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	16010125	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp2 HG03516.hp1 others(2): Show HG02965.hp1 HG03453.hp2 HG03516.hp1 NA18991.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0003 a0001c0001t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0003g0123 a0001c0001t0006g0179 a0001c0002t0003g0056 others(2): Show a0001c0001t0003g0123 a0001c0001t0006g0179 a0001c0002t0003g0056 a0001c0002t0003g0063 a0001c0002t0003g0213	5	218	0.0229	-8	c.173 others(27): Show c.1732+4809_1732+4816delGTGTGTGT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	13/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16044966	GTCTATCT others(1): Show GTCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0004 a0001c0001t0018g0130 a0001c0001t0018g0004 a0001c0001t0018g0130	2	218	0.0092	-8	c.162 others(27): Show c.1623+1540_1623+1547delTAGATAGA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	12/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16047701	CGTGTGTG others(1): Show CGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01106.hp2 others(52): Show HG00544.hp1 HG01069.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18960.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19079.hp1 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0041 a0001c0001t0042 a0001c0003t0002	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0051 others(52): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0186 a0001c0001t0002g0209 a0001c0001t0003g0002 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0166 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0005g0086 a0001c0001t0005g0106 a0001c0001t0005g0113 a0001c0001t0005g0169 a0001c0001t0005g0185 a0001c0001t0008g0020 a0001c0001t0008g0085 a0001c0001t0008g0107 a0001c0001t0012g0048 a0001c0001t0016g0064 a0001c0001t0023g0093 a0001c0001t0024g0104 a0001c0001t0041g0037 a0001c0001t0042g0215 a0001c0003t0002g0108	55	218	0.2523	-8	c.143 others(27): Show c.1436-1008_1436-1001delACACACAC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	11/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(1): Show TTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG01496.hp1 others(13): Show HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01978.hp2 HG02056.hp1 HG02155.hp2 HG02717.hp2 HG02809.hp1 HG02965.hp1 HG03130.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG03831.hp2 NA18964.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0025 a0001c0002t0034 a0001c0002t0036 a0001c0003t0002	a0001c0001t0002g0073 a0001c0001t0003g0002 a0001c0001t0004g0111 others(13): Show a0001c0001t0002g0073 a0001c0001t0003g0002 a0001c0001t0004g0111 a0001c0001t0004g0197 a0001c0001t0020g0071 a0001c0001t0035g0033 a0001c0002t0001g0062 a0001c0002t0003g0056 a0001c0002t0003g0066 a0001c0002t0003g0080 a0001c0002t0003g0213 a0001c0002t0010g0152 a0001c0002t0025g0075 a0001c0002t0034g0072 a0001c0002t0036g0058 a0001c0003t0002g0108	16	218	0.0734	-8	c.110 others(27): Show c.1102-7603_1102-7596delTATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16079020	ATTCTGAG others(1): Show ATTCTGAGT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03195.hp2 HG02896.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0028 a0001c0001t0003g0036	2	218	0.0092	-8	c.110 others(29): Show c.1101+16968_1101+16975delACTCAGAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16125816	TAGGAAGG others(1): Show TAGGAAGGA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01433.hp2 HG01496.hp1 others(16): Show HG01169.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp2 NA18964.hp1 NA19002.hp2 NA19079.