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	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	230510473	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02683.hp1 HG03540.hp2 HG02257.hp2 HG02683.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0003t0002 a0002c0005t0001 a0001c0001t0002 a0001c0003t0002 a0002c0005t0001	a0001c0001t0002g0203 a0001c0003t0002g0100 a0002c0005t0001g0256 a0001c0001t0002g0203 a0001c0003t0002g0100 a0002c0005t0001g0256	3	4	0.7500	-15	c.205 others(32): Show c.2053-607_2053-593delTTTTTTTTTTTTTTT		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230535906	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0126 a0001c0001t0019g0126	1	70	0.0143	-15	c.209 others(34): Show c.2095-3346_2095-3332delAAAAAAAAAAAAAAA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP8_chr7_20777279_20791886	20790841	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 NA19030.hp1 HG01243.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	187	0.0107	-15	c.-40 others(26): Show c.-4058_-4044delTTTTTTTTTTTTTTT		SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding					3956		chr7	TogoVar
SP8_chr7_20777279_20791886	20790869	AAAAAAAA others(8): Show AAAAAAAAAAAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-15	c.-40 others(26): Show c.-4086_-4072delCTCTTTTTTTTTTTT		SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding					3984		chr7	TogoVar
SP9_chr2_174329954_174343500	174337446	GGGCGGCG others(8): Show GGGCGGCGGCAGCGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01928.hp1 HG02056.hp2 HG02080.hp2 others(17): Show HG01928.hp1 HG02056.hp2 HG02080.hp2 HG02523.hp1 NA18939.hp1 NA18944.hp2 NA18954.hp1 NA18963.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18993.hp2 NA19007.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19076.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0014 a0002c0004 a0005c0014	a0002c0004t0001 a0002c0004t0002 a0005c0014t0001 a0002c0004t0001 a0002c0004t0002 a0005c0014t0001	a0002c0004t0001g0003 a0002c0004t0002g0002 a0005c0014t0001g0001 a0002c0004t0001g0003 a0002c0004t0002g0002 a0005c0014t0001g0001	20	402	0.0498	-15	c.138 others(24): Show c.1386_1400delAGCGGCGGCGGCGGC	p.Ala others(13): Show p.Ala463_Ala467del	SP9	ENSG00000217236.2	transcript	ENST00000394967.3	protein_coding	2/2	1525/2554	1386/1455	462/484		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA4_chr19_48601742_48612714	48602705	ATATATAT others(8): Show ATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA19030.hp1 NA19074.hp1 NA18961.hp1 NA19030.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	267	0.0112	-15	c.-42 others(26): Show c.-4273_-4259delTATATATATATATAT		SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding					4036		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602825	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01346.hp2 HG01255.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	83	0.0241	-15	c.-41 others(26): Show c.-4153_-4139delTTATTATTATTATTA		SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding					3916		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112383181	GAAAGAAA others(8): Show GAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	390	0.0026	-15	c.94+ others(30): Show c.94+6704_94+6718delAAGAAAGAAAGAAAA		SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112414388	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp2 HG01928.hp1 others(2): Show HG01257.hp1 HG01515.hp2 HG01928.hp1 HG02300.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 others(2): Show a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0002g0091 a0002c0002t0002g0098	5	10	0.5000	-15	c.445 others(34): Show c.445+13250_445+13264delTTTTTTTTTTTTTTT		SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213322342	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	86	0.0116	-15	c.536 others(32): Show c.536+4993_536+5007delAAAAAAAACAAAAAA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213377891	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	86	0.0116	-15	c.942 others(32): Show c.942+2774_942+2788delATATATATATATTTT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213377893	