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
SPATA17_chr1_217626344_217876696	217732084	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18990.hp1 NA19066.hp1 HG02165.hp1 NA18990.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0031 a0001c0003t0003 a0001c0003t0031	a0001c0003t0003g0223 a0001c0003t0003g0226 a0001c0003t0031g0225 a0001c0003t0003g0223 a0001c0003t0003g0226 a0001c0003t0031g0225	3	252	0.0119	20	c.396 others(37): Show c.396-9887_396-9868dupCTCTCTCTCTCTCTCTCTCT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749979	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	252	0.0040	20	c.519 others(37): Show c.519+7882_519+7883insATATATATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749983	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18969.hp1 NA19085.hp1 HG02486.hp2 NA18969.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0015 a0001c0003t0003 a0001c0001t0002 a0001c0001t0015 a0001c0003t0003	a0001c0001t0002g0013 a0001c0001t0015g0059 a0001c0003t0003g0210 a0001c0001t0002g0013 a0001c0001t0015g0059 a0001c0003t0003g0210	3	252	0.0119	20	c.519 others(37): Show c.519+7886_519+7887insATATATATATATATATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02735.hp2 NA18960.hp1 HG01981.hp1 HG02735.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0006 a0001c0003t0001 a0001c0009t0001 a0001c0001t0006 a0001c0003t0001 a0001c0009t0001	a0001c0001t0006g0096 a0001c0003t0001g0220 a0001c0009t0001g0178 a0001c0001t0006g0096 a0001c0003t0001g0220 a0001c0009t0001g0178	3	252	0.0119	20	c.519 others(37): Show c.519+7895_519+7914dupATATATATATATATATATAT	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(13): Show CTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18968.hp1 NA19063.hp1 HG02148.hp1 NA18968.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0177 a0001c0003t0003g0212 a0001c0003t0003g0228 a0001c0001t0001g0177 a0001c0003t0003g0212 a0001c0003t0003g0228	3	252	0.0119	20	c.519 others(37): Show c.519+7888_519+7889insCTCTCTATATATATATATAT	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(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03098.hp1 HG00323.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0039 a0001c0001t0002 a0001c0002t0039	a0001c0001t0002g0020 a0001c0002t0039g0057 a0001c0001t0002g0020 a0001c0002t0039g0057	2	252	0.0079	20	c.519 others(37): Show c.519+7888_519+7889insCTCTCTCTATATATATATAT	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(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	252	0.0040	20	c.519 others(37): Show c.519+7888_519+7889insCTCTCTCTCTATATATATAT	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(13): Show CTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0142 a0001c0001t0007g0142	1	252	0.0040	20	c.519 others(37): Show c.519+7888_519+7889insCTCTCTCTCTCTCTATATAT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217770978	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01069.hp2 others(10): Show HG00280.hp1 HG00733.hp2 HG01069.hp2 HG02523.hp2 HG02886.hp2 HG03579.hp1 NA18612.hp2 NA18954.hp1 NA18979.hp2 NA18984.hp2 NA18995.hp1 NA19012.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0043 a0001c0001t0046 a0001c0001t0050 a0001c0004t0004 a0002c0006t0003	a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0154 others(10): Show a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0002g0158 a0001c0001t0009g0120 a0001c0001t0010g0157 a0001c0001t0043g0155 a0001c0001t0046g0153 a0001c0001t0050g0017 a0001c0004t0004g0246 a0001c0004t0004g0252 a0002c0006t0003g0014	13	252	0.0516	20	c.520 others(37): Show c.520-3345_520-3326dupTTTTTTTTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA21_chr1_16393643_16442424	16426254	C C	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02615.hp1 HG01109.hp1 HG02258.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0001g0043 a0001c0001t0002g0265 a0001c0001t0002g0266	3	352	0.0085	20	c.35- others(35): Show c.35-4303_35-4284dupATAAATAAATAAATAAATAA	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	3/12			chr1	TogoVar
