Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	121	0.0083	11	c.188 others(30): Show c.1881-5337_1881-5327dupTTTTTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX3_chrX_140497985_140510069	140505420	G G	GGGAGGGG others(4): Show GGGAGGGGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	337	0.0030	11	c.-36 others(20): Show c.-361_-360insTGCCCCCCTCC	SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding		352		chrX	TogoVar
SOX5_chr12_23524504_23954670	23577191	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01243.hp1 HG01071.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0056 a0001c0001t0044 a0001c0001t0056	a0001c0001t0044g0206 a0001c0001t0056g0142 a0001c0001t0044g0206 a0001c0001t0056g0142	2	129	0.0155	11	c.116 others(30): Show c.1165-1354_1165-1353insAAATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01169.hp2 others(4): Show HG00738.hp1 HG00738.hp2 HG01169.hp2 HG01516.hp1 HG04115.hp1 HG04184.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0023 a0001c0001t0032 others(4): Show a0001c0001t0017 a0001c0001t0023 a0001c0001t0032 a0001c0001t0067 a0001c0001t0094 a0001c0001t0107 a0001c0002t0050	a0001c0001t0017g0028 a0001c0001t0023g0026 a0001c0001t0032g0141 others(4): Show a0001c0001t0017g0028 a0001c0001t0023g0026 a0001c0001t0032g0141 a0001c0001t0067g0051 a0001c0001t0094g0133 a0001c0001t0107g0211 a0001c0002t0050g0212	7	18	0.3889	11	c.116 others(30): Show c.1165-2290_1165-2280dupTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23652517	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0205 a0001c0001t0008g0205	1	62	0.0161	11	c.932 others(30): Show c.932-11631_932-11621dupAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	7/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01993.hp1 others(13): Show HG00639.hp2 HG01074.hp1 HG01993.hp1 HG02083.hp1 HG02109.hp1 HG02165.hp2 HG02559.hp2 HG02818.hp1 HG03017.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(11): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0075 a0001c0001t0086 a0001c0001t0096 a0001c0001t0097 a0001c0002t0005 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052	a0001c0001t0004g0210 a0001c0001t0007g0023 a0001c0001t0009g0017 others(13): Show a0001c0001t0004g0210 a0001c0001t0007g0023 a0001c0001t0009g0017 a0001c0001t0010g0003 a0001c0001t0010g0173 a0001c0001t0010g0184 a0001c0001t0016g0147 a0001c0001t0018g0022 a0001c0001t0075g0073 a0001c0001t0086g0024 a0001c0001t0096g0074 a0001c0001t0097g0062 a0001c0002t0005g0180 a0001c0002t0050g0212 a0001c0002t0051g0070 a0001c0002t0052g0124	16	20	0.8000	11	c.811 others(28): Show c.811-8783_811-8773dupAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23695940	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0031 a0001c0001t0031g0031	1	80	0.0125	11	c.811 others(30): Show c.811-30387_811-30377dupTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03491.hp2 NA18959.hp1 others(1): Show HG02559.hp2 HG03491.hp2 NA18959.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0030 a0001c0001t0096 others(1): Show a0001c0001t0011 a0001c0001t0030 a0001c0001t0096 a0001c0002t0005	a0001c0001t0011g0144 a0001c0001t0030g0040 a0001c0001t0096g0074 others(1): Show a0001c0001t0011g0144 a0001c0001t0030g0040 a0001c0001t0096g0074 a0001c0002t0005g0101	4	17	0.2353	11	c.482 others(30): Show c.482-36909_482-36899dupTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23843554	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18994.hp2 NA19005.hp1 others(1): Show HG04184.hp2 NA18994.hp2 NA19005.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0024 a0001c0001t0035 others(1): Show a0001c0001t0017 a0001c0001t0024 a0001c0001t0035 a0001c0002t0005	a0001c0001t0017g0028 a0001c0001t0024g0034 a0001c0001t0035g0018 others(1): Show a0001c0001t0017g0028 a0001c0001t0024g0034 a0001c0001t0035g0018 a0001c0002t0005g0013	4	48	0.0833	11	c.481 others(28): Show c.481+2418_481+2428dupAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	15979330	T T	TACAAACC others(4): Show TACAAACCTGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03704.hp2 HG02572.