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
SOWAHC_chr2_109609364_109623990	109610095	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02280.hp2 HG00639.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	432	0.0046	29	c.-43 others(40): Show c.-4395_-4394insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding		4268		chr2	TogoVar
SOX5_chr12_23524504_23954670	23713696	A A	AATATATA others(22): Show AATATATATAAATATATATATATATCTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	212	0.0047	29	c.810 others(48): Show c.810+20959_810+20987dupAAAAGATATATATATATATTTATATA TAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837264	A A	ATATATAT others(22): Show ATATATATTTATATAATATATATTTATATT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0144 a0001c0001t0011g0144	1	212	0.0047	29	c.481 others(46): Show c.481+8718_481+8719insAATATAAATATATATTATATAAATATAT A	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02257.hp1 HG02572.hp2 others(6): Show HG01257.hp2 HG02257.hp1 HG02572.hp2 HG02809.hp1 HG03688.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0013 a0001c0001 a0002c0002 a0002c0013	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0002c0013t0001	a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0167 others(5): Show a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0002c0002t0001g0117 a0002c0002t0005g0009 a0002c0013t0001g0181	9	336	0.0268	29	c.108 others(46): Show c.108-2908_108-2907insAAAGAAAGAAAGAAAAGAAAGAAAGAAA G	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230359912	A A	ACTATACC others(22): Show ACTATACCAAACTAAAGTTTGGTATTGGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(32): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01167.hp1 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp2 HG03098.hp2 HG03669.hp2 HG04115.hp1 NA18939.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18964.hp2 NA18965.hp2 NA18978.hp1 NA18982.hp2 NA18994.hp2 NA19003.hp1 NA19058.hp2 NA19062.hp2 NA19240.hp2 NA20752.hp1	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0006 a0013	a0002c0024 a0002c0025 a0004c0005 others(5): Show a0002c0024 a0002c0025 a0004c0005 a0005c0007 a0005c0008 a0005c0026 a0006c0009 a0013c0023	a0002c0024t0001 a0002c0025t0001 a0004c0005t0001 others(5): Show a0002c0024t0001 a0002c0025t0001 a0004c0005t0001 a0005c0007t0002 a0005c0008t0001 a0005c0026t0002 a0006c0009t0001 a0013c0023t0001	a0002c0024t0001g0081 a0002c0025t0001g0085 a0004c0005t0001g0079 others(32): Show a0002c0024t0001g0081 a0002c0025t0001g0085 a0004c0005t0001g0079 a0004c0005t0001g0080 a0004c0005t0001g0084 a0004c0005t0001g0086 a0004c0005t0001g0087 a0004c0005t0001g0088 a0004c0005t0001g0092 a0004c0005t0001g0093 a0004c0005t0001g0094 a0004c0005t0001g0095 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0105 a0004c0005t0001g0111 a0004c0005t0001g0171 a0004c0005t0001g0172 a0005c0007t0002g0096 a0005c0007t0002g0100 a0005c0007t0002g0106 a0005c0007t0002g0107 a0005c0007t0002g0109 a0005c0007t0002g0110 a0005c0008t0001g0083 a0005c0008t0001g0089 a0005c0008t0001g0097 a0005c0008t0001g0102 a0005c0026t0002g0101 a0006c0009t0001g0090 a0006c0009t0001g0103 a0006c0009t0001g0104 a0006c0009t0001g0112 a0006c0009t0001g0173 a0013c0023t0001g0091	35	336	0.1042	29	c.439 others(44): Show c.439+790_439+791insCTAAAGTTTGGTATTGGTGCTATACCAAA	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230359923	T T	TTAAAGTT others(22): Show TTAAAGTTTGGTATTGGTGCTATACCAAAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	336	0.0030	29	c.439 others(44): Show c.439+829_439+857dupGGTATTGGTGCTATACCAAACTAAAGTTT	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230242339	A A	AGACAACT others(22): Show AGACAACTGGAGGGATGGTTTGGAGGGATT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	370	0.0027	29	c.490 others(44): Show c.490+853_490+854insACAACTGGAGGGATGGTTTGGAGGGATTG	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	29	c.-42 others(40): Show c.-4275_-4274insAAAAAATATATATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	205	0.0049	29	c.23 others(40): Show c.2382_*2410dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213574659	G G	GATATATG others(22): Show GATATATGATATATATATGATATATGATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20129.hp2 HG02976.