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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SP100_chr2_230411201_230550606	230436925	C C	CACATATA others(19): Show CACATATATGTGTATACACACACATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01192.hp2 others(7): Show HG01074.hp2 HG01109.hp2 HG01192.hp2 HG01261.hp2 HG02523.hp1 HG03491.hp2 HG03654.hp1 HG03927.hp1 HG03942.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0004c0006 a0006c0016	a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 a0004c0006t0004 a0006c0016t0004	a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0003t0002g0275 others(7): Show a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0281 a0002c0002t0001g0028 a0004c0006t0004g0182 a0004c0006t0004g0277 a0004c0006t0004g0282 a0006c0016t0004g0280	10	281	0.0356	26	c.108 others(43): Show c.108-6011_108-6010insCATATATGTGTATACACACACATATA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	36	0.0278	26	c.898 others(43): Show c.898+1370_898+1395dupTATATATATATATATATATATATATA		SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18						chr2	TogoVar
SP140L_chr2_230322193_230408732	230354641	G G	GGTGACAT others(19): Show GGTGACATCTGTAGTCCTAGCTATTCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0194 a0003c0003t0001g0194	1	334	0.0030	26	c.108 others(43): Show c.108-3162_108-3137dupTGACATCTGTAGTCCTAGCTATTCAG		SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	270	0.0037	26	c.108 others(43): Show c.108-2908_108-2907insAAAGAAAGAAAAAGAAAGAAAGAAAG		SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230259771	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0037 a0001c0006t0001g0037	1	168	0.0060	26	c.124 others(45): Show c.1240+4264_1240+4265insTATATATATATATATATATATATATA		SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	12/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307990	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG06807.hp2 HG00738.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0010 a0003c0004t0003 a0003c0004t0010	a0003c0004t0003g0031 a0003c0004t0010g0033 a0003c0004t0003g0031 a0003c0004t0010g0033	2	268	0.0075	26	c.205 others(45): Show c.2059-1933_2059-1932insTATATATATATATATATATATATACA		SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	190	0.0053	26	c.-42 others(37): Show c.-4275_-4274insAAAAAAAAAAAAATATATATATATAT		SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding					4037		chr19	TogoVar
SPACDR_chr7_100451620_100469260	100457801	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	221	0.0045	26	c.388 others(41): Show c.388-817_388-816insCACACACACACACACACACACACACA		SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2						chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19005.hp2 HG06807.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0209 a0001c0001t0001g0122 a0001c0001t0001g0209	2	34	0.0588	26	c.388 others(41): Show c.388-844_388-819dupCACACACACACACACACACACACACA		SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2						chr7	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0067 a0005c0004t0001g0067	1	4	0.2500	26	c.23 others(37): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTTTTTTTT		SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding					2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02523.hp1 NA18953.hp1 others(2): Show HG02040.hp2 HG02523.hp1 NA18953.hp1 NA18999.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0111	5	10	0.5000	26	c.23 others(37): Show c.2385_*2410dupTTTTTTTTTTTTTTTTTTTTTTTTTT		SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding					2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19090.hp2 NA19086.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0042 a0003c0003t0001g0034 a0001c0001t0001g0042 a0003c0003t0001g0034	2	55	0.0364	26	c.107 others(49): Show c.1070+152734_1070+152759dupAAAAAAAAAAAAAAAAAAAAAA AAAA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213817314	C C	CAGATGCT others(19): Show CAGATGCTGGTGAGACTAACAGAGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	86	0.0116	26	c.107 others(47): Show c.1071-45144_1071-45119dupAGATGCTGGTGAGACTAACAGAGA AA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0055	1	46	0.0217	26	c.121 others(45): Show c.1214+6637_1214+6638insAAAAAATATATATATATATATACGTA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02293.hp2 HG02886.hp2 others(6): Show HG01516.hp1 HG02293.hp2 HG02886.hp2 HG03490.hp2 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA18993.hp1 NA19090.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 others(6): Show a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0040 a0003c0003t0001g0045 a0003c0003t0001g0059 a0005c0005t0001g0081	9	54	0.1667	26	c.121 others(45): Show c.1214+6637_1214+6638insAAAATATATATATATATATATACGTA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAATATA others(19): Show AAAATATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0050 a0003c0003t0001g0050	1	46	0.0217	26	c.121 others(45): Show c.1214+6637_1214+6638insAATATATATATATATATATATACGTA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869285	A A	ATACGTAT others(19): Show ATACGTATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0026	1	54	0.0185	26	c.121 others(45): Show c.1214+6659_1214+6660insCGTATATATATATATATATGTGTGTA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213889716	T T	TGCATATA others(19): Show TGCATATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	86	0.0116	26	c.121 others(47): Show c.1214+27089_1214+27114dupGCATATATATATACATATATATAT AC		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0055	1	69	0.0145	26	c.140 others(47): Show c.1400+19048_1400+19049insTGTTTTGTTTTGTTTTTTTTTTTT TT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01361.hp1 HG01516.hp1 others(6): Show HG00673.hp2 HG01361.hp1 HG01516.hp1 HG03239.hp1 HG03490.hp2 HG03831.hp1 NA18968.hp1 NA19000.