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	66	0.0152	-15	c.942 others(32): Show c.942+2776_942+2790delATATATATATTTTTT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213387431	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	7	0.1429	-15	c.942 others(34): Show c.942+12327_942+12341delTTTTTTTTTTTTTTT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213588808	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	11	0.0909	-15	c.107 others(36): Show c.1070+98739_1070+98753delAAAAAAAAAAAAAAA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213712502	TAAAAGAT others(8): Show TAAAAGATGACAAGAG	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0034 a0003c0003t0001g0034	1	86	0.0116	-15	c.107 others(38): Show c.1071-149979_1071-149965delAGATGACAAGAGAAA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213724787	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02886.hp1 HG02976.hp1 others(3): Show HG02015.hp1 HG02886.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp2 NA20129.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0007c0007t0001	a0001c0001t0001g0003 a0001c0001t0002g0004 a0002c0002t0001g0011 others(3): Show a0001c0001t0001g0003 a0001c0001t0002g0004 a0002c0002t0001g0011 a0002c0002t0001g0075 a0002c0002t0001g0077 a0007c0007t0001g0083	6	86	0.0698	-15	c.107 others(38): Show c.1071-137691_1071-137677delAAAAAAAAGAAAAAA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213784269	AAAGATTT others(8): Show AAAGATTTCACTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01256.hp2 others(37): Show HG00673.hp2 HG00735.hp2 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG02293.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03831.hp1 HG03831.hp2 NA18968.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18992.hp1 NA18993.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0011	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0005c0005t0001 a0006c0006t0001 a0011c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(37): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0002g0067 a0001c0001t0002g0072 a0002c0002t0001g0057 a0002c0002t0001g0060 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0040 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0059 a0003c0003t0001g0062 a0003c0003t0001g0080 a0003c0003t0002g0044 a0005c0005t0001g0081 a0006c0006t0001g0082 a0011c0009t0001g0085	40	86	0.4651	-15	c.107 others(36): Show c.1071-78200_1071-78186delAAGATTTCACTTTTT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213859202	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG02886.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0075 a0002c0002t0001g0077	2	86	0.0233	-15	c.107 others(34): Show c.1071-3282_1071-3268delAAAAAAAAAAAAAAC		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15						chr2	TogoVar
SPAG16_chr2_213279464_214415501	213932179	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	86	0.0116	-15	c.140 others(34): Show c.1400+2035_1400+2049delATATATATATATATA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15						chr2	TogoVar
SPAG16_chr2_213279464_214415501	214108465	ACACACAC others(8): Show ACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01361.hp2 others(9): Show HG00673.hp1 HG00735.hp1 HG01361.hp2 HG02015.hp2 HG02615.hp1 HG02886.hp1 HG02976.hp2 HG03130.hp1 HG03239.hp1 NA18977.hp1 NA18993.hp1 NA19030.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001 a0010c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0002g0067 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0002g0067 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0075 a0002c0002t0001g0077 a0003c0003t0001g0029 a0003c0003t0001g0032 a0006c0006t0001g0082 a0010c0011t0001g0086	12	86	0.1395	-15	c.159 others(32): Show c.1593+206_1593+220delACACACACACACACC		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214165469	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp1 HG02886.hp1 others(2): Show HG00735.hp2 HG02109.hp1 HG02886.hp1 HG03471.hp1 NA18977.