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0031 a0001c0001t0041 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0002t0022	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0002g0122 others(16): Show a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0002g0122 a0001c0001t0003g0031 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0004g0193 a0001c0001t0009g0047 a0001c0001t0013g0006 a0001c0001t0015g0046 a0001c0001t0031g0044 a0001c0001t0041g0037 a0001c0002t0001g0062 a0001c0002t0003g0003 a0001c0002t0003g0066 a0001c0002t0008g0069 a0001c0002t0011g0188 a0001c0002t0022g0162	19	218	0.0872	-8	c.778 others(27): Show c.778-13901_778-13894delTCCTTCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132266	AGAAGGAA others(1): Show AGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG02040.hp2 others(14): Show HG00639.hp2 HG00738.hp2 HG02040.hp2 HG02055.hp2 HG02129.hp2 HG02273.hp2 HG02572.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18999.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0036 a0001c0002t0040 a0001c0004t0003	a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0178 others(14): Show a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0178 a0001c0001t0004g0011 a0001c0001t0007g0182 a0001c0001t0012g0027 a0001c0001t0014g0025 a0001c0002t0001g0024 a0001c0002t0001g0089 a0001c0002t0003g0057 a0001c0002t0003g0191 a0001c0002t0003g0213 a0001c0002t0004g0013 a0001c0002t0004g0190 a0001c0002t0036g0058 a0001c0002t0040g0135 a0001c0004t0003g0200	17	218	0.0780	-8	c.778 others(27): Show c.778-20351_778-20344delCTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132330	GGAAAGAA others(1): Show GGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG01175.hp2 others(10): Show HG00597.hp2 HG01099.hp1 HG01175.hp2 HG01256.hp1 HG01952.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG04228.hp2 NA18968.hp1 NA18984.hp1 NA19003.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001 a0001c0002t0037 a0001c0002t0039 a0001c0002t0045 a0002c0005t0016	a0001c0001t0004g0202 a0001c0001t0007g0180 a0001c0001t0009g0047 others(10): Show a0001c0001t0004g0202 a0001c0001t0007g0180 a0001c0001t0009g0047 a0001c0001t0015g0046 a0001c0002t0001g0012 a0001c0002t0001g0147 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0163 a0001c0002t0037g0050 a0001c0002t0039g0017 a0001c0002t0045g0214 a0002c0005t0016g0187	13	218	0.0596	-8	c.778 others(27): Show c.778-20415_778-20408delTTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16134384	AGGAAAGC others(1): Show AGGAAAGCC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp2 HG02896.hp1 others(1): Show HG02055.hp1 HG02818.hp2 HG02896.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0005g0034 others(1): Show a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0005g0034 a0001c0001t0005g0098	4	218	0.0184	-8	c.778 others(27): Show c.778-22469_778-22462delGGCTTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16287257	GTCTCTCT others(1): Show GTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp1 HG01106.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0044 a0001c0001t0003 a0001c0001t0044	a0001c0001t0003g0002 a0001c0001t0044g0218 a0001c0001t0003g0002 a0001c0001t0044g0218	2	218	0.0092	-8	c.445 others(27): Show c.445+31181_445+31188delGAGAGAGA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	GAGGAAGG others(1): Show GAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02922.hp2 others(3): Show HG02258.hp1 HG02717.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 others(3): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0035 a0001c0002t0009 a0001c0002t0032	a0001c0001t0003g0028 a0001c0001t0012g0027 a0001c0001t0014g0029 others(3): Show a0001c0001t0003g0028 a0001c0001t0012g0027 a0001c0001t0014g0029 a0001c0001t0035g0033 a0001c0002t0009g0030 a0001c0002t0032g0009	6	218	0.0275	-8	c.-5+ others(23): Show c.-5+6412_-5+6419delTCCTTCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16352250	TGATGGAT others(1): Show TGATGGATG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02293.hp2 others(9): Show HG01243.hp1 HG02258.hp1 HG02293.hp2 HG02572.hp1 HG02818.hp2 HG02922.hp2 HG03041.hp1 HG03195.hp2 NA18906.hp2 NA18984.hp1 NA18986.