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
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(200): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	145	0.0069	207	c.3+2 others(222): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505257	G G	GCCCTCTC others(200): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0102 a0001c0001t0041g0102	1	392	0.0026	207	c.-76 others(216): Show c.-768_-767insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		279		chr14	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATAT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01884.hp2 HG02523.hp1 others(3): Show HG00544.hp1 HG01884.hp2 HG02523.hp1 NA19003.hp1 NA19060.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	365	0.0164	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATTATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATGT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG03704.hp1 NA18981.hp1 others(1): Show HG01257.hp2 HG03704.hp1 NA18981.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	363	0.0110	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATTATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATGT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA19083.hp1 NA18982.hp1 NA19083.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0001 a0009c0015t0001 a0001c0001t0001 a0009c0015t0001	a0001c0001t0001g0000 a0009c0015t0001g0000 a0001c0001t0001g0000 a0009c0015t0001g0000	2	361	0.0055	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ACATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATTATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATATTAT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA19070.hp1 NA18975.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	361	0.0055	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATAATATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATTATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(200): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATTAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATGT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	360	0.0028	207	c.-31 others(218): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ACATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATATTATATTATATATTATATATAATATATTATATTATATATTATAT ATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	399	0.0025	207	c.22 others(218): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA19054.hp2 HG00408.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0270 a0001c0001t0001g0253 a0001c0001t0001g0270	2	400	0.0050	207	c.22 others(218): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	399	0.0025	207	c.22 others(218): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881982	A A	ATATAGAT others(200): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA19086.hp1 NA18989.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0284 a0001c0001t0001g0260 a0001c0001t0001g0284	2	411	0.0049	207	c.22 others(218): Show c.2256_*2257insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2062		chr13	TogoVar
RPA2_chr1_27886524_27919575	27916990	T T	TCCTTCCT others(200): Show TCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCT CCCTCCCTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT CCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCTTCCTTCCTCCCTCCCTT CCTTCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTT CCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	233	0.0043	207	c.-25 others(218): Show c.-2548_-2547insGAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGGAG GGAGGAAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGAAG GAAGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAGGAAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2416		chr1	TogoVar
RPH3AL_chr17_207389_357807	303554	G G	GAGGCTGT others(200): Show GAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGG AAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGA GCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTG AGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGG AGGGAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0019 a0001c0003t0018g0019	1	130	0.0077	207	c.351 others(226): Show c.351+15865_351+15866insTCCTCCCTCCCCATCTCTTTCCTGAG ACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC TCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACC TCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTG CTCAATAATTATTAAAACCTCAGTACAGCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	303610	A A	ATGGGGAG others(200): Show ATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTG ACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTT TAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAG GGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAG GAAAGAGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	125	0.0080	207	c.351 others(226): Show c.351+15809_351+15810insCCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	303761	G G	GAGGCTGT others(200): Show GAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGG AAAGAGATGGGGAGGGAGGAAGGCTGTACTGAGGTTTTAATAATTATTGA GCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTG AGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGG AGGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	130	0.0077	207	c.351 others(226): Show c.351+15658_351+15659insTCCTCCCTCCCCATCTCTTTCCTGAG ACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC TCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACC TCAGTACAGCCTTCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTG CTCAATAATTATTAAAACCTCAGTACAGCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304067	A A	AGCAGTGA others(200): Show AGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	106	0.0094	207	c.351 others(226): Show c.351+15352_351+15353insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCACCTCTTTCCTGAGACACGGTCACTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963518	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0091 a0001c0002t0039g0091	1	92	0.0109	207	c.393 others(224): Show c.3939+483_3939+484insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963518	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0037 a0001c0024t0037	a0001c0024t0037g0095 a0001c0024t0037g0095	1	92	0.0109	207	c.393 others(224): Show c.3939+483_3939+484insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963610	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0140 a0001c0015t0007g0140	1	126	0.0079	207	c.393 others(224): Show c.3939+575_3939+576insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963633	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01516.hp1 HG00735.hp2 HG01516.hp1	a0001 a0001	a0001c0030 a0001c0093 a0001c0030 a0001c0093	a0001c0030t0003 a0001c0093t0070 a0001c0030t0003 a0001c0093t0070	a0001c0030t0003g0117 a0001c0093t0070g0157 a0001c0030t0003g0117 a0001c0093t0070g0157	2	81	0.0247	207	c.393 others(224): Show c.3939+580_3939+581insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0069 a0001c0007t0069	a0001c0007t0069g0128 a0001c0007t0069g0128	1	71	0.0141	207	c.394 others(224): Show c.3940-602_3940-601insGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	CTGCGGCC others(200): Show CTGCGGCCCTCACCCCGTCCGCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCGCTCTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0151 a0001c0005t0026g0151	1	71	0.0141	207	c.394 others(224): Show c.3940-602_3940-601insGCCCTCACCCCGTCCGCTGTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCGCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TCTGCGGCCCTCACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	GTGCGGCC others(200): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0032 a0001c0014t0002g0033	2	72	0.0278	207	c.393 others(224): Show c.3939+598_3939+599insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(200): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	130	0.0077	207	c.394 others(224): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(200): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0008 a0001c0019t0008	a0001c0019t0008g0037 a0001c0019t0008g0037	1	130	0.0077	207	c.394 others(224): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(200): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG00323.hp2 HG00741.hp2	a0001 a0001	a0001c0014 a0001c0017 a0001c0014 a0001c0017	a0001c0014t0002 a0001c0017t0008 a0001c0014t0002 a0001c0017t0008	a0001c0014t0002g0055 a0001c0017t0008g0066 a0001c0014t0002g0055 a0001c0017t0008g0066	2	131	0.0153	207	c.394 others(224): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(200): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCGG CCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAGC GCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCGGGGGGGG CGCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0011 a0001c0008t0011	a0001c0008t0011g0259 a0001c0008t0011g0259	1	359	0.0028	207	c.-22 others(216): Show c.-223_-222insGGCCCGCGCCCCCCCCGCCCCCGCCCGGGCCCGCGC CCGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCG GCCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCG CGCGTCAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGC GCTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
