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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SOS2_chr14_50112130_50236578	50209274	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	382	0.0026	32	c.88- others(47): Show c.88-4897_88-4866dupACACACACACACACACACACACACACACAC AC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02717.hp2 HG00642.hp2 HG02717.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	2	404	0.0050	32	c.-58 others(41): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX5_chr12_23524504_23954670	23530798	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0212 a0001c0002t0050g0212	1	212	0.0047	32	c.34 others(43): Show c.3420_*3421insACACACACACACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3420		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0123 a0001c0001t0116g0123	1	212	0.0047	32	c.34 others(43): Show c.3400_*3401insGCGCGCGCGCGCACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0079 a0001c0001t0095g0079	1	212	0.0047	32	c.34 others(43): Show c.3400_*3401insGCGCGCGCGCACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0107 a0001c0001t0120g0107	1	212	0.0047	32	c.116 others(51): Show c.1165-2311_1165-2280dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16283089	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	218	0.0046	32	c.445 others(51): Show c.445+35356_445+35357insTATATATATATATATATATATATATA TATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02735.hp2 NA18941.hp1 others(5): Show HG02071.hp2 HG02735.hp2 NA18941.hp1 NA18947.hp2 NA18979.hp1 NA18991.hp2 NA19005.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 a0001c0002t0028	a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 others(5): Show a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0091 a0001c0001t0013g0174 a0001c0001t0023g0093 a0001c0002t0028g0117	8	218	0.0367	32	c.-5+ others(47): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTTCCTTCCTCCCTCC CT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0085 a0001c0001t0008g0085	1	218	0.0046	32	c.-5+ others(47): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0064 a0001c0001t0016g0064	1	218	0.0046	32	c.-5+ others(47): Show c.-5+6378_-5+6379insCTTCCTTCCTTCTTCCTTCCTTCCTTCCTT CC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19240.hp1 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0051 a0001c0001t0020g0071 a0001c0001t0002g0051 a0001c0001t0020g0071	2	218	0.0092	32	c.-5+ others(47): Show c.-5+6378_-5+6379insCTTCCTTCTTCCTTCCTTCCTTCCTTCCTT CC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX8_chr16_976770_991979	991388	T T	TGTGGAGG others(25): Show TGTGGAGGGGACTTGGACAGGTGGTTCTCAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0002 a0001c0003t0046g0002	1	434	0.0023	32	c.60 others(43): Show c.6002_*6003insGTGGAGGGGACTTGGACAGGTGGTTCTCAGAC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4410		chr16	TogoVar
SOX8_chr16_976770_991979	991420	C C	CGTGGAGG others(25): Show CGTGGAGGGGACTTGGGCAGGTGGTTCTCAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0000 a0000	a0000c0012 a0000c0012	a0000c0012t0001 a0000c0012t0001	a0000c0012t0001g0001 a0000c0012t0001g0001	1	434	0.0023	32	c.60 others(43): Show c.6034_*6035insGTGGAGGGGACTTGGGCAGGTGGTTCTCAGAA	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4442		chr16	TogoVar
SP7_chr12_53321575_53341354	53333851	G G	GGACTCCC others(25): Show GGACTCCCCTTAGACTCCCCCCCCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0110 a0004c0007t0001g0110	1	370	0.0027	32	c.21+ others(47): Show c.21+1774_21+1775insGGGAGGGTTGGGGGGGGAGTCTAAGGGGAG TC	SP7	ENSG00000170374.6	transcript	ENST00000536324.4	protein_coding	2/2			chr12	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG04228.hp2 HG02129.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0137 a0001c0001t0001g0002 a0001c0001t0001g0137	2	205	0.0098	32	c.24 others(43): Show c.2410_*2411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213468487	A A	ATATCTAT others(25): Show ATATCTATGTATTTATATATAGATATATATATC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0086 a0007c0011t0001g0086	1	86	0.0116	32	c.943 others(51): Show c.943-21473_943-21472insCTATGTATTTATATATAGATATATAT ATCTAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869297	A A	ACGTATAT others(25): Show ACGTATATATATATATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18977.hp2 NA19087.hp2 NA18968.hp2 NA18977.