Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAATAT others(6): Show AAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG02615.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	191	0.0105	13	c.-42 others(24): Show c.-4275_-4274insAAAATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAATATAT others(6): Show AAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01175.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG01175.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	193	0.0207	13	c.-42 others(24): Show c.-4275_-4274insAATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	190	0.0053	13	c.-42 others(24): Show c.-4275_-4274insTATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135282	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	13	c.27 others(24): Show c.2753_*2754insTTTCTTTCTTTCT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2663		chrX	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG02809.hp1 HG01515.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0099 a0001c0001t0001g0003 a0001c0001t0001g0099	2	5	0.4000	13	c.23 others(24): Show c.2380_*2381insTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02135.hp2 NA18962.hp2 HG00597.hp2 HG02135.hp2 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0023 a0002c0002t0001g0001 a0002c0002t0001g0096 a0001c0001t0001g0023 a0002c0002t0001g0001 a0002c0002t0001g0096	3	8	0.3750	13	c.23 others(24): Show c.2398_*2410dupTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213292663	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp2 NA20129.hp2 HG02976.hp1 HG03195.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0002g0004 a0002c0002t0001g0011 a0001c0001t0001g0003 a0001c0001t0002g0004 a0002c0002t0001g0011	3	67	0.0448	13	c.137 others(30): Show c.137-3389_137-3388insAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	54	0.0185	13	c.107 others(36): Show c.1070+152747_1070+152759dupAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213643767	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0084 a0009c0008t0001g0084	1	36	0.0278	13	c.107 others(36): Show c.1070+153694_1070+153706dupTTTTTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833473	A A	ATAATAAT others(6): Show ATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20129.hp2 HG02976.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0001g0003 a0001c0001t0002g0004	2	60	0.0333	13	c.107 others(34): Show c.1071-29012_1071-29011insTAATAATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833539	A A	ATAATATA others(6): Show ATAATATATATAAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	49	0.0204	13	c.107 others(34): Show c.1071-28946_1071-28945insTAATATATATAAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833548	A A	ATTATATA others(6): Show ATTATATATATTAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0034 a0003c0003t0001g0034	1	64	0.0156	13	c.107 others(34): Show c.1071-28937_1071-28936insTTATATATATTAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213859178	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	39	0.0256	13	c.107 others(32): Show c.1071-3281_1071-3269dupAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214012288	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	34	0.0294	13	c.140 others(32): Show c.1401-1662_1401-1661insATATTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214012288	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19043.hp1 HG02717.hp1 NA19043.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0001 a0006c0006t0001 a0003c0003t0001 a0006c0006t0001	a0003c0003t0001g0080 a0006c0006t0001g0024 a0003c0003t0001g0080 a0006c0006t0001g0024	2	35	0.0571	13	c.140 others(32): Show c.1401-1654_1401-1642dupTTTTTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214108480	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0017 a0005c0005t0001g0017	1	76	0.0132	13	c.159 others(30): Show c.1593+219_1593+220insACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15			chr2	TogoVar
