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
SOX6_chr11_15961449_16361546	16132266	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp2 HG02630.hp1 others(2): Show HG01943.hp1 HG01993.hp2 HG02630.hp1 HG02717.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0035 a0001c0002t0001 a0001c0001t0004 a0001c0001t0035 a0001c0002t0001	a0001c0001t0004g0198 a0001c0001t0035g0031 a0001c0002t0001g0020 others(2): Show a0001c0001t0004g0198 a0001c0001t0035g0031 a0001c0002t0001g0020 a0001c0002t0001g0064 a0001c0002t0001g0065	5	136	0.0368	-20	c.778 others(39): Show c.778-20363_778-20344delCTTCCTTCCTTCCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132393	AGAAAGAA others(13): Show AGAAAGAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	203	0.0049	-20	c.778 others(39): Show c.778-20490_778-20471delCTTTCTTTCTTTTTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349703	AGGAAGGA others(13): Show AGGAAGGAAGGAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp1 HG01069.hp2 others(20): Show HG00597.hp2 HG00738.hp1 HG01069.hp2 HG01243.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG03139.hp1 HG03704.hp1 NA18612.hp2 NA18948.hp1 NA18964.hp1 NA18971.hp2 NA18982.hp1 NA18986.hp1 NA18994.hp2 NA19003.hp2 NA19005.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0027 a0001c0001t0030 a0001c0002t0001 a0001c0004t0003 a0001c0004t0006 a0002c0005t0016	a0001c0001t0001g0205 a0001c0001t0002g0208 a0001c0001t0004g0123 others(20): Show a0001c0001t0001g0205 a0001c0001t0002g0208 a0001c0001t0004g0123 a0001c0001t0004g0185 a0001c0001t0004g0191 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0203 a0001c0001t0006g0124 a0001c0001t0006g0190 a0001c0001t0006g0193 a0001c0001t0006g0197 a0001c0001t0006g0204 a0001c0001t0007g0125 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0027g0181 a0001c0001t0030g0206 a0001c0002t0001g0194 a0001c0004t0003g0199 a0001c0004t0006g0200 a0002c0005t0016g0188	23	202	0.1139	-20	c.-5+ others(35): Show c.-5+6371_-5+6390delCTTCCTTCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX8_chr16_976770_991979	981299	TGTGTGAG others(13): Show TGTGTGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18965.hp2 NA18999.hp2 HG02135.hp2 NA18965.hp2 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0007 a0001c0003 a0003c0007	a0001c0003t0009 a0001c0003t0053 a0003c0007t0009 a0001c0003t0009 a0001c0003t0053 a0003c0007t0009	a0001c0003t0009g0002 a0001c0003t0053g0002 a0003c0007t0009g0002 a0001c0003t0009g0002 a0001c0003t0053g0002 a0003c0007t0009g0002	3	339	0.0088	-20	c.-62 others(29): Show c.-623_-604delGTGTGAGAGAGAGAGAGAGA	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		470		chr16	TogoVar
SP100_chr2_230411201_230550606	230436438	TGTTCTCA others(13): Show TGTTCTCATGATAATGAGTGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01123.hp1 others(28): Show HG00408.hp1 HG00544.hp1 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01496.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18950.hp2 NA18954.hp1 NA18967.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19082.hp2 NA19087.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0011	a0001c0001 a0001c0003 a0001c0009 others(6): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0005 a0002c0021 a0003c0004 a0010c0012 a0011c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0003t0003 a0001c0003t0007 a0001c0009t0002 a0001c0009t0010 a0002c0002t0001 a0002c0005t0001 a0002c0021t0001 a0003c0004t0003 a0010c0012t0009 a0011c0011t0003	a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 others(28): Show a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0003g0056 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0007g0079 a0001c0001t0018g0066 a0001c0003t0003g0063 a0001c0003t0007g0055 a0001c0009t0002g0082 a0001c0009t0010g0064 a0002c0002t0001g0078 a0002c0005t0001g0068 a0002c0005t0001g0069 a0002c0005t0001g0075 a0002c0005t0001g0076 a0002c0005t0001g0080 a0002c0005t0001g0083 a0002c0005t0001g0084 a0002c0021t0001g0101 a0003c0004t0003g0061 a0003c0004t0003g0062 a0003c0004t0003g0081 