Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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	217704230	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19077.hp2 NA18959.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0006 a0001c0001t0010g0043 a0001c0001t0002g0006 a0001c0001t0010g0043	2	252	0.0079	-10	c.395 others(29): Show c.395+20891_395+20900delTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217770978	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp2 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0055 a0001c0004t0052 a0001c0004t0055	a0001c0004t0052g0238 a0001c0004t0055g0242 a0001c0004t0052g0238 a0001c0004t0055g0242	2	252	0.0079	-10	c.520 others(27): Show c.520-3335_520-3326delTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217779144	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG03225.hp1 others(1): Show HG01891.hp1 HG02630.hp2 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0052 a0001c0004t0053 others(1): Show a0001c0004t0032 a0001c0004t0052 a0001c0004t0053 a0001c0004t0055	a0001c0004t0032g0186 a0001c0004t0052g0238 a0001c0004t0053g0239 others(1): Show a0001c0004t0032g0186 a0001c0004t0052g0238 a0001c0004t0053g0239 a0001c0004t0055g0242	4	252	0.0159	-10	c.724 others(27): Show c.724-3010_724-3001delGTGTGTGTGT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217783656	GCAAAGGT others(3): Show GCAAAGGTTTA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0080 a0001c0002t0012g0080	1	252	0.0040	-10	c.872 others(27): Show c.872+1339_872+1348delGGTTTACAAA	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217808375	ACACACAC others(3): Show ACACACACCCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01099.hp1 others(5): Show HG00323.hp2 HG01074.hp1 HG01099.hp1 HG01433.hp1 HG01981.hp1 HG01993.hp2 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0209 a0001c0001t0006g0096 a0001c0001t0006g0161 others(5): Show a0001c0001t0001g0209 a0001c0001t0006g0096 a0001c0001t0006g0161 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205	8	252	0.0318	-10	c.100 others(29): Show c.1005+6527_1005+6536delACACACCCCC	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA18_chr4_52046304_52102299	52050315	CATATATA others(3): Show CATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0077 a0001c0001t0009g0077	1	308	0.0033	-10	c.-13 others(21): Show c.-1389_-1380delATATATATAT	SPATA18	ENSG00000163071.11	transcript	ENST00000295213.9	protein_coding		988		chr4	TogoVar
SPATA19_chr11_133835631_133850513	133838239	CAAGAACA others(3): Show CAAGAACAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0022 a0004c0005t0001g0022	1	362	0.0028	-10	c.26 others(21): Show c.2684_*2693delATCTGTTCTT	SPATA19	ENSG00000166118.8	transcript	ENST00000299140.8	protein_coding		2391		chr11	TogoVar
SPATA19_chr11_133835631_133850513	133847224	CACACACA others(3): Show CACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	362	0.0028	-10	c.-17 others(21): Show c.-1788_-1779delATGTGTGTGT	SPATA19	ENSG00000166118.8	transcript	ENST00000299140.8	protein_coding		1712		chr11	TogoVar
SPATA1_chr1_84501386_84572379	84560099	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01168.hp2 others(13): Show HG00639.hp2 HG00741.hp2 HG01168.hp2 HG01169.hp2 HG01361.hp2 HG01496.hp2 HG01975.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03209.hp1 HG03540.hp1 HG06807.hp1 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0003c0004 a0005c0007 a0001c0003 a0003c0004 a0005c0007	a0001c0003t0001 a0003c0004t0001 a0005c0007t0001 a0001c0003t0001 a0003c0004t0001 a0005c0007t0001	a0001c0003t0001g0075 a0003c0004t0001g0014 a0003c0004t0001g0015 others(11): Show a0001c0003t0001g0075 a0003c0004t0001g0014 a0003c0004t0001g0015 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0067 a0003c0004t0001g0069 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0076 a0003c0004t0001g0079 a0003c0004t0001g0081 a0005c0007t0001g0035	16	312	0.0513	-10	c.129 others(29): Show c.1294+4122_1294+4131delGAAAGAAAGA	SPATA1	ENSG00000122432.19	transcript	ENST00000699524.1	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA1_chr1_84501386_84572379	84572214	CTTAATTT others(3): Show CTTAATTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03579.