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
SPAG16_chr2_213279464_214415501	213468487	A A	ATATCTAT others(25): Show ATATCTATGTATTTATATATAGATATATATATC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0086 a0010c0011t0001g0086	1	85	0.0118	32	c.943 others(51): Show c.943-21473_943-21472insCTATGTATTTATATATAGATATATAT ATCTAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869297	A A	ACGTATAT others(25): Show ACGTATATATATATATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18977.hp2 NA19087.hp2 NA18968.hp2 NA18977.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0070	3	50	0.0600	32	c.121 others(51): Show c.1214+6669_1214+6670insCGTATATATATATATGTGTGTATATA TATATG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	214177916	C C	CATATATA others(25): Show CATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	16	0.0625	32	c.172 others(53): Show c.1720+28668_1720+28669insATATATACATATATATATATATAT ATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214195303	T T	TGATAGAT others(25): Show TGATAGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0026	1	31	0.0323	32	c.172 others(53): Show c.1720+46038_1720+46069dupGATAGATAGATAGATAGATAGATA GATAGATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTCTGTGT others(25): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp1 NA20129.hp2 HG01891.hp1 HG02922.hp1 NA20129.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0004 a0009c0008 a0001c0001 a0004c0004 a0009c0008	a0001c0001t0001 a0004c0004t0001 a0009c0008t0001 a0001c0001t0001 a0004c0004t0001 a0009c0008t0001	a0001c0001t0001g0003 a0004c0004t0001g0020 a0009c0008t0001g0084 a0001c0001t0001g0003 a0004c0004t0001g0020 a0009c0008t0001g0084	3	28	0.1071	32	c.172 others(53): Show c.1721-57581_1721-57580insCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02559.hp2 HG02717.hp2 others(4): Show HG01256.hp1 HG02559.hp2 HG02717.hp2 HG03098.hp1 HG03471.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0002c0002t0001g0076 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0002c0002t0001g0076 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0005c0005t0001g0005	7	32	0.2188	32	c.172 others(53): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03688.hp1 HG03942.hp2 others(11): Show HG02698.hp1 HG03688.hp1 HG03942.hp2 NA18747.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18963.hp1 NA18973.hp2 NA19011.hp1 NA19056.hp2 NA19078.hp1 NA19079.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0008t0001 a0002c0002t0001 a0002c0008t0001	a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0017 others(11): Show a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0008t0001g0049	14	220	0.0636	32	c.135 others(51): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC ACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	115	0.0087	32	c.-58 others(41): Show c.-580_-579insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	136	0.0074	32	c.-18 others(43): Show c.-1805_-1804insATATATATATATATATTTTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	136	0.0074	32	c.-18 others(43): Show c.-1805_-1804insATATATATATATATATATATATATATATATTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 NA19030.hp1 HG02280.hp1 HG02615.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0029 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0029	3	80	0.0375	32	c.146 others(51): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT ATATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAG9_chr17_50957174_51125868	51037685	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATAGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0195 a0002c0003t0011g0195	1	153	0.0065	32	c.741 others(49): Show c.741+3815_741+3816insACTATATATATATATATATATATATATA TATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077009	G G	GCTAGCTA others(25): Show GCTAGCTAGCTATCTAGCTATCTATCTAGCTAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	204	0.0049	32	c.424 others(49): Show c.424+2543_424+2574dupATAGCTAGATAGATAGCTAGATAGCTAG CTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077093	T T	TCTAGCTA others(25): Show TCTAGCTAGCTATCTAGCTATCTAGCTAGCTAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	242	0.0041	32	c.424 others(49): Show c.424+2490_424+2491insCTAGCTAGCTAGATAGCTAGATAGCTAG CTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51095992	G G	GATATATA others(25): Show GATATATATATAGTGATATATATATATAGTGAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	202	0.0050	32	c.304 others(51): Show c.304-16320_304-16289dupATCACTATATATATATATCACTATAT ATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51096006	G G	GATATATA others(25): Show GATATATATATAGTGATATATATATATAGTGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01070.hp1 others(12): Show HG00140.