a0010c0012t0009g0087 a0011c0011t0003g0086	31	288	0.1076	-20	c.108 others(37): Show c.108-6488_108-6469delTAATGAGTGAGTTCTCATGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230460592	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0229 a0001c0001t0014g0229	1	209	0.0048	-20	c.821 others(35): Show c.821-647_821-628delTTTTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497483	GGAGGGGA others(13): Show GGAGGGGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0099 a0001c0003t0004g0099	1	285	0.0035	-20	c.164 others(37): Show c.1646-973_1646-954delGGAGGAGAGGAGAGGAGAGG	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497488	GGAGGAGA others(13): Show GGAGGAGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02647.hp1 others(8): Show HG02486.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03195.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0011 a0002c0002t0013 a0002c0005t0001 others(1): Show a0002c0002t0011 a0002c0002t0013 a0002c0005t0001 a0002c0005t0013	a0002c0002t0011g0119 a0002c0002t0011g0145 a0002c0002t0011g0157 others(8): Show a0002c0002t0011g0119 a0002c0002t0011g0145 a0002c0002t0011g0157 a0002c0002t0011g0158 a0002c0002t0011g0159 a0002c0002t0011g0160 a0002c0002t0013g0038 a0002c0002t0013g0059 a0002c0005t0001g0058 a0002c0005t0013g0037 a0002c0005t0013g0287	11	212	0.0519	-20	c.164 others(37): Show c.1646-932_1646-913delGAGGAGAGGAGAGGAGAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497529	GAGGAGAG others(13): Show GAGGAGAGGAGAGGAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	264	0.0038	-20	c.164 others(37): Show c.1646-927_1646-908delGAGGAGAGGAGAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497539	GAGGAGAG others(13): Show GAGGAGAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19080.hp2 HG02602.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0184 a0001c0001t0002g0105 a0001c0001t0002g0184	2	227	0.0088	-20	c.164 others(37): Show c.1646-917_1646-898delGAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	GAGGAAAG others(13): Show GAGGAAAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19054.hp2 HG02965.hp1 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0012 a0002c0002t0001 a0001c0003t0012 a0002c0002t0001	a0001c0003t0012g0247 a0002c0002t0001g0236 a0001c0003t0012g0247 a0002c0002t0001g0236	2	144	0.0139	-20	c.164 others(37): Show c.1646-862_1646-843delAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00673.hp2 others(32): Show HG00544.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG02040.hp1 HG03017.hp1 HG03491.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18957.hp2 NA18967.hp1 NA18969.hp2 NA18978.hp1 NA18981.hp2 NA18989.hp1 NA18994.hp1 NA19003.hp1 NA19005.hp1 NA19081.hp1 NA19083.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0002c0005 a0003c0004 a0008c0022	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0003t0002 a0001c0009t0010 a0002c0005t0001 a0002c0005t0006 a0003c0004t0002 a0008c0022t0006	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0019 others(32): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0065 a0001c0001t0002g0148 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0004g0017 a0001c0001t0006g0223 a0001c0001t0006g0230 a0001c0001t0006g0237 a0001c0001t0010g0130 a0001c0001t0010g0187 a0001c0001t0010g0260 a0001c0003t0002g0108 a0001c0003t0002g0281 a0001c0009t0010g0064 a0002c0005t0001g0010 a0002c0005t0001g0011 a0002c0005t0001g0069 a0002c0005t0001g0084 a0002c0005t0006g0012 a0002c0005t0006g0023 a0003c0004t0002g0113 a0003c0004t0002g0117 a0003c0004t0002g0134 a0003c0004t0002g0151 a0003c0004t0002g0163 a0008c0022t0006g0014	35	36	0.9722	-20	c.205 others(37): Show c.2053-612_2053-593delTTTTTTTTTTTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00558.hp1 others(56): Show HG00099.hp2 HG00140.hp2 HG00558.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02074.hp2 HG02148.hp2 HG02155.hp2 HG02622.hp1 HG02698.hp2 HG02922.hp1 HG03098.hp1 HG03239.hp2 HG03688.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp2 NA18957.hp2 NA18972.hp1 NA18974.hp2 NA18978.hp1 NA18984.hp1 NA18997.