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	312	0.0064	-10	c.63 others(21): Show c.6326_*6335delTTAATTTTTT	SPATA1	ENSG00000122432.19	transcript	ENST00000699524.1	protein_coding		4836		chr1	TogoVar
SPATA20_chr17_50542174_50560852	50554885	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03017.hp1 HG03130.hp1 others(1): Show HG00280.hp2 HG03017.hp1 HG03130.hp1 HG03710.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0076 a0003c0003t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0076 a0003c0003t0001g0025	4	334	0.0120	-10	c.215 others(27): Show c.2158-312_2158-303delTGTGTGTGTG	SPATA20	ENSG00000006282.22	transcript	ENST00000006658.11	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPATA21_chr1_16393643_16442424	16438669	CAAACAAA others(3): Show CAAACAAAACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG02083.hp2 NA18945.hp2 others(9): Show HG01168.hp2 HG02083.hp2 NA18945.hp2 NA18949.hp2 NA18959.hp2 NA18960.hp2 NA18970.hp2 NA18973.hp2 NA18990.hp1 NA18993.hp1 NA19007.hp2 NA19084.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0009 a0001c0001 a0003c0003 a0008c0009	a0001c0001t0002 a0003c0003t0002 a0008c0009t0002 a0001c0001t0002 a0003c0003t0002 a0008c0009t0002	a0001c0001t0002g0302 a0003c0003t0002g0012 a0003c0003t0002g0298 others(8): Show a0001c0001t0002g0302 a0003c0003t0002g0012 a0003c0003t0002g0298 a0003c0003t0002g0299 a0003c0003t0002g0300 a0003c0003t0002g0301 a0003c0003t0002g0304 a0003c0003t0002g0306 a0003c0003t0002g0307 a0003c0003t0002g0308 a0008c0009t0002g0269	12	352	0.0341	-10	c.-17 others(21): Show c.-1738_-1729delTGTTTTGTTT	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding		1246		chr1	TogoVar
SPATA22_chr17_3435019_3476819	3435327	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG01346.hp2 others(6): Show HG00323.hp1 HG01192.hp1 HG01346.hp2 HG01433.hp1 HG01517.hp2 HG02738.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0084 a0001c0001t0001g0109 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0150	9	420	0.0214	-10	c.48 others(21): Show c.4810_*4819delAAAAAAAAAA	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding		4691		chr17	TogoVar
SPATA22_chr17_3435019_3476819	3439151	TATCATGG others(3): Show TATCATGGAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0101 a0003c0003t0001g0101	1	420	0.0024	-10	c.98 others(19): Show c.986_*995delTTTCCATGAT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding		867		chr17	TogoVar
SPATA25_chr20_45881491_45892622	45884105	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02698.hp2 NA19004.hp2 others(1): Show HG02015.hp1 HG02698.hp2 NA19004.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	4	406	0.0099	-10	c.24 others(21): Show c.2402_*2411delGTGTGTGTGT	SPATA25	ENSG00000149634.5	transcript	ENST00000372519.4	protein_coding		2385		chr20	TogoVar
SPATA25_chr20_45881491_45892622	45889348	CTTTTCTT others(3): Show CTTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03098.hp1 HG01884.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	406	0.0049	-10	c.-17 others(21): Show c.-1768_-1759delAGAAAGAAAA	SPATA25	ENSG00000149634.5	transcript	ENST00000372519.4	protein_coding		1727		chr20	TogoVar
