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
SP140_chr2_230220736_230318215	230307990	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0305 a0004c0003t0001g0305	1	267	0.0037	22	c.205 others(41): Show c.2059-1933_2059-1932insTATATATATATATATATACACA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307990	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 NA21309.hp2 HG00140.hp2 HG00323.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0005 a0001c0006 a0003c0005	a0001c0006t0002 a0003c0005t0003 a0001c0006t0002 a0003c0005t0003	a0001c0006t0002g0029 a0003c0005t0003g0105 a0003c0005t0003g0166 a0001c0006t0002g0029 a0003c0005t0003g0105 a0003c0005t0003g0166	3	269	0.0112	22	c.205 others(41): Show c.2059-1933_2059-1932insTATATATATATATATATATACA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP2_chr17_47891236_47933957	47910896	A A	AGTTACCT others(15): Show AGTTACCTGGTGATCTATGGTAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	364	0.0027	22	c.8-4 others(35): Show c.8-4415_8-4394dupGTTACCTGGTGATCTATGGTAT	SP2	ENSG00000167182.16	transcript	ENST00000376741.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
SP3_chr2_173895775_173970373	173933638	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02976.hp1 NA18964.hp2 others(3): Show HG02080.hp2 HG02976.hp1 NA18964.hp2 NA18977.hp2 NA18983.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0330 a0001c0001t0003g0273 a0001c0001t0005g0030 others(3): Show a0001c0001t0001g0330 a0001c0001t0003g0273 a0001c0001t0005g0030 a0002c0002t0002g0216 a0002c0002t0002g0248 a0002c0002t0002g0258	6	93	0.0645	22	c.164 others(43): Show c.1640-14875_1640-14854dupTATATATATATATATATATATA	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0191 a0001c0001t0006g0191	1	18	0.0556	22	c.163 others(43): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPACA6_chr19_51688330_51710190	51691270	A A	AGGGAGGG others(15): Show AGGGAGGGAAGGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02165.hp1 HG02027.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	414	0.0048	22	c.-22 others(33): Show c.-2257_-2256insGGGAGGGAAGGAGAGAGAGAGG	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding		2059		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112373085	T T	TCCCCAAG others(15): Show TCCCCAAGGTCAGGTGATGCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	390	0.0026	22	c.-33 others(33): Show c.-3301_-3300insCCCCAAGGTCAGGTGATGCTCC	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding		3269		chr13	TogoVar
SPACA7_chr13_112371355_112439689	112383026	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01168.hp1 HG01243.hp1 others(92): Show HG00621.hp2 HG01168.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18961.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 others(86): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0281 a0001c0001t0003g0279 a0001c0003t0001g0276 a0001c0008t0001g0278	95	304	0.3125	22	c.94+ others(37): Show c.94+6566_94+6567insGAGAGAGAGAGAGAGAGAAAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112383045	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(39): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00639.hp2 HG00735.hp2 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01346.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02273.hp2 HG02300.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG03130.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0002c0002t0001 a0003c0007t0001 a0001c0001t0001 a0002c0002t0001 a0003c0007t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0294 others(37): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0002c0002t0001g0316 a0003c0007t0001g0329	42	390	0.1077	22	c.94+ others(37): Show c.94+6566_94+6567insGAGAGAGAGAGAGAGAGAAAGG	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6			chr13	TogoVar
SPACA7_chr13_112371355_112439689	112430174	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	115	0.0087	22	c.446 others(39): Show c.446-2256_446-2235dupGTGTGTGTGTGTGTGTGTGTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACDR_chr7_100451620_100469260	100457801	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	221	0.0045	22	c.388 others(37): Show c.388-817_388-816insCACACACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	33	0.0303	22	c.388 others(37): Show c.388-819_388-818insCACACACACACACACACACATA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02135.hp2 NA18962.hp2 others(3): Show HG00673.hp1 HG02135.hp2 NA18962.hp2 NA18979.hp2 NA18990.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0210	6	38	0.1579	22	c.388 others(37): Show c.388-840_388-819dupCACACACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457841	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	310	0.0032	22	c.388 others(37): Show c.388-857_388-856insTATACACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG16_chr2_213279464_214415501	213387431	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	7	0.1429	22	c.942 others(41): Show c.942+12320_942+12341dupTTTTTTTTTTTTTTTTTTTTTT	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(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp1 HG02647.hp2 HG02717.