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
SORCS2_chr4_7187538_7747827	7706771	A A	AGATGAGG others(20): Show AGATGAGGCTGGGCTCTGTCTGGGCAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0029 a0003c0012 a0001c0029 a0003c0012	a0001c0029t0074 a0003c0012t0055 a0001c0029t0074 a0003c0012t0055	a0001c0029t0074g0162 a0003c0012t0055g0033 a0001c0029t0074g0162 a0003c0012t0055g0033	2	168	0.0119	27	c.186 others(46): Show c.1868+2526_1868+2552dupGCTCTGTCTGGGCAGGGATGAGGCTG G	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0109 a0009c0019t0002g0109	1	134	0.0075	27	c.627 others(46): Show c.627+29372_627+29398dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0064 a0001c0018t0002g0064	1	134	0.0075	27	c.627 others(46): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0107 a0001c0011t0001g0107	1	272	0.0037	27	c.168 others(46): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp1 HG03492.hp1 HG00642.hp2 HG03490.hp1 HG03492.hp1	a0002 a0008 a0002 a0008	a0002c0026 a0008c0024 a0002c0026 a0008c0024	a0002c0026t0005 a0008c0024t0002 a0002c0026t0005 a0008c0024t0002	a0002c0026t0005g0245 a0008c0024t0002g0033 a0008c0024t0002g0034 a0002c0026t0005g0245 a0008c0024t0002g0033 a0008c0024t0002g0034	3	272	0.0110	27	c.205 others(46): Show c.2051+1990_2051+2016dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04115.hp2 HG03927.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0104 a0001c0001t0001g0105	2	246	0.0081	27	c.865 others(44): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0355 a0001c0005t0001g0355	1	382	0.0026	27	c.511 others(42): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03098.hp2 HG01069.hp1 HG01071.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	3	404	0.0074	27	c.-58 others(36): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	394	0.0025	27	c.188 others(46): Show c.1881-5353_1881-5327dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23872164	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0065 a0001c0001t0033g0065	1	212	0.0047	27	c.270 others(46): Show c.270+23602_270+23628dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SP100_chr2_230411201_230550606	230414806	A A	ATGAGAGA others(20): Show ATGAGAGAAAGAGAGAGAGACCTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02809.hp2 HG02257.hp2 HG02559.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0008 a0002c0005t0001 a0001c0003t0008 a0002c0005t0001	a0001c0003t0008g0255 a0001c0003t0008g0256 a0002c0005t0001g0257 a0001c0003t0008g0255 a0001c0003t0008g0256 a0002c0005t0001g0257	3	290	0.0103	27	c.-14 others(38): Show c.-1491_-1490insTGAGAGAAAGAGAGAGAGACCTACAGG	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding		1394		chr2	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	205	0.0049	27	c.23 others(38): Show c.2384_*2410dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0086 a0007c0011t0001g0086	1	86	0.0116	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAAAATATATATATATATATACGT A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19087.hp1 HG02717.hp1 NA19087.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0009 a0003c0003 a0009c0009	a0003c0003t0001 a0009c0009t0001 a0003c0003t0001 a0009c0009t0001	a0003c0003t0001g0080 a0009c0009t0001g0085 a0003c0003t0001g0080 a0009c0009t0001g0085	2	86	0.0233	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAATATATATATATATATATACGT A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATACGTAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	86	0.0116	27	c.121 others(46): Show c.1214+6637_1214+6638insAAATATATATATATATATATACGTAT A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0041 a0003c0003t0002g0042 a0003c0003t0001g0041 a0003c0003t0002g0042	2	86	0.0233	27	c.121 others(46): Show c.1214+6637_1214+6638insAAATATATATATATATATATATACGT A	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(20): Show AAAAAAAAAAAATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	86	0.0116	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAAAAAAAATATATATATATATAC G	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(20): Show AAAAAAAAAATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03831.hp2 HG02922.hp1 HG03831.