SPATA2L_chr16_89691357_89706705	89698474	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02965.hp2 HG02723.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0045 a0001c0002t0005g0045	2	418	0.0048	-10	c.304 others(25): Show c.304-179_304-170delAAAAAAAAAA	SPATA2L	ENSG00000158792.16	transcript	ENST00000289805.10	protein_coding	2/2			chr16	TogoVar
SPATA2_chr20_49898391_49920529	49903898	GATAGATA others(3): Show GATAGATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00621.hp1 others(3): Show HG00408.hp1 HG00597.hp2 HG00621.hp1 HG01109.hp2 HG02615.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0042 a0001c0001t0082 a0001c0004t0032 a0001c0001t0042 a0001c0001t0082 a0001c0004t0032	a0001c0001t0042g0141 a0001c0001t0042g0152 a0001c0001t0082g0162 others(1): Show a0001c0001t0042g0141 a0001c0001t0042g0152 a0001c0001t0082g0162 a0001c0004t0032g0026	6	426	0.0141	-10	c.17 others(21): Show c.1711_*1720delATATATCTAT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	3/3	1711		chr20	TogoVar
SPATA2_chr20_49898391_49920529	49903902	GATATATA others(3): Show GATATATATAT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp2 NA21309.hp2 NA18946.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0078 a0001c0001t0076 a0001c0001t0078	a0001c0001t0076g0180 a0001c0001t0078g0172 a0001c0001t0076g0180 a0001c0001t0078g0172	2	426	0.0047	-10	c.17 others(21): Show c.1707_*1716delATATATATAT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	3/3	1707		chr20	TogoVar
SPATA2_chr20_49898391_49920529	49916307	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(206): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0009 a0010 a0011 a0012	a0001c0002 a0001c0004 a0002c0003 others(7): Show a0001c0002 a0001c0004 a0002c0003 a0002c0007 a0006c0017 a0007c0015 a0009c0016 a0010c0013 a0011c0012 a0012c0014	a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 others(33): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0028 a0001c0002t0031 a0001c0002t0061 a0001c0002t0062 a0001c0004t0015 a0001c0004t0017 a0001c0004t0020 a0001c0004t0032 a0001c0004t0033 a0001c0004t0047 a0001c0004t0048 a0001c0004t0096 a0001c0004t0097 a0001c0004t0098 a0002c0003t0002 a0002c0003t0029 a0002c0003t0030 a0002c0003t0045 a0002c0003t0046 a0002c0003t0089 a0002c0003t0090 a0002c0003t0092 a0002c0003t0093 a0002c0003t0095 a0002c0007t0002 a0006c0017t0001 a0007c0015t0001 a0009c0016t0001 a0010c0013t0029 a0011c0012t0002 a0012c0014t0001	a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0036 others(70): Show a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0190 a0001c0002t0003g0003 a0001c0002t0003g0035 a0001c0002t0003g0063 a0001c0002t0003g0096 a0001c0002t0003g0099 a0001c0002t0003g0102 a0001c0002t0003g0110 a0001c0002t0003g0112 a0001c0002t0003g0116 a0001c0002t0012g0106 a0001c0002t0012g0123 a0001c0002t0013g0008 a0001c0002t0014g0010 a0001c0002t0014g0095 a0001c0002t0014g0108 a0001c0002t0028g0107 a0001c0002t0031g0015 a0001c0002t0061g0104 a0001c0002t0062g0105 a0001c0004t0015g0007 a0001c0004t0017g0012 a0001c0004t0017g0197 a0001c0004t0020g0011 a0001c0004t0032g0026 a0001c0004t0033g0027 a0001c0004t0047g0059 a0001c0004t0048g0060 a0001c0004t0096g0195 a0001c0004t0097g0196 a0001c0004t0098g0194 a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0029g0068 a0002c0003t0029g0072 a0002c0003t0030g0064 a0002c0003t0030g0066 a0002c0003t0030g0074 a0002c0003t0045g0029 a0002c0003t0046g0030 a0002c0003t0089g0067 a0002c0003t0090g0071 a0002c0003t0092g0069 a0002c0003t0093g0065 a0002c0003t0095g0070 a0002c0007t0002g0028 a0006c0017t0001g0113 a0007c0015t0001g0103 a0009c0016t0001g0109 a0010c0013t0029g0075 a0011c0012t0002g0081 a0012c0014t0001g0127	209	426	0.4906	-10	c.-10 others(21): Show c.-1040_-1031delTTTTTTTTTT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding		779		chr20	TogoVar