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0070	3	86	0.0349	32	c.121 others(51): Show c.1214+6669_1214+6670insCGTATATATATATATGTGTGTATATA TATATG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	214177916	C C	CATATATA others(25): Show CATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	86	0.0116	32	c.172 others(53): Show c.1720+28668_1720+28669insATATATACATATATATATATATAT ATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214195303	T T	TGATAGAT others(25): Show TGATAGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0026	1	86	0.0116	32	c.172 others(53): Show c.1720+46038_1720+46069dupGATAGATAGATAGATAGATAGATA GATAGATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTCTGTGT others(25): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp1 NA20129.hp2 HG01891.hp1 HG02922.hp1 NA20129.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0004 a0011c0008 a0001c0001 a0004c0004 a0011c0008	a0001c0001t0001 a0004c0004t0001 a0011c0008t0001 a0001c0001t0001 a0004c0004t0001 a0011c0008t0001	a0001c0001t0001g0002 a0004c0004t0001g0020 a0011c0008t0001g0084 a0001c0001t0001g0002 a0004c0004t0001g0020 a0011c0008t0001g0084	3	86	0.0349	32	c.172 others(53): Show c.1721-57581_1721-57580insCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02559.hp2 HG02717.hp2 others(4): Show HG01256.hp1 HG02559.hp2 HG02717.hp2 HG03098.hp1 HG03471.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0033 a0002c0002t0001g0076 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0002c0002t0001g0076 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0005c0005t0001g0005	7	86	0.0814	32	c.172 others(53): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03688.hp1 HG03942.hp2 others(11): Show HG02698.hp1 HG03688.hp1 HG03942.hp2 NA18747.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18963.hp1 NA18973.hp2 NA19011.hp1 NA19056.hp2 NA19078.hp1 NA19079.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0008t0001 a0002c0002t0001 a0002c0008t0001	a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0017 others(11): Show a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0008t0001g0049	14	266	0.0526	32	c.135 others(51): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC ACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	320	0.0031	32	c.-58 others(41): Show c.-580_-579insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	330	0.0030	32	c.-18 others(43): Show c.-1805_-1804insATATATATATATATATTTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	330	0.0030	32	c.-18 others(43): Show c.-1805_-1804insATATATATATATATATATATATATATATATTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 NA19030.hp1 HG02280.hp1 HG02615.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0042 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0042	3	142	0.0211	32	c.146 others(51): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT ATATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAG9_chr17_50957174_51125868	51037685	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATAGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0192 a0002c0003t0011g0192	1	292	0.0034	32	c.741 others(49): Show c.741+3815_741+3816insACTATATATATATATATATATATATATA TATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077009	G G	GCTAGCTA others(25): Show GCTAGCTAGCTATCTAGCTATCTATCTAGCTAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	292	0.0034	32	c.424 others(49): Show c.424+2543_424+2574dupATAGCTAGATAGATAGCTAGATAGCTAG CTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077093	T T	TCTAGCTA others(25): Show TCTAGCTAGCTATCTAGCTATCTAGCTAGCTAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	292	0.0034	32	c.424 others(49): Show c.424+2490_424+2491insCTAGCTAGCTAGATAGCTAGATAGCTAG CTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51095992	G G	GATATATA others(25): Show GATATATATATAGTGATATATATATATAGTGAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	292	0.0034	32	c.304 others(51): Show c.304-16320_304-16289dupATCACTATATATATATATCACTATAT ATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51096006	G G	GATATATA others(25): Show GATATATATATAGTGATATATATATATAGTGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01070.hp1 others(12): Show HG00140.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG02148.hp1 HG02572.