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0041 a0001c0002t0001 a0001c0002t0009 a0001c0002t0037	a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0003g0026 others(9): Show a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0035 a0001c0001t0005g0034 a0001c0001t0012g0027 a0001c0001t0014g0029 a0001c0001t0041g0037 a0001c0002t0001g0015 a0001c0002t0009g0030 a0001c0002t0037g0050	12	218	0.0551	-8	c.-5+ others(23): Show c.-5+3836_-5+3843delCATCCATC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX7_chr8_10718768_10735511	10735243	TCACACAC others(1): Show TCACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp1 others(96): Show HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp2 HG01109.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0002 a0001c0018 others(6): Show a0001c0001 a0001c0002 a0001c0018 a0001c0023 a0002c0003 a0002c0005 a0002c0008 a0007c0024 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0027 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0041 a0001c0018t0002 a0001c0023t0002 a0002c0003t0004 a0002c0005t0007 a0002c0008t0006 a0007c0024t0036 a0008c0010t0028	a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0015 others(28): Show a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0074 a0001c0001t0002g0081 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0006g0065 a0001c0001t0007g0010 a0001c0001t0010g0046 a0001c0001t0016g0028 a0001c0001t0017g0033 a0001c0001t0017g0096 a0001c0001t0027g0063 a0001c0001t0043g0067 a0001c0002t0001g0037 a0001c0002t0002g0009 a0001c0002t0002g0083 a0001c0002t0006g0026 a0001c0002t0041g0061 a0001c0018t0002g0069 a0001c0023t0002g0072 a0002c0003t0004g0004 a0002c0005t0007g0071 a0002c0008t0006g0082 a0007c0024t0036g0073 a0008c0010t0028g0058	99	462	0.2143	-8	c.-48 others(19): Show c.-4818_-4811delTGTGTGTG	SOX7	ENSG00000171056.8	transcript	ENST00000304501.2	protein_coding		4733		chr8	TogoVar
SOX8_chr16_976770_991979	981299	TGTGTGAG others(1): Show TGTGTGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG01981.hp1 others(22): Show HG01255.hp2 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02083.hp2 HG02155.hp1 HG02572.hp1 HG02630.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG04199.hp2 NA18950.hp2 NA18959.hp1 NA18966.hp1 NA18978.hp2 NA18995.hp2 NA19055.hp2 NA19057.hp2 NA19064.hp2 NA19077.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0003c0011	a0001c0001t0042 a0001c0001t0051 a0001c0002t0011 others(7): Show a0001c0001t0042 a0001c0001t0051 a0001c0002t0011 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0016 a0001c0003t0048 a0002c0007t0002 a0003c0011t0052	a0001c0001t0042g0042 a0001c0001t0051g0002 a0001c0002t0011g0002 others(9): Show a0001c0001t0042g0042 a0001c0001t0051g0002 a0001c0002t0011g0002 a0001c0003t0002g0002 a0001c0003t0002g0004 a0001c0003t0009g0002 a0001c0003t0010g0002 a0001c0003t0010g0027 a0001c0003t0016g0002 a0001c0003t0048g0002 a0002c0007t0002g0002 a0003c0011t0052g0002	25	434	0.0576	-8	c.-62 others(17): Show c.-623_-616delGTGTGAGA	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		470		chr16	TogoVar
SOX8_chr16_976770_991979	981343	AGAGAGTG others(1): Show AGAGAGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp2 others(4): Show HG01069.hp1 HG01071.hp1 HG01074.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0002t0014	a0001c0001t0001g0001 a0001c0001t0006g0006 a0001c0002t0003g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0006g0006 a0001c0002t0003g0005 a0001c0002t0014g0003 a0001c0002t0014g0023	7	434	0.0161	-8	c.-57 others(17): Show c.-579_-572delGAGAGTGT	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		426		chr16	TogoVar