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0011 a0001c0001t0031 a0001c0002t0011	a0001c0001t0031g0043 a0001c0002t0011g0152 a0001c0001t0031g0043 a0001c0002t0011g0152	2	212	0.0094	11	c.218 others(30): Show c.2184-6229_2184-6219dupTCCAGGTTTGT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	15/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16129829	C C	CACCTACA others(4): Show CACCTACAGCTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0117 a0001c0002t0033g0117	1	216	0.0046	11	c.778 others(30): Show c.778-17917_778-17907dupTAGCTGTAGGT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132322	G G	GGAAAGAA others(4): Show GGAAAGAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0060 a0001c0002t0017g0060	1	175	0.0057	11	c.778 others(30): Show c.778-20400_778-20399insTTTTTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16306613	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0188 a0002c0005t0016g0188	1	181	0.0055	11	c.445 others(30): Show c.445+11832_445+11833insGAAAAAAAAAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349759	G G	GGAAGGAA others(4): Show GGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02738.hp2 NA19003.hp1 HG00408.hp1 HG02738.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0002t0043 a0001c0001t0005 a0001c0002t0004 a0001c0002t0043	a0001c0001t0005g0186 a0001c0002t0004g0158 a0001c0002t0043g0216 a0001c0001t0005g0186 a0001c0002t0004g0158 a0001c0002t0043g0216	3	200	0.0150	11	c.-5+ others(26): Show c.-5+6334_-5+6335insTTCCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX7_chr8_10718768_10735511	10721503	G G	GTGTGATG others(4): Show GTGTGATGTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	460	0.0022	11	c.42 others(22): Show c.4234_*4235insGTGACATCACA	SOX7	ENSG00000171056.8	transcript	ENST00000304501.2	protein_coding		2264		chr8	TogoVar
SOX8_chr16_976770_991979	977925	A A	ACACACAC others(4): Show ACACACACGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0001c0019 a0001c0023 a0002c0010 a0002c0013 a0003c0007 a0005c0022 a0008c0017 a0009c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(52): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0051 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0014 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0039 a0001c0002t0040 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0016 a0001c0003t0017 a0001c0003t0025 a0001c0003t0026 a0001c0003t0046 a0001c0003t0047 a0001c0003t0048 a0001c0003t0049 a0001c0003t0050 a0001c0003t0053 a0001c0005t0018 a0001c0005t0028 a0001c0009t0054 a0001c0011t0003 a0001c0019t0008 a0001c0023t0002 a0002c0010t0004 a0002c0010t0052 a0002c0013t0002 a0002c0013t0010 a0003c0007t0002 a0003c0007t0009 a0005c0022t0002 a0008c0017t0003 a0009c0016t0005	a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0006g0006 others(73): Show a0001c0001t0001g0018 a0001c0001t0001g0046 a0001c0001t0006g0006 a0001c0001t0006g0025 a0001c0001t0015g0010 a0001c0001t0032g0006 a0001c0001t0033g0006 a0001c0001t0042g0042 a0001c0001t0051g0002 a0001c0002t0002g0002 a0001c0002t0003g0003 a0001c0002t0003g0005 a0001c0002t0003g0014 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0045 a0001c0002t0004g0003 a0001c0002t0004g0038 a0001c0002t0005g0003 a0001c0002t0008g0009 a0001c0002t0008g0020 a0001c0002t0008g0026 a0001c0002t0011g0002 a0001c0002t0011g0013 a0001c0002t0014g0003 a0001c0002t0014g0023 a0001c0002t0021g0003 a0001c0002t0022g0003 a0001c0002t0022g0021 a0001c0002t0023g0005 a0001c0002t0024g0003 a0001c0002t0034g0003 a0001c0002t0035g0044 a0001c0002t0036g0003 a0001c0002t0039g0022 a0001c0002t0040g0003 a0001c0002t0043g0003 a0001c0002t0044g0003 a0001c0002t0045g0003 a0001c0003t0002g0002 a0001c0003t0002g0004 a0001c0003t0002g0028 