SPATA21_chr1_16393643_16442424	16426557	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19085.hp2 HG03098.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0057 a0001c0001t0001g0059	2	352	0.0057	20	c.35- others(35): Show c.35-4606_35-4587dupTATATATATATATATATATA	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	3/12			chr1	TogoVar
SPATA21_chr1_16393643_16442424	16426579	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	352	0.0028	20	c.35- others(35): Show c.35-4609_35-4608insAATATATATATATATATATA	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	3/12			chr1	TogoVar
SPATA22_chr17_3435019_3476819	3435327	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	420	0.0024	20	c.48 others(31): Show c.4819_*4820insAAAAAAAAAAAAAAAAAAAA	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding		4691		chr17	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02273.hp2 NA19090.hp1 others(1): Show HG02027.hp2 HG02273.hp2 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0134 a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0134	4	420	0.0095	20	c.329 others(37): Show c.329+3608_329+3627dupTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA24_chr5_139391767_139409089	139399417	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	336	0.0030	20	c.386 others(37): Show c.386-2275_386-2274insTTTTTTTTTTTTTTTTTTTT	SPATA24	ENSG00000170469.11	transcript	ENST00000450845.7	protein_coding	4/5			chr5	TogoVar
SPATA2_chr20_49898391_49920529	49903902	G G	GATATATA others(13): Show GATATATATAGATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0091 a0001c0001t0065g0091	1	426	0.0024	20	c.17 others(31): Show c.1716_*1717insATATATATATCTATATATAT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	3/3	1716		chr20	TogoVar
SPATA31A6_chr9_42178659_42194887	42184503	G G	GTTATTTT others(13): Show GTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0065	1	182	0.0055	20	c.190 others(35): Show c.190-543_190-524dupATTTTATTTTATTTTATTTT	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88140879	G G	GAGGCTGA others(13): Show GAGGCTGAGGCGGGAGGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	446	0.0022	20	c.-24 others(31): Show c.-2434_-2433insTGATCCTCCCGCCTCAGCCT	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding		2405		chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02559.hp1 HG03453.hp2 others(10): Show HG01993.hp1 HG02559.hp1 HG03453.hp2 HG03669.hp1 HG04184.hp1 NA18960.hp2 NA18966.hp2 NA18970.hp1 NA19001.hp2 NA19056.hp1 NA19240.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0010 a0017	a0001c0001 a0004c0004 a0006c0006 others(2): Show a0001c0001 a0004c0004 a0006c0006 a0010c0010 a0017c0016	a0001c0001t0001 a0004c0004t0001 a0006c0006t0007 others(3): Show a0001c0001t0001 a0004c0004t0001 a0006c0006t0007 a0010c0010t0001 a0017c0016t0004 a0017c0016t0011	a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0001t0001g0094 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0001t0001g0094 a0004c0004t0001g0013 a0004c0004t0001g0089 a0006c0006t0007g0060 a0010c0010t0001g0013 a0017c0016t0004g0033 a0017c0016t0011g0033	13	360	0.0361	20	c.293 others(33): Show c.293+46_293+65dupTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34886746	A A	ATCTGTCT others(13): Show ATCTGTCTGTCTGTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA19080.hp1 NA18984.hp1 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	2	434	0.0046	20	c.26 others(31): Show c.2617_*2618insCAGACAGACAGACAGACAGA	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding		2319		chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34886834	G G	GTATCTAT others(13): Show GTATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02080.hp1 HG02129.hp2 others(19): Show HG00621.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG03579.hp1 HG04184.hp2 NA18939.hp2 NA18950.hp2 NA18962.hp2 NA18970.hp1 NA18989.hp1 NA18994.hp2 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19072.hp1 NA19081.hp2 NA19084.hp1 NA19089.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0003 a0002c0002t0001g0001 a0002c0002t0001g0009 others(2): Show a0001c0001t0001g0003 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0040 a0004c0004t0001g0005	22	434	0.0507	20	c.25 others(31): Show c.2529_*2530insGATAGATAGATAGATAGATA	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding		2231		chr9	TogoVar