SPATA2_chr20_49898391_49920529	49918866	TAGCATTT others(3): Show TAGCATTTGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	426	0.0024	-10	c.-35 others(21): Show c.-3599_-3590delCTCAAATGCT	SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding		3338		chr20	TogoVar
SPATA31A1_chr9_39350669_39366962	39356539	TTTTCATT others(3): Show TTTTCATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	424	0.0024	-10	c.190 others(25): Show c.190-589_190-580delCATTTTATTT	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31A1_chr9_39350669_39366962	39356543	CATTTTAT others(3): Show CATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG00642.hp2 others(50): Show HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03579.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18962.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18983.hp2 NA18990.hp1 NA19000.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0013 a0022 a0034 a0035	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0044 a0002c0002 a0002c0007 a0002c0018 a0003c0004 a0013c0017 a0022c0043 a0034c0050 a0035c0030	a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 others(9): Show a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 a0001c0044t0002 a0002c0002t0001 a0002c0007t0001 a0002c0018t0002 a0003c0004t0002 a0013c0017t0001 a0022c0043t0002 a0034c0050t0002 a0035c0030t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0016 a0001c0003t0002g0027 a0001c0003t0002g0033 a0001c0003t0002g0054 a0001c0005t0002g0006 a0001c0044t0002g0005 a0002c0002t0001g0005 a0002c0002t0001g0059 a0002c0007t0001g0028 a0002c0018t0002g0006 a0003c0004t0002g0079 a0013c0017t0001g0005 a0022c0043t0002g0016 a0034c0050t0002g0006 a0035c0030t0001g0005	53	424	0.1250	-10	c.190 others(25): Show c.190-533_190-524delATTTTATTTT	SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31A3_chr9_66981304_66997550	66991654	AAAAATAA others(3): Show AAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01261.hp2 others(19): Show HG00438.hp1 HG00558.hp2 HG01261.hp2 HG01884.hp2 HG02280.hp1 HG02615.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 NA18612.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0009 a0012 a0014 a0041	a0001c0001 a0002c0003 a0003c0002 others(4): Show a0001c0001 a0002c0003 a0003c0002 a0009c0009 a0012c0013 a0014c0016 a0041c0045	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 others(4): Show a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0009c0009t0001 a0012c0013t0001 a0014c0016t0001 a0041c0045t0001	a0001c0001t0001g0072 a0001c0001t0001g0112 a0002c0003t0001g0040 others(7): Show a0001c0001t0001g0072 a0001c0001t0001g0112 a0002c0003t0001g0040 a0003c0002t0001g0130 a0003c0002t0001g0143 a0009c0009t0001g0013 a0009c0009t0001g0031 a0012c0013t0001g0015 a0014c0016t0001g0129 a0041c0045t0001g0113	22	406	0.0542	-10	c.190 others(25): Show c.190-533_190-524delATTTTATTTT	SPATA31A3	ENSG00000275969.3	transcript	ENST00000428649.5	protein_coding	1/3			chr9	TogoVar
SPATA31A3_chr9_66981304_66997550	66991734	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0047 a0047	a0047c0030 a0047c0030	a0047c0030t0001 a0047c0030t0001	a0047c0030t0001g0074 a0047c0030t0001g0074	1	406	0.0025	-10	c.189 others(25): Show c.189+589_189+598delGTGTGTGTGT	SPATA31A3	ENSG00000275969.3	transcript	ENST00000428649.5	protein_coding	1/3			chr9	TogoVar