SOX8_chr16_976770_991979	981347	AGTGTGTG others(1): Show AGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01192.hp2 HG01884.hp2 others(12): Show HG00423.hp1 HG01192.hp2 HG01884.hp2 HG02056.hp1 HG02257.hp1 HG03130.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp1 NA18966.hp1 NA18978.hp2 NA18983.hp2 NA19056.hp2 NA19075.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0007c0028	a0001c0001t0033 a0001c0001t0051 a0001c0002t0007 others(7): Show a0001c0001t0033 a0001c0001t0051 a0001c0002t0007 a0001c0002t0041 a0001c0003t0002 a0001c0003t0010 a0001c0003t0016 a0001c0003t0049 a0002c0007t0002 a0007c0028t0002	a0001c0001t0033g0006 a0001c0001t0051g0002 a0001c0002t0007g0008 others(7): Show a0001c0001t0033g0006 a0001c0001t0051g0002 a0001c0002t0007g0008 a0001c0002t0041g0002 a0001c0003t0002g0002 a0001c0003t0010g0002 a0001c0003t0016g0002 a0001c0003t0049g0002 a0002c0007t0002g0002 a0007c0028t0002g0002	15	434	0.0346	-8	c.-57 others(17): Show c.-575_-568delGTGTGTGT	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		422		chr16	TogoVar
SP100_chr2_230411201_230550606	230436961	CACATATA others(1): Show CACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp1 HG01074.hp1 others(22): Show HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG02040.hp1 HG02258.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG03654.hp2 HG04184.hp2 NA18954.hp2 NA18957.hp1 NA18978.hp1 NA18981.hp2 NA18989.hp1 NA18994.hp1 NA19003.hp1 NA19054.hp1 NA19055.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0001c0017 others(4): Show a0001c0001 a0001c0003 a0001c0017 a0002c0002 a0002c0005 a0003c0004 a0008c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0017t0002 a0002c0002t0001 a0002c0005t0001 a0002c0005t0005 a0003c0004t0003 a0008c0022t0005	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(22): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0003g0028 a0001c0001t0004g0016 a0001c0001t0027g0020 a0001c0003t0002g0012 a0001c0003t0003g0021 a0001c0003t0010g0019 a0001c0017t0002g0017 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0005t0001g0009 a0002c0005t0001g0010 a0002c0005t0005g0011 a0002c0005t0005g0022 a0002c0005t0005g0023 a0003c0004t0003g0015 a0003c0004t0003g0254 a0008c0022t0005g0013	25	290	0.0862	-8	c.108 others(25): Show c.108-5974_108-5967delCATATATA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230468566	AGGCTGAG others(1): Show AGGCTGAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(41): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01978.hp1 HG02074.hp2 HG02129.hp2 HG02258.hp2 HG02735.hp1 HG02886.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18973.hp2 NA19009.hp1 NA20752.hp1 NA20752.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0006 a0004c0015 a0003c0004 a0004c0006 a0004c0015	a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 others(2): Show a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0004c0006t0004 a0004c0015t0004	a0003c0004t0002g0112 a0003c0004t0002g0116 a0003c0004t0002g0133 others(41): Show a0003c0004t0002g0112 a0003c0004t0002g0116 a0003c0004t0002g0133 a0003c0004t0002g0150 a0003c0004t0002g0151 a0003c0004t0002g0162 a0003c0004t0002g0260 a0003c0004t0002g0263 a0003c0004t0002g0270 a0003c0004t0003g0015 a0003c0004t0003g0060 a0003c0004t0003g0061 a0003c0004t0003g0080 a0003c0004t0003g0102 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0115 a0003c0004t0003g0132 a0003c0004t0003g0136 a0003c0004t0003g0141 a0003c0004t0003g0145 a0003c0004t0003g0161 a0003c0004t0003g0164 a0003c0004t0003g0188 a0003c0004t0003g0208 a0003c0004t0003g0218 a0003c0004t0003g0238 a0003c0004t0003g0240 a0003c0004t0003g0254 a0003c0004t0003g0262 a0003c0004t0003g0264 a0003c0004t0003g0265 a0003c0004t0003g0266 a0003c0004t0003g0272 a0003c0004t0004g0050 a0003c0004t0004g0103 a0003c0004t0004g0247 a0004c0006t0004g0152 a0004c0006t0004g0179 a0004c0006t0004g0181 a0004c0006t0004g0237 a0004c0006t0004g0278 a0004c0006t0004g0283 a0004c0015t0004g0153	44	290	0.1517	-8	c.129 others(25): Show c.1292-468_1292-461delGGCTGAGG	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230506782	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01261.hp2 others(35): Show HG00140.hp1 HG01243.hp1 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02129.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03654.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA19080.hp1 NA20752.