SPATA45_chr1_212825141_212852649	212826759	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01952.hp2 HG02027.hp2 others(1): Show HG01099.hp1 HG01952.hp2 HG02027.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0002 a0001c0001t0001g0132 a0001c0001t0001g0143	4	402	0.0100	20	c.34 others(31): Show c.3482_*3483insTTTTTTTTTTTTTTTTTTTT	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding		3381		chr1	TogoVar
SPATA48_chr7_50090883_50164256	50100812	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(83): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp1 HG02896.hp1 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 NA18522.hp2 NA18952.hp2 NA18954.hp1 NA18962.hp1 NA18963.hp1 NA18978.hp2 NA18981.hp2 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp2 NA19077.hp2 NA19079.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0003c0006 a0004c0004 a0005c0009 a0009c0012 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0005t0001 a0003c0006t0001 a0004c0004t0001 a0005c0009t0002 a0009c0012t0001 a0010c0014t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0108 others(78): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0002g0001 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0024 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0220 a0002c0002t0003g0018 a0002c0002t0003g0243 a0002c0005t0001g0256 a0003c0006t0001g0131 a0003c0006t0001g0250 a0004c0004t0001g0041 a0004c0004t0001g0239 a0005c0009t0002g0006 a0009c0012t0001g0136 a0010c0014t0001g0109	86	328	0.2622	20	c.554 others(37): Show c.554-3488_554-3469dupAATAAATAAATAAATAAATA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	122992978	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01175.hp1 others(17): Show HG00099.hp2 HG00733.hp1 HG01175.hp1 HG02040.hp1 HG02165.hp1 HG02280.hp2 HG02698.hp1 HG02717.hp1 HG03098.hp2 HG03486.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 NA18957.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18983.hp2 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0043 a0001c0001t0051 a0001c0001t0072 a0003c0003t0001 a0003c0003t0022 a0003c0003t0023 a0003c0003t0055	a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 others(17): Show a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0054 a0001c0001t0002g0068 a0001c0001t0008g0017 a0001c0001t0020g0052 a0001c0001t0024g0048 a0001c0001t0027g0106 a0001c0001t0043g0172 a0001c0001t0051g0174 a0001c0001t0072g0045 a0003c0003t0001g0011 a0003c0003t0022g0009 a0003c0003t0023g0007 a0003c0003t0023g0008 a0003c0003t0055g0012	20	262	0.0763	20	c.186 others(41): Show c.1869+13607_1869+13608insGTGTATGTGTGTGTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123299117	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp2 HG02717.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0051 a0001c0001t0043 a0001c0001t0051	a0001c0001t0043g0172 a0001c0001t0051g0174 a0001c0001t0043g0172 a0001c0001t0051g0174	2	262	0.0076	20	c.250 others(41): Show c.2506-14755_2506-14736dupGTGTGTGTGTGTGTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4600483	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(67): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02083.hp2 HG02148.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18960.hp2 NA18970.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19058.hp1 NA19062.hp2 NA19078.hp1 NA19087.