SPATA31A6_chr9_42178659_42194887	42184439	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	182	0.0055	-10	c.190 others(25): Show c.190-596_190-587delGTGTGTGTGT	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31A7_chr9_61185036_61201280	61190875	TTTTTATT others(3): Show TTTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00735.hp1 others(47): Show HG00408.hp2 HG00621.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01255.hp2 HG01516.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02145.hp1 HG02683.hp2 HG02735.hp2 HG03041.hp1 HG03471.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18976.hp2 NA18980.hp1 NA18985.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19068.hp2 NA19074.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 others(4): Show a0001 a0002 a0011 a0027 a0034 a0036 a0040	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0002c0035 a0011c0014 a0027c0040 a0034c0029 a0036c0034 a0040c0060	a0001c0001t0001 a0001c0001t0006 a0001c0009t0001 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0009t0001 a0002c0002t0001 a0002c0035t0001 a0011c0014t0002 a0027c0040t0009 a0034c0029t0001 a0036c0034t0001 a0040c0060t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0006g0001 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0006g0001 a0001c0009t0001g0069 a0002c0002t0001g0001 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0043 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0075 a0002c0002t0001g0081 a0002c0035t0001g0001 a0011c0014t0002g0031 a0011c0014t0002g0032 a0027c0040t0009g0084 a0034c0029t0001g0001 a0036c0034t0001g0001 a0040c0060t0001g0001	50	225	0.2222	-10	c.190 others(25): Show c.190-533_190-524delATTTTATTTT	SPATA31A7	ENSG00000276040.5	transcript	ENST00000619167.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88135503	CTTTTTTT others(3): Show CTTTTTTTTTA	C C	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0040 a0040	a0040c0055 a0040c0055	a0040c0055t0001 a0040c0055t0001	a0040c0055t0001g0275 a0040c0055t0001g0275	1	446	0.0022	-10	c.190 others(27): Show c.190-1844_190-1835delTAAAAAAAAA	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3			chr9	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02723.hp2 others(1): Show HG02257.hp1 HG02717.hp1 HG02723.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0002c0002t0001g0033 a0001c0001t0001g0033 a0001c0001t0001g0034 a0002c0002t0001g0033	4	380	0.0105	-10	c.293 others(23): Show c.293+76_293+85delTTTTTTTTTT	SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA32_chr17_45249393_45267094	45250258	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG02258.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0045 a0001c0001t0001g0048	2	414	0.0048	-10	c.41 others(21): Show c.4158_*4167delGTGTGTGTGT	SPATA32	ENSG00000184361.13	transcript	ENST00000331780.5	protein_coding		4134		chr17	TogoVar
SPATA45_chr1_212825141_212852649	212843093	TCAAACAT others(3): Show TCAAACATACA	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03688.hp1 HG04199.hp1 HG03492.hp1 HG03688.hp1 HG04199.hp1	a0003 a0003	a0003c0000 a0003c0000	a0003c0000t0002 a0003c0000t0002	a0003c0000t0002g0028 a0003c0000t0002g0028	3	402	0.0075	-10	c.-39 others(27): Show c.-39+4477_-39+4486delTGTATGTTTG	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding	1/2			chr1	TogoVar
SPATA45_chr1_212825141_212852649	212847794	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01433.hp2 HG03486.hp2 HG00639.hp2 HG01433.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0102 a0001c0001t0001g0019 a0001c0001t0001g0102	3	402	0.0075	-10	c.-26 others(19): Show c.-263_-254delAAAAAAAAAA	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding		146		chr1	TogoVar