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0009	a0001c0001 a0001c0003 a0003c0004 others(5): Show a0001c0001 a0001c0003 a0003c0004 a0004c0006 a0004c0015 a0006c0014 a0006c0016 a0009c0018	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(14): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0003c0004t0003 a0003c0004t0004 a0004c0006t0004 a0004c0015t0004 a0006c0014t0004 a0006c0016t0004 a0009c0018t0004	a0001c0001t0003g0055 a0001c0001t0004g0048 a0001c0001t0004g0049 others(35): Show a0001c0001t0003g0055 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0095 a0001c0001t0004g0175 a0001c0001t0004g0271 a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0123 a0001c0001t0006g0126 a0001c0001t0006g0251 a0001c0001t0008g0131 a0001c0001t0022g0088 a0001c0003t0003g0138 a0001c0003t0003g0187 a0001c0003t0004g0098 a0001c0003t0004g0248 a0001c0003t0006g0090 a0001c0003t0008g0255 a0001c0003t0008g0256 a0001c0003t0012g0246 a0003c0004t0003g0060 a0003c0004t0004g0050 a0003c0004t0004g0103 a0003c0004t0004g0247 a0004c0006t0004g0152 a0004c0006t0004g0179 a0004c0006t0004g0181 a0004c0006t0004g0237 a0004c0006t0004g0278 a0004c0006t0004g0283 a0004c0015t0004g0153 a0006c0014t0004g0205 a0006c0016t0004g0281 a0009c0018t0004g0042	38	290	0.1310	-8	c.201 others(25): Show c.2013+373_2013+380delCACACACA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230522509	CTTGCACT others(1): Show CTTGCACTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02818.hp2 others(6): Show HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002	a0001c0001t0021 a0001c0003t0017 a0001c0007t0017 others(1): Show a0001c0001t0021 a0001c0003t0017 a0001c0007t0017 a0002c0002t0011	a0001c0001t0021g0287 a0001c0003t0017g0137 a0001c0007t0017g0030 others(6): Show a0001c0001t0021g0287 a0001c0003t0017g0137 a0001c0007t0017g0030 a0002c0002t0011g0119 a0002c0002t0011g0144 a0002c0002t0011g0156 a0002c0002t0011g0157 a0002c0002t0011g0158 a0002c0002t0011g0159	9	290	0.0310	-8	c.209 others(29): Show c.2094+11345_2094+11352delTGCACTGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230524364	AAAAAAAA others(1): Show AAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02818.hp2 others(3): Show HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG03195.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0119 a0002c0002t0011g0144 a0002c0002t0011g0156 others(3): Show a0002c0002t0011g0119 a0002c0002t0011g0144 a0002c0002t0011g0156 a0002c0002t0011g0157 a0002c0002t0011g0158 a0002c0002t0011g0159	6	290	0.0207	-8	c.209 others(29): Show c.2094+13204_2094+13211delAAGAAAAA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	TTATATAT others(1): Show TTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(4): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01496.hp2 NA18980.hp1	a0001 a0004 a0012 others(2): Show a0001 a0004 a0012 a0025 a0030	a0001c0001 a0004c0004 a0012c0018 others(3): Show a0001c0001 a0004c0004 a0012c0018 a0012c0024 a0025c0053 a0030c0052	a0001c0001t0002 a0004c0004t0010 a0004c0004t0072 others(4): Show a0001c0001t0002 a0004c0004t0010 a0004c0004t0072 a0012c0018t0043 a0012c0024t0044 a0025c0053t0001 a0030c0052t0008	a0001c0001t0002g0054 a0004c0004t0010g0265 a0004c0004t0072g0266 others(4): Show a0001c0001t0002g0054 a0004c0004t0010g0265 a0004c0004t0072g0266 a0012c0018t0043g0333 a0012c0024t0044g0332 a0025c0053t0001g0334 a0030c0052t0008g0331	7	428	0.0164	-8	c.898 others(25): Show c.898+1388_898+1395delTATATATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230354848	GGAAAGAA others(1): Show GGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG00741.hp1 others(39): Show HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01192.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03669.hp2 HG03834.hp2 HG04184.hp1 NA18522.