a0001c0003t0008g0003 a0001c0003t0008g0006 a0001c0003t0009g0002 a0001c0003t0010g0002 a0001c0003t0010g0027 a0001c0003t0016g0002 a0001c0003t0017g0004 a0001c0003t0025g0002 a0001c0003t0026g0002 a0001c0003t0046g0002 a0001c0003t0047g0002 a0001c0003t0048g0002 a0001c0003t0049g0002 a0001c0003t0050g0002 a0001c0003t0053g0002 a0001c0005t0018g0003 a0001c0005t0028g0039 a0001c0009t0054g0024 a0001c0011t0003g0019 a0001c0019t0008g0009 a0001c0023t0002g0002 a0002c0010t0004g0003 a0002c0010t0052g0002 a0002c0013t0002g0004 a0002c0013t0010g0002 a0003c0007t0002g0002 a0003c0007t0009g0002 a0005c0022t0002g0002 a0008c0017t0003g0005 a0009c0016t0005g0003	231	432	0.5347	11	c.-39 others(22): Show c.-3998_-3997insCACACACGCAC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		3844		chr16	TogoVar
SOX8_chr16_976770_991979	990248	T T	TGCGATGT others(4): Show TGCGATGTACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	11	c.48 others(22): Show c.4862_*4863insGCGATGTACTG	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		3270		chr16	TogoVar
SP100_chr2_230411201_230550606	230535906	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19043.hp1 HG03195.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0042 a0001c0003t0012g0045 a0001c0003t0012g0042 a0001c0003t0012g0045	2	71	0.0282	11	c.209 others(30): Show c.2095-3342_2095-3332dupAAAAAAAAAAA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230175945	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(64): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01978.hp2 HG02148.hp1 HG02451.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG06807.hp2 NA18612.hp1 NA18942.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18975.hp1 NA18982.hp2 NA18991.hp2 NA18992.hp2 NA18999.hp1 NA19003.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0009 a0012 a0013 a0017 a0022 a0024 a0031 a0033 a0036	a0001c0001 a0001c0007 a0002c0002 others(11): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0004c0004 a0009c0013 a0012c0024 a0013c0016 a0017c0026 a0022c0055 a0024c0046 a0031c0050 a0033c0044 a0036c0030	a0001c0001t0061 a0001c0007t0009 a0001c0007t0014 others(33): Show a0001c0001t0061 a0001c0007t0009 a0001c0007t0014 a0002c0002t0027 a0003c0003t0004 a0003c0003t0007 a0003c0003t0015 a0003c0003t0016 a0003c0003t0018 a0003c0003t0026 a0003c0003t0053 a0003c0003t0057 a0003c0003t0059 a0003c0003t0063 a0003c0003t0064 a0003c0003t0065 a0003c0003t0066 a0004c0004t0002 a0004c0004t0004 a0004c0004t0010 a0004c0004t0016 a0004c0004t0027 a0004c0004t0060 a0004c0004t0062 a0004c0004t0072 a0009c0013t0004 a0012c0024t0004 a0013c0016t0004 a0013c0016t0020 a0013c0016t0054 a0017c0026t0052 a0022c0055t0004 a0024c0046t0015 a0031c0050t0007 a0033c0044t0004 a0036c0030t0004	a0001c0001t0061g0210 a0001c0007t0009g0194 a0001c0007t0009g0206 others(55): Show a0001c0001t0061g0210 a0001c0007t0009g0194 a0001c0007t0009g0206 a0001c0007t0014g0196 a0002c0002t0027g0303 a0003c0003t0004g0006 a0003c0003t0004g0268 a0003c0003t0004g0271 a0003c0003t0004g0288 a0003c0003t0004g0353 a0003c0003t0004g0373 a0003c0003t0007g0016 a0003c0003t0007g0036 a0003c0003t0007g0088 a0003c0003t0007g0149 a0003c0003t0007g0352 a0003c0003t0007g0354 a0003c0003t0015g0017 a0003c0003t0015g0065 a0003c0003t0015g0357 a0003c0003t0016g0090 a0003c0003t0016g0133 a0003c0003t0018g0087 a0003c0003t0026g0039 a0003c0003t0053g0270 a0003c0003t0057g0375 a0003c0003t0059g0085 a0003c0003t0063g0089 a0003c0003t0064g0347 a0003c0003t0065g0348 a0003c0003t0066g0057 a0004c0004t0002g0218 a0004c0004t0004g0084 a0004c0004t0004g0214 a0004c0004t0004g0252 a0004c0004t0010g0020 a0004c0004t0010g0100 a0004c0004t0010g0105 a0004c0004t0010g0242 a0004c0004t0010g0249 a0004c0004t0010g0259 a0004c0004t0016g0273 a0004c0004t0027g0241 a0004c0004t0060g0321 a0004c0004t0062g0099 a0004c0004t0072g0260 a0009c0013t0004g0010 a0012c0024t0004g0176 a0013c0016t0004g0034 a0013c0016t0004g0121 a0013c0016t0020g0188 a0013c0016t0054g0187 a0017c0026t0052g0172 a0022c0055t0004g0346 a0024c0046t0015g0063 a0031c0050t0007g0143 a0033c0044t0004g0350 a0036c0030t0004g0178	67	352	0.1903	11	c.159 others(30): Show c.1590+1582_1590+1592dupAAAAAAAAAAA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	14/18			chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	36	0.0278	11	c.898 others(28): Show c.898+1395_898+1396insTATATATATAT	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230366710	C C	CATTATTA others(4): Show CATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp2 HG02976.