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0001t0002g0006 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0001t0002g0006 a0002c0002t0001g0077 a0003c0003t0003g0019	5	22	0.2273	-15	c.172 others(36): Show c.1720+16226_1720+16240delTTTTTTTTTTTTTTT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214248287	ATATTATT others(8): Show ATATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	14	0.0714	-15	c.172 others(36): Show c.1720+99056_1720+99070delATTATTATTATTATT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214301028	TATAATAA others(8): Show TATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0017 a0005c0005t0001g0017	1	10	0.1000	-15	c.172 others(38): Show c.1721-109086_1721-109072delTAATAATAATAATAA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG9_chr17_50957174_51125868	51053853	AAGTATAT others(8): Show AAGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG03225.hp1 HG01891.hp2 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0155 a0001c0001t0001g0229 a0001c0002t0001g0277 a0001c0001t0001g0155 a0001c0001t0001g0229 a0001c0002t0001g0277	3	228	0.0132	-15	c.495 others(32): Show c.495+2544_495+2558delATATATATATATACT		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29						chr17	TogoVar
SPANXN5_chrX_52791144_52802427	52800831	GCTTTTCT others(8): Show GCTTTTCTTTTCTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01081.hp2 others(11): Show HG00639.hp2 HG00642.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp2 HG01496.hp2 HG01978.hp1 HG01981.hp2 HG02258.hp1 HG02615.hp1 HG02809.hp1 HG03471.hp1 HG03704.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0002t0003g0006	14	29	0.4828	-15	c.-34 others(26): Show c.-3498_-3484delAAAAGAAAAGAAAAG		SPANXN5	ENSG00000204363.5	transcript	ENST00000375511.4	protein_coding					3405		chrX	TogoVar
SPARCL1_chr4_87468335_87534376	87486888	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02615.hp2 others(9): Show HG02145.hp1 HG02258.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp2 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0012 a0004c0005 a0004c0012	a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 others(1): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 a0004c0012t0001	a0004c0005t0001g0065 a0004c0005t0001g0067 a0004c0005t0001g0087 others(8): Show a0004c0005t0001g0065 a0004c0005t0001g0067 a0004c0005t0001g0087 a0004c0005t0002g0015 a0004c0005t0002g0264 a0004c0005t0002g0265 a0004c0005t0002g0266 a0004c0005t0002g0267 a0004c0005t0005g0019 a0004c0005t0005g0020 a0004c0012t0001g0066	12	51	0.2353	-15	c.153 others(34): Show c.1531+3370_1531+3384delAAAAAAAAAAAAAAA		SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	7/10						chr4	TogoVar
SPARCL1_chr4_87468335_87534376	87506767	TCTCTATC others(8): Show TCTCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02015.hp2 HG02135.hp2 others(4): Show HG00738.hp1 HG02015.hp2 HG02135.hp2 HG02809.hp2 HG03098.hp1 HG06807.hp1 NA19058.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0001 a0003c0004t0003 a0002c0001t0001 a0003c0004t0003	a0002c0001t0001g0126 a0003c0004t0003g0009 a0003c0004t0003g0022 others(4): Show a0002c0001t0001g0126 a0003c0004t0003g0009 a0003c0004t0003g0022 a0003c0004t0003g0099 a0003c0004t0003g0104 a0003c0004t0003g0107 a0003c0004t0003g0123	7	388	0.0180	-15	c.-11 others(32): Show c.-11-7197_-11-7183delGATAGATAGATAGAG		SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10						chr4	TogoVar
SPARCL1_chr4_87468335_87534376	87506768	CTCTATCT others(8): Show CTCTATCTATCTATCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(88): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp2 HG01167.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03927.hp2 HG06807.hp2 NA18939.hp2 NA18942.hp2 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0004c0005 a0005c0007 a0007c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0003c0004t0001 a0003c0004t0002 a0004c0005t0001 a0005c0007t0001 a0007c0017t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0024 others(86): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0083 a0001c0002t0002g0017 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0171 a0001c0003t0006g0363 a0002c0001t0001g0068 a0002c0001t0001g0093 a0002c0001t0001g0212 a0002c0001t0002g0016 a0002c0001t0002g0255 a0002c0001t0002g0256 a0002c0001t0002g0259 a0002c0001t0002g0289 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0293 