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0001g0002 a0001c0001t0002g0001	2	86	0.0233	29	c.107 others(50): Show c.1070+84583_1070+84611dupATATGATATATGATATATATATGA TATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833539	A A	ATATAATA others(22): Show ATATAATATATATAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	86	0.0116	29	c.107 others(50): Show c.1071-28946_1071-28945insTATAATATATATAATATATAATAT ATATT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869265	A A	AATATATA others(22): Show AATATATATATATATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03239.hp2 HG02647.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0048 a0001c0001t0001g0066	2	86	0.0233	29	c.121 others(48): Show c.1214+6637_1214+6638insATATATATATATATATATATATATAC ACG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG03098.hp1 others(4): Show HG02055.hp2 HG02717.hp2 HG03098.hp1 NA18952.hp2 NA19068.hp2 NA19088.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0003 a0002c0001 a0004c0006 others(1): Show a0001c0003 a0002c0001 a0004c0006 a0010c0023	a0001c0003t0001 a0002c0001t0001 a0004c0006t0001 others(1): Show a0001c0003t0001 a0002c0001t0001 a0004c0006t0001 a0010c0023t0001	a0001c0003t0001g0260 a0002c0001t0001g0007 a0002c0001t0001g0008 others(4): Show a0001c0003t0001g0260 a0002c0001t0001g0007 a0002c0001t0001g0008 a0004c0006t0001g0065 a0004c0006t0001g0066 a0004c0006t0001g0067 a0010c0023t0001g0080	7	366	0.0191	29	c.300 others(46): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	330	0.0030	29	c.-18 others(40): Show c.-1805_-1804insATATATATATATATTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02717.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0068 a0001c0001t0001g0107	2	330	0.0061	29	c.-18 others(40): Show c.-1805_-1804insATATATATATATATATATATTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02615.hp2 others(1): Show HG02145.hp1 HG02145.hp2 HG02615.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0086 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0086	4	330	0.0121	29	c.-18 others(40): Show c.-1805_-1804insATATATATATATATATATATATTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01175.hp2 others(7): Show HG01168.hp1 HG01169.hp1 HG01175.hp2 HG03239.hp1 NA18955.hp1 NA18973.hp2 NA19060.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0202 a0001c0001t0001g0219 a0001c0001t0001g0220 others(7): Show a0001c0001t0001g0202 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0290 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0003g0265 a0001c0005t0001g0264	10	292	0.0343	29	c.741 others(46): Show c.741+3809_741+3810insTATATATATATATATATATATATATATA T	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPANXA1_chrX_141578674_141589738	141579059	T T	TCCTCCCT others(22): Show TCCTCCCTTCCTCCCTCCCTCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0022 a0008c0007t0004g0022	1	157	0.0064	29	c.46 others(40): Show c.4678_*4679insGGAGGGAGGGAGGGAGGGAGGAAGGGAGG	SPANXA1	ENSG00000198021.8	transcript	ENST00000370519.4	protein_coding		4614		chrX	TogoVar
SPATA13_chr13_24155720_24312069	24237886	T T	TAATATAT others(22): Show TAATATATAAACATACATGTTTAAATATGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp1 others(33): Show HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG01975.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0006 others(7): Show a0001 a0002 a0006 a0009 a0010 a0011 a0012 a0020 a0021 a0022	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0001c0047 a0002c0007 a0002c0008 a0002c0025 a0006c0023 a0009c0045 a0010c0020 a0011c0019 a0012c0022 a0020c0036 a0021c0034 a0022c0049	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(31): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0002t0085 a0001c0003t0004 a0001c0003t0005 a0001c0003t0016 a0001c0003t0045 a0001c0005t0003 a0001c0005t0005 a0001c0005t0046 a0001c0005t0064 a0001c0006t0049 a0001c0006t0077 a0001c0006t0089 a0001c0013t0128 a0001c0047t0008 a0002c0007t0018 a0002c0007t0090 a0002c0007t0118 a0002c0008t0015 a0002c0008t0056 a0002c0008t0059 a0002c0008t0099 a0002c0008t0109 a0002c0025t0016 a0006c0023t0006 a0009c0045t0092 a0010c0020t0101 a0011c0019t0105 a0012c0022t0131 a0020c0036t0021 