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
SPAG16_chr2_213279464_214415501	213387431	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	86	0.0116	21	c.942 others(40): Show c.942+12321_942+12341dupTTTTTTTTTTTTTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213407830	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGGAGAGAGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03490.hp1 HG01891.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	2	86	0.0233	21	c.942 others(40): Show c.942+32722_942+32723insGGAGAGAGGCAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213407929	G G	GAGGAGAG others(14): Show GAGGAGAGAGGCAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19000.hp2 NA18992.hp1 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0043 a0003c0003t0001g0045	2	86	0.0233	21	c.942 others(40): Show c.942+32831_942+32851dupCAGGAGAGAGGCAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19000.hp2 HG02293.hp2 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0045 a0003c0003t0001g0031 a0003c0003t0001g0045	2	86	0.0233	21	c.107 others(44): Show c.1070+152739_1070+152759dupAAAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213859993	T T	TTGATGAT others(14): Show TTGATGATGATGATGATGATGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	86	0.0116	21	c.107 others(40): Show c.1071-2485_1071-2465dupTGATGATGATGATGATGATGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02280.hp2 HG02735.hp1 others(16): Show HG01081.hp1 HG02280.hp2 HG02735.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 NA18949.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA19001.hp1 NA19054.hp1 NA19085.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0008 a0001c0015 a0002c0005 others(1): Show a0001c0008 a0001c0015 a0002c0005 a0006c0011	a0001c0008t0002 a0001c0015t0001 a0002c0005t0001 others(2): Show a0001c0008t0002 a0001c0015t0001 a0002c0005t0001 a0002c0005t0002 a0006c0011t0002	a0001c0008t0002g0217 a0001c0015t0001g0224 a0001c0015t0001g0228 others(15): Show a0001c0008t0002g0217 a0001c0015t0001g0224 a0001c0015t0001g0228 a0002c0005t0001g0229 a0002c0005t0002g0089 a0002c0005t0002g0223 a0002c0005t0002g0225 a0002c0005t0002g0226 a0002c0005t0002g0227 a0002c0005t0002g0230 a0002c0005t0002g0231 a0002c0005t0002g0232 a0002c0005t0002g0233 a0002c0005t0002g0234 a0002c0005t0002g0253 a0002c0005t0002g0354 a0006c0011t0002g0003 a0006c0011t0002g0252	19	366	0.0519	21	c.300 others(38): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAGAAGAA others(14): Show AAGAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	21	c.-58 others(30): Show c.-580_-579insAGAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01243.hp2 others(8): Show HG00621.hp2 HG01074.hp1 HG01243.hp2 HG01261.hp1 HG02698.hp2 NA18951.hp2 NA18957.hp1 NA18962.hp2 NA19007.hp1 NA19079.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0021 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0146	11	330	0.0333	21	c.-18 others(32): Show c.-1805_-1804insATATATTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01993.hp2 HG02083.hp2 others(11): Show HG01243.hp1 HG01993.hp2 HG02083.hp2 HG02559.hp1 HG02602.hp2 HG04184.hp1 HG04199.hp1 NA18945.hp2 NA18956.hp1 NA18977.hp2 NA18989.hp1 NA18997.hp2 NA19060.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0140	14	330	0.0424	21	c.-18 others(32): Show c.-1805_-1804insATATATATTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	21	c.-18 others(32): Show c.-1805_-1804insATATATATATTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02818.hp2 HG02258.hp1 HG02486.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0110 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0110	3	330	0.0091	21	c.-18 others(32): Show c.-1805_-1804insATATATATATATTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	330	0.0030	21	c.-18 others(32): Show c.-1805_-1804insATATATATATATATATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51022943	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02809.hp2 HG01243.hp2 HG02258.