a0002c0001t0002g0295 a0002c0001t0002g0296 a0002c0001t0002g0300 a0002c0001t0002g0305 a0002c0001t0002g0307 a0002c0001t0002g0311 a0002c0001t0002g0312 a0002c0001t0002g0319 a0002c0001t0002g0320 a0002c0001t0002g0322 a0002c0001t0002g0323 a0002c0001t0002g0324 a0002c0001t0002g0334 a0002c0001t0002g0335 a0002c0001t0002g0337 a0002c0001t0002g0340 a0002c0001t0002g0341 a0002c0001t0002g0365 a0002c0001t0006g0257 a0003c0004t0001g0084 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0247 a0003c0004t0002g0278 a0003c0004t0002g0351 a0003c0004t0002g0352 a0003c0004t0002g0353 a0003c0004t0002g0355 a0003c0004t0002g0356 a0003c0004t0002g0357 a0003c0004t0002g0358 a0003c0004t0002g0359 a0004c0005t0001g0087 a0005c0007t0001g0005 a0005c0007t0001g0048 a0007c0017t0001g0038	91	314	0.2898	-15	c.-11 others(32): Show c.-11-7198_-11-7184delTGATAGATAGATAGA		SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	1/10						chr4	TogoVar
SPAST_chr2_32058556_32162637	32083735	ATATATTT others(8): Show ATATATTTATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	340	0.0029	-15	c.416 others(32): Show c.416-3751_416-3737delTTATATATACTATAT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32091245	CTATTATT others(8): Show CTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	20	0.0500	-15	c.586 others(32): Show c.586+1678_586+1692delATTATTATTATTATT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32126469	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02897.hp2 HG02922.hp1 HG01891.hp1 HG02897.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0069 a0001c0001t0013g0341 a0001c0001t0013g0068 a0001c0001t0013g0069 a0001c0001t0013g0341	3	142	0.0211	-15	c.109 others(32): Show c.1099-464_1099-450delTTTTTTTTTTTTTTT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24279077	TGGAGCTT others(8): Show TGGAGCTTACATTCTG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03710.hp1 HG01099.hp2 HG03710.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0032 a0007c0015t0077 a0007c0015t0032 a0007c0015t0077	a0007c0015t0032g0244 a0007c0015t0077g0349 a0007c0015t0032g0244 a0007c0015t0077g0349	2	354	0.0056	-15	c.216 others(34): Show c.2165-5056_2165-5042delGAGCTTACATTCTGG		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309280	GTATTATA others(8): Show GTATTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(81): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG03490.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19001.hp2 NA19009.hp1 NA19011.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19080.hp2 NA19081.hp2 NA20752.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0012 a0022	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0018 a0001c0046 a0002c0008 a0004c0011 a0004c0039 a0006c0021 a0012c0044 a0022c0051	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(47): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0027 a0001c0001t0110 a0001c0002t0001 a0001c0002t0007 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0018 a0001c0002t0026 a0001c0002t0040 a0001c0002t0049 a0001c0002t0070 a0001c0002t0074 a0001c0002t0080 a0001c0002t0094 a0001c0002t0123 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0020 a0001c0004t0007 a0001c0004t0012 a0001c0004t0013 a0001c0004t0018 a0001c0005t0002 a0001c0005t0019 a0001c0005t0047 a0001c0005t0068 a0001c0006t0007 a0001c0006t0012 a0001c0006t0013 a0001c0006t0026 a0001c0009t0007 a0001c0013t0018 a0001c0018t0002 a0001c0018t0006 a0001c0046t0006 a0002c0008t0059 a0004c0011t0007 a0004c0011t0013 a0004c0039t0002 a0006c0021t0119 a0012c0044t0019 a0022c0051t0018	a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0117 others(81): Show a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0002g0130 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0004g0078 a0001c0001t0006g0006 a0001c0001t0006g0248 a0001c0001t0006g0255 a0001c0001t0006g0286 a0001c0001t0006g0298 a0001c0001t0006g0313 a0001c0001t0006g0321 a0001c0001t0019g0166 a0001c0001t0027g0301 a0001c0001t0110g0324 a0001c0002t0001g0145 a0001c0002t0007g0110 a0001c0002t0007g0113 a0001c0002t0007g0173 a0001c0002t0007g0175 a0001c0002t0012g0221 a0001c0002t0012g0295 a0001c0002t0013g0282 a0001c0002t0016g0148 a0001c0002t0018g0265 a0001c0002t0026g0063 