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG02148.hp1 HG02572.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp2 NA18522.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0002c0003t0010 a0002c0003t0018	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0004g0179 others(12): Show a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0013g0180 a0001c0001t0013g0183 a0002c0003t0010g0197 a0002c0003t0010g0198 a0002c0003t0018g0200	15	282	0.0532	32	c.304 others(51): Show c.304-16303_304-16302insATCACTATATATATATATCACTATAT ATATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATATAT others(25): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19091.hp1 HG03669.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0164 a0001c0001t0001g0180	2	101	0.0198	32	c.416 others(49): Show c.416-3715_416-3714insATATATATATTTTTTTTTTTTTTTTTTT TTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32110865	C C	CAGTATAC others(25): Show CAGTATACTATATAGTGTGTATAGAGTATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	337	0.0030	32	c.683 others(49): Show c.683-3761_683-3760insAGTGTGTATAGAGTATATATAGTATACT ATAT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190034	A A	ATATATAT others(25): Show ATATATATCATTATATAACATAATGATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 NA19240.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0029 a0001c0005 a0001c0006 a0001c0029	a0001c0005t0003 a0001c0006t0076 a0001c0029t0086 a0001c0005t0003 a0001c0006t0076 a0001c0029t0086	a0001c0005t0003g0002 a0001c0006t0076g0154 a0001c0029t0086g0209 a0001c0005t0003g0002 a0001c0006t0076g0154 a0001c0029t0086g0209	3	353	0.0085	32	c.-11 others(53): Show c.-112+29109_-112+29110insCATTATATAACATAATGATATATA TTATATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG01884.hp2 others(17): Show HG00099.hp1 HG01106.hp1 HG01884.hp2 HG01891.hp2 HG02523.hp2 HG02615.hp1 HG02738.hp2 HG03130.hp2 HG03486.hp1 HG03710.hp1 NA18951.hp1 NA18982.hp2 NA18992.hp1 NA18999.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0008 a0017	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0048 a0002c0007 a0005c0010 a0007c0015 a0008c0017 a0017c0034	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(16): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0062 a0001c0002t0001 a0001c0002t0053 a0001c0002t0055 a0001c0003t0004 a0001c0004t0001 a0001c0004t0033 a0001c0004t0072 a0001c0005t0015 a0001c0048t0010 a0002c0007t0087 a0002c0007t0120 a0005c0010t0073 a0007c0015t0077 a0008c0017t0042 a0017c0034t0041	a0001c0001t0003g0297 a0001c0001t0006g0033 a0001c0001t0023g0228 others(17): Show a0001c0001t0003g0297 a0001c0001t0006g0033 a0001c0001t0023g0228 a0001c0001t0062g0170 a0001c0002t0001g0066 a0001c0002t0001g0134 a0001c0002t0053g0012 a0001c0002t0055g0300 a0001c0003t0004g0070 a0001c0004t0001g0086 a0001c0004t0033g0314 a0001c0004t0072g0099 a0001c0005t0015g0104 a0001c0048t0010g0296 a0002c0007t0087g0352 a0002c0007t0120g0339 a0005c0010t0073g0273 a0007c0015t0077g0349 a0008c0017t0042g0095 a0017c0034t0041g0342	20	110	0.1818	32	c.65 others(43): Show c.6510_*6511insTATATATATATATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	111	0.0090	32	c.759 others(49): Show c.759-8439_759-8438insAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp1 HG02273.hp2 HG01496.hp1 HG02273.hp1 HG02273.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0013 a0001c0001 a0003c0003 a0007c0013	a0001c0001t0001 a0003c0003t0001 a0007c0013t0001 a0001c0001t0001 a0003c0003t0001 a0007c0013t0001	a0001c0001t0001g0032 a0003c0003t0001g0075 a0007c0013t0001g0067 a0001c0001t0001g0032 a0003c0003t0001g0075 a0007c0013t0001g0067	3	113	0.0265	32	c.759 others(49): Show c.759-8439_759-8438insAAGGAAAGAAGGAAGGGAGGGAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	111	0.0090	32	c.759 others(49): Show c.759-8439_759-8438insAAGGAAGGAAAGAAGGAAGGGAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTTCCTTCTTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG06807.hp2 HG02698.hp1 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0147 a0003c0003t0001g0161 a0002c0002t0001g0147 a0003c0003t0001g0161	2	112	0.0179	32	c.759 others(49): Show