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
SORCS3_chr10_104636290_105270242	104786549	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp2 HG01433.hp1 others(4): Show HG01070.hp2 HG01175.hp2 HG01433.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0008	a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0003t0003 a0004c0008t0001	a0001c0001t0002g0090 a0001c0001t0002g0121 a0001c0001t0002g0133 others(4): Show a0001c0001t0002g0090 a0001c0001t0002g0121 a0001c0001t0002g0133 a0001c0002t0003g0004 a0001c0002t0003g0128 a0001c0003t0003g0055 a0004c0008t0001g0005	7	66	0.1061	21	c.628 others(40): Show c.628-56235_628-56215dupATAATAATAATAATAATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0020 a0001c0002t0011g0020	1	99	0.0101	21	c.795 others(40): Show c.795+24307_795+24308insATATATATATATATATATTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	99	0.0101	21	c.795 others(40): Show c.795+24307_795+24308insATATATATATATATATTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	99	0.0101	21	c.795 others(40): Show c.795+24307_795+24308insATATATATATTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104957554	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0055	1	86	0.0116	21	c.796 others(40): Show c.796-19781_796-19780insCACACACACACACACACACAC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105207272	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp2 HG01257.hp1 others(11): Show HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG03471.hp1 HG04204.hp1 NA18941.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0001t0010 a0001c0018t0002 a0001c0001t0002 a0001c0001t0010 a0001c0018t0002	a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 others(11): Show a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0010g0127 a0001c0018t0002g0063	14	51	0.2745	21	c.226 others(40): Show c.2262-3853_2262-3833dupATTATTATTATTATTATTATT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02647.hp1 HG02738.hp1 others(1): Show HG01099.hp2 HG02647.hp1 HG02738.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0065 others(1): Show a0001c0002 a0001c0003 a0001c0065 a0002c0025	a0001c0002t0001 a0001c0003t0018 a0001c0065t0003 others(1): Show a0001c0002t0001 a0001c0003t0018 a0001c0065t0003 a0002c0025t0003	a0001c0002t0001g0139 a0001c0003t0018g0191 a0001c0065t0003g0152 others(1): Show a0001c0002t0001g0139 a0001c0003t0018g0191 a0001c0065t0003g0152 a0002c0025t0003g0260	4	29	0.1379	21	c.168 others(40): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0159 a0002c0005t0003g0159	1	11	0.0909	21	c.205 others(40): Show c.2051+1996_2051+2016dupAAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02965.hp2 others(10): Show HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 NA18522.hp2 NA18612.hp1 NA18960.hp1 NA18977.hp1 NA18982.hp2 NA18988.hp2 NA19002.hp2 NA19065.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0004t0013	a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0086 others(10): Show a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0150 a0001c0001t0004g0048 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0011g0181 a0001c0001t0011g0182 a0001c0001t0011g0183 a0001c0001t0017g0047 a0001c0004t0013g0001	13	62	0.2097	21	c.865 others(38): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50122391	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	36	0.0278	21	c.338 others(40): Show c.3380-2008_3380-2007insAAAAAAGAAAAAAAAAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	21/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50135089	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0353 a0001c0005t0001g0353	1	279	0.0036	21	c.295 others(38): Show c.2959-851_2959-850insCTTTCTTTCTTTCTTTCTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	18/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 NA18984.hp2 others(2): Show HG02145.hp1 HG02451.hp2 NA18984.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0247 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0247 a0001c0001t0001g0286 a0001c0001t0001g0287	5	51	0.0980	21	c.511 others(36): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50224883	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	46	0.0217	21	c.87+ others(36): Show c.87+6313_87+6314insTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG03471.hp2 others(1): Show HG02723.hp1 HG02818.hp1 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0000 a0001c0003t0005g0000 a0001c0003t0001g0000 a0001c0003t0005g0000	4	331	0.0121	21	c.