a0001c0002t0026g0206 a0001c0002t0040g0077 a0001c0002t0040g0183 a0001c0002t0049g0226 a0001c0002t0070g0184 a0001c0002t0074g0191 a0001c0002t0080g0208 a0001c0002t0094g0112 a0001c0002t0123g0234 a0001c0003t0002g0062 a0001c0003t0002g0127 a0001c0003t0002g0165 a0001c0003t0003g0236 a0001c0003t0003g0262 a0001c0003t0004g0163 a0001c0003t0006g0267 a0001c0003t0006g0320 a0001c0003t0020g0047 a0001c0004t0007g0084 a0001c0004t0007g0157 a0001c0004t0007g0171 a0001c0004t0012g0254 a0001c0004t0013g0305 a0001c0004t0013g0343 a0001c0004t0018g0276 a0001c0005t0002g0089 a0001c0005t0019g0041 a0001c0005t0019g0126 a0001c0005t0047g0216 a0001c0005t0047g0317 a0001c0005t0068g0172 a0001c0006t0007g0143 a0001c0006t0012g0279 a0001c0006t0012g0308 a0001c0006t0012g0310 a0001c0006t0013g0285 a0001c0006t0013g0306 a0001c0006t0026g0135 a0001c0009t0007g0115 a0001c0013t0018g0355 a0001c0018t0002g0159 a0001c0018t0006g0243 a0001c0046t0006g0005 a0002c0008t0059g0050 a0004c0011t0007g0123 a0004c0011t0007g0180 a0004c0011t0013g0346 a0004c0039t0002g0043 a0006c0021t0119g0266 a0012c0044t0019g0108 a0022c0051t0018g0311	84	354	0.2373	-15	c.65 others(26): Show c.6508_*6522delTATTATATATATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding					2212		chr13	TogoVar
SPATA16_chr3_172884357_173146235	173088008	GTCTTTCT others(8): Show GTCTTTCTTTCTTTCT	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0153 a0003c0003t0001g0153	1	89	0.0112	-15	c.612 others(34): Show c.612+29097_612+29111delAGAAAGAAAGAAAGA		SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10						chr3	TogoVar
SPATA16_chr3_172884357_173146235	173088065	TCTTTCTT others(8): Show TCTTTCTTTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02698.hp1 others(5): Show HG01109.hp1 HG01261.hp2 HG02698.hp1 HG03579.hp2 HG03710.hp1 HG04204.hp1 NA18981.hp2 NA19065.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0007 others(2): Show a0002c0002 a0003c0003 a0003c0007 a0003c0012 a0004c0008	a0002c0002t0001 a0003c0003t0001 a0003c0007t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0007t0001 a0003c0012t0001 a0004c0008t0001	a0002c0002t0001g0141 a0003c0003t0001g0042 a0003c0003t0001g0156 others(5): Show a0002c0002t0001g0141 a0003c0003t0001g0042 a0003c0003t0001g0156 a0003c0003t0001g0161 a0003c0003t0001g0166 a0003c0007t0001g0159 a0003c0012t0001g0160 a0004c0008t0001g0172	8	198	0.0404	-15	c.612 others(34): Show c.612+29040_612+29054delCAGAAAGAAAGAAAG		SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10						chr3	TogoVar
SPATA17_chr1_217626344_217876696	217727247	CAATAATA others(8): Show CAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0035 a0001c0001t0020 a0001c0001t0035	a0001c0001t0020g0094 a0001c0001t0035g0085 a0001c0001t0020g0094 a0001c0001t0035g0085	2	90	0.0222	-15	c.396 others(34): Show c.396-14701_396-14687delTAATAATAATAATAA		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786750	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02615.hp2 others(6): Show HG01109.hp2 HG02109.hp1 HG02615.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0024 a0001c0001t0036 a0001c0004t0005	a0001c0001t0001g0121 a0001c0001t0001g0148 a0001c0001t0001g0190 others(6): Show a0001c0001t0001g0121 a0001c0001t0001g0148 a0001c0001t0001g0190 a0001c0001t0005g0120 a0001c0001t0008g0189 a0001c0001t0012g0188 a0001c0001t0024g0040 a0001c0001t0036g0187 a0001c0004t0005g0250	9	44	0.2045	-15	c.872 others(32): Show c.872+4477_872+4491delTTCTTCTTCTTCTTC		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA1_chr1_84501386_84572379	84548750	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00609.hp1 HG00621.hp2 others(30): Show HG00280.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01993.hp1 HG02109.hp1 HG02300.hp1 HG02451.hp1 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02976.