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0017	a0001c0001 a0001c0008 a0002c0002 others(4): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0006c0011 a0007c0012 a0017c0016	a0001c0001t0002 a0001c0001t0017 a0001c0001t0030 others(9): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0030 a0001c0001t0043 a0001c0001t0053 a0001c0008t0002 a0002c0002t0002 a0002c0002t0017 a0003c0003t0002 a0006c0011t0002 a0007c0012t0017 a0017c0016t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(66): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0128 a0001c0001t0002g0152 a0001c0001t0002g0177 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0227 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0335 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0017g0355 a0001c0001t0017g0360 a0001c0001t0017g0391 a0001c0001t0017g0403 a0001c0001t0030g0343 a0001c0001t0030g0344 a0001c0001t0043g0135 a0001c0001t0053g0226 a0001c0008t0002g0268 a0001c0008t0002g0269 a0002c0002t0002g0062 a0002c0002t0017g0365 a0003c0003t0002g0196 a0006c0011t0002g0059 a0007c0012t0017g0354 a0017c0016t0002g0065	70	408	0.1716	20	c.32 others(29): Show c.327_*328insCTCTCTCTCTCTCTCTCTCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	12/12	3696		chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02622.hp2 HG01884.hp1 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0023 a0001c0001t0012 a0001c0001t0023	a0001c0001t0012g0079 a0001c0001t0012g0120 a0001c0001t0023g0176 a0001c0001t0012g0079 a0001c0001t0012g0120 a0001c0001t0023g0176	3	408	0.0074	20	c.352 others(35): Show c.352-602_352-601insTATATATATATATATATACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01243.hp1 others(27): Show HG00423.hp2 HG00558.hp2 HG01243.hp1 HG01256.hp2 HG01978.hp1 HG02273.hp2 HG02293.hp1 HG03688.hp1 NA18943.hp1 NA18950.hp1 NA18964.hp1 NA18968.hp1 NA18978.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18998.hp1 NA19005.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19082.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0004t0008 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0017 a0003c0003t0005	a0001c0001t0002g0341 a0001c0001t0003g0306 a0001c0001t0004g0116 others(27): Show a0001c0001t0002g0341 a0001c0001t0003g0306 a0001c0001t0004g0116 a0001c0001t0006g0305 a0001c0004t0008g0295 a0001c0004t0008g0298 a0001c0004t0008g0314 a0002c0002t0001g0117 a0002c0002t0003g0022 a0002c0002t0003g0201 a0002c0002t0003g0209 a0002c0002t0003g0282 a0002c0002t0003g0320 a0002c0002t0004g0101 a0002c0002t0004g0106 a0002c0002t0004g0205 a0002c0002t0004g0221 a0002c0002t0004g0223 a0002c0002t0004g0262 a0002c0002t0004g0340 a0002c0002t0007g0376 a0002c0002t0007g0399 a0002c0002t0007g0401 a0002c0002t0009g0366 a0002c0002t0009g0370 a0002c0002t0009g0371 a0002c0002t0009g0378 a0002c0002t0017g0365 a0003c0003t0005g0083 a0003c0003t0005g0300	30	408	0.0735	20	c.352 others(35): Show c.352-602_352-601insTATATATATATACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0393 a0002c0002t0009g0393	1	408	0.0025	20	c.352 others(35): Show c.352-602_352-601insTATATATATACACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0005 a0014c0013t0005	a0014c0013t0005g0157 a0014c0013t0005g0157	1	408	0.0025	20	c.352 others(35): Show c.352-602_352-601insTATATATACACACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4666552	A A	ACGGTGCG others(13): Show ACGGTGCGCCGCTCGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(237): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0004 a0001c0006 others(15): Show a0001c0001 a0001c0004 a0001c0006 a0001c0014 a0002c0002 a0002c0005 a0003c0003 a0004c0007 a0005c0009 a0006c0011 a0007c0012 a0010c0019 a0011c0021 a0013c0015 a0014c0013 a0015c0010 a0016c0017 a0017c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(70): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0061 a0001c0004t0008 a0001c0004t0021 a0001c0004t0022 a0001c0006t0010 a0001c0006t0024 a0001c0006t0028 a0001c0006t0031 a0001c0006t0032 a0001c0014t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0017 a0002c0002t0056 a0002c0002t0057 a0002c0002t0060 a0002c0005t0010 a0002c0005t0031 a0002c0005t0058 a0003c0003t0005 a0004c0007t0001 a0005c0009t0033 a0006c0011t0002 a0007c0012t0017 a0010c0019t0052 a0011c0021t0042 