a0021c0034t0040 a0022c0049t0016	a0001c0001t0002g0164 a0001c0001t0011g0290 a0001c0001t0015g0250 others(33): Show a0001c0001t0002g0164 a0001c0001t0011g0290 a0001c0001t0015g0250 a0001c0001t0015g0347 a0001c0002t0085g0020 a0001c0003t0004g0189 a0001c0003t0005g0144 a0001c0003t0016g0092 a0001c0003t0045g0008 a0001c0003t0045g0009 a0001c0005t0003g0002 a0001c0005t0005g0060 a0001c0005t0046g0216 a0001c0005t0064g0121 a0001c0006t0049g0017 a0001c0006t0077g0156 a0001c0006t0089g0037 a0001c0013t0128g0120 a0001c0047t0008g0131 a0002c0007t0018g0016 a0002c0007t0090g0057 a0002c0007t0118g0283 a0002c0008t0015g0198 a0002c0008t0056g0116 a0002c0008t0059g0199 a0002c0008t0099g0340 a0002c0008t0109g0031 a0002c0025t0016g0337 a0006c0023t0006g0007 a0009c0045t0092g0071 a0010c0020t0101g0025 a0011c0019t0105g0026 a0012c0022t0131g0003 a0020c0036t0021g0072 a0021c0034t0040g0342 a0022c0049t0016g0051	36	356	0.1011	29	c.165 others(50): Show c.1654-11519_1654-11491dupACATGTTTAAATATGCAATATATA AACAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA16_chr3_172884357_173146235	173069112	G G	GAAGAAAA others(22): Show GAAGAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	200	0.0050	29	c.613 others(48): Show c.613-20019_613-20018insTTTTTTTTTTTTTTTTTTTTTTTTTT CTT	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217705338	T T	TGCATCTA others(22): Show TGCATCTATGTCAGATGCATAGATGCAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01099.hp1 others(4): Show HG00323.hp2 HG01074.hp1 HG01099.hp1 HG01433.hp1 HG01981.hp1 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0209 a0001c0001t0006g0096 a0001c0001t0006g0201 others(4): Show a0001c0001t0001g0209 a0001c0001t0006g0096 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205	7	252	0.0278	29	c.395 others(48): Show c.395+21977_395+21978insGCATCTATGTCAGATGCATAGATGCA AAA	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10			chr1	TogoVar
SPATA31A1_chr9_39350669_39366962	39365574	A A	AGGAACCC others(22): Show AGGAACCCTGGGACACCCAGATACTGTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(410): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043	a0001c0001 a0001c0003 a0001c0005 others(58): Show a0001c0001 a0001c0003 a0001c0005 a0001c0021 a0001c0023 a0001c0025 a0001c0041 a0001c0044 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0002c0002 a0002c0007 a0002c0018 a0002c0039 a0002c0063 a0003c0004 a0003c0009 a0003c0024 a0004c0006 a0005c0008 a0007c0011 a0009c0022 a0009c0062 a0010c0027 a0010c0028 a0011c0013 a0012c0056 a0012c0057 a0013c0034 a0013c0052 a0014c0020 a0015c0015 a0016c0014 a0017c0016 a0018c0019 a0019c0017 a0020c0064 a0021c0026 a0022c0055 a0023c0054 a0024c0053 a0025c0035 a0026c0049 a0027c0042 a0028c0047 a0029c0033 a0031c0032 a0032c0046 a0033c0031 a0034c0043 a0035c0048 a0036c0036 a0037c0050 a0038c0040 a0039c0038 a0040c0037 a0041c0051 a0042c0030 a0043c0029	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(65): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0005t0002 a0001c0021t0002 a0001c0023t0001 a0001c0025t0001 a0001c0041t0002 a0001c0044t0002 a0001c0058t0001 a0001c0059t0001 a0001c0060t0002 a0001c0061t0002 a0002c0002t0001 a0002c0007t0001 a0002c0018t0002 a0002c0039t0001 a0002c0063t0001 a0003c0004t0001 a0003c0004t0002 a0003c0009t0001 a0003c0024t0001 a0004c0006t0001 a0005c0008t0001 a0007c0011t0002 a0009c0022t0002 a0009c0062t0001 a0010c0027t0001 a0010c0028t0002 a0011c0013t0001 a0012c0056t0003 a0012c0057t0003 a0013c0034t0002 a0013c0052t0002 a0014c0020t0002 a0015c0015t0001 a0016c0014t0001 a0017c0016t0001 a0018c0019t0001 a0018c0019t0004 a0019c0017t0001 a0020c0064t0001 a0021c0026t0009 a0022c0055t0002 a0023c0054t0002 a0024c0053t0001 a0025c0035t0002 a0026c0049t0001 a0027c0042t0007 a0028c0047t0002 a0029c0033t0001 a0031c0032t0001 a0032c0046t0001 a0033c0031t0001 a0034c0043t0002 a0035c0048t0001 a0036c0036t0001 a0037c0050t0002 a0038c0040t0001 a0039c0038t0001 a0040c0037t0001 a0041c0051t0002 a0042c0030t0001 a0043c0029t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0004g0072 a0001c0001t0006g0001 a0001c0001t0008g0001 a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0060 a0001c0003t0001g0066 a0001c0003t0001g0076 a0001c0003t0002g0001 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0008 