Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
SOD3_chr4_24790573_24805842	24797545	A A	AGTATCCC others(32): Show AGTATCCCTATTTACAGATGAGAAAACTGAGGTTCACAGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	466	0.0022	39	c.-17 others(56): Show c.-17+1896_-16-1921dupTATCCCTATTTACAGATGAGAAAACTGA GGTTCACAGGG	SOD3	ENSG00000109610.6	transcript	ENST00000382120.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0167 a0001c0011t0002g0167	1	420	0.0024	39	c.641 others(56): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	300	0.0033	39	c.-46 others(58): Show c.-46+23148_-46+23149insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0083 a0002c0004t0014g0083	1	168	0.0060	39	c.481 others(58): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATATATTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0028 a0001c0028t0028	a0001c0028t0028g0152 a0001c0028t0028g0152	1	168	0.0060	39	c.481 others(58): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATATTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0019 a0001c0002t0058g0019	1	168	0.0060	39	c.481 others(58): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18966.hp1 HG02056.hp2 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0041 a0001c0003t0002 a0001c0002t0041 a0001c0003t0002	a0001c0002t0041g0096 a0001c0003t0002g0073 a0001c0002t0041g0096 a0001c0003t0002g0073	2	168	0.0119	39	c.481 others(58): Show c.481-22809_481-22808insATATATATATATATATATATATATAT TTTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	105137870	A A	ACCAAATT others(32): Show ACCAAATTAAACAAATACATACAATCATGTGAGAACTAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	134	0.0075	39	c.121 others(58): Show c.1213-1526_1213-1488dupCCAAATTAAACAAATACATACAATCA TGTGAGAACTAAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORT1_chr1_109304575_109402918	109363764	A A	AAAAACAG others(32): Show AAAAACAGAAAAATCTTCAGAGTGGGTTCAATGGGCTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	240	0.0042	39	c.440 others(56): Show c.440+3605_440+3643dupAAAAGCCCATTGAACCCACTCTGAAGAT TTTTCTGTTTT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	3/19			chr1	TogoVar
SP140L_chr2_230322193_230408732	230402613	A A	AATTATTC others(32): Show AATTATTCCAATAATGAAAAATCAAACATACACTGTGATT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	336	0.0030	39	c.164 others(56): Show c.1645-176_1645-175insATAATGAAAAATCAAACATACACTGTGA TTATTATTCCA	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAAR_chr9_35904490_35916686	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCACCACCACCACCACACCCCTCACCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	420	0.0024	39	c.-32 others(50): Show c.-3283_-3282insCCACCACCACCACCACCACCACCACACCCCTCAC CACCT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2900		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCACCACCCCCGCCACACCCCTCACCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01496.hp2 HG02015.hp1 others(22): Show HG00408.hp1 HG01496.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02155.hp2 HG02280.hp2 HG02293.hp1 HG02647.hp1 HG03486.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18955.hp1 NA18964.hp1 NA18966.hp1 NA18977.hp1 NA18984.hp1 NA18995.hp2 NA19009.hp1 NA19058.hp1 NA19068.hp1 NA19081.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0013g0002 a0001c0001t0015g0003 a0002c0002t0002g0002	25	420	0.0595	39	c.-32 others(50): Show c.-3283_-3282insCCACCACCACCACCACCCCCGCCACACCCCTCAC CACCT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2900		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCACCCCCACCGCCACACCCCTCACCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	39	c.-32 others(50): Show c.-3283_-3282insCCACCACCACCACCCCCACCGCCACACCCCTCAC CACCT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2900		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906589	A A	ACCACCAC others(32): Show ACCACCACCACCCCCACCCCCGCCACACCCCTCACCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	39	c.-32 others(50): Show c.-3283_-3282insCCACCACCACCCCCACCCCCGCCACACCCCTCAC CACCT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2900		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906598	A A	ACCACCAC others(32): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18956.hp2 NA18966.hp2 others(2): Show NA18940.hp2 NA18956.hp2 NA18966.hp2 NA18980.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	420	0.0119	39	c.-32 others(50): Show c.-3274_-3273insCCACCACCCCCGCCACACCCCTCACCACCTCCAC CACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2891		chr9	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	39	c.-58 others(48): Show c.-580_-579insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AGGAAAGA others(32): Show AGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	320	0.0031	39	c.-58 others(48): Show c.-580_-579insGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGA AAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	39	c.-18 others(50): Show c.-1805_-1804insATATATATATATATATATATATATATATATATTT TTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	330	0.0030	39	c.