a0013c0015t0015 a0014c0013t0005 a0015c0010t0001 a0016c0017t0062 a0017c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(234): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0152 a0001c0001t0002g0177 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0003g0019 a0001c0001t0003g0056 a0001c0001t0003g0208 a0001c0001t0003g0215 a0001c0001t0004g0007 a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0046 a0001c0001t0006g0026 a0001c0001t0006g0049 a0001c0001t0006g0057 a0001c0001t0006g0130 a0001c0001t0006g0193 a0001c0001t0006g0211 a0001c0001t0008g0060 a0001c0001t0010g0142 a0001c0001t0010g0166 a0001c0001t0011g0014 a0001c0001t0011g0220 a0001c0001t0012g0079 a0001c0001t0012g0145 a0001c0001t0012g0149 a0001c0001t0012g0224 a0001c0001t0013g0002 a0001c0001t0013g0348 a0001c0001t0014g0072 a0001c0001t0014g0077 a0001c0001t0014g0081 a0001c0001t0014g0167 a0001c0001t0014g0168 a0001c0001t0014g0169 a0001c0001t0015g0138 a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0015g0236 a0001c0001t0015g0239 a0001c0001t0016g0375 a0001c0001t0016g0387 a0001c0001t0016g0392 a0001c0001t0016g0394 a0001c0001t0016g0396 a0001c0001t0016g0402 a0001c0001t0017g0355 a0001c0001t0017g0360 a0001c0001t0017g0391 a0001c0001t0017g0403 a0001c0001t0018g0078 a0001c0001t0019g0080 a0001c0001t0019g0151 a0001c0001t0019g0172 a0001c0001t0019g0179 a0001c0001t0019g0233 a0001c0001t0020g0058 a0001c0001t0020g0204 a0001c0001t0021g0364 a0001c0001t0022g0082 a0001c0001t0023g0176 a0001c0001t0023g0186 a0001c0001t0023g0187 a0001c0001t0024g0144 a0001c0001t0025g0200 a0001c0001t0025g0234 a0001c0001t0026g0349 a0001c0001t0026g0363 a0001c0001t0026g0398 a0001c0001t0027g0143 a0001c0001t0035g0356 a0001c0001t0036g0192 a0001c0001t0038g0147 a0001c0001t0039g0018 a0001c0001t0041g0052 a0001c0001t0044g0045 a0001c0001t0045g0021 a0001c0001t0046g0071 a0001c0001t0047g0232 a0001c0001t0050g0013 a0001c0001t0054g0141 a0001c0001t0055g0154 a0001c0001t0059g0397 a0001c0001t0061g0359 a0001c0004t0008g0048 a0001c0004t0021g0350 a0001c0004t0021g0351 a0001c0004t0021g0352 a0001c0004t0022g0150 a0001c0004t0022g0156 a0001c0006t0010g0240 a0001c0006t0024g0163 a0001c0006t0024g0345 a0001c0006t0028g0174 a0001c0006t0031g0181 a0001c0006t0032g0153 a0001c0006t0032g0162 a0001c0014t0010g0085 a0002c0002t0001g0030 a0002c0002t0001g0207 a0002c0002t0002g0062 a0002c0002t0003g0004 a0002c0002t0003g0015 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0029 a0002c0002t0003g0053 a0002c0002t0003g0140 a0002c0002t0003g0195 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0201 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0216 a0002c0002t0004g0205 a0002c0002t0004g0221 a0002c0002t0004g0223 a0002c0002t0005g0027 a0002c0002t0007g0362 a0002c0002t0007g0368 a0002c0002t0007g0374 a0002c0002t0007g0376 a0002c0002t0007g0380 a0002c0002t0007g0381 a0002c0002t0007g0382 a0002c0002t0007g0383 a0002c0002t0007g0385 a0002c0002t0007g0386 a0002c0002t0007g0388 a0002c0002t0007g0389 a0002c0002t0007g0390 a0002c0002t0007g0399 a0002c0002t0007g0401 a0002c0002t0007g0404 a0002c0002t0009g0353 a0002c0002t0009g0357 a0002c0002t0009g0358 a0002c0002t0009g0361 a0002c0002t0009g0366 a0002c0002t0009g0367 a0002c0002t0009g0370 a0002c0002t0009g0371 a0002c0002t0009g0372 a0002c0002t0009g0373 a0002c0002t0009g0377 a0002c0002t0009g0378 a0002c0002t0009g0379 a0002c0002t0009g0393 a0002c0002t0009g0395 a0002c0002t0017g0365 a0002c0002t0056g0346 a0002c0002t0057g0084 a0002c0002t0060g0369 a0002c0005t0010g0158 a0002c0005t0010g0191 a0002c0005t0010g0229 a0002c0005t0031g0146 a0002c0005t0058g0170 a0003c0003t0005g0042 a0003c0003t0005g0064 a0003c0003t0005g0067 a0003c0003t0005g0068 a0003c0003t0005g0070 a0003c0003t0005g0083 a0003c0003t0005g0159 a0003c0003t0005g0171 a0003c0003t0005g0180 a0004c0007t0001g0016 a0005c0009t0033g0175 a0005c0009t0033g0178 a0006c0011t0002g0059 a0007c0012t0017g0354 a0010c0019t0052g0185 a0011c0021t0042g0155 a0013c0015t0015g0230 a0014c0013t0005g0157 a0015c0010t0001g0009 a0016c0017t0062g0384 a0017c0016t0002g0065	240	408	0.5882	20	c.-30 others(29): Show c.-303_-302insCGCCTCCGAGCGGCGCACCG	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding		73		chr9	TogoVar