RTN4R_chr22_20236415_20273318	20268314	G G	GGACTGGC others(200): Show GGACTGGCGGGGCGCTCGCAGCGCGGGCCGCCGGGAGGATGAATGTTTTA TGGGATCAGGTGGTTTTGACGCGCGAGGAATCCGCCCGGTTCCCCCGCCG GCCGGGGCGGGGCGGGGGCGGGCCGGGGCGGGGCCTCGCGGCGGGCGGAG CGCTCACCTGGGCGCGGGCGCGGGCGCGGGCCCGGGCGGGGGCTGGGGGG CGCGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0255 a0001c0001t0009g0255	1	359	0.0028	207	c.-22 others(216): Show c.-223_-222insGGCCCGCGCCCCCCAGCCCCCGCCCGGGCCCGCGCC CGCGCCCGCGCCCAGGTGAGCGCTCCGCCCGCCGCGAGGCCCCGCCCCGG CCCGCCCCCGCCCCGCCCCGGCCGGCGGGGGAACCGGGCGGATTCCTCGC GCGTCAAAACCACCTGATCCCATAAAACATTCATCCTCCCGGCGGCCCGC GCTGCGAGCGCCCCGCCAGTC	RTN4R	ENSG00000040608.14	transcript	ENST00000043402.8	protein_coding	1/2	223		chr22	TogoVar
SARDH_chr9_133658560_133743352	133668929	T T	TCCCTTAC others(200): Show TCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTC CCTCACCCTCCCTCTCCCCCTTACCCTCCCTCCTCCCCTCATCCTCCCTC ACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTAC CCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACC TCCCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0002 a0003c0058t0002	a0003c0058t0002g0160 a0003c0058t0002g0160	1	247	0.0040	207	c.249 others(226): Show c.2495+1654_2495+1655insGAGAGGGAGGTGAGGGAGAGGGAGGG TAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTAAGGGAGAGGGAAGGT GAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAG GAGGGAGGGTAAGGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGA GAGGGAAGGTGAGGGAGAGGGAGGGTAAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27918942	G G	GGAAGGAG others(200): Show GGAAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAGGAGGAGGAGAAGGAG GAGGAGGAGAAGGAGGAGGAGGAAGAGGAGGAGGAGGGGAAGGAAGAGGA GGGGAAGGAGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGGAGGAGGGGA AGGAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAGGAGGAGGGGAAGGAG GAGGAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0003 a0007c0033t0003	a0007c0033t0003g0304 a0007c0033t0003g0304	1	176	0.0057	207	c.916 others(224): Show c.916+2628_916+2629insTCCTCCTCCTCCTTCCCCTCCTCCTCCT TCCCCTCCTCCTCCTTCCCCTCCTCCTCCTTCCCCTCCTCCTCCTTCCCC TCCTCCTCCTTCTCCTCCTCCTCCTTCCCCTCCTCTTCCTTCCCCTCCTC CTCCTCTTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCT TCCCCTCCTCCTCCTTCCCCTCCTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(200): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAGTGCAG TGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACA GTGCAGTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	16	0.0625	207	c.21+ others(222): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTTATACTGCACTGTTT ACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCA CTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTAC ACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288822	T T	TCTGCTCC others(200): Show TCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTC CCGTGTCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	272	0.0037	207	c.166 others(224): Show c.1662+797_1662+798insCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCC TGCCCCGTCCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83389951	T T	TATTACAT others(200): Show TATTACATGTATACATATATACACGTATATATTACATGTATACATATATA CACGTATATATTACATGTATACATATATACACGTATATATTACATGTATA CATATATACACGTATATATTACATGTATACATATATACACGTATATATTA CATGTATACATATATACACGTATATGTGTATAGTGTATACGTATACACAT ATATACGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0191 a0001c0003t0009g0191	1	153	0.0065	207	c.166 others(226): Show c.1667+2603_1667+2604insGCGTATATATGTGTATACGTATACAC TATACACATATACGTGTATATATGTATACATGTAATATATACGTGTATAT ATGTATACATGTAATATATACGTGTATATATGTATACATGTAATATATAC GTGTATATATGTATACATGTAATATATACGTGTATATATGTATACATGTA ATATATACGTGTATATATGTATACATGTAAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(200): Show TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0329 a0002c0002t0001g0329	1	322	0.0031	207	c.101 others(226): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432012	T T	TAGGGTGG others(200): Show TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGCATAGGG TGCATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACA GGGTGGAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	278	0.0036	207	c.101 others(224): Show c.1014-947_1014-946insTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGCATAGGGTGCATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTG GTTAGGGTGGACAGGGTGGACAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432047	A A	ATAGGGTG others(200): Show ATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAT AGGATGGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0306 a0002c0002t0006g0306	1	369	0.0027	207	c.101 others(224): Show c.1014-920_1014-919insTAGGGTGGTTAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGATAGGATGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432138	C C	CAGGGTGG others(200): Show CAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGA GGGTGGAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0173 a0003c0007t0002g0173	1	179	0.0056	207	c.101 others(224): Show c.1014-821_1014-820insTAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432147	C C	CAGGGTGG others(200): Show CAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0198 a0001c0004t0003g0198	1	184	0.0054	207	c.101 others(224): Show c.1014-813_1014-812insTTAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCZ_chr8_14079845_15243431	15012554	A A	ATATATAA others(200): Show ATATATAACATATAAATATATATTTATATAACATATAAATATATATTTAT ATAACATATAAATATATATTTATATAACATATAAATATATATTTATATAA CATATAAATATATATTTATATAACATATAAATATATATTTATATAACATA TAAATATATATTTATATAACATATAAATATATATTTATATAACATATAAA TATATATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19000.hp1 HG00438.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0090 a0001c0001t0071 a0001c0001t0090	a0001c0001t0071g0067 a0001c0001t0090g0084 a0001c0001t0071g0067 a0001c0001t0090g0084	2	76	0.0263	207	c.39+ others(226): Show c.39+225030_39+225031insAATATATATTTATATGTTATATAAAT ATATATTTATATGTTATATAAATATATATTTATATGTTATATAAATATAT ATTTATATGTTATATAAATATATATTTATATGTTATATAAATATATATTT ATATGTTATATAAATATATATTTATATGTTATATAAATATATATTTATAT GTTATATAAATATATATTTATATGTTATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGT others(200): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp2 others(47): Show HG00099.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG01099.hp1 HG01258.hp1 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02071.hp2 HG02129.hp1 HG02257.hp1 HG02300.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03704.hp2 HG03927.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0006c0011t0001g0144	50	115	0.4348	207	c.-15 others(226): Show c.-153-1450_-153-1449insCCCCCCCCACCGACTGTATCCAGACA TGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCG CCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGC ATCCAGACATGGTCAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070045	G G	GAGCCCCC others(200): Show GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCGC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGTATCAC ACTTATGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0061 a0002c0025t0004g0061	1	94	0.0106	207	c.224 others(226): Show c.2241+3587_2241+3588insGCATAAGTGTGATACCCGTGTGCTGG GGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGCGGCTCACTGGGGGCTG CATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGT GATGCCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A16_chr10_68472998_68532523	68529699	A A	ACATATAT others(200): Show ACATATATGTATATATTATATATGCATATATGTATATATTATATATGCAT ATATGTATATATTATATATGCATATATGTATATATTATATATGCATATAT GTATATATTATATAGGCATATATGTATATATTATATGTGCATATATGTAT ATATTATATGTGCATATATGTATATATTATATGTGCATATATGTATATAT TATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0291 a0001c0001t0049g0291	1	290	0.0034	207	c.-23 others(218): Show c.-2325_-2324insCATATATAATATATACATATATGCACATATAATA TATACATATATGCACATATAATATATACATATATGCACATATAATATATA CATATATGCCTATATAATATATACATATATGCATATATAATATATACATA TATGCATATATAATATATACATATATGCATATATAATATATACATATATG CATATATAATATATACATATATG	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2177		chr10	TogoVar
SLC25A16_chr10_68472998_68532523	68529699	A A	ACATATAT others(200): Show ACATATATGTATATATTATATATGCATATATGTATATATTATATATGCAT ATATGTATATATTATATATGCATATATGTATATATTATATATGCATATAT GTATATATTATATGTGCATATATGTATATATTATATGTGCATATATGTAT ATATTATATGTGCATATATGTATATATTATATGTGCATATATGTATATAT TATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0285 a0001c0001t0014g0285	1	290	0.0034	207	c.-23 others(218): Show c.-2325_-2324insCATATATAATATATACATATATGCACATATAATA TATACATATATGCACATATAATATATACATATATGCACATATAATATATA CATATATGCACATATAATATATACATATATGCATATATAATATATACATA TATGCATATATAATATATACATATATGCATATATAATATATACATATATG CATATATAATATATACATATATG	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding		2177		chr10	TogoVar