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0016 a0003c0003t0001g0080 a0001c0001t0001g0016 a0003c0003t0001g0080	2	55	0.0364	22	c.107 others(45): Show c.1070+152738_1070+152759dupAAAAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213896573	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	82	0.0122	22	c.121 others(43): Show c.1215-33380_1215-33379insTATATATATATATATATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213913573	A A	ATATATGT others(15): Show ATATATGTACATGTACATATACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19043.hp1 HG02717.hp2 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0012 a0006c0006t0001g0024 a0001c0001t0001g0012 a0006c0006t0001g0024	2	12	0.1667	22	c.121 others(43): Show c.1215-16367_1215-16366insCGTATATGTACATGTACATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213913573	A A	ATATATGT others(15): Show ATATATGTACATGTACATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	11	0.0909	22	c.121 others(43): Show c.1215-16309_1215-16288dupGTACATATATGTATATGTACAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0074	1	42	0.0238	22	c.140 others(43): Show c.1401-37815_1401-37814insTATATATATATACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0044 a0003c0003t0002g0044	1	42	0.0238	22	c.140 others(43): Show c.1401-37815_1401-37814insTATATATATATATACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	38	0.0263	22	c.140 others(43): Show c.1401-33225_1401-33224insTATATATATATAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(15): Show TATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	38	0.0263	22	c.140 others(43): Show c.1401-33225_1401-33224insTATATATATATATATAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214319200	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01516.hp1 HG02015.hp2 others(5): Show HG00735.hp1 HG01516.hp1 HG02015.hp2 HG02293.hp1 HG02717.hp2 NA18993.hp2 NA19043.hp2 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0025 a0002c0002t0001g0001 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0002c0002t0001g0001 a0002c0002t0001g0018 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0063 a0003c0003t0001g0040	8	24	0.3333	22	c.172 others(43): Show c.1721-90937_1721-90916dupCACACACACACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352565	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 HG03453.hp1 others(2): Show HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03579.hp1 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0006c0006t0001g0082	5	66	0.0758	22	c.172 others(43): Show c.1721-57565_1721-57564insGTGTGTGTGTGAGTGTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089332	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02818.hp1 others(8): Show HG02615.hp2 HG02630.hp2 HG02818.hp1 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG04199.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0004 a0001c0026 a0003c0003 others(1): Show a0001c0004 a0001c0026 a0003c0003 a0013c0016	a0001c0004t0001 a0001c0026t0001 a0003c0003t0001 others(1): Show a0001c0004t0001 a0001c0026t0001 a0003c0003t0001 a0013c0016t0002	a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 others(8): Show a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0204 a0001c0004t0001g0206 a0001c0004t0001g0214 a0001c0004t0001g0218 a0001c0026t0001g0261 a0003c0003t0001g0086 a0013c0016t0002g0085 a0013c0016t0002g0207	11	170	0.0647	22	c.135 others(41): Show c.1359+2252_1359+2273dupACACACACACACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118103840	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0132 a0004c0005t0001g0132	1	4	0.2500	22	c.448 others(39): Show c.448-1936_448-1915dupACACACACACACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	4/48			chr1	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03239.hp1 HG03579.hp2 others(6): Show HG02148.hp1 HG03239.hp1 HG03579.hp2 HG03942.hp1 NA18944.hp2 NA18946.hp2 NA18965.hp2 NA19086.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0005 a0001c0008 a0002c0005	a0001c0008t0002 a0002c0005t0001 a0002c0005t0002 a0001c0008t0002 a0002c0005t0001 a0002c0005t0002	a0001c0008t0002g0215 a0001c0008t0002g0238 a0002c0005t0001g0233 others(6): Show a0001c0008t0002g0215 a0001c0008t0002g0238 a0002c0005t0001g0233 a0002c0005t0001g0234 a0002c0005t0002g0232 a0002c0005t0002g0235 a0002c0005t0002g0236 a0002c0005t0002g0237 a0002c0005t0002g0245	9	120	0.0750	22	c.300 others(39): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02615.hp2 HG01496.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0001t0001g0002 a0001c0001t0001g0043	2	116	0.0172	22	c.-58 others(31): Show c.-580_-579insAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615460	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	295	0.0034	22	c.-54 others(31): Show c.-544_-543insAAAGAAAGAAAGAAAGAAAAGA	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		368		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG03490.hp2 HG03927.hp1 HG01099.hp1 HG03490.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0021	3	138	0.0217	22	c.-18 others(33): Show c.-1805_-1804insATATATTTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01175.hp1 others(4): Show HG00438.hp2 HG00558.hp1 HG01175.hp1 HG02074.hp2 NA18747.hp1 NA18984.