SPATA6_chr1_48290373_48477204	48297125	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0311 a0001c0001t0036g0311	1	322	0.0031	20	c.15 others(31): Show c.1568_*1587dupACACACACACACACACACAC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	13/13	1587		chr1	TogoVar
SPATA6_chr1_48290373_48477204	48428839	G G	GTGTATAT others(13): Show GTGTATATATATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0308 a0001c0001t0007g0308	1	322	0.0031	20	c.239 others(39): Show c.239-15708_239-15689dupTATACACACATATATATACA	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	3/12			chr1	TogoVar
SPATA7_chr14_88380657_88443460	88429890	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	364	0.0028	20	c.102 others(37): Show c.1028+443_1028+462dupTTATTTATTTATTTATTTAT	SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPATS1_chr6_44337650_44385179	44369880	C C	CATAAAAT others(13): Show CATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01255.hp2 others(27): Show HG00621.hp1 HG01069.hp1 HG01255.hp2 HG01433.hp2 HG02015.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp2 HG02683.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp2 NA18947.hp1 NA18965.hp2 NA18975.hp2 NA18983.hp1 NA18999.hp2 NA19001.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19077.hp2 NA19240.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 others(6): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0024 a0001c0001t0025 a0001c0004t0004 a0001c0004t0009 a0001c0004t0039 a0003c0006t0004	a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0061 others(25): Show a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0136 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0194 a0001c0001t0009g0022 a0001c0001t0009g0052 a0001c0001t0011g0192 a0001c0001t0024g0195 a0001c0001t0025g0036 a0001c0004t0004g0047 a0001c0004t0004g0295 a0001c0004t0004g0296 a0001c0004t0004g0303 a0001c0004t0004g0305 a0001c0004t0009g0294 a0001c0004t0009g0302 a0001c0004t0039g0301 a0003c0006t0004g0036 a0003c0006t0004g0188	30	392	0.0765	20	c.696 others(35): Show c.696-158_696-139dupAAAATAAAATAAAATAAAAT	SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATS2L_chr2_200301693_200487264	200305826	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG02723.hp2 others(1): Show HG01074.hp1 HG01074.hp2 HG02723.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0008 a0001c0001t0014 a0001c0001t0073 others(1): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0073 a0002c0004t0019	a0001c0001t0008g0088 a0001c0001t0014g0050 a0001c0001t0073g0090 others(1): Show a0001c0001t0008g0088 a0001c0001t0014g0050 a0001c0001t0073g0090 a0002c0004t0019g0285	4	300	0.0133	20	c.-11 others(31): Show c.-1169_-1168insTAAATAAATAAATAAATAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding		866		chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0149 a0001c0001t0051g0149	1	300	0.0033	20	c.39+ others(35): Show c.39+6751_39+6752insAAAAAAAAAATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0242 a0001c0003t0024g0242	1	300	0.0033	20	c.39+ others(35): Show c.39+6751_39+6752insAAAAAAAATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	300	0.0033	20	c.39+ others(35): Show c.39+6751_39+6752insAAAAAATATATATATATATA	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(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp2 HG02004.hp2 others(10): Show HG01070.hp2 HG01175.hp2 HG02004.hp2 HG02165.hp2 HG02622.hp1 HG03491.hp1 NA18950.hp2 NA18966.hp2 NA18982.hp2 NA18983.hp1 NA19010.hp2 NA19068.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0028 a0001c0001t0036 a0001c0001t0056 a0001c0003t0001 a0001c0003t0003	a0001c0001t0002g0241 a0001c0001t0004g0038 a0001c0001t0008g0013 others(10): Show a0001c0001t0002g0241 a0001c0001t0004g0038 a0001c0001t0008g0013 a0001c0001t0015g0212 a0001c0001t0028g0206 a0001c0001t0036g0034 a0001c0001t0056g0294 a0001c0003t0001g0256 a0001c0003t0001g0269 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0278 a0001c0003t0003g0123	13	300	0.0433	20	c.957 others(35): Show c.957+961_957+980dupACACACACACACACACACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG02055.