Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02895.hp1 NA19067.hp1 HG01243.hp2 HG02895.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0045 a0001c0004t0010 a0001c0006t0089 a0001c0001t0045 a0001c0004t0010 a0001c0006t0089	a0001c0001t0045g0018 a0001c0004t0010g0263 a0001c0006t0089g0037 a0001c0001t0045g0018 a0001c0004t0010g0263 a0001c0006t0089g0037	3	93	0.0323	22	c.65 others(33): Show c.6510_*6511insTATATATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172959787	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02896.hp1 others(1): Show HG02572.hp2 HG02895.hp2 HG02896.hp1 HG03471.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0005 a0004c0006 a0002c0002 a0002c0005 a0004c0006	a0002c0002t0001 a0002c0005t0001 a0004c0006t0001 a0002c0002t0001 a0002c0005t0001 a0004c0006t0001	a0002c0002t0001g0113 a0002c0005t0001g0063 a0004c0006t0001g0101 others(1): Show a0002c0002t0001g0113 a0002c0005t0001g0063 a0004c0006t0001g0101 a0004c0006t0001g0177	4	41	0.0976	22	c.934 others(39): Show c.934-2985_934-2964dupATATATATATATATATATATAT	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217732084	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp1 HG01074.hp2 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0053 a0001c0004t0001 a0001c0004t0053	a0001c0004t0001g0219 a0001c0004t0053g0239 a0001c0004t0001g0219 a0001c0004t0053g0239	2	203	0.0099	22	c.396 others(39): Show c.396-9889_396-9868dupCTCTCTCTCTCTCTCTCTCTCT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	20	0.0500	22	c.519 others(39): Show c.519+7893_519+7914dupATATATATATATATATATATAT	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(15): Show CTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19003.hp1 HG02896.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0014 a0001c0003t0001 a0001c0003t0014	a0001c0003t0001g0231 a0001c0003t0014g0230 a0001c0003t0001g0231 a0001c0003t0014g0230	2	21	0.0952	22	c.519 others(39): Show c.519+7888_519+7889insCTATATATATATATATATATAT	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(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18959.hp2 NA18990.hp1 HG03688.hp2 NA18959.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0003t0003 a0001c0001t0001 a0001c0001t0010 a0001c0003t0003	a0001c0001t0001g0037 a0001c0001t0010g0043 a0001c0003t0003g0226 a0001c0001t0001g0037 a0001c0001t0010g0043 a0001c0003t0003g0226	3	22	0.1364	22	c.519 others(39): Show c.519+7888_519+7889insCTCTCTCTATATATATATATAT	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(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03453.hp2 HG02896.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0084 a0001c0001t0015g0093 a0001c0001t0005g0084 a0001c0001t0015g0093	2	21	0.0952	22	c.519 others(39): Show c.519+7888_519+7889insCTCTCTCTCTATATATATATAT	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(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01952.hp1 others(7): Show HG00438.hp2 HG00642.hp2 HG01952.hp1 HG02083.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp2 HG02886.hp1 HG03239.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0057 a0001c0001t0058	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0173 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0173 a0001c0001t0001g0197 a0001c0001t0002g0101 a0001c0001t0002g0176 a0001c0001t0004g0054 a0001c0001t0023g0053 a0001c0001t0057g0200 a0001c0001t0058g0150	10	34	0.2941	22	c.520 others(39): Show c.520-3347_520-3326dupTTTTTTTTTTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA21_chr1_16393643_16442424	16426579	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	282	0.0035	22	c.35- others(37): Show c.35-4609_35-4608insAATATATATATATATATATATA	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	3/12			chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG03139.hp2 HG01243.hp1 HG02630.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0116 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0116	3	118	0.0254	22	c.329 others(39): Show c.329+3606_329+3627dupTTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31C2_chr9_88124305_88143475	88134448	A A	ACAGAGAC others(15): Show ACAGAGACCTCCCATCTCATGAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0076 a0003c0004t0002g0076	1	354	0.0028	22	c.190 others(37): Show c.190-780_190-779insGTCATGAGATGGGAGGTCTCTG	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3			chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88134448	A A	ACAGAGAC others(15): Show ACAGAGACCTCCCGTCTCATGAC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0072 a0008c0011t0002g0072	1	354	0.0028	22	c.190 others(37): Show c.190-780_190-779insGTCATGAGACGGGAGGTCTCTG	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3			chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01070.hp2 others(26): Show HG00099.hp2 HG00140.