SLC66A2_chr18_79897420_79956653	79952600	G G	GGGGTGAG others(200): Show GGGGTGAGGGGCGCGCGAGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTG AGGGGAGCGCGGGTGAAGAGTGAGGGGAGCGCGGGTGAAGTGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGCGCGCGGGGTGAGGGGTGAGGGGTGAGGG GCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGGAGCG CGGGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	108	0.0093	207	c.-11 others(218): Show c.-1120_-1119insTTCACCCGCGCTCCCCCTCACCCCTCACCCACGC TCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCCCTCACCCCGC GCGCCCCTCACCCCTCACCCGCGCTCCCCTCACACTTCACCCGCGCTCCC CTCACTCTTCACCCGCGCTCCCCTCACCCCTCACCCACGCTCCCCTCACT CTTCACTCGCGCGCCCCTCACCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		948		chr18	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(200): Show ACAGACGCCCGAATCCTCACCCCGCAGACGCCCGAATCCCCACCCCACAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCAAATCCCCACCCCACAGACGCCCGAATCC TCACCCCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02559.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	113	0.0177	207	c.212 others(226): Show c.212-15600_212-15599insCGGGGTGAGGATTCGGGCGTCTGTGG GGTGGGGATTTGGGCGTCTGCGGGGTGAGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGAGA TTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGCGGGGTGAGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507847	C C	CCACCCCA others(200): Show CCACCCCACAGACGCCCGAATCCTCACCCCACAGACGCCCGAATCCCCAC CCCACAGACGCCCGAATCTCCACCCCACAGACGCCCGAATCCTCACCCCA CAGACACCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGA CGCCTGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGCC CGAATCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	215	0.0047	207	c.212 others(226): Show c.212-15777_212-15776insAGGATTCGGGCGTCTGTGGGGTGGAG ATTCGGGCGTCTGTGGGGTGGGGATTCAGGCGTCTGTGGGGTGGAGATTC GGGCGTCTGTGGGGTGGGGATTCGGGTGTCTGTGGGGTGAGGATTCGGGC GTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCT GTGGGGTGAGGATTCGGGCGTCTGTGGGGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507854	A A	ACAGACGC others(200): Show ACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAG ACGCCCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04115.hp1 NA18942.hp2 HG03688.hp2 HG04115.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0030 a0002c0002 a0001c0009 a0001c0030 a0002c0002	a0001c0009t0008 a0001c0030t0008 a0002c0002t0002 a0001c0009t0008 a0001c0030t0008 a0002c0002t0002	a0001c0009t0008g0151 a0001c0030t0008g0150 a0002c0002t0002g0149 a0001c0009t0008g0151 a0001c0030t0008g0150 a0002c0002t0002g0149	3	209	0.0144	207	c.212 others(226): Show c.212-15784_212-15783insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG GGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGTGGGGTGGGGATTCGGGCGTCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168592338	T T	TCTGAGCT others(200): Show TCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGAT CTCCAAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGA GGATCGCGGAGCTCCTCCTCCTTCCTGAGGCTTCACGGGCATCTTTCTAG AGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTA GAGGATGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	174	0.0057	207	c.638 others(224): Show c.638-6479_638-6478insTGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCGTCTTTCTAGAGGATCTCCAAGCTCCTCCTCCTTCCTGAGGCCTC ACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGG CTTCACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593210	C C	CGCCGAGC others(200): Show CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGA GGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTA GAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCT AGAGGATG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG04184.hp2 others(3): Show HG01346.hp1 HG02135.hp1 HG04184.hp2 NA18951.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0002t0002g0006 a0001c0002t0002g0031	6	147	0.0408	207	c.638 others(224): Show c.638-5583_638-5582insCCTCACGAGGGGCATCTTTCTAGAGGAT CGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGG ATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAG GATGGCCGAGCTCCTCCTCCTTCCTGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(200): Show ATATATATAAATATATAATATTTATATATTATATATATAATATATAATAT TTATATATTATATATATAAATATATAATATTTATATATTATATATATAAA TATATAATATTTATATATTATATATAAATATATAATATTTATATATTATA TATATAAATATATAATATTTATATATATTATATATAAATATATAATATTT ATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG00140.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	231	0.0087	207	c.-32 others(218): Show c.-3269_-3268insATATATATAAATATTATATATTTATATATAATAT ATATAAATATTATATATTTATATATATAATATATAAATATTATATATTTA TATATAATATATAAATATTATATATTTATATATATAATATATAAATATTA TATATTTATATATATAATATATAAATATTATATATTATATATATAATATA TAAATATTATATATTTATATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar

Search by Variant

Search

Search Results