SPAG17_chr1_117948590_118190228	118062366	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02145.hp2 others(8): Show HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG03139.hp1 HG06807.hp1 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0004 a0001c0025 a0008c0017 others(1): Show a0001c0004 a0001c0025 a0008c0017 a0008c0033	a0001c0004t0001 a0001c0025t0001 a0008c0017t0001 others(1): Show a0001c0004t0001 a0001c0025t0001 a0008c0017t0001 a0008c0033t0001	a0001c0004t0001g0147 a0001c0004t0001g0149 a0001c0004t0001g0211 others(8): Show a0001c0004t0001g0147 a0001c0004t0001g0149 a0001c0004t0001g0211 a0001c0004t0001g0250 a0001c0004t0001g0257 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0025t0001g0063 a0008c0017t0001g0015 a0008c0017t0001g0016 a0008c0033t0001g0014	11	99	0.1111	13	c.254 others(32): Show c.2540+4366_2540+4378dupTTTTTTTTTTTTT	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	18/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118069344	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01109.hp1 others(44): Show HG00621.hp2 HG00735.hp2 HG01109.hp1 HG01346.hp1 HG01934.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG03139.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18963.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18988.hp1 NA18992.hp1 NA19005.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1	a0002 a0008 a0019 others(2): Show a0002 a0008 a0019 a0021 a0025	a0002c0002 a0002c0008 a0008c0017 others(4): Show a0002c0002 a0002c0008 a0008c0017 a0008c0033 a0019c0022 a0021c0023 a0025c0031	a0002c0002t0001 a0002c0008t0001 a0008c0017t0001 others(4): Show a0002c0002t0001 a0002c0008t0001 a0008c0017t0001 a0008c0033t0001 a0019c0022t0001 a0021c0023t0001 a0025c0031t0002	a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 others(44): Show a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0069 a0002c0002t0001g0263 a0002c0008t0001g0047 a0002c0008t0001g0048 a0002c0008t0001g0049 a0008c0017t0001g0015 a0008c0017t0001g0016 a0008c0033t0001g0014 a0019c0022t0001g0038 a0021c0023t0001g0068 a0025c0031t0002g0007	47	150	0.3133	13	c.238 others(32): Show c.2386-2458_2386-2446dupTTTTTTTTTTTTT	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	17/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118111592	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0119 a0003c0003t0001g0119	1	262	0.0038	13	c.447 others(30): Show c.447+3717_447+3718insGTGTGTGTGTGTG	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	4/48			chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615420	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	313	0.0032	13	c.-58 others(22): Show c.-584_-583insGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		408		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	13	c.-58 others(22): Show c.-580_-579insAAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	13	c.-58 others(22): Show c.-580_-579insGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG9_chr17_50957174_51125868	51053854	A A	AAGTATAT others(6): Show AAGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02897.hp1 HG02148.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0151 a0001c0001t0013g0183 a0001c0001t0001g0151 a0001c0001t0013g0183	2	239	0.0084	13	c.495 others(30): Show c.495+2557_495+2558insATATATATATACT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51089620	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	184	0.0054	13	c.304 others(30): Show c.304-9917_304-9916insTATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAM1_chr7_123920241_123965046	123929895	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG03098.hp2 HG01175.hp2 HG02055.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0167 a0001c0001t0001g0302 a0001c0001t0001g0303	3	329	0.0091	13	c.-31 others(32): Show c.-319+4551_-319+4563dupTTTTTTTTTTTTT	SPAM1	ENSG00000106304.16	transcript	ENST00000682466.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPARC_chr5_151656096_151691915	151680216	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0139 a0001c0001t0006g0139	1	119	0.0084	13	c.-13 others(30): Show c.-13-4028_-13-4016dupAAAAAAAAAAAAA	SPARC	ENSG00000113140.11	transcript	ENST00000231061.9	protein_coding	1/9			chr5	TogoVar
SPARC_chr5_151656096_151691915	151689071	G G	GAGAGGCC others(6): Show GAGAGGCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01167.hp1 HG01169.hp2 others(13): Show HG00408.hp2 HG01167.hp1 HG01169.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG03579.hp1 HG03834.hp1 NA18522.hp2 NA18939.hp2 NA18943.hp2 NA18970.hp2 NA18983.hp2 NA19030.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0023 a0001c0002t0004 a0001c0002t0013	a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0001g0290 others(10): Show a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0003g0070 a0001c0001t0005g0301 a0001c0001t0023g0245 a0001c0002t0004g0001 a0001c0002t0004g0012 a0001c0002t0004g0272 a0001c0002t0013g0056 a0001c0002t0013g0329	16	437	0.0366	13	c.-22 others(24): Show c.-2221_-2220insAGGGAGGGCCTCT	SPARC	ENSG00000113140.11	transcript	ENST00000231061.9	protein_coding		2157		chr5	TogoVar