-58 others(30): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01099.hp1 others(2): Show HG00741.hp1 HG00741.hp2 HG01099.hp1 NA18747.hp1 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0000 a0002c0002t0012g0000 a0002c0002t0001g0000 a0002c0002t0012g0000	5	332	0.0151	21	c.-58 others(30): Show c.-586_-585insAAAAAAAAAAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813040	A A	AAAAAAAA others(14): Show AAAAAAAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp1 others(46): Show HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG02083.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02735.hp2 HG02970.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 NA18942.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp2 NA18968.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18997.hp1 NA18998.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19240.hp1 NA20752.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0008 a0002c0011 others(1): Show a0002c0002 a0002c0008 a0002c0011 a0011c0010	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0008t0008 a0002c0011t0002 a0011c0010t0014	a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0009g0000 others(3): Show a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0009g0000 a0002c0008t0008g0000 a0002c0011t0002g0000 a0011c0010t0014g0000	49	397	0.1234	21	c.-58 others(30): Show c.-582_-581insAAAAAAAACAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		261		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813040	A A	AAAAACAA others(14): Show AAAAACAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG03041.hp1 others(1): Show HG02622.hp2 HG02647.hp2 HG03041.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0000 a0002c0002t0007g0000	4	352	0.0114	21	c.-58 others(30): Show c.-582_-581insAAAACAAACAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		261		chr5	TogoVar
SOWAHA_chr5_132808302_132821786	132813044	A A	ACAAACAA others(14): Show ACAAACAAACAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	402	0.0025	21	c.-57 others(30): Show c.-578_-577insCAAACAAACAAACAAACAAAC	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		257		chr5	TogoVar
SOX13_chr1_204068115_204132743	204129288	T T	TCTCCGCC others(14): Show TCTCCGCCCTCCCCTCTCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0212 a0003c0003t0009g0212	1	362	0.0028	21	c.31 others(32): Show c.3154_*3155insCTCCGCCCTCCCCTCTCCGCC	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding		1546		chr1	TogoVar
SOX18_chr20_64042582_64054639	64042894	G G	GCGGGGGT others(14): Show GCGGGGGTCGTGGGGGACGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	220	0.0045	21	c.52 others(32): Show c.5271_*5272insTCCCGTCCCCCACGACCCCCG	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4687		chr20	TogoVar
SOX18_chr20_64042582_64054639	64045020	G G	GGGGCGGT others(14): Show GGGGCGGTGGTCCTGCCTAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	344	0.0029	21	c.31 others(32): Show c.3145_*3146insTCCTAGGCAGGACCACCGCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		2561		chr20	TogoVar
SOX18_chr20_64042582_64054639	64045020	G G	GGGGCGGT others(14): Show GGGGCGGTGGTCCTGCCTAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG03516.hp2 others(3): Show HG02976.hp2 HG03453.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0002t0001g0019 a0001c0003t0001g0010 a0001c0001t0001g0001 a0001c0002t0001g0019 a0001c0003t0001g0010	6	349	0.0172	21	c.31 others(32): Show c.3145_*3146insGCCTAGGCAGGACCACCGCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		2561		chr20	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 NA19030.hp1 HG02257.hp2 HG02572.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0125	3	123	0.0244	21	c.188 others(40): Show c.1881-5347_1881-5327dupTTTTTTTTTTTTTTTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0040 a0001c0001t0030g0040	1	12	0.0833	21	c.116 others(40): Show c.1165-2300_1165-2280dupTTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23603447	T T	TATATATA others(14): Show TATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG00738.hp2 others(22): Show HG00609.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG02132.hp2 HG02738.