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04228.hp1 NA18980.hp1 NA18994.hp1 NA19077.hp1 NA19090.hp1 NA21309.hp2	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0005c0007 a0007c0009 a0002c0002 a0005c0007 a0007c0009	a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 others(3): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0012 a0005c0007t0001 a0007c0009t0012	a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0098 others(28): Show a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0108 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0145 a0002c0002t0003g0148 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0006g0064 a0002c0002t0006g0065 a0002c0002t0006g0086 a0002c0002t0007g0107 a0002c0002t0012g0084 a0005c0007t0001g0040 a0007c0009t0012g0085	33	49	0.6735	-15	c.947 others(27): Show c.947-19_947-5delTTTTTTTTTTTTTTT		SPATA1	ENSG00000122432.19	transcript	ENST00000699524.1	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA1_chr1_84501386_84572379	84560098	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0111 a0001c0003t0003g0111	1	288	0.0035	-15	c.129 others(34): Show c.1294+4122_1294+4136delGAAAGAAAGAAAGAA		SPATA1	ENSG00000122432.19	transcript	ENST00000699524.1	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3435327	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA19000.hp1 NA19057.hp2 NA18949.hp2 NA19000.hp1 NA19057.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0024 a0003c0003t0001g0099 a0003c0003t0001g0104 a0003c0003t0001g0024 a0003c0003t0001g0099 a0003c0003t0001g0104	3	40	0.0750	-15	c.48 others(26): Show c.4805_*4819delAAAAAAAAAAAAAAA		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding					4691		chr17	TogoVar
SPATA31A1_chr9_39350669_39366962	39356543	CATTTTAT others(8): Show CATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0009 a0012 a0014 a0019 a0020 a0025 a0026 a0027 a0028 a0037 a0039 a0040 a0041 a0042	a0001c0001 a0001c0003 a0001c0005 others(27): Show a0001c0001 a0001c0003 a0001c0005 a0001c0023 a0001c0025 a0001c0041 a0001c0058 a0001c0059 a0001c0060 a0002c0002 a0002c0007 a0002c0018 a0002c0039 a0002c0063 a0003c0004 a0004c0006 a0009c0062 a0012c0019 a0014c0052 a0019c0027 a0020c0016 a0025c0046 a0026c0032 a0027c0053 a0028c0051 a0037c0064 a0039c0038 a0040c0031 a0041c0040 a0042c0033	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(31): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0023t0001 a0001c0025t0001 a0001c0041t0002 a0001c0058t0001 a0001c0059t0001 a0001c0060t0002 a0002c0002t0001 a0002c0007t0001 a0002c0018t0002 a0002c0039t0001 a0002c0063t0001 a0003c0004t0001 a0004c0006t0001 a0009c0062t0001 a0012c0019t0001 a0012c0019t0004 a0014c0052t0002 a0019c0027t0001 a0020c0016t0001 a0025c0046t0001 a0026c0032t0001 a0027c0053t0001 a0028c0051t0002 a0037c0064t0001 a0039c0038t0001 a0040c0031t0001 a0041c0040t0001 a0042c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(49): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0006g0001 a0001c0001t0008g0001 a0001c0003t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0032 a0001c0003t0002g0001 a0001c0003t0002g0005 a0001c0003t0002g0012 a0001c0003t0002g0014 a0001c0003t0002g0030 a0001c0005t0002g0004 a0001c0023t0001g0001 a0001c0025t0001g0001 a0001c0041t0002g0008 a0001c0058t0001g0001 a0001c0059t0001g0001 a0001c0060t0002g0005 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0035 a0002c0002t0001g0046 a0002c0007t0001g0009 a0002c0018t0002g0004 a0002c0039t0001g0001 a0002c0063t0001g0001 a0003c0004t0001g0006 a0004c0006t0001g0003 a0009c0062t0001g0001 a0012c0019t0001g0005 a0012c0019t0004g0001 a0014c0052t0002g0004 a0019c0027t0001g0001 a0020c0016t0001g0001 a0025c0046t0001g0008 a0026c0032t0001g0001 a0027c0053t0001g0001 a0028c0051t0002g0018 a0037c0064t0001g0001 a0039c0038t0001g0001 a0040c0031t0001g0001 a0041c0040t0001g0001 a0042c0033t0001g0001	226	245	0.9224	-15	c.190 others(30): Show c.190-538_190-524delATTTTATTTTATTTT		SPATA31A1	ENSG00000204849.10	transcript	ENST00000377647.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31A3_chr9_66981304_66997550	66991011	AGTCAGTT others(8): Show AGTCAGTTCCCTTCGG	A A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0043 a0043	a0043c0059 a0043c0059	a0043c0059t0001 a0043c0059t0001	a0043c0059t0001g0139 a0043c0059t0001g0139	1	406	0.0025	-15	c.247 others(28): Show c.247+48_247+62delCCGAAGGGAACTGAC		SPATA31A3	ENSG00000275969.3	transcript	ENST00000428649.5	protein_coding	2/3						chr9	TogoVar