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0007 a0002c0004t0016 a0002c0004t0005 a0002c0004t0007 a0002c0004t0016	a0002c0004t0005g0004 a0002c0004t0007g0009 a0002c0004t0016g0002 a0002c0004t0005g0004 a0002c0004t0007g0009 a0002c0004t0016g0002	3	292	0.0103	21	c.784 others(38): Show c.784-1599_784-1579dupATTATTATTATTATTATTATT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	6/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32089218	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	342	0.0029	21	c.503 others(36): Show c.503-304_503-303insTTTTTTTTTTTTTTTTTTTTC	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	2/16			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190347	A A	ATTATTAT others(14): Show ATTATTATATAACATATGATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01884.hp2 others(14): Show HG01106.hp1 HG01106.hp2 HG01884.hp2 HG01975.hp1 HG02040.hp1 HG02056.hp2 HG02148.hp1 HG02148.hp2 HG03239.hp2 HG03710.hp2 NA18942.hp1 NA18968.hp2 NA18979.hp2 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19065.hp2	a0001 a0017 a0018 a0001 a0017 a0018	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0017c0040 a0018c0044	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0061 a0001c0001t0112 a0001c0002t0001 a0001c0002t0008 a0001c0002t0013 a0001c0003t0097 a0001c0004t0012 a0001c0004t0014 a0001c0004t0038 a0001c0006t0014 a0001c0009t0007 a0017c0040t0009 a0018c0044t0019	a0001c0001t0002g0186 a0001c0001t0004g0135 a0001c0001t0006g0006 others(14): Show a0001c0001t0002g0186 a0001c0001t0004g0135 a0001c0001t0006g0006 a0001c0001t0061g0170 a0001c0001t0112g0223 a0001c0002t0001g0053 a0001c0002t0001g0066 a0001c0002t0008g0103 a0001c0002t0013g0182 a0001c0003t0097g0289 a0001c0004t0012g0254 a0001c0004t0014g0305 a0001c0004t0038g0108 a0001c0006t0014g0285 a0001c0009t0007g0117 a0017c0040t0009g0293 a0018c0044t0019g0110	17	356	0.0478	21	c.-11 others(42): Show c.-112+29415_-112+29416insTTATTATATAACATATGATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309306	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0106 a0001c0005t0106	a0001c0005t0106g0029 a0001c0005t0106g0029	1	356	0.0028	21	c.65 others(32): Show c.6533_*6534insATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2238		chr13	TogoVar
SPATA17_chr1_217626344_217876696	217770978	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00639.hp1 others(8): Show HG00558.hp1 HG00558.hp2 HG00639.hp1 HG01123.hp2 HG02738.hp2 HG03710.hp1 HG04204.hp1 NA18747.hp2 NA18949.hp2 NA18970.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016	a0001c0001t0001g0041 a0001c0001t0001g0124 a0001c0001t0001g0130 others(8): Show a0001c0001t0001g0041 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0216 a0001c0001t0003g0168 a0001c0001t0010g0156 a0001c0001t0016g0172	11	252	0.0437	21	c.520 others(38): Show c.520-3346_520-3326dupTTTTTTTTTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786749	C C	CCTTCTTC others(14): Show CCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	252	0.0040	21	c.872 others(38): Show c.872+4427_872+4428insCTTCTTCTTCTTCTTCTTCTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10			chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786750	T T	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 NA18942.hp2 others(5): Show HG00099.hp2 HG00738.hp1 NA18942.hp2 NA19012.hp1 NA19065.hp2 NA19085.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003	a0001c0001t0001g0009 a0001c0001t0002g0013 a0001c0002t0001g0114 others(5): Show a0001c0001t0001g0009 a0001c0001t0002g0013 a0001c0002t0001g0114 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0191 a0001c0002t0003g0109 a0001c0003t0003g0097	8	252	0.0318	21	c.872 others(38): Show c.872+4471_872+4491dupTTCTTCTTCTTCTTCTTCTTC	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3435327	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	420	0.0024	21	c.48 others(32): Show c.4819_*4820insAAAAAAAAAAAAAAAAAAAAA	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding		4691		chr17	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19081.hp2 NA18974.