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp2 NA18522.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0002c0003t0010 a0002c0003t0018	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0004g0176 others(12): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0013g0177 a0001c0001t0013g0180 a0002c0003t0010g0194 a0002c0003t0010g0195 a0002c0003t0018g0197	15	292	0.0514	32	c.304 others(51): Show c.304-16303_304-16302insATCACTATATATATATATCACTATAT ATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATATAT others(25): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19091.hp1 HG03669.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0181 a0001c0001t0001g0162 a0001c0001t0001g0181	2	342	0.0059	32	c.416 others(49): Show c.416-3715_416-3714insATATATATATTTTTTTTTTTTTTTTTTT TTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32110865	C C	CAGTATAC others(25): Show CAGTATACTATATAGTGTGTATAGAGTATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	342	0.0029	32	c.683 others(49): Show c.683-3761_683-3760insAGTGTGTATAGAGTATATATAGTATACT ATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190034	A A	ATATATAT others(25): Show ATATATATCATTATATAACATAATGATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 NA19240.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0029 a0001c0005 a0001c0006 a0001c0029	a0001c0005t0003 a0001c0006t0077 a0001c0029t0086 a0001c0005t0003 a0001c0006t0077 a0001c0029t0086	a0001c0005t0003g0002 a0001c0006t0077g0156 a0001c0029t0086g0209 a0001c0005t0003g0002 a0001c0006t0077g0156 a0001c0029t0086g0209	3	356	0.0084	32	c.-11 others(53): Show c.-112+29109_-112+29110insCATTATATAACATAATGATATATA TTATATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG01884.hp2 others(17): Show HG00099.hp1 HG01106.hp1 HG01884.hp2 HG01891.hp2 HG02523.hp2 HG02615.hp1 HG02738.hp2 HG03130.hp2 HG03486.hp1 HG03710.hp1 NA18951.hp1 NA18982.hp2 NA18992.hp1 NA18999.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0021	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0048 a0002c0007 a0005c0010 a0006c0017 a0007c0015 a0021c0034	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(16): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0061 a0001c0002t0001 a0001c0002t0052 a0001c0002t0054 a0001c0003t0004 a0001c0004t0001 a0001c0004t0033 a0001c0004t0073 a0001c0005t0016 a0001c0048t0010 a0002c0007t0087 a0002c0007t0120 a0005c0010t0074 a0006c0017t0041 a0007c0015t0078 a0021c0034t0040	a0001c0001t0003g0297 a0001c0001t0006g0033 a0001c0001t0023g0228 others(17): Show a0001c0001t0003g0297 a0001c0001t0006g0033 a0001c0001t0023g0228 a0001c0001t0061g0170 a0001c0002t0001g0066 a0001c0002t0001g0136 a0001c0002t0052g0012 a0001c0002t0054g0300 a0001c0003t0004g0070 a0001c0004t0001g0088 a0001c0004t0033g0314 a0001c0004t0073g0101 a0001c0005t0016g0106 a0001c0048t0010g0296 a0002c0007t0087g0353 a0002c0007t0120g0339 a0005c0010t0074g0273 a0006c0017t0041g0097 a0007c0015t0078g0349 a0021c0034t0040g0342	20	356	0.0562	32	c.65 others(43): Show c.6510_*6511insTATATATATATATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	200	0.0050	32	c.759 others(49): Show c.759-8439_759-8438insAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp1 HG02273.hp2 HG01496.hp1 HG02273.hp1 HG02273.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0013 a0001c0001 a0003c0003 a0006c0013	a0001c0001t0001 a0003c0003t0001 a0006c0013t0001 a0001c0001t0001 a0003c0003t0001 a0006c0013t0001	a0001c0001t0001g0033 a0003c0003t0001g0076 a0006c0013t0001g0068 a0001c0001t0001g0033 a0003c0003t0001g0076 a0006c0013t0001g0068	3	200	0.0150	32	c.759 others(49): Show c.759-8439_759-8438insAAGGAAAGAAGGAAGGGAGGGAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	200	0.0050	32	c.759 others(49): Show c.759-8439_759-8438insAAGGAAGGAAAGAAGGAAGGGAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG06807.hp2 HG02698.hp1 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0147 a0003c0003t0001g0161 a0002c0002t0001g0147 a0003c0003t0001g0161	2	200	0.0100	32	c.759 others(49): Show c.759-8439_759-8438insAAGGAAGGAAGGAAAGAAGGAAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028015	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	200	0.0050	32	c.759 others(49): Show c.759-8441_759-8440insAGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTATAT others(25): Show CTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	252	0.0040	32	c.519 others(49): Show c.519+7888_519+7889insCTATATATATATATATATATATATATAT ATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0217 a0001c0003t0003g0217	1	252	0.0040	32	c.519 others(49): Show c.519+7888_519+7889insCTCTCTCTCTATATATATATATATATAT ATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA18_chr4_52046304_52102299	52091617	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	308	0.0033	32	c.156 others(51): Show c.1564-2910_1564-2909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPATA18	ENSG00000163071.11	transcript	ENST00000295213.9	protein_coding	11/12			chr4	TogoVar