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0117 a0002c0006t0001g0153 a0002c0002t0001g0117 a0002c0006t0001g0153	2	28	0.0714	11	c.524 others(28): Show c.524-4198_524-4197insATTATTATTAT	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	5/18			chr2	TogoVar
SP140_chr2_230220736_230318215	230226762	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp2 HG03491.hp1 HG02818.hp2 HG02896.hp2 HG03491.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0047 a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0047	3	108	0.0278	11	c.59+ others(24): Show c.59+868_59+878dupAAAAAAAAAAA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230288518	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01358.hp1 others(11): Show HG01069.hp2 HG01081.hp1 HG01358.hp1 HG01891.hp2 HG01934.hp2 HG02155.hp1 HG02976.hp2 NA18957.hp1 NA19001.hp2 NA19006.hp2 NA19011.hp2 NA19066.hp2 NA19079.hp1 NA19083.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0008c0010t0001	a0001c0001t0001g0241 a0001c0001t0001g0290 a0001c0001t0001g0291 others(11): Show a0001c0001t0001g0241 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0002g0003 a0001c0001t0002g0017 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0243 a0002c0002t0001g0323 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0338 a0008c0010t0001g0074	14	302	0.0464	11	c.172 others(28): Show c.1720+558_1720+559insCTTTCTTCTTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230288522	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	362	0.0028	11	c.172 others(28): Show c.1720+558_1720+559insCTTTCTTTCTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP1_chr12_53375176_53421446	53395645	C C	CTAGCTTC others(4): Show CTAGCTTCTTGG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0098 a0001c0001t0056g0098	1	324	0.0031	11	c.167 others(32): Show c.1676-10939_1676-10929dupTAGCTTCTTGG	SP1	ENSG00000185591.10	transcript	ENST00000327443.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01106.hp2 others(20): Show HG00438.hp2 HG00621.hp1 HG01106.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG04184.hp2 HG04228.hp2 NA18955.hp1 NA18956.hp1 NA18974.hp2 NA18982.hp2 NA18989.hp1 NA19079.hp2 NA19082.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0026 a0001c0001t0032 a0001c0001t0079 a0001c0001t0080 a0001c0001t0090 a0001c0007t0008	a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0001t0001g0168 others(20): Show a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0192 a0001c0001t0001g0305 a0001c0001t0001g0329 a0001c0001t0004g0157 a0001c0001t0005g0033 a0001c0001t0005g0036 a0001c0001t0008g0087 a0001c0001t0012g0292 a0001c0001t0012g0293 a0001c0001t0012g0295 a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0012g0299 a0001c0001t0012g0300 a0001c0001t0026g0339 a0001c0001t0032g0014 a0001c0001t0079g0019 a0001c0001t0080g0032 a0001c0001t0090g0296 a0001c0007t0008g0133	23	40	0.5750	11	c.163 others(32): Show c.1639+15098_1639+15108dupTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP8_chr7_20777279_20791886	20790841	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	186	0.0054	11	c.-40 others(22): Show c.-4044_-4043insTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3956		chr7	TogoVar