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18959.hp2 NA18994.hp1 NA18994.hp2 NA19077.hp2 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0070 a0001c0001t0073 a0001c0001t0077 a0001c0001t0078 a0001c0001t0089 a0001c0001t0091 a0001c0001t0094 a0001c0001t0098 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0122 a0001c0002t0005	a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0015g0174 others(22): Show a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0015g0174 a0001c0001t0017g0151 a0001c0001t0023g0026 a0001c0001t0023g0049 a0001c0001t0024g0034 a0001c0001t0029g0027 a0001c0001t0030g0099 a0001c0001t0031g0005 a0001c0001t0032g0141 a0001c0001t0032g0191 a0001c0001t0070g0137 a0001c0001t0073g0189 a0001c0001t0077g0052 a0001c0001t0078g0054 a0001c0001t0089g0202 a0001c0001t0091g0178 a0001c0001t0094g0133 a0001c0001t0098g0138 a0001c0001t0102g0016 a0001c0001t0103g0064 a0001c0001t0104g0134 a0001c0001t0122g0069 a0001c0002t0005g0101	25	208	0.1202	21	c.116 others(38): Show c.1164+939_1164+940insTTTATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18522.hp2 HG02451.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0053 a0001c0001t0001 a0001c0002t0053	a0001c0001t0001g0084 a0001c0002t0053g0095 a0001c0001t0001g0084 a0001c0002t0053g0095	2	6	0.3333	21	c.811 others(38): Show c.811-8773_811-8772insAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23872164	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0154 a0001c0001t0054g0154	1	86	0.0116	21	c.270 others(40): Show c.270+23608_270+23628dupAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX8_chr16_976770_991979	977693	C C	CGGGGAGG others(14): Show CGGGGAGGACGGGCAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0006 a0001c0001t0033g0006	1	432	0.0023	21	c.-42 others(32): Show c.-4230_-4229insGGGGAGGACGGGCAGGGAGGG	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4076		chr16	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19057.hp2 HG00408.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0013 a0001c0001t0003g0191 a0001c0001t0002g0013 a0001c0001t0003g0191	2	37	0.0541	21	c.898 others(38): Show c.898+1395_898+1396insTATATATATATATATATATAT	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00621.hp1 others(13): Show HG00140.hp2 HG00597.hp1 HG00621.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG02129.hp2 HG02602.hp2 HG03834.hp1 HG04204.hp2 NA18957.hp2 NA18962.hp2 NA18973.hp1 NA18973.hp2 NA19009.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0013 others(1): Show a0001c0001 a0002c0002 a0002c0013 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0013t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0013t0001 a0003c0003t0001	a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0122 others(13): Show a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0302 a0002c0002t0001g0142 a0002c0002t0001g0234 a0002c0013t0001g0146 a0003c0003t0001g0015 a0003c0003t0001g0137 a0003c0003t0001g0154	16	285	0.0561	21	c.108 others(38): Show c.108-2908_108-2907insAAAGAAAAGAAAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230354885	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02015.hp2 HG00438.hp2 HG00673.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0144 a0001c0001t0001g0014 a0001c0001t0001g0144	3	332	0.0090	21	c.108 others(38): Show c.108-2908_108-2907insAAAGAAAGAAAAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230354894	A A	AAAGAAAG others(14): Show AAAGAAAGAAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0078 a0001c0004t0002g0078	1	333	0.0030	21	c.108 others(38): Show c.108-2908_108-2907insAAAGAAAAGAAAGAAAGGAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 HG02647.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0137 a0001c0001t0007g0132 a0001c0001t0007g0137	2	19	0.1053	21	c.163 others(42): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPAAR_chr9_35904490_35916686	35906578	T T	TCACCACC others(14): Show TCACCACCTCCACCACCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	415	0.0024	21	c.-32 others(32): Show c.