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp1 HG01993.hp2 HG02155.hp1 HG02698.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG03834.hp2 HG04199.hp2 NA18612.hp2 NA19004.hp1 NA19074.hp1 NA19074.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0083 a0004c0004t0001g0004	29	65	0.4462	22	c.293 others(35): Show c.293+44_293+65dupTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA45_chr1_212825141_212852649	212826759	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	120	0.0083	22	c.34 others(33): Show c.3482_*3483insTTTTTTTTTTTTTTTTTTTTTT	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding		3381		chr1	TogoVar
SPATA48_chr7_50090883_50164256	50125115	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03704.hp2 HG02135.hp1 HG03704.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0007 a0002c0005 a0004c0007	a0002c0005t0001 a0004c0007t0001 a0002c0005t0001 a0004c0007t0001	a0002c0005t0001g0303 a0004c0007t0001g0301 a0002c0005t0001g0303 a0004c0007t0001g0301	2	143	0.0140	22	c.652 others(39): Show c.652-4601_652-4600insTATATATATATACACACACACA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50125115	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0304 a0004c0007t0001g0304	1	142	0.0070	22	c.652 others(39): Show c.652-4601_652-4600insTATATATATATATACACACACA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50125115	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0307 a0002c0005t0001g0307	1	142	0.0070	22	c.652 others(39): Show c.652-4601_652-4600insTATATATATATATATATACACA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50145614	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	134	0.0075	22	c.108 others(41): Show c.1085+4227_1085+4228insATATATATATATATATATATAT	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	122992978	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(50): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00733.hp2 HG01071.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01516.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp2 HG03017.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18940.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18990.hp2 NA19003.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA20300.hp1 NA20805.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0005 a0007c0011 others(1): Show a0001c0001 a0001c0005 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0047 a0001c0001t0059 a0001c0001t0060 a0001c0001t0064 a0001c0001t0072 a0001c0005t0002 a0007c0011t0002 a0008c0010t0002	a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0062 others(50): Show a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0004g0102 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0070 a0001c0001t0023g0028 a0001c0001t0024g0067 a0001c0001t0027g0024 a0001c0001t0047g0029 a0001c0001t0059g0081 a0001c0001t0060g0046 a0001c0001t0064g0063 a0001c0001t0072g0019 a0001c0005t0002g0058 a0007c0011t0002g0018 a0008c0010t0002g0035	53	119	0.4454	22	c.186 others(43): Show c.1869+13607_1869+13608insGTGTGTATGTGTGTGTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4600483	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00738.hp2 others(19): Show HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01496.hp2 HG01928.hp2 HG01981.hp1 HG02293.hp1 HG02615.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18942.hp1 NA18943.hp2 NA18967.hp1 NA19067.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0001 a0008c0020 a0011c0018 a0001c0001 a0008c0020 a0011c0018	a0001c0001t0006 a0001c0001t0029 a0001c0001t0035 others(2): Show a0001c0001t0006 a0001c0001t0029 a0001c0001t0035 a0008c0020t0006 a0011c0018t0042	a0001c0001t0006g0002 a0001c0001t0006g0031 a0001c0001t0006g0054 others(18): Show a0001c0001t0006g0002 a0001c0001t0006g0031 a0001c0001t0006g0054 a0001c0001t0006g0061 a0001c0001t0006g0113 a0001c0001t0006g0132 a0001c0001t0006g0137 a0001c0001t0006g0195 a0001c0001t0006g0211 a0001c0001t0006g0237 a0001c0001t0006g0243 a0001c0001t0006g0266 a0001c0001t0006g0284 a0001c0001t0006g0290 a0001c0001t0006g0306 a0001c0001t0029g0324 a0001c0001t0029g0329 a0001c0001t0035g0352 a0001c0001t0035g0394 a0008c0020t0006g0340 a0011c0018t0042g0157	22	242	0.0909	22	c.32 others(31): Show c.327_*328insCTCTCTCTCTCTCTCTCTCTCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	12/12	3696		chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00673.hp1 others(41): Show HG00099.hp2 HG00558.hp1 HG00673.