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0017 a0002c0004t0012 a0001c0001t0017 a0002c0004t0012	a0001c0001t0017g0087 a0002c0004t0012g0020 a0001c0001t0017g0087 a0002c0004t0012g0020	2	300	0.0067	20	c.128 others(36): Show c.1282-117_1282-98dupAAAAAAAAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49498145	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	158	0.0063	20	c.703 others(37): Show c.703+1137_703+1138insAATATATATATATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02055.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0030 a0001c0001t0058g0030	2	438	0.0046	20	c.71 others(29): Show c.717_*718insTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG02155.hp2 others(8): Show HG00099.hp1 HG00609.hp2 HG02155.hp2 HG02559.hp1 HG02622.hp2 HG03579.hp1 HG04199.hp2 NA18961.hp1 NA18974.hp1 NA18998.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0103 a0001c0001t0001g0104 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0168 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0007g0011 a0001c0002t0001g0052	11	378	0.0291	20	c.114 others(37): Show c.114+6469_114+6488dupATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDL1_chr5_169578773_169609778	169605573	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	20	c.13 others(31): Show c.1366_*1367insGATAGATAGATAGATAGATA	SPDL1	ENSG00000040275.17	transcript	ENST00000265295.9	protein_coding		796		chr5	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(13): Show CTTTTTTTTCTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp1 HG01256.hp1 others(20): Show HG00280.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01928.hp1 HG02040.hp2 HG02056.hp1 HG02148.hp2 HG02293.hp1 HG02970.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18966.hp2 NA18967.hp1 NA19012.hp1 NA19066.hp1 NA19084.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0004 a0001c0002 a0001c0006 a0002c0004	a0001c0002t0001 a0001c0006t0005 a0001c0006t0013 others(2): Show a0001c0002t0001 a0001c0006t0005 a0001c0006t0013 a0002c0004t0001 a0002c0004t0004	a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0059 others(20): Show a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0059 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0114 a0001c0002t0001g0212 a0001c0006t0005g0005 a0001c0006t0013g0129 a0002c0004t0001g0073 a0002c0004t0001g0093 a0002c0004t0001g0101 a0002c0004t0004g0083 a0002c0004t0004g0176	23	216	0.1065	20	c.130 others(35): Show c.130+368_130+369insAAAAAAAAGAAGAAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCTCTCTC others(13): Show CCTCTCTCCCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0005 a0001c0006t0005g0005	1	216	0.0046	20	c.-63 others(39): Show c.-639-8247_-639-8246insAGAGAGAGAGAGGGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	216	0.0046	20	c.-63 others(39): Show c.-639-8266_-639-8247dupAGAGAGAGAGAGAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73124921	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp2 HG04204.hp1 others(2): Show HG02698.hp2 HG03669.hp2 HG04204.hp1 NA18612.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0014 a0001c0006t0025 a0001c0001t0006 a0001c0006t0014 a0001c0006t0025	a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0006t0014g0214 others(2): Show a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0006t0014g0214 a0001c0006t0014g0215 a0001c0006t0025g0216	5	216	0.0232	20	c.-63 others(39): Show c.-639-9399_-639-9380dupTTTATTTATTTATTTATTTA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73142980	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	216	0.0046	20	c.-64 others(41): Show c.-640+12323_-640+12342dupTCCTTCCTTCCTTCCTTCCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar

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