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0133 a0003c0003t0001g0137	7	142	0.0493	22	c.-18 others(33): Show c.-1805_-1804insATATATATTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01123.hp2 HG02109.hp2 others(2): Show HG00597.hp2 HG01123.hp2 HG02109.hp2 HG03579.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0003c0003t0001g0139	5	140	0.0357	22	c.-18 others(33): Show c.-1805_-1804insATATATATATTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp2 NA21309.hp2 HG01934.hp1 HG01934.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0142 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0142	3	138	0.0217	22	c.-18 others(33): Show c.-1805_-1804insATATATATATATTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0009 a0001c0001t0001g0011	2	137	0.0146	22	c.-18 others(33): Show c.-1805_-1804insATATATATATATATTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	136	0.0074	22	c.-18 others(33): Show c.-1805_-1804insATATATATATATATATATTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	136	0.0074	22	c.-18 others(33): Show c.-1805_-1804insATATATATATATATATATATAT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600765	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	291	0.0034	22	c.-18 others(33): Show c.-1820_-1819insAATATATATATATATATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1741		chr17	TogoVar
SPAG7_chr17_4954226_4972817	4955883	C C	CCTGTCTC others(15): Show CCTGTCTCTGCCCTGTCTCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	422	0.0024	22	c.36 others(33): Show c.3629_*3650dupAGCAGAGACAGGGCAGAGACAG	SPAG7	ENSG00000091640.8	transcript	ENST00000206020.8	protein_coding		3342		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51075195	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0292 a0002c0003t0008g0292	1	142	0.0070	22	c.424 others(39): Show c.424+4367_424+4388dupTTTTTTTTTTTTTTTTTTTTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51096038	G G	GATATATA others(15): Show GATATATATATATAGTGATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0292 a0002c0003t0008g0292	1	227	0.0044	22	c.304 others(41): Show c.304-16356_304-16335dupATATATCACTATATATATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPANXN1_chrX_145242503_145261208	145260654	C C	CTCTCTCT others(15): Show CTCTCTCTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	198	0.0051	22	c.48 others(33): Show c.4840_*4841insTCTCTCTGTGTGTGTGTGTGTG	SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding		4447		chrX	TogoVar
SPAST_chr2_32058556_32162637	32066995	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	330	0.0030	22	c.415 others(39): Show c.415+2761_415+2762insAAAAAAAACCAAAAAAAAAAAA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32075435	A A	AAAAAAAA others(15): Show AAAAAAAAAATTAAAACAAAAAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0080 a0001c0001t0007g0080	1	340	0.0029	22	c.415 others(41): Show c.415+11198_415+11199insTTAAAACAAAAATAAAAAAAAA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	100	0.0100	22	c.416 others(39): Show c.416-3715_416-3714insATATTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18973.hp2 HG03688.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0178 a0001c0001t0001g0121 a0001c0001t0001g0178	2	101	0.0198	22	c.416 others(39): Show c.416-3701_416-3700insTTTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32110667	A A	AGTATATA others(15): Show AGTATATATAGTGTATATATACT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	335	0.0030	22	c.683 others(39): Show c.683-3956_683-3935dupTATATACTGTATATATAGTGTA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190256	T T	TATATATT others(15): Show TATATATTATTATATAACATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02027.hp1 HG02027.hp2 others(3): Show HG00738.hp1 HG02027.hp1 HG02027.hp2 HG03688.hp2 HG03831.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0113 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0113 a0001c0002t0008 a0001c0004t0009 a0001c0006t0031	a0001c0001t0004g0128 a0001c0001t0006g0321 a0001c0001t0113g0230 others(3): Show a0001c0001t0004g0128 a0001c0001t0006g0321 a0001c0001t0113g0230 a0001c0002t0008g0132 a0001c0004t0009g0304 a0001c0006t0031g0224	6	340	0.0176	22	c.-11 others(43): Show c.-112+29327_-112+29328insTATTATTATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190257	A A	ATATATTA others(15): Show ATATATTATTATATAACATATGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0022 a0001c0005t0029g0022	1	323	0.0031	22	c.-11 others(43): Show c.-112+29327_-112+29328insTATTATTATATAACATATGGTA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24271009	C C	CTCCACTC others(15): Show CTCCACTCTCTCTCACTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG03540.hp1 HG02572.hp1 HG02818.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0051 a0002c0007t0083 a0001c0002t0051 a0002c0007t0083	a0001c0002t0051g0027 a0001c0002t0051g0338 a0002c0007t0083g0147 a0001c0002t0051g0027 a0001c0002t0051g0338 a0002c0007t0083g0147	3	354	0.0085	22	c.216 others(43): Show c.2165-13126_2165-13125insTCCACTCTCTCTCACTCTCTCT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12			chr13	TogoVar

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