a0001c0003t0002g0010 a0001c0003t0002g0013 a0001c0003t0002g0016 a0001c0003t0002g0024 a0001c0003t0002g0027 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0048 a0001c0003t0002g0050 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0061 a0001c0003t0002g0068 a0001c0003t0002g0071 a0001c0003t0002g0080 a0001c0003t0005g0073 a0001c0003t0005g0074 a0001c0005t0002g0006 a0001c0005t0002g0009 a0001c0005t0002g0010 a0001c0005t0002g0023 a0001c0021t0002g0020 a0001c0023t0001g0001 a0001c0025t0001g0001 a0001c0041t0002g0029 a0001c0044t0002g0005 a0001c0058t0001g0001 a0001c0059t0001g0001 a0001c0060t0002g0013 a0001c0061t0002g0069 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0078 a0002c0007t0001g0018 a0002c0007t0001g0028 a0002c0007t0001g0043 a0002c0007t0001g0067 a0002c0018t0002g0006 a0002c0018t0002g0009 a0002c0039t0001g0001 a0002c0063t0001g0001 a0003c0004t0001g0002 a0003c0004t0001g0012 a0003c0004t0001g0036 a0003c0004t0001g0038 a0003c0004t0001g0040 a0003c0004t0002g0010 a0003c0004t0002g0079 a0003c0009t0001g0002 a0003c0024t0001g0002 a0004c0006t0001g0003 a0005c0008t0001g0002 a0005c0008t0001g0012 a0007c0011t0002g0019 a0007c0011t0002g0077 a0009c0022t0002g0045 a0009c0022t0002g0046 a0009c0062t0001g0001 a0010c0027t0001g0001 a0010c0028t0002g0041 a0011c0013t0001g0011 a0011c0013t0001g0026 a0012c0056t0003g0022 a0012c0057t0003g0022 a0013c0034t0002g0024 a0013c0052t0002g0009 a0014c0020t0002g0012 a0014c0020t0002g0042 a0015c0015t0001g0021 a0016c0014t0001g0007 a0017c0016t0001g0001 a0018c0019t0001g0013 a0018c0019t0004g0001 a0019c0017t0001g0004 a0019c0017t0001g0005 a0020c0064t0001g0001 a0021c0026t0009g0011 a0022c0055t0002g0039 a0023c0054t0002g0044 a0024c0053t0001g0001 a0025c0035t0002g0051 a0026c0049t0001g0037 a0027c0042t0007g0052 a0028c0047t0002g0049 a0029c0033t0001g0001 a0031c0032t0001g0001 a0032c0046t0001g0029 a0033c0031t0001g0001 a0034c0043t0002g0016 a0035c0048t0001g0002 a0036c0036t0001g0002 a0037c0050t0002g0006 a0038c0040t0001g0001 a0039c0038t0001g0001 a0040c0037t0001g0002 a0041c0051t0002g0030 a0042c0030t0001g0005 a0043c0029t0001g0002	413	424	0.9741	29	c.37 others(40): Show c.3765_*3766insGGAACCCTGGGACACCCAGATACTGTCAG	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding		3613		chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00673.hp2 others(7): Show HG00423.hp1 HG00609.hp2 HG00673.hp2 HG01175.hp2 HG02451.hp2 HG03704.hp2 HG04184.hp2 NA18961.hp2 NA19009.hp2 NA19056.hp2	a0001 a0005 a0023 a0001 a0005 a0023	a0001c0001 a0005c0006 a0023c0035 a0001c0001 a0005c0006 a0023c0035	a0001c0001t0001 a0001c0001t0006 a0005c0006t0024 others(1): Show a0001c0001t0001 a0001c0001t0006 a0005c0006t0024 a0023c0035t0006	a0001c0001t0001g0010 a0001c0001t0001g0091 a0001c0001t0006g0010 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0091 a0001c0001t0006g0010 a0005c0006t0024g0051 a0023c0035t0006g0010	10	360	0.0278	29	c.293 others(42): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA4_chr4_176179579_176200585	176192559	T T	TTTCTTTT others(22): Show TTTCTTTTTCTAATTTTCCTTTTCTATTTA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	456	0.0022	29	c.688 others(42): Show c.688+67_688+68insTAAATAGAAAAGGAAAATTAGAAAAAGAA	SPATA4	ENSG00000150628.7	transcript	ENST00000280191.7	protein_coding	4/5			chr4	TogoVar
SPATA5_chr4_122918078_123324433	123095042	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	1	262	0.0038	29	c.234 others(48): Show c.2340+4337_2340+4338insTATATATATATATATATATATATATA TAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15			chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4600507	G G	GAGAGAGA others(22): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0246 a0001c0001t0049g0246	1	408	0.0025	29	c.30 others(38): Show c.303_*304insTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	12/12	3672		chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0141 a0001c0002t0030g0141	1	300	0.0033	29	c.39+ others(44): Show c.39+6751_39+6752insAAAAAAAAAAAAAAATATATATATATATA	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(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0207 a0001c0001t0023g0207	1	300	0.0033	29	c.39+ others(44): Show c.39+6751_39+6752insAAAAAAAAATATATATATATATATATATA	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(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	300	0.0033	29	c.39+ others(44): Show c.39+6751_39+6752insAAAAAAATATATATATATATATATATATA	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(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0297 a0001c0001t0015g0297	1	300	0.0033	29	c.39+ others(44): Show c.39+6751_39+6752insAAAAATATATATATATATATATATATATA	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(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02896.hp2 HG04204.hp1 HG02129.hp2 HG02896.