SPACA4_chr19_48601742_48612714	48602686	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18957.hp1 NA19055.hp2 NA18953.hp2 NA18957.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	353	0.0085	11	c.-42 others(22): Show c.-4293_-4292insAAAAAAAAAAA	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4055		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA18949.hp1 HG02027.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	191	0.0105	11	c.-42 others(22): Show c.-4275_-4274insAAAAAAAATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAT others(4): Show AAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA19060.hp1 HG03098.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	191	0.0105	11	c.-42 others(22): Show c.-4275_-4274insAAAAAATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAATAT others(4): Show AAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03540.hp1 HG02622.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	191	0.0105	11	c.-42 others(22): Show c.-4275_-4274insAAAATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135323	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 NA18950.hp1 HG01517.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	311	0.0064	11	c.27 others(22): Show c.2794_*2795insTTCTTTCTTTC	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2704		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48136572	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG03453.hp2 others(1): Show HG02572.hp1 HG02723.hp2 HG03453.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	4	239	0.0167	11	c.40 others(22): Show c.4043_*4044insTTTTTTTTTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		3953		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	17	0.0588	11	c.32 others(22): Show c.3270_*3271insAAAAAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPACA6_chr19_51688330_51710190	51688822	G G	GGGAGGAC others(4): Show GGGAGGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	11	c.-47 others(22): Show c.-4705_-4704insGGAGGACAGAC	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding		4507		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112416289	T T	TTGTTGTT others(4): Show TTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00639.hp1 others(62): Show HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01123.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01891.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02486.hp2 HG02647.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 NA18612.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18984.hp1 NA18985.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0261 a0001c0001t0001g0280 others(60): Show a0001c0001t0001g0003 a0001c0001t0001g0261 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0338 a0001c0001t0001g0354 a0001c0001t0001g0359 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0003g0279 a0002c0002t0001g0162	65	242	0.2686	11	c.445 others(30): Show c.445+15126_445+15127insGTTGTTGTTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACDR_chr7_100451620_100469260	100457618	C C	CATGCCTG others(4): Show CATGCCTGGCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	208	0.0048	11	c.388 others(26): Show c.388-634_388-633insAGGCCAGGCAT	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03453.hp1 HG03942.hp2 HG02886.hp2 HG03453.hp1 HG03942.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0007 a0008c0010 a0001c0001 a0007c0007 a0008c0010	a0001c0001t0001 a0007c0007t0001 a0008c0010t0001 a0001c0001t0001 a0007c0007t0001 a0008c0010t0001	a0001c0001t0001g0012 a0007c0007t0001g0075 a0008c0010t0001g0052 a0001c0001t0001g0012 a0007c0007t0001g0075 a0008c0010t0001g0052	3	6	0.5000	11	c.23 others(22): Show c.2380_*2381insTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA18941.hp2 others(1): Show HG02895.hp1 HG02897.hp1 NA18941.