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0008 a0001c0001 a0011c0008	a0001c0001t0001 a0011c0008t0001 a0001c0001t0001 a0011c0008t0001	a0001c0001t0001g0030 a0011c0008t0001g0084 a0001c0001t0001g0030 a0011c0008t0001g0084	2	86	0.0233	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAAAAAATATATATATATATATAC G	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAAAAAA others(20): Show AAAAAAAATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	86	0.0116	27	c.121 others(46): Show c.1214+6637_1214+6638insAAAAAAATATATATATATATATATAC G	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AAAATATA others(20): Show AAAATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	86	0.0116	27	c.121 others(46): Show c.1214+6637_1214+6638insAAATATATATATATATATATATATAC G	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949178	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0028 a0003c0003t0001g0028	1	86	0.0116	27	c.140 others(48): Show c.1400+19048_1400+19049insTTTTTTGTTTTGTTTTTTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(20): Show TTTTTTTTTTTGTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0086 a0007c0011t0001g0086	1	86	0.0116	27	c.140 others(48): Show c.1400+19044_1400+19045insGTTTTTTTGTTTTTTTGTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTGTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0031	1	86	0.0116	27	c.140 others(48): Show c.1400+19047_1400+19048insGTTTTTTTGTTTTGTTTTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19087.hp1 NA18977.hp1 NA19087.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0009 a0003c0003 a0009c0009	a0003c0003t0001 a0009c0009t0001 a0003c0003t0001 a0009c0009t0001	a0003c0003t0001g0046 a0009c0009t0001g0085 a0003c0003t0001g0046 a0009c0009t0001g0085	2	86	0.0233	27	c.140 others(48): Show c.1400+19048_1400+19049insTTTTTTTGTTTTGTTTTTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0029	1	86	0.0116	27	c.140 others(48): Show c.1400+19048_1400+19049insTTTTTTTTTTTTGTTTTTTTTTTT TTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0250 a0003c0004t0001g0250	1	366	0.0027	27	c.300 others(44): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG1_chr8_100153587_100246904	100213013	C C	CCCGCGGC others(20): Show CCCGCGGCCTCCGCGGCCTCCGCGGCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0109 a0001c0003t0003g0109	1	366	0.0027	27	c.109 others(42): Show c.1097-52_1097-51insCTCCGCGGCCTCCGCGGCCTCCGCGGC	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	27	c.-58 others(36): Show c.-580_-579insAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615460	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	320	0.0031	27	c.-54 others(36): Show c.-544_-543insAAAGAAAGAAAGAAAGAAAAGAAAAGA	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		368		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 NA18522.hp2 HG02602.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0001g0011 a0001c0001t0001g0069	2	330	0.0061	27	c.-18 others(38): Show c.-1805_-1804insATATATATATATATATATTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00738.hp2 others(9): Show HG00323.hp2 HG00621.hp1 HG00738.hp2 HG01257.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 NA18984.hp2 NA18994.hp2 NA18995.hp2 NA19057.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 others(9): Show a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0003g0203 a0001c0005t0001g0255	12	292	0.0411	27	c.741 others(44): Show c.741+3809_741+3810insTATATATATATATATATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPANXD_chrX_141692411_141703739	141699994	A A	ATTGTTTT others(20): Show ATTGTTTTGGATATTAAAGCCTCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0011 a0006c0006t0004g0011	1	334	0.0030	27	c.-15 others(38): Show c.