SPAST_chr2_32058556_32162637	32081781	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00741.hp2 others(22): Show HG00408.hp1 HG00609.hp2 HG00741.hp2 HG01175.hp2 HG01975.hp1 HG02129.hp1 HG02148.hp2 HG02258.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03669.hp2 HG03710.hp2 HG04199.hp2 NA18950.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA19056.hp1 NA19057.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0096 others(22): Show a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0007g0165 a0001c0001t0017g0169 a0001c0001t0018g0114	25	148	0.1689	13	c.416 others(30): Show c.416-5700_416-5688dupAAAAAAAAAAAAA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083764	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	299	0.0033	13	c.416 others(30): Show c.416-3727_416-3726insTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083766	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18980.hp1 HG03710.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0138 a0001c0001t0001g0157	2	287	0.0070	13	c.416 others(30): Show c.416-3725_416-3724insTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083768	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	278	0.0036	13	c.416 others(30): Show c.416-3723_416-3722insTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083770	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18982.hp1 NA18612.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0125 a0001c0001t0001g0132	2	253	0.0079	13	c.416 others(30): Show c.416-3721_416-3720insTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083772	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19079.hp2 HG02723.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0136 a0001c0001t0001g0105 a0001c0001t0001g0136	2	233	0.0086	13	c.416 others(30): Show c.416-3719_416-3718insTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083774	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19076.hp1 NA18970.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0174 a0001c0001t0003g0073 a0001c0001t0001g0174 a0001c0001t0003g0073	2	196	0.0102	13	c.416 others(30): Show c.416-3717_416-3716insTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32089218	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00738.hp2 others(27): Show HG00140.hp1 HG00423.hp2 HG00738.hp2 HG01123.hp2 HG01433.hp2 HG01928.hp1 HG02040.hp2 HG02698.hp2 HG03669.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18955.hp1 NA18960.hp1 NA18963.hp2 NA18967.hp2 NA18975.hp2 NA18984.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp2 NA19057.hp2 NA19063.hp2 NA19068.hp2 NA19076.hp1 NA19079.hp2 NA19082.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 others(27): Show a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0342 a0001c0001t0003g0073	30	190	0.1579	13	c.503 others(28): Show c.503-304_503-303insTTTTTTTTTTTTC	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	2/16			chr2	TogoVar
SPATA16_chr3_172884357_173146235	173001268	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02572.hp2 others(22): Show HG01109.hp1 HG02145.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0004c0006t0001 a0005c0009t0002	a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0085 others(22): Show a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0004g0200 a0002c0002t0001g0010 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0110 a0002c0002t0001g0126 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0196 a0002c0005t0001g0063 a0002c0005t0001g0148 a0003c0003t0001g0096 a0004c0006t0001g0101 a0004c0006t0001g0176 a0004c0006t0001g0177 a0004c0006t0001g0178 a0005c0009t0002g0001 a0005c0009t0002g0002	25	188	0.1330	13	c.848 others(32): Show c.848+18217_848+18218insACAAAAAAAAAAA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	4/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217703174	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0024 a0001c0001t0042g0024	1	188	0.0053	13	c.395 others(32): Show c.395+19815_395+19827dupTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217714488	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02572.hp2 HG02622.hp1 others(2): Show HG01981.hp1 HG02572.hp2 HG02622.hp1 HG04184.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0002t0044 a0001c0003t0024 others(2): Show a0001c0001t0006 a0001c0002t0044 a0001c0003t0024 a0001c0004t0004 a0001c0004t0034	a0001c0001t0006g0096 a0001c0002t0044g0091 a0001c0003t0024g0243 others(2): Show a0001c0001t0006g0096 a0001c0002t0044g0091 a0001c0003t0024g0243 a0001c0004t0004g0248 a0001c0004t0034g0251	5	189	0.0265	13	c.396 others(32): Show c.396-27485_396-27473dupTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA21_chr1_16393643_16442424	16426580	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0261 a0006c0006t0002g0261	1	319	0.0031	13	c.35- others(28): Show c.35-4610_35-4609insTATATATATATAT	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	3/12			chr1	TogoVar