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02071.hp2 HG02135.hp1 HG02165.hp2 HG02738.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18988.hp1 NA19004.hp1 NA19005.hp2 NA19012.hp1 NA19057.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0025 a0001c0001t0026 a0001c0004t0008 a0001c0004t0021 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0034 a0003c0003t0005	a0001c0001t0001g0336 a0001c0001t0002g0308 a0001c0001t0002g0325 others(40): Show a0001c0001t0001g0336 a0001c0001t0002g0308 a0001c0001t0002g0325 a0001c0001t0003g0025 a0001c0001t0006g0031 a0001c0001t0006g0195 a0001c0001t0025g0288 a0001c0001t0026g0392 a0001c0004t0008g0051 a0001c0004t0008g0116 a0001c0004t0008g0275 a0001c0004t0008g0292 a0001c0004t0008g0297 a0001c0004t0021g0346 a0001c0004t0021g0347 a0001c0004t0021g0348 a0002c0002t0001g0207 a0002c0002t0003g0007 a0002c0002t0003g0142 a0002c0002t0003g0196 a0002c0002t0003g0216 a0002c0002t0003g0331 a0002c0002t0004g0109 a0002c0002t0004g0111 a0002c0002t0004g0317 a0002c0002t0007g0364 a0002c0002t0007g0377 a0002c0002t0007g0383 a0002c0002t0007g0396 a0002c0002t0009g0353 a0002c0002t0009g0354 a0002c0002t0009g0363 a0002c0002t0009g0366 a0002c0002t0009g0367 a0002c0002t0009g0373 a0002c0002t0034g0131 a0003c0003t0005g0071 a0003c0003t0005g0072 a0003c0003t0005g0074 a0003c0003t0005g0133 a0003c0003t0005g0136 a0003c0003t0005g0182 a0003c0003t0005g0322	44	170	0.2588	22	c.352 others(37): Show c.352-602_352-601insTATATATATATATACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4629769	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0068 a0003c0003t0005g0068	1	127	0.0079	22	c.352 others(37): Show c.352-602_352-601insTATATATATATACACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	4/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48428775	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	254	0.0039	22	c.239 others(41): Show c.239-15646_239-15625dupCACACACACACACACACACACA	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	3/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46172136	T T	TGAGGCCG others(15): Show TGAGGCCGGGGTATGCAAAGCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01109.hp1 others(17): Show HG00323.hp1 HG00597.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG02109.hp1 HG02523.hp1 HG02738.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03942.hp1 HG04199.hp2 NA19004.hp1 NA19065.hp2 NA19076.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0020 a0003c0004t0005 others(5): Show a0001c0001t0001 a0001c0001t0020 a0003c0004t0005 a0003c0004t0026 a0003c0004t0027 a0004c0005t0005 a0004c0005t0013 a0004c0005t0019	a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0154 others(16): Show a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0020g0024 a0003c0004t0005g0020 a0003c0004t0005g0101 a0003c0004t0005g0151 a0003c0004t0005g0152 a0003c0004t0026g0153 a0003c0004t0027g0149 a0004c0005t0005g0092 a0004c0005t0005g0093 a0004c0005t0013g0184 a0004c0005t0019g0175 a0004c0005t0019g0176	20	83	0.2410	22	c.194 others(39): Show c.194-3479_194-3478insGTGCTTTGCATACCCCGGCCTC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46174332	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0162 a0004c0005t0007g0162	1	244	0.0041	22	c.194 others(39): Show c.194-5675_194-5674insTTTTTTTTTTTTTTTTTTTTTT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18969.hp1 HG02615.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0070 a0001c0001t0005 a0001c0002t0070	a0001c0001t0005g0254 a0001c0002t0070g0147 a0001c0001t0005g0254 a0001c0002t0070g0147	2	136	0.0147	22	c.39+ others(37): Show c.39+6751_39+6752insAAAAAAAAAAAATATATATATA	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(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18747.hp1 HG03710.