SPATA48_chr7_50090883_50164256	50145618	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03139.hp2 HG01106.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0006t0001 a0003c0003t0001 a0003c0006t0001	a0003c0003t0001g0074 a0003c0006t0001g0303 a0003c0003t0001g0074 a0003c0006t0001g0303	2	328	0.0061	-10	c.108 others(29): Show c.1085+4263_1085+4272delTATATATATA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	123017414	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0015 a0003c0003t0002g0015	1	262	0.0038	-10	c.187 others(31): Show c.1870-10747_1870-10738delTTTTTTTTTT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123173340	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0130 a0001c0001t0070g0130	1	262	0.0038	-10	c.234 others(31): Show c.2341-82652_2341-82643delTTTTTTTTTT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123299117	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0167 a0002c0002t0003g0167	1	262	0.0038	-10	c.250 others(31): Show c.2506-14745_2506-14736delGTGTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4597319	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG01943.hp2 others(20): Show HG00673.hp2 HG01255.hp2 HG01943.hp2 HG02040.hp1 HG02135.hp1 HG02148.hp1 HG02647.hp1 NA18612.hp2 NA18947.hp2 NA18950.hp2 NA18956.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp2 NA18991.hp1 NA19003.hp1 NA19003.hp2 NA19057.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0001t0036 a0001c0001t0039 a0001c0004t0008 a0001c0004t0021	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0025 others(20): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0316 a0001c0001t0001g0337 a0001c0001t0008g0108 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0315 a0001c0001t0021g0364 a0001c0001t0036g0192 a0001c0001t0039g0018 a0001c0004t0008g0048 a0001c0004t0008g0114 a0001c0004t0008g0275 a0001c0004t0008g0292 a0001c0004t0008g0293 a0001c0004t0008g0298 a0001c0004t0008g0309 a0001c0004t0008g0314 a0001c0004t0021g0350 a0001c0004t0021g0351 a0001c0004t0021g0352	23	408	0.0564	-10	c.34 others(21): Show c.3482_*3491delGTGTGTGTGT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding		996		chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4600472	ACAGAGAG others(3): Show ACAGAGAGAGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0013 a0001c0001t0050g0013	1	408	0.0025	-10	c.32 others(19): Show c.329_*338delGCTCTCTCTG	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	12/12	3698		chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4638763	CTCTTTTC others(3): Show CTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG03579.hp1 HG01109.hp2 HG02280.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0055 a0001c0001t0002 a0001c0001t0014 a0001c0001t0055	a0001c0001t0002g0076 a0001c0001t0014g0077 a0001c0001t0055g0154 a0001c0001t0002g0076 a0001c0001t0014g0077 a0001c0001t0055g0154	3	408	0.0074	-10	c.227 others(27): Show c.227-3374_227-3365delAAAGAAAAGA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4644183	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18992.hp2 HG04228.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0002g0203 a0001c0001t0001g0061 a0001c0001t0002g0203	2	408	0.0049	-10	c.227 others(27): Show c.227-8794_227-8785delTTTTTTTTTT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4649060	TATACACA others(3): Show TATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp2 NA18906.hp1 HG01109.hp2 HG02818.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0055 a0001c0001t0014 a0001c0001t0019 a0001c0001t0055	a0001c0001t0014g0081 a0001c0001t0019g0080 a0001c0001t0055g0154 a0001c0001t0014g0081 a0001c0001t0019g0080 a0001c0001t0055g0154	3	408	0.0074	-10	c.226 others(27): Show c.226+6971_226+6980delGTGTGTGTAT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4649062	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(181): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0014 a0016	a0001c0001 a0001c0004 a0001c0006 others(9): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0013 a0002c0002 a0002c0005 a0003c0003 a0004c0007 a0009c0020 a0014c0012 a0016c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0054 a0001c0001t0059 a0001c0004t0008 a0001c0004t0022 a0001c0006t0024 a0001c0006t0031 a0001c0006t0032 a0001c0008t0002 