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0135 a0001c0001t0001g0108 a0001c0001t0001g0135	2	420	0.0048	21	c.329 others(38): Show c.329+3607_329+3627dupTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31D1_chr9_81983772_82000253	81997762	C C	CAAAAATA others(14): Show CAAAAATACAAAAGTACTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	21	c.25 others(32): Show c.2561_*2562insAAAAATACAAAAGTACTTATT	SPATA31D1	ENSG00000214929.4	transcript	ENST00000344803.3	protein_coding		2510		chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01167.hp1 HG01243.hp2 others(17): Show HG00673.hp1 HG01167.hp1 HG01243.hp2 HG01975.hp1 HG01981.hp2 HG02071.hp1 HG02165.hp2 HG02300.hp2 HG02895.hp1 HG02896.hp2 HG03831.hp1 HG06807.hp1 NA18957.hp2 NA18969.hp2 NA18980.hp2 NA18984.hp1 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0021	a0001c0001 a0001c0022 a0002c0002 others(3): Show a0001c0001 a0001c0022 a0002c0002 a0004c0004 a0012c0012 a0021c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0022t0001 a0002c0002t0001 a0004c0004t0001 a0012c0012t0014 a0021c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0002g0096 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0002g0096 a0001c0001t0005g0069 a0001c0022t0001g0005 a0002c0002t0001g0005 a0002c0002t0001g0083 a0004c0004t0001g0005 a0012c0012t0014g0005 a0021c0024t0001g0086	20	360	0.0556	21	c.293 others(34): Show c.293+45_293+65dupTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA45_chr1_212825141_212852649	212826759	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	402	0.0025	21	c.34 others(32): Show c.3482_*3483insTTTTTTTTTTTTTTTTTTTTT	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding		3381		chr1	TogoVar
SPATA6L_chr9_4593316_4671480	4600507	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0136 a0001c0001t0051g0136	1	408	0.0025	21	c.30 others(30): Show c.303_*304insTCTCTCTCTCTCTCTCTCTCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	12/12	3672		chr9	TogoVar
SPATA9_chr5_95653315_95687991	95685893	G G	GTGGCGCG others(14): Show GTGGCGCGATCTATGTACAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	380	0.0026	21	c.-30 others(32): Show c.-3040_-3039insGCTTGTACATAGATCGCGCCA	SPATA9	ENSG00000145757.16	transcript	ENST00000274432.13	protein_coding		2903		chr5	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0293 a0001c0001t0055g0293	1	300	0.0033	21	c.39+ others(36): Show c.39+6751_39+6752insAAAAAAAAAAAAATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03239.hp1 HG02572.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0233 a0001c0002t0006g0019 a0001c0001t0001g0233 a0001c0002t0006g0019	2	300	0.0067	21	c.39+ others(36): Show c.39+6751_39+6752insAAAAAAAAAAATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0222 a0005c0011t0001g0222	1	300	0.0033	21	c.39+ others(36): Show c.39+6751_39+6752insAAAAAAAAATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19056.hp1 NA19086.hp2 HG02886.hp1 NA19056.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0002c0004t0068 a0001c0001t0001 a0001c0001t0007 a0002c0004t0068	a0001c0001t0001g0216 a0001c0001t0007g0190 a0002c0004t0068g0002 a0001c0001t0001g0216 a0001c0001t0007g0190 a0002c0004t0068g0002	3	300	0.0100	21	c.39+ others(36): Show c.39+6751_39+6752insAAAAAAATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0087 a0001c0001t0017g0087	1	300	0.0033	21	c.39+ others(36): Show c.39+6751_39+6752insAAAAATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	ATATAAAT others(14): Show ATATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0019 a0002c0004t0019	a0002c0004t0019g0286 a0002c0004t0019g0286	1	300	0.0033	21	c.39+ others(36): Show c.39+6750_39+6751insTATAAATATATATATATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12			chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200417964	G G	GCAACTTC others(14): Show GCAACTTCCAAGATCAACAGAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0064 a0001c0001t0037g0064	1	300	0.0033	21	c.199 others(38): Show c.199-1282_199-1281insTTCCAAGATCAACAGAACAAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0017 a0003c0006t0017	a0003c0006t0017g0130 a0003c0006t0017g0130	1	300	0.0033	21	c.128 others(37): Show c.1282-118_1282-98dupAAAAAAAAAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 NA20129.hp1 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0186 a0001c0001t0152 a0001c0001t0186	a0001c0001t0152g0090 a0001c0001t0186g0158 a0001c0001t0152g0090 a0001c0001t0186g0158	2	438	0.0046	21	c.71 others(30): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	378	0.0027	21	c.114 others(38): Show c.114+6452_114+6453insTATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYC_chr11_65165233_65178374	65166391	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	21	c.