t0001g0227 a0003c0004t0001g0229 a0003c0004t0001g0233 a0003c0004t0001g0236 a0003c0004t0001g0237 a0003c0004t0001g0238 a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0241 a0003c0004t0001g0242 a0003c0004t0001g0283 a0003c0004t0001g0286 a0003c0006t0001g0102 a0003c0006t0001g0157	31	360	0.0861	251	c.54- others(266): Show c.54-5964_54-5963insGGAGGGAGGCCGGCGGAGGAGGGAGGCCGG CAGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTG GCAGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCT GGCAGAGCAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGGAGGGAGGC CGGCAGAGCAGGGAGGCTGGCAGAGCAGGGAGGCCGGCGGAGGAGGGAGG CCGGCAGAGCAGGGAGGCCGG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10			chr11	TogoVar
LSP1_chr11_1848084_1897263	1874123	A A	AGGAGGGA others(244): Show AGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCGGAGCAGGGAGCCCGGCA GAGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCGGAGCAGGGAGCCCGGC AGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGGCCGG CAGAGGAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGCAGGGAGGCTG GCAGAGCAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGGCC GG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02145.hp2 HG02451.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0036 a0003c0004t0001g0036	2	360	0.0056	251	c.54- others(266): Show c.54-5964_54-5963insGGAGGGAGGCCGGCGGAGGAGGGAGGCCGG CGGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCCG GCGGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCT GGCAGAGCAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGGAGGGAGGC CGGCAGAGCAGGGAGGCTGGCAGAGCAGGGAGGCCGGCGGAGGAGGGAGG CCGGCAGAGCAGGGAGGCCGG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10			chr11	TogoVar
LSP1_chr11_1848084_1897263	1874123	A A	AGGAGGGA others(244): Show AGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCGGAGCAGGGAGCCCGGCA GAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCGGAGCAGGGAGCCCGGC AGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGGCCGG CAGAGGAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGCAGGGAGGCCG GCAGAGCAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGGCC GG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02622.hp1 others(1): Show HG02145.hp1 HG02615.hp1 HG02622.hp1 HG02895.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0210 others(1): Show a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0004t0001g0218	4	360	0.0111	251	c.54- others(266): Show c.54-5964_54-5963insGGAGGGAGGCCGGCGGAGGAGGGAGGCCGG CGGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTG GCGGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCT GGCAGAGCAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGGAGGGAGGC CGGCAGAGCAGGGAGGCCGGCAGAGCAGGGAGGCCGGCGGAGGAGGGAGG CCGGCAGAGCAGGGAGGCCGG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10			chr11	TogoVar
LSP1_chr11_1848084_1897263	1874123	A A	AGGAGGGA others(244): Show AGGAGGGAGGCCGGCGGAGGAGGGAGGCCGGCGGAGCAGGGAGCCCGGCA GAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCGGAGCAGGGAGCCCGGC AGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGGCCGG CAGAGGAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGCAGGGAGGCTG GCAGAGCAGGGAGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGGCC GG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG03098.hp1 others(4): Show HG01070.hp2 HG01109.hp1 HG03098.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0004t0002 a0003c0006t0001 a0003c0004t0001 a0003c0004t0002 a0003c0006t0001	a0003c0004t0001g0032 a0003c0004t0001g0213 a0003c0004t0001g0220 others(3): Show a0003c0004t0001g0032 a0003c0004t0001g0213 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0002g0219 a0003c0006t0001g0152	7	360	0.0194	251	c.54- others(266): Show c.54-5964_54-5963insGGAGGGAGGCCGGCGGAGGAGGGAGGCCGG CGGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTG GCGGAGCAGGGAGCCCGGCAGAGGAGGGAGGCCGGCGGAGGAGGGAGGCT GGCAGAGCAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGGAGGGAGGC CGGCAGAGCAGGGAGGCTGGCAGAGCAGGGAGGCCGGCGGAGGAGGGAGG CCGGCAGAGCAGGGAGGCCGG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10			chr11	TogoVar
LUC7L_chr16_183990_234449	187173	G G	GGGAACAG others(244): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGA ACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	350	0.0029	251	c.20 others(262): Show c.2024_*2025insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1816		chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(244): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC AC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp1 NA18941.hp1 others(1): Show HG00642.hp1 HG01361.hp1 NA18941.