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0021 a0002c0002t0001g0011 a0001c0001t0001g0021 a0002c0002t0001g0011	4	9	0.4444	11	c.24 others(22): Show c.2400_*2410dupTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213292663	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG06807.hp1 HG02559.hp1 HG03225.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0007 a0001c0001t0002g0008 a0002c0002t0001g0010 a0001c0001t0002g0007 a0001c0001t0002g0008 a0002c0002t0001g0010	3	67	0.0448	11	c.137 others(28): Show c.137-3399_137-3389dupAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213387431	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02886.hp1 HG02886.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0077 a0005c0005t0001g0081 a0002c0002t0001g0077 a0005c0005t0001g0081	2	8	0.2500	11	c.942 others(30): Show c.942+12331_942+12341dupTTTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213468656	T T	TATCTCCT others(4): Show TATCTCCTATTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02922.hp1 NA19087.hp1 HG02015.hp1 HG02922.hp1 NA19087.hp1	a0007 a0009 a0011 a0007 a0009 a0011	a0007c0007 a0009c0008 a0011c0009 a0007c0007 a0009c0008 a0011c0009	a0007c0007t0001 a0009c0008t0001 a0011c0009t0001 a0007c0007t0001 a0009c0008t0001 a0011c0009t0001	a0007c0007t0001g0083 a0009c0008t0001g0084 a0011c0009t0001g0085 a0007c0007t0001g0083 a0009c0008t0001g0084 a0011c0009t0001g0085	3	86	0.0349	11	c.943 others(30): Show c.943-21307_943-21306insATCTCCTATTG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213694042	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	47	0.0213	11	c.107 others(34): Show c.1071-168441_1071-168431dupAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213867923	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01361.hp2 others(1): Show HG00735.hp2 HG01256.hp2 HG01361.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0068	4	52	0.0769	11	c.121 others(30): Show c.1214+5297_1214+5298insAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214012289	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	82	0.0122	11	c.140 others(30): Show c.1401-1662_1401-1661insATATATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	214261107	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	46	0.0217	11	c.172 others(34): Show c.1720+111877_1720+111887dupAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118062366	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG02572.hp1 others(5): Show HG00323.hp1 HG00741.hp2 HG02572.hp1 HG02896.hp1 HG02896.hp2 HG03453.hp2 HG03486.hp1 NA20300.hp2	a0001 a0004 a0012 others(1): Show a0001 a0004 a0012 a0028	a0001c0004 a0004c0005 a0012c0014 others(1): Show a0001c0004 a0004c0005 a0012c0014 a0028c0034	a0001c0004t0001 a0004c0005t0001 a0012c0014t0001 others(1): Show a0001c0004t0001 a0004c0005t0001 a0012c0014t0001 a0028c0034t0001	a0001c0004t0001g0062 a0001c0004t0001g0145 a0001c0004t0001g0212 others(5): Show a0001c0004t0001g0062 a0001c0004t0001g0145 a0001c0004t0001g0212 a0001c0004t0001g0219 a0004c0005t0001g0120 a0004c0005t0001g0121 a0012c0014t0001g0009 a0028c0034t0001g0053	8	96	0.0833	11	c.254 others(30): Show c.2540+4368_2540+4378dupTTTTTTTTTTT	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	18/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118136832	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	264	0.0038	11	c.315 others(30): Show c.315+13710_315+13711insCACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	3/48			chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01934.hp1 NA18995.hp2 HG00597.hp2 HG01934.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	117	0.0256	11	c.-58 others(20): Show c.-580_-579insAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG6_chr10_22340496_22422610	22346497	T T	TTCTTCTT others(4): Show TTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	133	0.0075	11	c.121 others(26): Show c.121+680_121+681insCTTCTTCTTCT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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