-39 others(32): Show c.-3902_-3901insTTTTTTTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3841		chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(14): Show CTTTTTTTTCTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00733.hp1 others(15): Show HG00423.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01978.hp1 HG02015.hp1 HG02071.hp2 HG02602.hp1 HG02735.hp1 HG02897.hp2 HG03490.hp2 NA18951.hp2 NA18954.hp1 NA18977.hp2 NA18998.hp2 NA19070.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0001 a0001c0005t0013 a0002c0004t0001 a0001c0002t0001 a0001c0005t0013 a0002c0004t0001	a0001c0002t0001g0062 a0001c0002t0001g0072 a0001c0002t0001g0078 others(15): Show a0001c0002t0001g0062 a0001c0002t0001g0072 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0005t0013g0007 a0002c0004t0001g0169	18	216	0.0833	21	c.130 others(36): Show c.130+368_130+369insAAAAAAAAAGAAGAAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTGTTGT others(14): Show TTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0105	1	255	0.0039	21	c.380 others(36): Show c.380-266_380-265insCAACAACAACAACAACAACAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTGT others(14): Show TTTTTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18906.hp1 HG00140.hp2 NA18906.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0014 a0002c0002 a0011c0014	a0002c0002t0002 a0011c0014t0002 a0002c0002t0002 a0011c0014t0002	a0002c0002t0002g0107 a0011c0014t0002g0115 a0002c0002t0002g0107 a0011c0014t0002g0115	2	255	0.0078	21	c.380 others(36): Show c.380-266_380-265insCAACAACAACAACAACAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(14): Show TTTTTTTTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01168.hp1 others(7): Show HG00099.hp2 HG01081.hp1 HG01168.hp1 HG01255.hp2 HG01358.hp1 HG01993.hp1 HG02896.hp1 HG02897.hp1 HG04199.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0020 a0002c0002t0002 a0002c0002t0020	a0002c0002t0002g0008 a0002c0002t0002g0021 a0002c0002t0002g0055 others(4): Show a0002c0002t0002g0008 a0002c0002t0002g0021 a0002c0002t0002g0055 a0002c0002t0002g0106 a0002c0002t0002g0110 a0002c0002t0002g0114 a0002c0002t0020g0056	10	255	0.0392	21	c.380 others(36): Show c.380-266_380-265insCAACAACAACAACAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0108 a0002c0002t0002g0108	1	255	0.0039	21	c.380 others(36): Show c.380-266_380-265insCAACAACAACAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77031083	T T	TTACAAGA others(14): Show TTACAAGAGTGAGATTATCATG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	295	0.0034	21	c.-45 others(36): Show c.-453-81_-453-61dupCATGATAATCTCACTCTTGTA	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	1/7			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77060996	T T	TAAGAGTG others(14): Show TAAGAGTGAGAGTATCATGTAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(53): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02129.hp1 HG02273.hp2 HG02735.hp2 HG03491.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19077.hp1 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 others(39): Show a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0026g0063	56	416	0.1346	21	c.-42 others(36): Show c.-421-64_-421-63insGTACATGATACTCTCACTCTT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77060996	T T	TAAGAGTG others(14): Show TAAGAGTGAGATTATCATGTAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp2 HG03139.hp1 others(2): Show HG02451.hp1 HG02896.hp2 HG03139.hp1 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0019 a0001c0001t0017g0102 a0001c0001t0017g0103 a0001c0001t0016g0019 a0001c0001t0017g0102 a0001c0001t0017g0103	5	416	0.0120	21	c.-42 others(36): Show c.-421-84_-421-64dupGTACATGATAATCTCACTCTT	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE18_chr7_77045391_77067558	77061016	A A	ACAAGAGT others(14): Show ACAAGAGTGAGATTATCACGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01109.hp2 others(6): Show HG00099.hp1 HG00099.hp2 HG01109.hp2 HG01346.hp1 HG03834.hp2 NA18951.hp2 NA18981.hp1 NA19089.