-18 others(50): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT TTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 NA18906.hp2 NA18973.hp1 HG00140.hp2 NA18906.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0029	3	330	0.0091	39	c.-18 others(50): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT ATTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp1 HG01258.hp1 others(3): Show HG00639.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01928.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0246 others(3): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0246 a0001c0001t0001g0261 a0001c0005t0001g0209 a0001c0005t0001g0249	6	292	0.0206	39	c.741 others(56): Show c.741+3809_741+3810insTATATATATATATATATATATATATATA TATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPANXN1_chrX_145242503_145261208	145255957	A A	ACTTACCT others(32): Show ACTTACCTGAAGGATCTTCAAAGCAGAATGAAGACCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	334	0.0030	39	c.16 others(48): Show c.169_*207dupAATGAAGACCTAGGCTTACCTGAAGGATCTTCAAAG CAG	SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding	2/2	208	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPAST_chr2_32058556_32162637	32111624	T T	TTTTTTTT others(32): Show TTTTTTTTGTTCTCTAACTTTATATTATAGGTATATACTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0200 a0001c0001t0014g0200	1	342	0.0029	39	c.683 others(56): Show c.683-3009_683-2971dupTTTGTTCTCTAACTTTATATTATAGGTA TATACTCTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24309306	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0129 a0001c0002t0129	a0001c0002t0129g0032 a0001c0002t0129g0032	1	356	0.0028	39	c.65 others(50): Show c.6533_*6534insATATATATATATATATATATATATATATATATAT ATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2238		chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46169242	T T	TCTGCTCT others(32): Show TCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01070.hp1 others(18): Show HG00323.hp1 HG00597.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG02523.hp1 HG02738.hp2 HG03654.hp1 HG03669.hp1 NA18983.hp2 NA19004.hp1 NA19065.hp2 NA19076.hp2 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0003c0004t0007 a0003c0004t0012 a0003c0004t0034 a0003c0004t0037	a0001c0001t0001g0016 a0001c0001t0001g0151 a0001c0001t0001g0152 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0015 a0001c0001t0024g0022 a0003c0004t0007g0018 a0003c0004t0007g0167 a0003c0004t0007g0168 a0003c0004t0007g0169 a0003c0004t0007g0170 a0003c0004t0007g0171 a0003c0004t0012g0104 a0003c0004t0012g0154 a0003c0004t0034g0155 a0003c0004t0037g0166	21	251	0.0837	39	c.194 others(54): Show c.194-585_194-584insGAGGCTCCTCCCCATCCACAGAGGATGCTC ACAGAGCAG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46170403	T T	TCCTGCTC others(32): Show TCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0171 a0003c0004t0007g0171	1	251	0.0040	39	c.194 others(56): Show c.194-1746_194-1745insGGGCTCCTCCCCATCCACAGAGGATGTT CACAGAGCAGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPDYE12_chr7_74899289_74920078	74916969	T T	TGGCTGGG others(32): Show TGGCTGGGGTGCAGTGGTACAATCAGCTCTCTGTTGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	350	0.0029	39	c.-24 others(50): Show c.-2467_-2466insGAGGCAACAGAGAGCTGATTGTACCACTGCACCC CAGCC	SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding		1892		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20317259	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0101 a0001c0001t0093g0101	1	250	0.0040	39	c.32 others(50): Show c.3215_*3216insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	15/15	3216	INFO_REALIGN_3_PRIME	chr17	TogoVar
SPG7_chr16_89503403_89562766	89517239	A A	ATTCCTGG others(32): Show ATTCCTGGAAGGAATGGCATGGCAGCCTCCGTTGTCATGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	358	0.0028	39	c.376 others(56): Show c.376+4211_376+4249dupAGGAATGGCATGGCAGCCTCCGTTGTCA TGGTTCCTGGA	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	400	0.0025	39	c.391 others(54): Show c.391+322_391+323insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	328	0.0031	39	c.372 others(58): Show c.372+19716_372+19717insATATATATATATATATATATATATTT TTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89852013	T T	TCTCCCCC others(32): Show TCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG02015.hp2 others(3): Show HG00597.hp1 HG00733.hp2 HG02015.hp2 HG03927.hp2 NA18967.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0107 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0354 a0004c0004t0001g0195 a0004c0004t0001g0197	6	356	0.0169	39	c.645 others(56): Show c.645+1361_645+1399dupCACCCCCCAGATCCCCTGGCCCATCTTC CATCCTCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852115	T T	TGGCCCAT others(32): Show TGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0009 a0001c0008t0001g0009	1	356	0.0028	39	c.645 others(56): Show c.645+1473_645+1474insTCCCCACCCCCCAGATCCCACGGCCCAT CTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852221	C C	CCCAGATC others(32): Show CCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	356	0.0028	39	c.645 others(56): Show c.645+1570_645+1571insCTGGCCCATCTTCCATCCTCCCCCAACC CGCCAGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852228	C C	CCCATGGC others(32): Show CCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02015.hp1 HG00323.