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0193 a0001c0001t0003g0082 a0001c0001t0002g0193 a0001c0001t0003g0082	2	136	0.0147	22	c.39+ others(37): Show c.39+6751_39+6752insAAAAAAAAAATATATATATATA	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(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0139 a0001c0001t0071g0139	1	135	0.0074	22	c.39+ others(37): Show c.39+6751_39+6752insAAAAAAAATATATATATATATA	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(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0191 a0001c0001t0007g0191	1	135	0.0074	22	c.39+ others(37): Show c.39+6751_39+6752insAAAAAATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	135	0.0074	22	c.39+ others(37): Show c.39+6751_39+6752insAAAATATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp1 HG03654.hp1 others(17): Show HG00639.hp1 HG01978.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp2 NA18747.hp2 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA19004.hp1 NA19060.hp2 NA19064.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0022 a0001c0001t0033 a0001c0001t0037 a0001c0001t0046 a0001c0001t0060 a0001c0003t0001 a0001c0003t0028	a0001c0001t0001g0265 a0001c0001t0002g0180 a0001c0001t0002g0181 others(17): Show a0001c0001t0001g0265 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0246 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0047 a0001c0001t0004g0083 a0001c0001t0011g0299 a0001c0001t0022g0263 a0001c0001t0022g0264 a0001c0001t0022g0267 a0001c0001t0033g0025 a0001c0001t0033g0038 a0001c0001t0037g0064 a0001c0001t0046g0290 a0001c0001t0060g0022 a0001c0003t0001g0250 a0001c0003t0028g0210	20	46	0.4348	22	c.957 others(37): Show c.957+959_957+980dupACACACACACACACACACACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200468378	A A	ACACACAC others(15): Show ACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	298	0.0034	22	c.957 others(37): Show c.957+980_957+981insACACACACACACACACACACGC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49498145	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	26	0.0385	22	c.703 others(39): Show c.703+1137_703+1138insAATATATATATATATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49516204	T T	TATATATA others(15): Show TATATATATATATATAAAAATAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	61	0.0164	22	c.898 others(39): Show c.898+1596_898+1597insTATATATATAAAAATAAATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02630.hp2 NA18942.hp2 others(3): Show HG02559.hp2 HG02630.hp2 NA18942.hp2 NA18994.hp1 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0050 a0001c0001t0120 others(1): Show a0001c0001t0036 a0001c0001t0050 a0001c0001t0120 a0001c0001t0123	a0001c0001t0036g0279 a0001c0001t0036g0290 a0001c0001t0050g0028 others(2): Show a0001c0001t0036g0279 a0001c0001t0036g0290 a0001c0001t0050g0028 a0001c0001t0120g0074 a0001c0001t0123g0280	6	81	0.0741	22	c.71 others(31): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPC24_chr19_11140493_11160782	11160188	A A	AAATTGAG others(15): Show AAATTGAGACCTCTGCCAAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	22	c.-44 others(33): Show c.-4413_-4412insCTGCTTGGCAGAGGTCTCAATT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding		4407		chr19	TogoVar
SPC25_chr2_168865891_168895430	168889060	T T	TATATATA others(15): Show TATATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	356	0.0028	22	c.199 others(37): Show c.199+144_199+165dupGTATATATATGTGTATATATAT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG01167.hp1 others(22): Show HG00423.hp1 HG00733.hp2 HG01167.hp1 HG01175.hp2 HG02559.hp2 HG02735.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA18951.hp2 NA18960.hp2 NA18984.hp2 NA18987.hp2 NA19054.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0003g0073 a0001c0001t0004g0002 a0001c0001t0005g0002 a0001c0001t0006g0278 a0001c0001t0006g0281 a0001c0001t0009g0030 a0001c0002t0001g0052	25	58	0.4310	22	c.114 others(39): Show c.114+6467_114+6488dupATATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYA_chr2_28805834_28855610	28823702	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	60	0.0167	22	c.380 others(39): Show c.380+1314_380+1335dupTATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(15): Show CTTTTTTTTCTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp1 HG01257.hp1 others(7): Show HG00673.hp2 HG00738.hp1 HG01257.hp1 HG01361.hp1 HG01952.hp1 HG02040.hp1 HG02148.hp1 NA18966.hp1 NA19002.