-3294_-3293insCACCACCTCCACCACCACCTC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2911		chr9	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	17	0.0588	21	c.32 others(32): Show c.3270_*3271insAAAAAAAAAAAAAAAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPACA7_chr13_112371355_112439689	112383026	A A	AAGAAGAG others(14): Show AAGAAGAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	210	0.0048	21	c.94+ others(36): Show c.94+6550_94+6551insAGAGAGAGAGAGAGAAAGAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	4	0.2500	21	c.23 others(32): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213342283	A A	ATGTATAT others(14): Show ATGTATATATATGACATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0084 a0009c0008t0001g0084	1	86	0.0116	21	c.644 others(38): Show c.644+2024_644+2025insGACATATATGTGTATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213387431	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	7	0.1429	21	c.942 others(40): Show c.942+12321_942+12341dupTTTTTTTTTTTTTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213407830	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGGAGAGAGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03490.hp1 HG01891.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	2	86	0.0233	21	c.942 others(40): Show c.942+32722_942+32723insGGAGAGAGGCAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213407929	G G	GAGGAGAG others(14): Show GAGGAGAGAGGCAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19000.hp2 NA18992.hp1 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0047 a0003c0003t0001g0045 a0003c0003t0001g0047	2	86	0.0233	21	c.942 others(40): Show c.942+32831_942+32851dupCAGGAGAGAGGCAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19000.hp2 HG02293.hp2 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0047 a0003c0003t0001g0031 a0003c0003t0001g0047	2	55	0.0364	21	c.107 others(44): Show c.1070+152739_1070+152759dupAAAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213859993	T T	TTGATGAT others(14): Show TTGATGATGATGATGATGATGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	63	0.0159	21	c.107 others(40): Show c.1071-2485_1071-2465dupTGATGATGATGATGATGATGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02280.hp2 HG02735.hp1 others(16): Show HG01081.hp1 HG02280.hp2 HG02735.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 NA18949.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA19001.hp1 NA19054.hp1 NA19085.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0008 a0001c0015 a0002c0005 others(1): Show a0001c0008 a0001c0015 a0002c0005 a0005c0011	a0001c0008t0002 a0001c0015t0001 a0002c0005t0001 others(2): Show a0001c0008t0002 a0001c0015t0001 a0002c0005t0001 a0002c0005t0002 a0005c0011t0002	a0001c0008t0002g0214 a0001c0015t0001g0221 a0001c0015t0001g0225 others(15): Show a0001c0008t0002g0214 a0001c0015t0001g0221 a0001c0015t0001g0225 a0002c0005t0001g0226 a0002c0005t0002g0088 a0002c0005t0002g0220 a0002c0005t0002g0222 a0002c0005t0002g0223 a0002c0005t0002g0224 a0002c0005t0002g0227 a0002c0005t0002g0228 a0002c0005t0002g0229 a0002c0005t0002g0230 a0002c0005t0002g0231 a0002c0005t0002g0250 a0002c0005t0002g0351 a0005c0011t0002g0005 a0005c0011t0002g0249	19	130	0.1462	21	c.300 others(38): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAGAAGAA others(14): Show AAGAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	21	c.-58 others(30): Show c.-580_-579insAGAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01243.hp2 others(8): Show HG00621.hp2 HG01074.hp1 HG01243.hp2 HG01261.hp1 HG02698.hp2 NA18951.hp2 NA18957.hp1 NA18962.hp2 NA19007.hp1 NA19079.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0021 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0149	11	146	0.0753	21	c.-18 others(32): Show c.-1805_-1804insATATATTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01993.hp2 HG02083.hp2 others(11): Show HG01243.hp1 HG01993.hp2 HG02083.hp2 HG02559.hp1 HG02602.hp2 HG04184.hp1 HG04199.hp1 NA18945.hp2 NA18956.hp1 NA18977.hp2 NA18989.hp1 NA18997.hp2 NA19060.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143	14	149	0.0940	21	c.-18 others(32): Show c.-1805_-1804insATATATATTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	136	0.0074	21	c.-18 others(32): Show c.-1805_-1804insATATATATATTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02818.hp2 HG02258.hp1 HG02486.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0113 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0113	3	138	0.0217	21	c.-18 others(32): Show c.-1805_-1804insATATATATATATTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	136	0.0074	21	c.-18 others(32): Show c.-1805_-1804insATATATATATATATATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar

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