c.759-8439_759-8438insAAGGAAGGAAGGAAAGAAGGAAGGGAGG GAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028015	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	168	0.0060	32	c.759 others(49): Show c.759-8441_759-8440insAGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTATAT others(25): Show CTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	20	0.0500	32	c.519 others(49): Show c.519+7888_519+7889insCTATATATATATATATATATATATATAT ATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0217 a0001c0003t0003g0217	1	20	0.0500	32	c.519 others(49): Show c.519+7888_519+7889insCTCTCTCTCTATATATATATATATATAT ATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA18_chr4_52046304_52102299	52091617	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	306	0.0033	32	c.156 others(51): Show c.1564-2910_1564-2909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPATA18	ENSG00000163071.11	transcript	ENST00000295213.9	protein_coding	11/12			chr4	TogoVar
SPATA31A1_chr9_39350669_39366962	39365573	C C	CTGTGAAG others(25): Show CTGTGAAGCCTCTGGGACACCCAGATACTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	32	c.37 others(43): Show c.3764_*3765insTGTGAAGCCTCTGGGACACCCAGATACTGTCA	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding		3612		chr9	TogoVar
SPATA48_chr7_50090883_50164256	50110812	A A	ATATAATA others(25): Show ATATAATATATAATCATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp1 HG01884.hp2 others(38): Show HG00280.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18954.hp1 NA18981.hp2 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19043.hp1 NA19058.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0002c0010 a0003c0006 a0004c0004 a0004c0007 a0010c0013	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0002c0010t0001 a0003c0006t0001 a0004c0004t0001 a0004c0007t0001 a0010c0013t0001	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(38): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0060 a0002c0005t0001g0250 a0002c0005t0001g0251 a0002c0005t0001g0252 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0255 a0002c0005t0001g0256 a0002c0005t0001g0257 a0002c0005t0001g0258 a0002c0005t0001g0259 a0002c0005t0001g0260 a0002c0005t0001g0261 a0002c0005t0001g0262 a0002c0005t0001g0263 a0002c0005t0001g0303 a0002c0005t0001g0307 a0002c0010t0001g0305 a0002c0010t0001g0306 a0003c0006t0001g0249 a0004c0004t0001g0103 a0004c0004t0001g0228 a0004c0007t0001g0301 a0004c0007t0001g0302 a0004c0007t0001g0304 a0010c0013t0001g0108	41	325	0.1262	32	c.651 others(49): Show c.651+6415_651+6446dupCATATTATATATTATATATTATAATATA TAAT	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	127	0.0079	32	c.352 others(47): Show c.352-602_352-601insTATATATATATATATATATATATACACACA CA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	135	0.0074	32	c.39+ others(47): Show c.39+6751_39+6752insAAAAAAAAAAAAAAAAAATATATATATATA TA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02015.hp2 HG02109.hp2 others(13): Show HG00642.hp1 HG02015.hp2 HG02109.hp2 HG02896.hp2 HG03490.hp1 HG03831.hp1 HG03834.hp2 NA18940.hp1 NA18960.hp1 NA18967.hp2 NA18982.hp1 NA18993.hp1 NA19005.hp1 NA19058.hp2 NA19072.hp1 NA19086.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0078 a0001c0002t0069 a0003c0006t0032 a0005c0011t0001	a0001c0001t0001g0216 a0001c0001t0002g0175 a0001c0001t0002g0177 others(13): Show a0001c0001t0001g0216 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0249 a0001c0001t0003g0122 a0001c0001t0007g0272 a0001c0001t0008g0017 a0001c0001t0011g0158 a0001c0001t0013g0069 a0001c0001t0018g0079 a0001c0001t0078g0058 a0001c0002t0069g0053 a0003c0006t0032g0012 a0005c0011t0001g0222	16	42	0.3810	32	c.957 others(47): Show c.957+949_957+980dupACACACACACACACACACACACACACACAC AC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49362869	C C	CAACTGAA others(25): Show CAACTGAAACCAAACAAAAACATTAAAGTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG03041.hp2 others(2): Show HG02615.hp2 HG02886.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158	5	156	0.0321	32	c.-50 others(43): Show c.-5025_-5024insAACTGAAACCAAACAAAAACATTAAAGTTCTG	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding		4592		chr12	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02647.hp1 NA18939.hp1 others(3): Show HG01891.hp2 HG02647.hp1 NA18939.hp1 NA19006.hp1 NA19078.