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0031 a0002c0002t0002g0023 a0002c0002t0002g0031	2	356	0.0056	39	c.645 others(56): Show c.645+1590_645+1591insTCCCCACCCCCCAGATTCCATGGCCCAT CTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852255	C C	CACCCCCC others(32): Show CACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19081.hp2 HG01934.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0267 a0001c0001t0001g0177 a0001c0001t0001g0267	2	356	0.0056	39	c.645 others(56): Show c.645+1599_645+1600insCCCAGATCCCCTGGCCCATCTTCCATCC TCCCCCAACCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852270	A A	ATGGCCCA others(32): Show ATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	356	0.0028	39	c.645 others(56): Show c.645+1629_645+1630insCCCCCACCCCCCAGATCCCCTGGCCCAT CTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCAGATC others(32): Show CCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	356	0.0028	39	c.645 others(56): Show c.645+1755_645+1756insACCAGATCCCATGGCCCATCTTCCATCC TCCCCCCACCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCAGATC others(32): Show CCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	356	0.0028	39	c.645 others(56): Show c.645+1746_645+1747insTCCCCACCCACCAGATCCCATGGCCCAT CTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCAGATC others(32): Show CCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02083.hp2 NA18967.hp2 HG01934.hp2 HG02083.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0177 a0001c0001t0001g0253 a0001c0001t0001g0100 a0001c0001t0001g0177 a0001c0001t0001g0253	3	356	0.0084	39	c.645 others(56): Show c.645+1726_645+1727insCTGGCCCATCTTCCATCCTCCCCCAACC CGCCAGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852387	A A	ATGGCCCA others(32): Show ATGGCCCATCTTCCATCCTCCCCCAACCCGCCAGATCCCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	356	0.0028	39	c.645 others(56): Show c.645+1750_645+1751insAACCCGCCAGATCCCCTGGCCCATCTTC CATCCTCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852440	A A	ATCCTCCC others(32): Show ATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	356	0.0028	39	c.645 others(56): Show c.645+1785_645+1786insCCTCCACCCCCCGGATCCCCTGGCCCAT CTTCCGTCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852528	C C	CACCCCCC others(32): Show CACCCCCCATATTCCATGGCCCGTCTTCCATCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG02165.hp1 others(2): Show HG02015.hp1 HG02080.hp1 HG02165.hp1 NA18947.hp2 NA19070.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0002 a0005c0007t0002 a0002c0002t0002 a0005c0007t0002	a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0053 others(2): Show a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0053 a0005c0007t0002g0041 a0005c0007t0002g0052	5	356	0.0140	39	c.646 others(56): Show c.646-1751_646-1750insATATTCCATGGCCCGTCTTCCATCCTCC CCCAACCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852543	C C	CTGGCCCA others(32): Show CTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0017 a0001c0009t0001g0017	1	356	0.0028	39	c.646 others(56): Show c.646-1730_646-1729insATCCTCCCCCCACCCCCCGGATCCCATG GCCCATCTTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852575	G G	GGATCCCC others(32): Show GGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCCCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG01934.hp1 others(1): Show HG00642.hp1 HG01123.hp1 HG01934.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085	4	356	0.0112	39	c.646 others(56): Show c.646-1683_646-1682insCCAACCCCCCAGATCCCCTGGCCCATCT TCCATCCTCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852604	T T	TCCACCCC others(32): Show TCCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	356	0.0028	39	c.646 others(56): Show c.646-1673_646-1672insGGATCCCCTGGCCCATCTTCCGTCCTCT CCCCACCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852606	C C	CACCCCCC others(32): Show CACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp2 HG01884.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0156 a0001c0001t0001g0164	2	356	0.0056	39	c.646 others(56): Show c.646-1673_646-1672insGGATCCCATGGCCCATCTTCCATCCTCC CCCAACCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852621	C C	CTGGCCCA others(32): Show CTGGCCCATCTTCCGTCCTCCCCCCACCCCCCATATTCCA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0019 a0001c0009t0001g0019	1	356	0.0028	39	c.646 others(56): Show c.646-1659_646-1658insATCTTCCGTCCTCCCCCCACCCCCCATA TTCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852645	T T	TCACCCCC others(32): Show TCACCCCCTGGATCCCCTGGCCCATCTTCCATCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	356	0.0028	39	c.646 others(56): Show c.646-1634_646-1633insTGGATCCCCTGGCCCATCTTCCATCCTC CCTCCACCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852741	A A	ATGGCCCA others(32): Show ATGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	356	0.0028	39	c.646 others(56): Show c.646-1539_646-1538insATCTTCCATCCTCCCTCCACCCCCCAGA TCCCCTGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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