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0091 others(4): Show a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0091 a0001c0001t0007g0094 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0020g0095	9	416	0.0216	21	c.-42 others(36): Show c.-421-84_-421-83insCACGTGATAATCTCACTCTTG	SPDYE18	ENSG00000205482.11	transcript	ENST00000510091.4	protein_coding	1/8			chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43999396	T T	TCTCTTGT others(14): Show TCTCTTGTACATGATAATCTCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(68): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp2 NA18747.hp1 NA18946.hp1 NA18960.hp2 NA18971.hp1 NA18978.hp2 NA18986.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19054.hp2 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0009 a0010 a0012	a0001c0001 a0001c0007 a0001c0011 others(5): Show a0001c0001 a0001c0007 a0001c0011 a0003c0003 a0004c0005 a0009c0008 a0010c0017 a0012c0012	a0001c0001t0005 a0001c0001t0008 a0001c0007t0005 others(8): Show a0001c0001t0005 a0001c0001t0008 a0001c0007t0005 a0001c0011t0005 a0003c0003t0003 a0003c0003t0011 a0003c0003t0018 a0004c0005t0008 a0009c0008t0012 a0010c0017t0003 a0012c0012t0005	a0001c0001t0005g0006 a0001c0001t0005g0013 a0001c0001t0005g0019 others(42): Show a0001c0001t0005g0006 a0001c0001t0005g0013 a0001c0001t0005g0019 a0001c0001t0005g0031 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0008g0019 a0001c0001t0008g0076 a0001c0001t0008g0077 a0001c0001t0008g0078 a0001c0001t0008g0079 a0001c0007t0005g0073 a0001c0007t0005g0075 a0001c0011t0005g0013 a0003c0003t0003g0005 a0003c0003t0003g0010 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0111 a0003c0003t0011g0010 a0003c0003t0011g0030 a0003c0003t0018g0005 a0004c0005t0008g0020 a0004c0005t0008g0080 a0009c0008t0012g0072 a0009c0008t0012g0074 a0010c0017t0003g0005 a0012c0012t0005g0068	71	394	0.1802	21	c.-42 others(36): Show c.-422-84_-422-64dupGTACATGATAATCTCACTCTT	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278118	T T	TCTCTTGT others(14): Show TCTCTTGTACATGATAATCTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01257.hp2 HG01358.hp1 others(18): Show HG00642.hp1 HG01257.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG02080.hp2 HG02300.hp1 HG03017.hp2 HG03654.hp2 HG03831.hp1 NA18612.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18980.hp1 NA18994.hp1 NA19003.hp1 NA19067.hp1 NA19074.hp2 NA19081.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0033 a0001c0001t0006g0063 others(6): Show a0001c0001t0006g0011 a0001c0001t0006g0033 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0163	21	460	0.0457	21	c.-42 others(38): Show c.-422-167_-422-147dupTACATGATAATCTCACTCTTG	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278125	T T	TACATGAT others(14): Show TACATGATAATCTCACTCTTGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(99): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01943.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp2 HG03239.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0003 a0014 a0003 a0014	a0003c0003 a0014c0016 a0003c0003 a0014c0016	a0003c0003t0002 a0003c0003t0011 a0003c0003t0016 others(2): Show a0003c0003t0002 a0003c0003t0011 a0003c0003t0016 a0003c0003t0019 a0014c0016t0002	a0003c0003t0002g0002 a0003c0003t0002g0006 a0003c0003t0002g0016 others(43): Show a0003c0003t0002g0002 a0003c0003t0002g0006 a0003c0003t0002g0016 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0165 a0003c0003t0002g0167 a0003c0003t0002g0168 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0175 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0197 a0003c0003t0011g0016 a0003c0003t0011g0164 a0003c0003t0011g0196 a0003c0003t0016g0187 a0003c0003t0019g0006 a0014c0016t0002g0020	102	460	0.2217	21	c.-42 others(38): Show c.-422-146_-422-126dupCACATGATAATCTCACTCTTG	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102646923	G G	GGAAAGAA others(14): Show GGAAAGAAAGGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0024 a0004c0007t0024	a0004c0007t0024g0003 a0004c0007t0024g0003	1	128	0.0078	21	c.-38 others(32): Show c.-3876_-3875insGAAAGAAAGGAAAGAAAGAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3395		chr7	TogoVar

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