-1590_-1589insGAGAGGAGGCTTTAATATCCAAAACAA	SPANXD	ENSG00000196406.4	transcript	ENST00000370515.3	protein_coding		1256		chrX	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TAATATAT others(20): Show TAATATATAATATATTATATATAAAAGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0064 a0001c0005t0064	a0001c0005t0064g0121 a0001c0005t0064g0121	1	356	0.0028	27	c.-11 others(48): Show c.-112+28752_-112+28753insATATATAATATATTATATATAAAA GCA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24291749	T T	TTAATTTT others(20): Show TTAATTTTTTTTTATTTTTTATTTTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01433.hp2 others(7): Show HG00140.hp1 HG01123.hp2 HG01433.hp2 HG02622.hp1 HG02886.hp2 HG03098.hp1 HG03209.hp1 HG03490.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0009 a0010 a0014	a0001c0002 a0002c0007 a0006c0017 others(4): Show a0001c0002 a0002c0007 a0006c0017 a0009c0042 a0009c0045 a0010c0020 a0014c0033	a0001c0002t0012 a0001c0002t0013 a0001c0002t0042 others(7): Show a0001c0002t0012 a0001c0002t0013 a0001c0002t0042 a0001c0002t0084 a0002c0007t0021 a0006c0017t0053 a0009c0042t0067 a0009c0045t0092 a0010c0020t0101 a0014c0033t0126	a0001c0002t0012g0221 a0001c0002t0013g0075 a0001c0002t0042g0099 others(7): Show a0001c0002t0012g0221 a0001c0002t0013g0075 a0001c0002t0042g0099 a0001c0002t0084g0104 a0002c0007t0021g0158 a0006c0017t0053g0271 a0009c0042t0067g0341 a0009c0045t0092g0071 a0010c0020t0101g0025 a0014c0033t0126g0252	10	356	0.0281	27	c.308 others(44): Show c.3080+866_3080+867insAATTTTTTTTTATTTTTTATTTTTTAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA17_chr1_217626344_217876696	217786750	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA20300.hp2 NA18941.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0014 a0001c0003t0003 a0001c0008t0014	a0001c0003t0003g0235 a0001c0008t0014g0213 a0001c0003t0003g0235 a0001c0008t0014g0213	2	252	0.0079	27	c.872 others(44): Show c.872+4465_872+4491dupTTCTTCTTCTTCTTCTTCTTCTTCTTC	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	420	0.0024	27	c.329 others(44): Show c.329+3627_329+3628insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp1 HG01261.hp1 others(10): Show HG00735.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01517.hp2 HG02027.hp1 HG02818.hp1 HG03654.hp1 HG03942.hp1 NA19001.hp1 NA19010.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0001t0001 a0001c0001t0006 a0001c0001t0027	a0001c0001t0001g0008 a0001c0001t0006g0008 a0001c0001t0027g0008 a0001c0001t0001g0008 a0001c0001t0006g0008 a0001c0001t0027g0008	13	360	0.0361	27	c.293 others(40): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4648714	T T	TAAATAAA others(20): Show TAAATAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01243.hp1 others(4): Show HG00408.hp1 HG00639.hp2 HG01243.hp1 HG02071.hp2 HG02559.hp2 HG02735.hp1 HG03139.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0003c0003 a0015c0010 a0001c0001 a0003c0003 a0015c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 a0003c0003t0005 a0015c0010t0002	a0001c0001t0001g0173 a0001c0001t0003g0019 a0001c0001t0018g0078 others(4): Show a0001c0001t0001g0173 a0001c0001t0003g0019 a0001c0001t0018g0078 a0001c0001t0019g0179 a0003c0003t0005g0064 a0003c0003t0005g0083 a0015c0010t0002g0059	7	408	0.0172	27	c.226 others(44): Show c.226+7326_226+7327insTTTATTTATTTATTTATTTATTTATTT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA7_chr14_88380657_88443460	88415494	T T	TTTTTTTA others(20): Show TTTTTTTAAAAAATAAAATATTTTTTTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG03540.hp1 others(1): Show HG02559.hp2 HG02886.hp1 HG03540.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0012 a0004c0004t0001g0279 a0004c0004t0001g0012 a0004c0004t0001g0279	4	364	0.0110	27	c.239 others(44): Show c.239-1211_239-1210insAAAAAATAAAATATTTTTTTGTTTTTT	SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0047 a0007c0007t0047	a0007c0007t0047g0227 a0007c0007t0047g0227	1	300	0.0033	27	c.39+ others(42): Show c.39+6751_39+6752insAAAAAAATATATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00735.hp1 others(3): Show HG00423.hp1 HG00597.hp2 HG00735.hp1 NA18974.hp1 NA19067.