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19063.hp2 NA19077.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0009 a0016 a0018	a0001c0001 a0002c0002 a0002c0047 others(4): Show a0001c0001 a0002c0002 a0002c0047 a0008c0035 a0009c0013 a0016c0017 a0018c0019	a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 others(17): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0012 a0002c0002t0018 a0002c0002t0019 a0002c0002t0023 a0002c0002t0033 a0002c0002t0067 a0002c0002t0068 a0002c0002t0070 a0002c0047t0069 a0008c0035t0029 a0009c0013t0004 a0009c0013t0026 a0016c0017t0008 a0016c0017t0036 a0018c0019t0003	a0001c0001t0003g0227 a0001c0001t0003g0280 a0002c0002t0001g0023 others(41): Show a0001c0001t0003g0227 a0001c0001t0003g0280 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0309 a0002c0002t0002g0311 a0002c0002t0003g0001 a0002c0002t0003g0004 a0002c0002t0003g0019 a0002c0002t0003g0022 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0059 a0002c0002t0003g0062 a0002c0002t0003g0112 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0186 a0002c0002t0003g0302 a0002c0002t0003g0305 a0002c0002t0003g0306 a0002c0002t0003g0310 a0002c0002t0011g0008 a0002c0002t0011g0109 a0002c0002t0011g0113 a0002c0002t0011g0307 a0002c0002t0012g0110 a0002c0002t0018g0165 a0002c0002t0019g0368 a0002c0002t0023g0304 a0002c0002t0033g0111 a0002c0002t0067g0308 a0002c0002t0068g0192 a0002c0002t0070g0060 a0002c0047t0069g0118 a0008c0035t0029g0282 a0009c0013t0004g0010 a0009c0013t0026g0061 a0016c0017t0008g0024 a0016c0017t0008g0193 a0016c0017t0036g0335 a0018c0019t0003g0107 a0018c0019t0003g0183 a0018c0019t0003g0374	59	94	0.6277	-20	c.898 others(37): Show c.898+1376_898+1395delTATATATATATATATATATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140_chr2_230220736_230318215	230288455	ATCTTTCT others(13): Show ATCTTTCTTTCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03516.hp2 HG03098.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0341 a0001c0001t0001g0342	2	215	0.0093	-20	c.172 others(37): Show c.1720+539_1720+558delCTTTCTTTCTTTCTTTCTTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230288505	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	367	0.0027	-20	c.172 others(37): Show c.1720+543_1720+562delCTTTCTTTCTTTCTTTTTTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307980	TATATATA others(13): Show TATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp2 HG03486.hp2 HG02723.hp2 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0156 a0001c0001t0001g0210 a0001c0001t0001g0211	3	361	0.0083	-20	c.205 others(39): Show c.2059-1942_2059-1923delTATATATATACACACACACA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173933638	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0310 a0001c0001t0015g0310	1	88	0.0114	-20	c.164 others(41): Show c.1640-14873_1640-14854delTATATATATATATATATATA	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP4_chr7_21423083_21519822	21445988	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp2 others(136): Show HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02735.hp2 HG02895.hp1 HG03130.hp2 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0040 a0001c0001t0044 a0001c0001t0046 a0001c0001t0051 a0001c0001t0059 a0001c0002t0004 a0002c0003t0005 a0003c0004t0003 a0003c0004t0005 a0003c0004t0020	a0001c0001t0001g0115 a0001c0001t0003g0005 a0001c0001t0003g0017 others(131): Show a0001c0001t0001g0115 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0118 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0292 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0116 a0001c0001t0004g0133 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0319 a0001c0001t0004g0405 a0001c0001t0005g0001 a0001c0001t0005g0052 a0001c0001t0005g0054 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0072 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0209 a0001c0001t0006g0034 a0001c0001t0006g0038 a0001c0001t0013g0096 a0001c0001t0013g0097 a0001c0001t0013g0101 a0001c0001t0013g0207 a0001c0001t0013g0213 