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0033 others(6): Show a0001c0001t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0040 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0059 a0003c0003t0001g0062	9	77	0.1169	26	c.140 others(47): Show c.1400+19048_1400+19049insTTTTTTGTTTTGTTTTTTTTTTTT TT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213949179	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 NA18992.hp1 HG02615.hp1 HG02886.hp2 NA18992.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0002 a0003c0003t0001 a0005c0005t0001 a0001c0001t0002 a0003c0003t0001 a0005c0005t0001	a0001c0001t0002g0067 a0003c0003t0001g0045 a0005c0005t0001g0081 a0001c0001t0002g0067 a0003c0003t0001g0045 a0005c0005t0001g0081	3	71	0.0423	26	c.140 others(47): Show c.1400+19048_1400+19049insTTTTTTTTTTTGTTTTTTTTTTTT TT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	38	0.0263	26	c.140 others(47): Show c.1401-33225_1401-33224insTATATATATATATAGAGAGAGAGA GA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	38	0.0263	26	c.140 others(47): Show c.1401-33225_1401-33224insTATATATATATATATAGAGAGAGA GA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352565	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	62	0.0161	26	c.172 others(47): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGAGTGTGTGT GT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02572.hp1 HG02735.hp1 others(1): Show HG02027.hp2 HG02572.hp1 HG02735.hp1 HG03139.hp2	a0002 a0008 a0012 a0002 a0008 a0012	a0002c0002 a0008c0033 a0012c0014 a0002c0002 a0008c0033 a0012c0014	a0002c0002t0001 a0008c0033t0001 a0012c0014t0001 a0002c0002t0001 a0008c0033t0001 a0012c0014t0001	a0002c0002t0001g0018 a0008c0033t0001g0014 a0012c0014t0001g0008 others(1): Show a0002c0002t0001g0018 a0008c0033t0001g0014 a0012c0014t0001g0008 a0012c0014t0001g0009	4	210	0.0190	26	c.135 others(45): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48						chr1	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA19011.hp1 HG02055.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0135 a0001c0001t0001g0075 a0001c0001t0001g0135	2	137	0.0146	26	c.-18 others(37): Show c.-1805_-1804insATATATATATATTTTTTTTTTTTTTT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	136	0.0074	26	c.-18 others(37): Show c.-1805_-1804insATATATATATATATTTTTTTTTTTTT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	136	0.0074	26	c.-18 others(37): Show c.-1805_-1804insATATATATATATATATTTTTTTTTTT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	136	0.0074	26	c.-18 others(37): Show c.-1805_-1804insATATATATATATATATATTTTTTTTT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	136	0.0074	26	c.-18 others(37): Show c.-1805_-1804insATATATATATATATATATATATATTT		SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding					1726		chr17	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	78	0.0128	26	c.146 others(45): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT		SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG01891.hp1 others(12): Show HG01175.hp1 HG01358.hp2 HG01891.hp1 HG01981.hp1 HG02145.hp1 HG02280.hp2 HG02723.hp1 HG02970.hp1 HG03139.hp1 HG03669.hp2 HG04228.hp1 NA18948.hp2 NA19009.hp2 NA19030.hp2 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0037 a0003c0014 a0004c0027	a0001c0001t0023 a0001c0002t0001 a0001c0002t0055 others(12): Show a0001c0001t0023 a0001c0002t0001 a0001c0002t0055 a0001c0003t0004 a0001c0004t0033 a0001c0005t0024 a0001c0005t0036 a0001c0005t0058 a0001c0006t0001 a0001c0006t0021 a0001c0006t0050 a0001c0006t0088 a0002c0037t0044 a0003c0014t0024 a0004c0027t0004	a0001c0001t0023g0004 a0001c0002t0001g0174 a0001c0002t0055g0326 others(12): Show a0001c0001t0023g0004 a0001c0002t0001g0174 a0001c0002t0055g0326 a0001c0003t0004g0083 a0001c0004t0033g0231 a0001c0005t0024g0353 a0001c0005t0036g0052 a0001c0005t0058g0195 a0001c0006t0001g0144 a0001c0006t0021g0056 a0001c0006t0050g0017 a0001c0006t0088g0059 a0002c0037t0044g0038 a0003c0014t0024g0146 a0004c0027t0004g0064	15	105	0.1429	26	c.65 others(37): Show c.6510_*6511insTATATATATATATATATATATATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding					2215		chr13	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0250 a0001c0004t0005g0250	1	20	0.0500	26	c.519 others(43): Show c.519+7889_519+7914dupATATATATATATATATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTATAT others(19): Show CTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	20	0.0500	26	c.519 others(43): Show c.519+7888_519+7889insCTATATATATATATATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG03239.hp2 others(1): Show HG00738.hp2 HG01168.hp2 HG03239.