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0047 a0001c0001t0061 a0001c0001t0046 a0001c0001t0047 a0001c0001t0061	a0001c0001t0046g0097 a0001c0001t0046g0138 a0001c0001t0047g0024 others(1): Show a0001c0001t0046g0097 a0001c0001t0046g0138 a0001c0001t0047g0024 a0001c0001t0061g0033	6	81	0.0741	32	c.71 others(41): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG02895.hp1 others(4): Show HG00558.hp1 HG01081.hp1 HG02895.hp1 NA18992.hp1 NA19060.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0077 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0154 a0001c0001t0001g0186	7	40	0.1750	32	c.114 others(49): Show c.114+6457_114+6488dupATATATATATATATATATATATATATAT ATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0076 a0003c0003t0002g0076	1	178	0.0056	32	c.380 others(47): Show c.380-266_380-265insCAACAACAACAACAACAACAAAAAAAAAAA AA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	163	0.0061	32	c.-39 others(43): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp1 NA18994.hp2 HG00323.hp1 HG00597.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	3	165	0.0182	32	c.-39 others(43): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	163	0.0061	32	c.-39 others(43): Show c.-3964_-3963insAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547829	A A	AGAGAAAG others(25): Show AGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 NA20752.hp2 HG01070.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0032 a0005c0004 a0001c0032 a0005c0004	a0001c0032t0005 a0005c0004t0004 a0001c0032t0005 a0005c0004t0004	a0001c0032t0005g0067 a0005c0004t0004g0066 a0001c0032t0005g0067 a0005c0004t0004g0066	2	154	0.0130	32	c.-38 others(43): Show c.-3881_-3880insGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAG	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3396		chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA19068.hp1 HG02698.hp2 NA19068.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0009 a0007c0010t0001 a0001c0001t0009 a0007c0010t0001	a0001c0001t0009g0127 a0007c0010t0001g0037 a0001c0001t0009g0127 a0007c0010t0001g0037	2	34	0.0588	32	c.-38 others(43): Show c.-3878_-3877insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE3_chr7_100302702_100327196	100316044	T T	TTTGCAAC others(25): Show TTTGCAACATATAAAAAACAAAAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	342	0.0029	32	c.126 others(49): Show c.1260+201_1260+202insTTGCAACATATAAAAAACAAAAAAAGAA AAGA	SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	7/10			chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0005	1	5	0.2000	32	c.-36 others(43): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270316	T T	TATATATA others(25): Show TATATATACGTATATATATATGTATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	323	0.0031	32	c.-80 others(41): Show c.-809_-808insATATATACGTATATATATATGTATATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		514		chr22	TogoVar
SPECC1L_chr22_24265831_24422738	24288615	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	101	0.0099	32	c.-38 others(51): Show c.-38+11841_-38+11842insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0068 a0004c0005t0068	a0004c0005t0068g0226 a0004c0005t0068g0226	1	38	0.0263	32	c.-22 others(51): Show c.-22+12279_-22+12280insATATATATATATATATATATATATTT TTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051133	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCCTTCTTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0054 a0001c0003t0075g0054	1	123	0.0081	32	c.-22 others(51): Show c.-22+41716_-22+41717insTTTCCTTCTTTCTTTCCTTCTTTCCT TCTTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20274914	G G	GATTTAAT others(25): Show GATTTAATAATATTATTAAATAATTTAATAATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02717.hp2 others(2): Show HG02109.hp2 HG02145.hp2 HG02717.hp2 HG02886.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0023 a0001c0006t0045 a0001c0006t0046 others(1): Show a0001c0006t0023 a0001c0006t0045 a0001c0006t0046 a0001c0006t0048	a0001c0006t0023g0069 a0001c0006t0023g0070 a0001c0006t0045g0068 others(2): Show a0001c0006t0023g0069 a0001c0006t0023g0070 a0001c0006t0045g0068 a0001c0006t0046g0071 a0001c0006t0048g0067	5	248	0.0202	32	c.294 others(53): Show c.2940+14631_2940+14662dupATTATTAAATAATTTAATAATAAT TTAATAAT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20298948	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	55	0.0182	32	c.305 others(51): Show c.3057+1872_3057+1873insAGAGAGAGAGAGAGAGAGTGTGTGTG TGTGTG	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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