a0001c0001t0013g0214 a0001c0001t0013g0262 a0001c0001t0015g0003 a0001c0001t0015g0281 a0001c0001t0015g0282 a0001c0001t0015g0283 a0001c0001t0015g0284 a0001c0001t0020g0070 a0001c0001t0020g0092 a0001c0001t0020g0117 a0001c0001t0021g0105 a0001c0001t0021g0106 a0001c0001t0021g0107 a0001c0001t0022g0042 a0001c0001t0022g0049 a0001c0001t0022g0210 a0001c0001t0027g0044 a0001c0001t0027g0139 a0001c0001t0029g0094 a0001c0001t0029g0138 a0001c0001t0040g0057 a0001c0001t0044g0037 a0001c0001t0046g0102 a0001c0001t0051g0208 a0001c0001t0059g0111 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0202 a0001c0002t0004g0203 a0002c0003t0005g0001 a0002c0003t0005g0047 a0002c0003t0005g0055 a0002c0003t0005g0062 a0002c0003t0005g0075 a0002c0003t0005g0080 a0002c0003t0005g0081 a0003c0004t0003g0254 a0003c0004t0003g0255 a0003c0004t0003g0256 a0003c0004t0003g0258 a0003c0004t0005g0257 a0003c0004t0020g0263	139	186	0.7473	-20	c.167 others(41): Show c.1678+15168_1678+15187delTGTGTGTGTGTGTGTGTGTG	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
SP4_chr7_21423083_21519822	21497285	TCTAGTGG others(13): Show TCTAGTGGCTGCCAGATGGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(169): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19006.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0009 a0004c0006 others(1): Show a0001c0001 a0001c0009 a0004c0006 a0005c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(29): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0009t0010 a0004c0006t0006 a0005c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(157): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0238 a0001c0001t0001g0297 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0401 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0006g0038 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0167 a0001c0001t0006g0178 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0344 a0001c0001t0006g0404 a0001c0001t0007g0007 a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0007g0137 a0001c0001t0007g0265 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0001t0007g0317 a0001c0001t0007g0320 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0329 a0001c0001t0007g0330 a0001c0001t0007g0331 a0001c0001t0007g0333 a0001c0001t0007g0334 a0001c0001t0007g0338 a0001c0001t0008g0016 a0001c0001t0008g0129 a0001c0001t0008g0286 a0001c0001t0008g0296 a0001c0001t0008g0301 a0001c0001t0008g0302 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0008g0307 a0001c0001t0008g0309 a0001c0001t0008g0310 a0001c0001t0010g0253 a0001c0001t0010g0266 a0001c0001t0010g0267 a0001c0001t0010g0268 a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0014g0004 a0001c0001t0014g0173 a0001c0001t0014g0204 a0001c0001t0014g0312 a0001c0001t0014g0313 a0001c0001t0014g0314 a0001c0001t0017g0006 a0001c0001t0017g0123 a0001c0001t0017g0125 a0001c0001t0017g0126 a0001c0001t0017g0325 a0001c0001t0018g0239 a0001c0001t0018g0240 a0001c0001t0018g0241 a0001c0001t0018g0242 a0001c0001t0018g0341 a0001c0001t0018g0398 a0001c0001t0019g0124 a0001c0001t0019g0247 a0001c0001t0019g0248 a0001c0001t0019g0327 a0001c0001t0023g0244 a0001c0001t0023g0245 a0001c0001t0023g0326 a0001c0001t0024g0122 a0001c0001t0024g0339 a0001c0001t0024g0406 a0001c0001t0026g0308 a0001c0001t0028g0275 a0001c0001t0028g0276 a0001c0001t0030g0168 a0001c0001t0030g0198 a0001c0001t0034g0131 a0001c0001t0036g0154 a0001c0001t0038g0277 a0001c0001t0039g0335 a0001c0001t0042g0332 a0001c0001t0045g0191 a0001c0001t0047g0162 a0001c0001t0048g0246 a0001c0001t0049g0132 a0001c0001t0050g0337 a0001c0001t0054g0328 a0001c0001t0055g0269 a0001c0001t0056g0180 a0001c0001t0060g0371 a0001c0001t0061g0396 a0001c0009t0010g0270 a0004c0006t0006g0010 a0004c0006t0006g0179 a0005c0010t0001g0174	172	424	0.4057	-20	c.210 others(41): Show c.2108-13735_2108-13716delTAGTGGCTGCCAGATGGTGC	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
SP7_chr12_53321575_53341354	53334374	ACTCTCAG others(13): Show ACTCTCAGGGCCTGTGGCACC	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	368	0.0027	-20	c.21+ others(35): Show c.21+1232_21+1251delGGTGCCACAGGCCCTGAGAG	SP7	ENSG00000170374.6	transcript	ENST00000536324.4	protein_coding	2/2			chr12	TogoVar