a0001c0013t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0017 a0002c0002t0056 a0002c0002t0057 a0002c0002t0060 a0002c0005t0005 a0002c0005t0010 a0002c0005t0031 a0002c0005t0058 a0003c0003t0002 a0003c0003t0005 a0004c0007t0001 a0004c0007t0004 a0009c0020t0018 a0014c0012t0005 a0016c0016t0020	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0017 others(179): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0319 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0347 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0002g0152 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0270 a0001c0001t0003g0056 a0001c0001t0004g0007 a0001c0001t0004g0046 a0001c0001t0006g0026 a0001c0001t0006g0049 a0001c0001t0006g0057 a0001c0001t0006g0193 a0001c0001t0006g0243 a0001c0001t0006g0266 a0001c0001t0008g0060 a0001c0001t0010g0124 a0001c0001t0010g0142 a0001c0001t0011g0220 a0001c0001t0011g0247 a0001c0001t0012g0145 a0001c0001t0012g0149 a0001c0001t0012g0224 a0001c0001t0013g0100 a0001c0001t0014g0077 a0001c0001t0015g0236 a0001c0001t0016g0375 a0001c0001t0016g0387 a0001c0001t0016g0392 a0001c0001t0016g0394 a0001c0001t0016g0396 a0001c0001t0016g0402 a0001c0001t0017g0391 a0001c0001t0017g0403 a0001c0001t0018g0336 a0001c0001t0019g0233 a0001c0001t0020g0204 a0001c0001t0020g0245 a0001c0001t0021g0364 a0001c0001t0023g0176 a0001c0001t0023g0186 a0001c0001t0023g0187 a0001c0001t0024g0144 a0001c0001t0025g0200 a0001c0001t0027g0092 a0001c0001t0027g0143 a0001c0001t0030g0343 a0001c0001t0030g0344 a0001c0001t0037g0122 a0001c0001t0038g0147 a0001c0001t0039g0018 a0001c0001t0041g0052 a0001c0001t0044g0045 a0001c0001t0047g0232 a0001c0001t0049g0246 a0001c0001t0054g0141 a0001c0001t0059g0397 a0001c0004t0008g0048 a0001c0004t0022g0150 a0001c0006t0024g0163 a0001c0006t0024g0345 a0001c0006t0031g0181 a0001c0006t0032g0153 a0001c0006t0032g0162 a0001c0008t0002g0268 a0001c0008t0002g0269 a0001c0013t0010g0085 a0002c0002t0001g0117 a0002c0002t0001g0207 a0002c0002t0002g0062 a0002c0002t0003g0004 a0002c0002t0003g0015 a0002c0002t0003g0022 a0002c0002t0003g0029 a0002c0002t0003g0053 a0002c0002t0003g0140 a0002c0002t0003g0188 a0002c0002t0003g0195 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0201 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0216 a0002c0002t0003g0252 a0002c0002t0003g0257 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0264 a0002c0002t0003g0320 a0002c0002t0003g0321 a0002c0002t0004g0205 a0002c0002t0004g0221 a0002c0002t0004g0223 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0004g0261 a0002c0002t0004g0262 a0002c0002t0004g0317 a0002c0002t0005g0027 a0002c0002t0007g0368 a0002c0002t0007g0374 a0002c0002t0007g0380 a0002c0002t0007g0399 a0002c0002t0007g0404 a0002c0002t0009g0366 a0002c0002t0009g0367 a0002c0002t0009g0370 a0002c0002t0009g0371 a0002c0002t0009g0372 a0002c0002t0009g0373 a0002c0002t0009g0377 a0002c0002t0009g0378 a0002c0002t0009g0379 a0002c0002t0009g0393 a0002c0002t0009g0395 a0002c0002t0017g0365 a0002c0002t0056g0346 a0002c0002t0057g0084 a0002c0002t0060g0369 a0002c0005t0005g0099 a0002c0005t0010g0094 a0002c0005t0010g0096 a0002c0005t0010g0158 a0002c0005t0010g0191 a0002c0005t0010g0229 a0002c0005t0031g0146 a0002c0005t0058g0170 a0003c0003t0002g0196 a0003c0003t0005g0042 a0003c0003t0005g0273 a0004c0007t0001g0016 a0004c0007t0004g0256 a0009c0020t0018g0251 a0014c0012t0005g0157 a0016c0016t0020g0318	184	408	0.4510	-10	c.226 others(27): Show c.226+6969_226+6978delGTGTGTGTGT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4650824	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG02717.hp1 HG00639.hp2 HG02451.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0173 a0001c0001t0002g0177 a0001c0001t0013g0121 a0001c0001t0001g0173 a0001c0001t0002g0177 a0001c0001t0013g0121	3	408	0.0074	-10	c.226 others(27): Show c.226+5207_226+5216delCACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48297125	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0197 a0001c0001t0042g0197	1	322	0.0031	-10	c.15 others(21): Show c.1578_*1587delACACACACAC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	13/13	1578		chr1	TogoVar