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0014 a0002c0004 a0001c0002 a0001c0014 a0002c0004	a0001c0002t0001 a0001c0014t0001 a0002c0004t0001 others(1): Show a0001c0002t0001 a0001c0014t0001 a0002c0004t0001 a0002c0004t0004	a0001c0002t0001g0003 a0001c0002t0001g0080 a0001c0002t0001g0083 others(7): Show a0001c0002t0001g0003 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0112 a0001c0014t0001g0091 a0002c0004t0001g0087 a0002c0004t0001g0116 a0002c0004t0004g0069	10	94	0.1064	22	c.130 others(37): Show c.130+368_130+369insAAAAAAAAAAGAAGAAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	17	0.0588	22	c.-63 others(41): Show c.-639-8268_-639-8247dupAGAGAGAGAGAGAGAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	195	0.0051	22	c.-63 others(43): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134537	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG00738.hp2 others(23): Show HG00621.hp1 HG00733.hp2 HG00738.hp2 HG01175.hp2 HG01256.hp2 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02132.hp2 HG02572.hp2 HG02602.hp2 HG02698.hp1 HG03710.hp1 NA18945.hp1 NA18950.hp2 NA18971.hp1 NA18977.hp1 NA18986.hp1 NA18989.hp2 NA19002.hp2 NA19012.hp2 NA19062.hp1 NA19068.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0006 a0007c0013 a0009c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 a0002c0003t0002 a0003c0006t0008 a0007c0013t0022 a0009c0010t0001	a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0035 others(23): Show a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0170 a0001c0001t0002g0201 a0001c0001t0003g0026 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0177 a0001c0001t0003g0185 a0001c0001t0003g0204 a0001c0001t0004g0033 a0001c0001t0006g0006 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0100 a0001c0002t0001g0112 a0001c0005t0001g0001 a0001c0005t0001g0101 a0001c0005t0002g0036 a0002c0003t0002g0163 a0003c0006t0008g0126 a0007c0013t0022g0007 a0009c0010t0001g0065	26	34	0.7647	22	c.-63 others(43): Show c.-639-18996_-639-18995insCTTTCTTTCTTTCTTTCTTTCT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE12_chr7_74899289_74920078	74912770	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	8	0.1250	22	c.130 others(37): Show c.130+359_130+380dupAAAAAAAAAAAAAAAAAAAAAA	SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding	2/7			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTGTTG others(15): Show TTTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	178	0.0056	22	c.380 others(37): Show c.380-266_380-265insCAACAACAACAACAACAACAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(15): Show TTTTTTTTTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	178	0.0056	22	c.380 others(37): Show c.380-266_380-265insCAACAACAACAACAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp2 HG03540.hp1 NA19030.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0013 a0005c0005t0013	a0005c0005t0013g0139 a0005c0005t0013g0140 a0005c0005t0013g0139 a0005c0005t0013g0140	2	179	0.0112	22	c.380 others(37): Show c.380-266_380-265insCAACAACAAAAAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994386	A A	AAAAGAAA others(15): Show AAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	369	0.0027	22	c.-39 others(33): Show c.-3996_-3995insAAAGAAAGAAAGAAAGAAAGAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3510		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994388	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01975.hp1 HG03927.hp1 others(1): Show HG01496.hp1 HG01975.hp1 HG03927.hp1 NA18971.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0014 a0003c0003 a0010c0014	a0003c0003t0003 a0010c0014t0003 a0003c0003t0003 a0010c0014t0003	a0003c0003t0003g0004 a0003c0003t0003g0044 a0010c0014t0003g0004 a0003c0003t0003g0004 a0003c0003t0003g0044 a0010c0014t0003g0004	4	383	0.0104	22	c.-39 others(33): Show c.-3994_-3993insAGAAAGAAAGAAAGAAAGAAAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3508		chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43995839	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18971.hp1 NA18940.hp1 NA18971.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0003 a0001c0001t0006 a0003c0003t0003	a0001c0001t0006g0029 a0003c0003t0003g0004 a0001c0001t0006g0029 a0003c0003t0003g0004	2	118	0.0169	22	c.-25 others(33): Show c.-2543_-2542insGTGTGTGTGTGTGTGTGTGTGT	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		2057		chr7	TogoVar

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