SPATA22_chr17_3435019_3476819	3435327	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03239.hp1 NA18954.hp1 others(1): Show HG03041.hp1 HG03239.hp1 NA18954.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0063	4	41	0.0976	13	c.48 others(24): Show c.4819_*4820insAAAAAAAAAAAAA	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding		4691		chr17	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp1 HG01884.hp2 others(9): Show HG00323.hp1 HG01358.hp1 HG01884.hp2 HG02258.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp1 HG03225.hp2 HG03540.hp2 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0058 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146	12	127	0.0945	13	c.329 others(30): Show c.329+3615_329+3627dupTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA22_chr17_3435019_3476819	3471524	A A	ACACACAC others(6): Show ACACACACACCACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02647.hp2 others(9): Show HG02055.hp1 HG02572.hp2 HG02647.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG06807.hp1 NA19240.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0012 a0002c0002 a0006c0012	a0002c0002t0001 a0002c0002t0002 a0006c0012t0002 a0002c0002t0001 a0002c0002t0002 a0006c0012t0002	a0002c0002t0001g0057 a0002c0002t0001g0086 a0002c0002t0002g0050 others(8): Show a0002c0002t0001g0057 a0002c0002t0001g0086 a0002c0002t0002g0050 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0006c0012t0002g0277	12	418	0.0287	13	c.-74 others(28): Show c.-74+145_-74+157dupGGTGGTGTGTGTG	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	1/8			chr17	TogoVar
SPATA31A6_chr9_42178659_42194887	42184503	G G	GTGTTATT others(6): Show GTGTTATTTTTATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02897.hp2 HG02055.hp2 HG02897.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0013 a0006c0008t0003g0013	2	52	0.0385	13	c.190 others(28): Show c.190-565_190-564insGTTATTTTTATTT	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp2 HG02922.hp2 others(1): Show HG01891.hp1 HG02809.hp2 HG02922.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	4	40	0.1000	13	c.293 others(26): Show c.293+53_293+65dupTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA3_chr2_230991121_231013040	231011072	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG00741.hp1 HG01361.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0001 a0004c0004t0002g0101 a0004c0004t0002g0001 a0004c0004t0002g0101	2	115	0.0174	13	c.39 others(24): Show c.3969_*3970insAAAAAAAAAAAAA	SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding		3033		chr2	TogoVar
SPATA48_chr7_50090883_50164256	50100820	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01496.hp1 others(5): Show HG00140.hp2 HG00735.hp2 HG01496.hp1 HG02683.hp2 HG03017.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0114 a0001c0001t0001g0116 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0231 a0002c0002t0001g0117	8	326	0.0245	13	c.554 others(30): Show c.554-3491_554-3479dupATAAATAAATAAA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50152664	T T	TATTTATT others(6): Show TATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	126	0.0079	13	c.119 others(32): Show c.1193+1107_1193+1108insATTTATTTATTTA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	8/8			chr7	TogoVar
SPATA5_chr4_122918078_123324433	123017414	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0092 a0001c0001t0008g0092	1	15	0.0667	13	c.187 others(34): Show c.1870-10750_1870-10738dupTTTTTTTTTTTTT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123050739	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0034 a0001c0001t0033 a0001c0001t0034	a0001c0001t0033g0262 a0001c0001t0034g0261 a0001c0001t0033g0262 a0001c0001t0034g0261	2	259	0.0077	13	c.208 others(32): Show c.2080-5646_2080-5634dupTTTTTTTTTTTTT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123075988	C C	CAAAAAAA others(6): Show CAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0052 a0001c0001t0062g0052	1	164	0.0061	13	c.221 others(34): Show c.2214-14581_2214-14580insACAAAAAAAAAAA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar

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