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0077 a0001c0001t0117 others(1): Show a0001c0001t0023 a0001c0001t0077 a0001c0001t0117 a0001c0001t0143	a0001c0001t0023g0088 a0001c0001t0023g0096 a0001c0001t0023g0104 others(3): Show a0001c0001t0023g0088 a0001c0001t0023g0096 a0001c0001t0023g0104 a0001c0001t0077g0283 a0001c0001t0117g0287 a0001c0001t0143g0135	6	438	0.0137	27	c.71 others(36): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19068.hp2 NA18975.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0148 a0001c0001t0004g0147 a0001c0001t0001g0148 a0001c0001t0004g0147	2	378	0.0053	27	c.114 others(44): Show c.114+6452_114+6453insTATATATATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYC_chr11_65165233_65178374	65166391	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	442	0.0023	27	c.-39 others(38): Show c.-3902_-3901insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3841		chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG03225.hp2 HG02647.hp1 HG02970.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0019 a0001c0005t0002 a0001c0001t0003 a0001c0001t0019 a0001c0005t0002	a0001c0001t0003g0039 a0001c0001t0019g0047 a0001c0005t0002g0148 a0001c0001t0003g0039 a0001c0001t0019g0047 a0001c0005t0002g0148	3	216	0.0139	27	c.-63 others(48): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCTTT CTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73137915	G G	GGGGAAGG others(20): Show GGGGAAGGGGAGGGGAAGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	216	0.0046	27	c.-64 others(48): Show c.-640+17381_-640+17407dupTTCCCCTTCCCTTCCCCTCCCCTT CCC	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01358.hp1 HG02027.hp1 others(10): Show HG01175.hp1 HG01358.hp1 HG02027.hp1 HG03688.hp2 HG04115.hp2 NA18943.hp2 NA18967.hp1 NA18969.hp1 NA18989.hp1 NA19011.hp2 NA19058.hp1 NA19065.hp1 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0020 a0003c0003t0003g0119 others(7): Show a0003c0003t0003g0003 a0003c0003t0003g0020 a0003c0003t0003g0119 a0003c0003t0003g0120 a0003c0003t0003g0121 a0003c0003t0003g0130 a0003c0003t0003g0134 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140	13	439	0.0296	27	c.-36 others(38): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20051133	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	250	0.0040	27	c.-22 others(46): Show c.-22+41716_-22+41717insTTTCTTCTTTCCTTCTTTCCTTCTTT C	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(20): Show ATTATTTTTTTTTTTATTTTTTTTATTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0139 a0001c0014t0002g0139	1	250	0.0040	27	c.284 others(44): Show c.284-9829_284-9828insATTTTTTTTTTTATTTTTTTTATTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(20): Show ATTATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG01517.hp1 others(1): Show HG00099.hp1 HG01256.hp1 HG01517.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0009t0105 a0001c0001t0002 a0001c0001t0006 a0001c0009t0105	a0001c0001t0002g0105 a0001c0001t0002g0169 a0001c0001t0006g0118 others(1): Show a0001c0001t0002g0105 a0001c0001t0002g0169 a0001c0001t0006g0118 a0001c0009t0105g0128	4	250	0.0160	27	c.284 others(44): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01517.hp1 others(3): Show HG01074.hp1 HG01099.hp1 HG01517.hp1 HG02055.hp2 HG02280.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0004 a0001c0001t0013 a0001c0001t0080 others(3): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0080 a0001c0001t0086 a0001c0008t0096 a0001c0009t0105	a0001c0001t0004g0172 a0001c0001t0013g0152 a0001c0001t0080g0199 others(3): Show a0001c0001t0004g0172 a0001c0001t0013g0152 a0001c0001t0080g0199 a0001c0001t0086g0159 a0001c0008t0096g0123 a0001c0009t0105g0128	6	250	0.0240	27	c.259 others(46): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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