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0002g0019 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0002g0019 a0001c0001t0009g0122	4	23	0.1739	26	c.519 others(43): Show c.519+7888_519+7889insCTCTATATATATATATATATATATAT		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(19): Show CTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	20	0.0500	26	c.519 others(43): Show c.519+7888_519+7889insCTCTCTATATATATATATATATATAT		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(19): Show CTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18954.hp2 HG02698.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0002t0001g0064 a0001c0001t0001g0008 a0001c0002t0001g0064	2	21	0.0952	26	c.519 others(43): Show c.519+7888_519+7889insCTCTCTCTATATATATATATATATAT		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(19): Show CTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	20	0.0500	26	c.519 others(43): Show c.519+7888_519+7889insCTCTCTCTCTATATATATATATATAT		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(19): Show CTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0053 a0001c0001t0023g0053	1	20	0.0500	26	c.519 others(43): Show c.519+7888_519+7889insCTCTCTCTCTCTATATATATATATAT		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(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0018 a0002c0006t0018	a0002c0006t0018g0137 a0002c0006t0018g0137	1	25	0.0400	26	c.520 others(43): Show c.520-3351_520-3326dupTTTTTTTTTTTTTTTTTTTTTTTTTT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA19_chr11_133835631_133850513	133844543	G G	GTCAGTGG others(19): Show GTCAGTGGACATCTTTCTTCTGGTTAT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0022 a0004c0005t0001g0022	1	360	0.0028	26	c.232 others(33): Show c.232_233insATAACCAGAAGAAAGATGTCCACTGA	p.Thr others(4): Show p.Thr78fs	SPATA19	ENSG00000166118.8	transcript	ENST00000299140.8	protein_coding	3/7	299/873	232/504	78/167			chr11	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02896.hp2 HG03239.hp1 others(1): Show HG00733.hp1 HG02896.hp2 HG03239.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0001g0123 a0001c0001t0001g0142	4	119	0.0336	26	c.329 others(43): Show c.329+3627_329+3628insTTTTTTTTTTTTTTTTTTTTTTTTTT		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8						chr17	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00621.hp2 others(16): Show HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01975.hp2 HG02074.hp1 HG02630.hp2 HG02809.hp1 HG03017.hp2 NA18945.hp1 NA18956.hp1 NA18967.hp1 NA18977.hp1 NA18993.hp1 NA19006.hp1 NA19064.hp2 NA19072.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0068 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0082 a0003c0003t0001g0006	19	55	0.3455	26	c.293 others(39): Show c.293+65_293+66insTTTTTTTTTTTTTTTTTTTTTTTTTT		SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA48_chr7_50090883_50164256	50125115	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0302 a0004c0007t0001g0302	1	142	0.0070	26	c.652 others(43): Show c.652-4601_652-4600insTATATATATATATATACACACACACA		SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	122992978	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02976.hp2 HG00642.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0024 a0001c0001t0006 a0001c0001t0024	a0001c0001t0006g0240 a0001c0001t0024g0069 a0001c0001t0006g0240 a0001c0001t0024g0069	2	68	0.0294	26	c.186 others(47): Show c.1869+13607_1869+13608insGTGTGTGTGTATGTGTGTGTGTGT GT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123095065	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0091 a0001c0001t0008g0091	1	251	0.0040	26	c.234 others(45): Show c.2340+4361_2340+4362insATATATATATATATATATATATGTGT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123323070	C C	CACATATA others(19): Show CACATATATATACACACATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01167.hp2 HG02257.hp2 others(8): Show HG00733.hp2 HG01167.hp2 HG02257.hp2 HG02559.hp2 HG02818.hp2 HG02897.hp2 HG03098.hp1 HG03471.hp1 HG06807.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0002 a0001c0001t0015 a0001c0001t0061 others(4): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0061 a0001c0001t0064 a0002c0002t0013 a0005c0008t0015 a0005c0008t0029	a0001c0001t0002g0022 a0001c0001t0002g0123 a0001c0001t0002g0124 others(8): Show a0001c0001t0002g0022 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0015g0181 a0001c0001t0061g0237 a0001c0001t0064g0063 a0002c0002t0013g0129 a0005c0008t0015g0243 a0005c0008t0029g0242	11	230	0.0478	26	c.90 others(37): Show c.9006_*9007insACATATATATACACACATATATATAT		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding					3638		chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0384 a0002c0002t0007g0384	1	127	0.0079	26	c.352 others(41): Show c.352-602_352-601insTATATATATATATATATACACACACA		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11						chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0279 a0001c0002t0016g0279	1	135	0.0074	26	c.39+ others(41): Show c.39+6751_39+6752insAAAAAAAAAAAAAATATATATATATA		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(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	135	0.0074	26	c.39+ others(41): Show c.39+6751_39+6752insAAAAAATATATATATATATATATATA		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar

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