SPATA31A1_chr9_39350669_39366962	39365573	C C	CTGTGAAG others(25): Show CTGTGAAGCCTCTGGGACACCCAGATACTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	424	0.0024	32	c.37 others(43): Show c.3764_*3765insTGTGAAGCCTCTGGGACACCCAGATACTGTCA	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding		3612		chr9	TogoVar
SPATA48_chr7_50090883_50164256	50110812	A A	ATATAATA others(25): Show ATATAATATATAATCATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp1 HG01884.hp2 others(38): Show HG00280.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18954.hp1 NA18981.hp2 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19043.hp1 NA19058.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0002c0010 a0003c0006 a0004c0004 a0004c0007 a0008c0013	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0002c0010t0001 a0003c0006t0001 a0004c0004t0001 a0004c0007t0001 a0008c0013t0001	a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 others(38): Show a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0005t0001g0251 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 a0002c0005t0001g0258 a0002c0005t0001g0259 a0002c0005t0001g0260 a0002c0005t0001g0261 a0002c0005t0001g0262 a0002c0005t0001g0263 a0002c0005t0001g0264 a0002c0005t0001g0306 a0002c0005t0001g0310 a0002c0010t0001g0308 a0002c0010t0001g0309 a0003c0006t0001g0250 a0004c0004t0001g0104 a0004c0004t0001g0229 a0004c0007t0001g0304 a0004c0007t0001g0305 a0004c0007t0001g0307 a0008c0013t0001g0109	41	328	0.1250	32	c.651 others(49): Show c.651+6415_651+6446dupCATATTATATATTATATATTATAATATA TAAT	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	408	0.0025	32	c.352 others(47): Show c.352-602_352-601insTATATATATATATATATATATATACACACA CA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	300	0.0033	32	c.39+ others(47): Show c.39+6751_39+6752insAAAAAAAAAAAAAAAAAATATATATATATA TA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02015.hp2 HG02109.hp2 others(13): Show HG00642.hp1 HG02015.hp2 HG02109.hp2 HG02896.hp2 HG03490.hp1 HG03831.hp1 HG03834.hp2 NA18940.hp1 NA18960.hp1 NA18967.hp2 NA18982.hp1 NA18993.hp1 NA19005.hp1 NA19058.hp2 NA19072.hp1 NA19086.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0078 a0001c0002t0069 a0003c0006t0032 a0005c0011t0001	a0001c0001t0001g0216 a0001c0001t0002g0175 a0001c0001t0002g0177 others(13): Show a0001c0001t0001g0216 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0249 a0001c0001t0003g0122 a0001c0001t0007g0272 a0001c0001t0008g0017 a0001c0001t0011g0158 a0001c0001t0013g0069 a0001c0001t0018g0079 a0001c0001t0078g0057 a0001c0002t0069g0053 a0003c0006t0032g0012 a0005c0011t0001g0222	16	300	0.0533	32	c.957 others(47): Show c.957+949_957+980dupACACACACACACACACACACACACACACAC AC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49362869	C C	CAACTGAA others(25): Show CAACTGAAACCAAACAAAAACATTAAAGTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG03041.hp2 others(2): Show HG02615.hp2 HG02886.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158	5	158	0.0317	32	c.-50 others(43): Show c.-5025_-5024insAACTGAAACCAAACAAAAACATTAAAGTTCTG	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding		4592		chr12	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02647.hp1 NA18939.hp1 others(3): Show HG01891.hp2 HG02647.hp1 NA18939.hp1 NA19006.hp1 NA19078.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0047 a0001c0001t0061 a0001c0001t0046 a0001c0001t0047 a0001c0001t0061	a0001c0001t0046g0097 a0001c0001t0046g0137 a0001c0001t0047g0024 others(1): Show a0001c0001t0046g0097 a0001c0001t0046g0137 a0001c0001t0047g0024 a0001c0001t0061g0033	6	438	0.0137	32	c.71 others(41): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar

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