SP8_chr7_20777279_20791886	20790841	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01516.hp2 others(4): Show HG01069.hp2 HG01071.hp1 HG01516.hp2 HG02055.hp1 HG02922.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	192	0.0365	-20	c.-40 others(31): Show c.-4063_-4044delTTTTTTTTTTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3956		chr7	TogoVar
SP8_chr7_20777279_20791886	20790864	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02129.hp1 others(4): Show HG01257.hp2 HG01258.hp2 HG02129.hp1 HG02258.hp1 HG03492.hp1 NA19077.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0002 a0002c0003t0001g0003 a0001c0002t0002g0002 a0002c0003t0001g0003	7	414	0.0169	-20	c.-40 others(31): Show c.-4086_-4067delCTCTTTTTTTTTTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3979		chr7	TogoVar
SPA17_chr11_124668904_124702518	124678795	TGAGCTCA others(13): Show TGAGCTCAAGCATCCGCCAGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	354	0.0028	-20	c.155 others(37): Show c.155-2593_155-2574delGAGCTCAAGCATCCGCCAGC	SPA17	ENSG00000064199.7	transcript	ENST00000227135.7	protein_coding	2/4			chr11	TogoVar
SPAAR_chr9_35904490_35916686	35915824	TGCCTCTC others(13): Show TGCCTCTCTGAGCAATGAGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	418	0.0024	-20	c.51 others(31): Show c.5134_*5153delGCCTCTCTGAGCAATGAGTC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		4139		chr9	TogoVar
SPACA3_chr17_32986847_33002877	32991611	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01433.hp1 HG02257.hp1 others(3): Show HG01346.hp2 HG01433.hp1 HG02257.hp1 HG02280.hp1 HG02896.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0381 others(3): Show a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0381 a0001c0001t0001g0382 a0002c0003t0001g0377 a0002c0003t0001g0380	6	468	0.0128	-20	c.-32 others(29): Show c.-327_-308delGTGTGTGTGTGTGTGTGCGC	SPACA3	ENSG00000141316.13	transcript	ENST00000269053.8	protein_coding		235		chr17	TogoVar
SPACA4_chr19_48601742_48612714	48602702	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	378	0.0026	-20	c.-42 others(31): Show c.-4276_-4257delAAATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4039		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	AATATATA others(13): Show AATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19062.hp1 NA19056.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	191	0.0105	-20	c.-42 others(31): Show c.-4274_-4255delATATATATATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPAG16_chr2_213279464_214415501	213292675	ACAAAAAA others(13): Show ACAAAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp2 HG03225.hp1 others(3): Show HG02717.hp1 HG02886.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp2 NA18522.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0071 a0001c0001t0002g0072 a0002c0002t0002g0073 others(3): Show a0001c0001t0001g0071 a0001c0001t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0003c0003t0001g0080 a0005c0005t0001g0081	6	86	0.0698	-20	c.137 others(37): Show c.137-3388_137-3369delCAAAAAAAACAAAAAAAAAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	1/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213310319	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03239.hp1 HG03490.hp1 HG01891.hp2 HG03239.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015	3	4	0.7500	-20	c.398 others(35): Show c.398+178_398+197delCACACACACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213426754	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	34	0.0294	-20	c.942 others(39): Show c.942+51648_942+51667delGTGTGTGTGTGTGTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213476826	GCAGGAGT others(13): Show GCAGGAGTGTTACAGCTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG01256.hp2 others(17): Show HG00673.hp2 HG00735.hp1 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG02015.hp2 HG02615.hp1 HG02647.hp1 HG03130.hp2 HG03490.hp2 HG03831.hp1 NA18968.