SPATA6_chr1_48290373_48477204	48320413	AAGCTGAC others(3): Show AAGCTGACTTC	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0091 a0002c0002t0005g0091	1	322	0.0031	-10	c.119 others(31): Show c.1195-14545_1195-14536delGAAGTCAGCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	11/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48331507	TCAGACAA others(3): Show TCAGACAAGAA	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	322	0.0031	-10	c.119 others(31): Show c.1194+24153_1194+24162delTTCTTGTCTG	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	11/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48340241	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(89): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04204.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0002c0002t0005 a0002c0002t0019 others(7): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0019 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0005c0006t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 others(89): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0005g0003 a0002c0002t0005g0004 a0002c0002t0005g0015 a0002c0002t0005g0021 a0002c0002t0005g0022 a0002c0002t0005g0047 a0002c0002t0005g0048 a0002c0002t0005g0049 a0002c0002t0005g0058 a0002c0002t0005g0059 a0002c0002t0005g0064 a0002c0002t0005g0066 a0002c0002t0005g0067 a0002c0002t0005g0068 a0002c0002t0005g0069 a0002c0002t0005g0070 a0002c0002t0005g0071 a0002c0002t0005g0072 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0077 a0002c0002t0005g0078 a0002c0002t0005g0079 a0002c0002t0005g0081 a0002c0002t0005g0082 a0002c0002t0005g0083 a0002c0002t0005g0085 a0002c0002t0005g0088 a0002c0002t0005g0090 a0002c0002t0005g0091 a0002c0002t0005g0092 a0002c0002t0005g0093 a0002c0002t0005g0094 a0002c0002t0005g0095 a0002c0002t0019g0076 a0002c0002t0019g0080 a0002c0002t0027g0062 a0002c0002t0028g0086 a0002c0002t0029g0061 a0002c0002t0031g0075 a0002c0002t0032g0060 a0002c0002t0033g0063 a0005c0006t0001g0032	92	322	0.2857	-10	c.119 others(31): Show c.1194+15419_1194+15428delTTTTTTTTTT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	11/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48469472	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp2 HG02965.hp1 others(2): Show HG01891.hp2 HG02895.hp2 HG02965.hp1 HG03139.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0230 a0001c0001t0006g0231 others(2): Show a0001c0001t0006g0143 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233	5	322	0.0155	-10	c.51+ others(25): Show c.51+2476_51+2485delTATATATATA	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	1/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46174334	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	251	0.0040	-10	c.194 others(27): Show c.194-5686_194-5677delGTTTTGTTTT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPATS1_chr6_44337650_44385179	44351135	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG02895.hp1 others(2): Show HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0021 a0001c0004t0037 a0001c0004t0020 a0001c0004t0021 a0001c0004t0037	a0001c0004t0020g0299 a0001c0004t0020g0300 a0001c0004t0021g0017 others(1): Show a0001c0004t0020g0299 a0001c0004t0020g0300 a0001c0004t0021g0017 a0001c0004t0037g0017	5	392	0.0128	-10	c.140 others(27): Show c.140-1584_140-1575delAAAGAAAAAA	SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr6	TogoVar

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