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0190 a0001c0001t0192 a0001c0001t0099 a0001c0001t0190 a0001c0001t0192	a0001c0001t0099g0225 a0001c0001t0190g0173 a0001c0001t0192g0167 a0001c0001t0099g0225 a0001c0001t0190g0173 a0001c0001t0192g0167	3	438	0.0069	29	c.71 others(38): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	378	0.0027	29	c.114 others(46): Show c.114+6452_114+6453insTATATATATATATATATATATATATATA T	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYE2_chr7_102546226_102568538	102547820	A A	AAAGAAAG others(22): Show AAAGAAAGAGAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0069 a0005c0004t0004g0069	1	164	0.0061	29	c.-38 others(40): Show c.-3890_-3889insAAGAAAGAGAAGGAAAGAAAGAAAGAAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3405		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102562990	T T	TTTTATTT others(22): Show TTTTATTTATTTAAATATTTATTAAATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0076 a0003c0003t0016g0076	1	164	0.0061	29	c.99 others(39): Show c.999_*1027dupTATTAAATATATTTATTTATTTAAATATT	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	9/9	1863	INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102346240	T T	TAATATTT others(22): Show TAATATTTAAATAAATAAATATATTTAATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(101): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01256.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA20905.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0008 a0011 a0019	a0001c0001 a0003c0003 a0003c0027 others(5): Show a0001c0001 a0003c0003 a0003c0027 a0004c0005 a0007c0011 a0008c0010 a0011c0015 a0019c0028	a0001c0001t0024 a0003c0003t0003 a0003c0003t0015 others(6): Show a0001c0001t0024 a0003c0003t0003 a0003c0003t0015 a0003c0027t0003 a0004c0005t0003 a0007c0011t0003 a0008c0010t0003 a0011c0015t0003 a0019c0028t0003	a0001c0001t0024g0232 a0003c0003t0003g0003 a0003c0003t0003g0004 others(64): Show a0001c0001t0024g0232 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0115 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0118 a0003c0003t0003g0119 a0003c0003t0003g0120 a0003c0003t0003g0121 a0003c0003t0003g0122 a0003c0003t0003g0123 a0003c0003t0003g0126 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0015g0124 a0003c0027t0003g0125 a0004c0005t0003g0036 a0004c0005t0003g0142 a0004c0005t0003g0143 a0004c0005t0003g0144 a0004c0005t0003g0145 a0004c0005t0003g0146 a0004c0005t0003g0147 a0004c0005t0003g0148 a0004c0005t0003g0149 a0004c0005t0003g0150 a0004c0005t0003g0151 a0004c0005t0003g0152 a0004c0005t0003g0153 a0004c0005t0003g0154 a0004c0005t0003g0158 a0004c0005t0003g0159 a0004c0005t0003g0160 a0007c0011t0003g0155 a0007c0011t0003g0156 a0007c0011t0003g0157 a0007c0011t0003g0161 a0008c0010t0003g0109 a0008c0010t0003g0110 a0008c0010t0003g0111 a0008c0010t0003g0113 a0011c0015t0003g0112 a0011c0015t0003g0114 a0019c0028t0003g0127	104	439	0.2369	29	c.99 others(39): Show c.998_*1026dupTATTAAATATATTTATTTATTTAAATATT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding	8/8	1861		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(22): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02074.hp1 HG02523.hp2 others(10): Show HG00099.hp2 HG02074.hp1 HG02523.hp2 NA18961.hp1 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA19002.hp1 NA19002.hp2 NA19056.hp2 NA19066.hp1 NA19067.hp2 NA19081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0015 a0003c0003t0003 a0003c0003t0015	a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0032 others(4): Show a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0032 a0003c0003t0003g0115 a0003c0003t0003g0118 a0003c0003t0003g0135 a0003c0003t0015g0124	13	439	0.0296	29	c.