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19030.hp2 NA19086.hp1 NA19090.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 others(17): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0067 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0059 a0003c0003t0001g0062	20	86	0.2326	-20	c.943 others(39): Show c.943-13134_943-13115delGGAGTGTTACAGCTCTTTCA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213593746	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	6	0.1667	-20	c.107 others(43): Show c.1070+103683_1070+103702delTTTTTTTTTTTTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213643346	TTTTATAT others(13): Show TTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02615.hp1 HG03195.hp2 others(1): Show HG01361.hp2 HG02615.hp1 HG03195.hp2 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0002g0067 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0002g0067 a0002c0002t0001g0011	4	49	0.0816	-20	c.107 others(43): Show c.1070+153258_1070+153277delTTATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213643348	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02717.hp1 HG03239.hp2 others(1): Show HG01516.hp1 HG02717.hp1 HG03239.hp2 NA18968.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0048 a0003c0003t0001g0033 a0003c0003t0001g0040 others(1): Show a0001c0001t0001g0048 a0003c0003t0001g0033 a0003c0003t0001g0040 a0003c0003t0001g0080	4	47	0.0851	-20	c.107 others(43): Show c.1070+153302_1070+153321delATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213728876	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG03831.hp1 others(2): Show HG00735.hp2 HG01496.hp1 HG03831.hp1 HG03831.hp2 NA18993.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0003c0003t0001g0028 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0050	5	19	0.2632	-20	c.107 others(43): Show c.1071-133583_1071-133564delAAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213802395	CTCTATCT others(13): Show CTCTATCTATCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp2 HG03239.hp2 HG02647.hp1 HG03098.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0066	3	28	0.1071	-20	c.107 others(41): Show c.1071-60057_1071-60038delTCTATCTATCTATCTATCTA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213871871	CACACACA others(13): Show CACACACACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0029	1	86	0.0116	-20	c.121 others(39): Show c.1214+9245_1214+9264delCACACACAGAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213932147	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01361.hp2 others(5): Show HG00735.hp2 HG01256.hp2 HG01361.hp2 HG01891.hp2 HG03239.hp1 HG03239.hp2 NA19086.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069	8	16	0.5000	-20	c.140 others(39): Show c.1400+2035_1400+2054delATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214076523	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01361.hp2 others(13): Show HG00673.hp1 HG00735.hp1 HG01361.hp2 HG01516.hp2 HG02015.hp2 HG02615.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03239.hp1 NA18522.hp1 NA18977.hp1 NA18993.hp1 NA19030.hp1 NA19086.hp2	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(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0006c0006t0001 a0010c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0068 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0002g0067 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0002g0074 a0003c0003t0001g0029 a0003c0003t0001g0032 a0003c0003t0002g0044 a0006c0006t0001g0082 a0010c0011t0001g0086	16	86	0.1860	-20	c.152 others(41): Show c.1528-31653_1528-31634delCTGTGTGTGTGTGTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214261107	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01496.hp1 others(6): Show HG00735.hp1 HG00735.hp2 HG01496.hp1 HG02015.hp2 HG03490.hp1 HG03831.hp2 NA18977.hp1 NA19087.