SPATA31A3_chr9_66981304_66997550	66991654	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19081.hp2 NA18944.hp1 NA19081.hp2	a0001 a0046 a0001 a0046	a0001c0001 a0046c0040 a0001c0001 a0046c0040	a0001c0001t0001 a0046c0040t0001 a0001c0001t0001 a0046c0040t0001	a0001c0001t0001g0131 a0046c0040t0001g0114 a0001c0001t0001g0131 a0046c0040t0001g0114	2	153	0.0131	-15	c.190 others(30): Show c.190-538_190-524delATTTTATTTTATTTT		SPATA31A3	ENSG00000275969.3	transcript	ENST00000428649.5	protein_coding	1/3						chr9	TogoVar
SPATA31A6_chr9_42178659_42194887	42184503	GTTATTTT others(8): Show GTTATTTTATTTTATT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0032 a0032	a0032c0019 a0032c0019	a0032c0019t0006 a0032c0019t0006	a0032c0019t0006g0025 a0032c0019t0006g0025	1	51	0.0196	-15	c.190 others(30): Show c.190-538_190-524delATTTTATTTTATTTT		SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31A7_chr9_61185036_61201280	61190848	GTATTTTT others(8): Show GTATTTTTATTTTATT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0064 a0017c0020t0001g0064	1	223	0.0045	-15	c.189 others(30): Show c.189+597_190-589delATTTTTATTTTATTT		SPATA31A7	ENSG00000276040.5	transcript	ENST00000619167.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31A7_chr9_61185036_61201280	61190875	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0028 a0028	a0028c0048 a0028c0048	a0028c0048t0003 a0028c0048t0003	a0028c0048t0003g0027 a0028c0048t0003g0027	1	117	0.0085	-15	c.190 others(30): Show c.190-538_190-524delATTTTATTTTATTTT		SPATA31A7	ENSG00000276040.5	transcript	ENST00000619167.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88133864	GGGTGCAG others(8): Show GGGTGCAGTGGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03491.hp2 HG03492.hp2 HG02683.hp2 HG03491.hp2 HG03492.hp2	a0020 a0027 a0020 a0027	a0020c0022 a0027c0049 a0020c0022 a0027c0049	a0020c0022t0003 a0027c0049t0003 a0020c0022t0003 a0027c0049t0003	a0020c0022t0003g0035 a0027c0049t0003g0102 a0020c0022t0003g0035 a0027c0049t0003g0102	3	444	0.0068	-15	c.190 others(30): Show c.190-210_190-196delGTGAGCCACTGCACC		SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3						chr9	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp2 NA18948.hp1 others(2): Show HG02129.hp1 HG02132.hp2 NA18948.hp1 NA18948.hp2 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0007 a0001c0001t0001 a0003c0003t0007	a0001c0001t0001g0021 a0003c0003t0007g0064 a0001c0001t0001g0021 a0003c0003t0007g0064	5	68	0.0735	-15	c.293 others(28): Show c.293+71_293+85delTTTTTTTTTTTTTTT		SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA5_chr4_122918078_123324433	123311625	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01109.hp1 others(32): Show HG00099.hp2 HG01071.hp2 HG01109.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG02165.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18990.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0042 a0001c0001t0073 a0001c0001t0074 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0048 a0003c0003t0021 a0003c0003t0041 a0003c0003t0054	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 others(32): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0127 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0020 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0239 a0001c0001t0006g0240 a0001c0001t0015g0181 a0001c0001t0042g0172 a0001c0001t0073g0076 a0001c0001t0074g0260 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0003g0152 a0002c0002t0003g0161 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0007g0166 a0002c0002t0048g0157 a0003c0003t0021g0009 a0003c0003t0021g0013 a0003c0003t0041g0006 a0003c0003t0054g0012	35	84	0.4167	-15	c.250 others(34): Show c.2506-2246_2506-2232delAAAAAAAAAAAAAAA		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATS2L_chr2_200301693_200487264	200421830	GCTTTCAC others(8): Show GCTTTCACATGAATTA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp2 NA19240.hp1 HG03516.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0075 a0001c0001t0008 a0001c0001t0018 a0001c0001t0075	a0001c0001t0008g0067 a0001c0001t0018g0072 a0001c0001t0075g0029 a0001c0001t0008g0067 a0001c0001t0018g0072 a0001c0001t0075g0029	3	298	0.0101	-15	c.445 others(32): Show c.445+2341_445+2355delCATGAATTACTTTCA		SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr2	TogoVar

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