-36 others(40): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0023 a0004c0005t0023	a0004c0005t0023g0234 a0004c0005t0023g0234	1	250	0.0040	29	c.-22 others(48): Show c.-22+12279_-22+12280insATATATATATATATATATATATTTTT TTT	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(22): Show ATTATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18984.hp1 HG00323.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0182 a0001c0001t0004g0166 a0001c0001t0002g0182 a0001c0001t0004g0166	2	250	0.0080	29	c.284 others(46): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTTTTTTTT T	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(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0108 a0001c0001t0015g0108	1	250	0.0040	29	c.259 others(48): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35661267	T T	TATATATA others(22): Show TATATATATATATATATATATATATTATAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	268	0.0037	29	c.116 others(48): Show c.1167+2084_1167+2085insTATACATATATATATATATATATATA TAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	304	0.0033	29	c.882 others(46): Show c.882-4844_882-4843insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPG7_chr16_89503403_89562766	89536195	T T	TCTCTGGT others(22): Show TCTCTGGTGCTGTGTGGCCTTCAGTGTGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01256.hp1 others(6): Show HG00639.hp1 HG01069.hp2 HG01256.hp1 HG01433.hp2 HG02145.hp2 HG02976.hp1 HG03209.hp2 HG03540.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0047 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0133 a0001c0001t0001g0214	9	358	0.0251	29	c.132 others(48): Show c.1324+3564_1324+3592dupGGTGCTGTGTGGCCTTCAGTGTGGCC TCT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPI1_chr11_47349860_47383547	47381507	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA19043.hp2 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0011 a0001c0001t0001g0095	2	390	0.0051	29	c.-31 others(40): Show c.-3155_-3154insATATATATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2961		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480931	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG03471.hp1 others(1): Show HG02451.hp1 HG03041.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0003 a0001c0012t0017 a0001c0002t0003 a0001c0012t0017	a0001c0002t0003g0248 a0001c0002t0003g0255 a0001c0012t0017g0315 others(1): Show a0001c0002t0003g0248 a0001c0002t0003g0255 a0001c0012t0017g0315 a0001c0012t0017g0316	4	364	0.0110	29	c.611 others(46): Show c.611+8013_611+8014insCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	216	0.0046	29	c.109 others(50): Show c.1098-29818_1098-29817insATATATATATATATATATATATAT ATTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK5_chr5_148058980_148142382	148123414	T T	TTATATAT others(22): Show TTATATATAGATAGATATTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	384	0.0026	29	c.253 others(46): Show c.2539-411_2539-410insGATAGATATTATCTATCTATCTATATAT A	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	400	0.0025	29	c.391 others(44): Show c.391+294_391+322dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12461562	T T	TGGTATGT others(22): Show TGGTATGTACGTACATATGTACGTACATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02622.hp2 others(5): Show HG02145.hp2 HG02257.hp1 HG02622.hp2 HG02809.hp1 HG03098.hp1 NA18522.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0172 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0083 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259	8	328	0.0244	29	c.163 others(48): Show c.1638+1788_1638+1789insGTATGTACGTACATATGTACGTACAT ACC	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	328	0.0031	29	c.372 others(48): Show c.372+19716_372+19717insATATATATATTTTTTTTTTTTTTTTT TTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02965.hp1 HG02602.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0006g0027 a0001c0002t0003g0266 a0001c0001t0006g0027 a0001c0002t0003g0266	2	328	0.0061	29	c.372 others(48): Show c.372+19716_372+19717insATATATATATATATATTTTTTTTTTT TTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar

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