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0027 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0064 a0003c0003t0001g0028 a0003c0003t0001g0032	9	54	0.1667	-20	c.172 others(43): Show c.1720+111868_1720+111887delAAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	117960109	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02723.hp1 others(3): Show HG02451.hp2 HG02615.hp2 HG02723.hp1 HG02922.hp2 HG03453.hp1 HG03486.hp1	a0001 a0020 a0001 a0020	a0001c0004 a0001c0032 a0020c0024 a0001c0004 a0001c0032 a0020c0024	a0001c0004t0001 a0001c0032t0001 a0020c0024t0001 a0001c0004t0001 a0001c0032t0001 a0020c0024t0001	a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 others(3): Show a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0213 a0001c0032t0001g0067 a0020c0024t0001g0006	6	35	0.1714	-20	c.667 others(39): Show c.6672+3670_6672+3689delACACACACACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	48/48			chr1	TogoVar
SPAG1_chr8_100153587_100246904	100206017	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19001.hp2 NA18962.hp1 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0164 a0001c0002t0001g0127 a0001c0002t0001g0164	2	36	0.0556	-20	c.109 others(39): Show c.1097-7054_1097-7035delAAAAAAAAAAAAAAAAAAAA	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG00738.hp2 others(5): Show HG00673.hp1 HG00733.hp1 HG00738.hp2 HG02559.hp2 HG02809.hp1 HG02809.hp2 NA18971.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0002c0001t0001	a0001c0002t0001g0097 a0001c0002t0001g0165 a0001c0002t0001g0179 others(5): Show a0001c0002t0001g0097 a0001c0002t0001g0165 a0001c0002t0001g0179 a0001c0003t0001g0023 a0001c0003t0001g0355 a0001c0003t0003g0100 a0001c0003t0003g0101 a0002c0001t0001g0270	8	73	0.1096	-20	c.153 others(39): Show c.1535+1113_1535+1132delATATATATATATATATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01891.hp2 HG02109.hp2 others(6): Show HG00323.hp1 HG01891.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG03209.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0002t0001g0006 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0002t0001g0006 a0001c0002t0001g0017	9	123	0.0732	-20	c.-57 others(29): Show c.-579_-560delAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG9_chr17_50957174_51125868	50981483	AAGATAGA others(13): Show AAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	97	0.0103	-20	c.323 others(39): Show c.3237+1021_3237+1040delATCTATCTATCTATCTATCT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	25/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51000751	GAATGAAT others(13): Show GAATGAATAAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04199.hp2 HG02683.hp1 HG04199.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0006 a0002c0004t0005g0007 a0002c0004t0005g0006 a0002c0004t0005g0007	2	123	0.0163	-20	c.160 others(37): Show c.1607+944_1607+963delTATTTATTTATTTATTCATT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	13/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053855	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0147 a0001c0001t0026g0147	1	132	0.0076	-20	c.495 others(37): Show c.495+2537_495+2556delTATATATATATATATATATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51076993	TCTAGCTA others(13): Show TCTAGCTATCTAGCTAGCTAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0098 a0001c0001t0027g0098	1	271	0.0037	-20	c.424 others(37): Show c.424+2571_424+2590delCTAGCTAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077013	GCTAGCTA others(13): Show GCTAGCTATCTAGCTATCTAT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp1 NA18979.hp1 HG03516.hp1 HG03579.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0134 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0001t0002g0134 a0001c0002t0001g0278 a0001c0002t0001g0280	3	242	0.0124	-20	c.424 others(37): Show c.424+2551_424+2570delATAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077053	GCTAGCTA others(13): Show GCTAGCTATCTAGCTAGCTAT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	286	0.0035	-20	c.424 others(37): Show c.424+2511_424+2530delATAGCTAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar

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