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0004g0278 others(1): Show a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0001t0004g0278 a0001c0001t0018g0284	4	362	0.0111	251	c.391 others(266): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579168	C C	CCACCATC others(244): Show CCACCATCACCACCACCACCACCATCACCATCACCACCACCACCATCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCA TCACCACCACCACCATCACCACCACCATCACCATCACCACTACCACCACC ACCACCATCACCACCACCATCACCATCACCACCCTTCACCACCATCACCA CCACCACCATCACCACCACCATCACCATCACCACTACCACCACCACCACC AT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0016 a0011c0009t0016	a0011c0009t0016g0026 a0011c0009t0016g0026	1	362	0.0028	251	c.391 others(266): Show c.391+675_391+676insTCACCACCACCACCACCATCACCATCACCA CCACCACCATCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCCTTCACCACCATCACCACCACCACCATCACCACCACCATCACCATCA CCACTACCACCACCACCACCATCACCACCACCATCACCATCACCACCCTT CACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACTA CCACCACCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCATCACC others(244): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	362	0.0028	251	c.391 others(266): Show c.391+746_391+747insATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(244): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGA GAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAG GG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	163	0.0061	251	c.525 others(268): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCT CTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19478038	A A	AGGGGGAG others(244): Show AGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG AGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGG GG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	163	0.0061	251	c.525 others(268): Show c.525+8443_525+8444insCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCC CCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCT CTCCCCCCTCCCCCCTCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K5_chr6_136552046_136797477	136585469	T T	TTTTCTTT others(244): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0093 a0001c0010t0004g0093	1	162	0.0062	251	c.322 others(270): Show c.3226-1730_3226-1729insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	23/29			chr6	TogoVar
MGAT4C_chr12_85950667_86261391	86110268	C C	CTACATAT others(244): Show CTACATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATA TATATATATAGTCTATATATATATAGACTATATATATAGTCTATATATAT ATAGACTATATATATATATAGACTATATAGTCTATATATATATAGTCTAT ATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATATA TATAGTCTATATATATATAGTCTATATATATATAGTCTATATATATAGTC TA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0185 a0001c0001t0068g0185	1	186	0.0054	251	c.-56 others(270): Show c.-56-60546_-56-60545insTAGACTATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATATAGACTATATATATAGAC TATATATATATAGACTATATATATATATAGACTATATATATATAGACTAT ATAGTCTATATATATATATAGTCTATATATATATAGACTATATATATAGT CTATATATATATAGACTATATATATATATAGACTATATATATAGACTATA TATATATAGACTATATATATATGTA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCCT others(244): Show CTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	181	0.0055	251	c.107 others(270): Show c.1074-5164_1074-5163insTTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(244): Show CTTTCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	181	0.0055	251	c.107 others(270): Show c.1074-5164_1074-5163insTTTCCTTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MROH1_chr8_144143016_144266926	144203163	G G	GGGAGCGC others(244): Show GGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTGTC TGTGGAGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGCGGGGGGGGGA GCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTG GAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGGGGGGAGCGCC CGCTGTCTGTGGAGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGG GA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0012	1	140	0.0071	251	c.114 others(270): Show c.1141+2624_1141+2625insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGAGCGCCCGCTGTCT GTGGAGGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGG GGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTGTC TGTGGAGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGAGCGCCC GCTGTCTGTGGAGGGGCGGGGGAGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTUS2_chr13_28815339_29510947	29450597	T T	TAAAAATA others(244): Show TAAAAATATCTGTTCTGAGACCATCCTGGCTAACAAGGTGAAACCCCGTC TCTACTAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0007 a0004c0008t0001g0007	1	92	0.0109	251	c.318 others(272): Show c.3184+10563_3184+10564insGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATATCTGTTCT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(244): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATAATATATATTATATAAAATATATATTATATTATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	368	0.0027	251	c.51 others(262): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATATAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTATAT ATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(244): Show GTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGT AGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTG GTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGT GCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGT TC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0278 a0002c0002t0001g0278	1	384	0.0026	251	c.160 others(268): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACCACCATCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCAC CACCACCATCGCCGCCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar

Search by Variant

Search

Search Results