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18978.hp1 NA18982.hp2 NA19001.hp1 NA19003.hp1 NA19054.hp2 NA19065.hp1 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0014	a0001c0001 a0001c0004 a0002c0002 others(10): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0003c0003 a0004c0005 a0005c0007 a0005c0008 a0006c0009 a0008c0010 a0009c0011 a0011c0014 a0014c0027	a0001c0001t0001 a0001c0004t0002 a0001c0004t0004 others(11): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0004 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0004c0005t0001 a0005c0007t0002 a0005c0008t0001 a0006c0009t0001 a0008c0010t0004 a0009c0011t0001 a0011c0014t0001 a0014c0027t0001	a0001c0001t0001g0067 a0001c0001t0001g0188 a0001c0001t0001g0193 others(37): Show a0001c0001t0001g0067 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0004t0002g0062 a0001c0004t0002g0225 a0001c0004t0002g0287 a0001c0004t0002g0309 a0001c0004t0004g0025 a0001c0004t0004g0055 a0002c0002t0001g0011 a0002c0002t0001g0187 a0002c0002t0001g0311 a0002c0006t0001g0056 a0003c0003t0001g0226 a0003c0003t0001g0297 a0003c0003t0001g0298 a0004c0005t0001g0088 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0111 a0004c0005t0001g0172 a0005c0007t0002g0096 a0005c0007t0002g0106 a0005c0007t0002g0107 a0005c0008t0001g0082 a0005c0008t0001g0097 a0006c0009t0001g0173 a0008c0010t0004g0058 a0009c0011t0001g0003 a0011c0014t0001g0176 a0014c0027t0001g0057	42	336	0.1250	-8	c.108 others(25): Show c.108-2915_108-2908delAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230381711	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp2 others(74): Show HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18946.hp1 NA18954.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18994.hp1 NA18995.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19067.hp1 NA19074.hp1 NA19082.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0004 a0001c0018 others(6): Show a0001c0001 a0001c0004 a0001c0018 a0002c0002 a0002c0021 a0002c0022 a0006c0009 a0007c0012 a0007c0019	a0001c0001t0001 a0001c0004t0004 a0001c0018t0001 others(6): Show a0001c0001t0001 a0001c0004t0004 a0001c0018t0001 a0002c0002t0001 a0002c0021t0001 a0002c0022t0001 a0006c0009t0001 a0007c0012t0001 a0007c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0068 others(66): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0291 a0001c0004t0004g0023 a0001c0004t0004g0024 a0001c0004t0004g0025 a0001c0004t0004g0055 a0001c0018t0001g0170 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0117 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0143 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0177 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0191 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0232 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0249 a0002c0002t0001g0252 a0002c0002t0001g0255 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0267 a0002c0002t0001g0288 a0002c0002t0001g0304 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0021t0001g0308 a0002c0022t0001g0159 a0006c0009t0001g0090 a0006c0009t0001g0103 a0006c0009t0001g0104 a0006c0009t0001g0112 a0006c0009t0001g0173 a0007c0012t0001g0020 a0007c0012t0001g0021 a0007c0012t0001g0022 a0007c0019t0001g0031	77	336	0.2292	-8	c.638 others(25): Show c.638-1757_638-1750delCACACACA	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230288455	ATCTTTCT others(1): Show ATCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01070.hp1 others(23): Show HG00140.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01496.hp1 HG01981.hp2 HG02004.hp2 HG02109.hp1 HG02300.hp1 HG02897.hp1 HG03017.hp1 HG03195.hp2 HG03209.hp2 HG03834.hp1 NA19009.hp1 NA19043.hp2 NA19067.hp2 NA19076.hp2 NA19091.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0010 a0012	a0001c0001 a0003c0004 a0003c0005 others(4): Show a0001c0001 a0003c0004 a0003c0005 a0004c0003 a0005c0007 a0010c0022 a0012c0020	a0001c0001t0001 a0003c0004t0003 a0003c0005t0003 others(4): Show a0001c0001t0001 a0003c0004t0003 a0003c0005t0003 a0004c0003t0001 a0005c0007t0001 a0010c0022t0001 a0012c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0046 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0173 a0001c0001t0001g0213 a0003c0004t0003g0020 a0003c0005t0003g0097 a0003c0005t0003g0098 a0003c0005t0003g0216 a0004c0003t0001g0272 a0005c0007t0001g0004 a0010c0022t0001g0134 a0012c0020t0001g0254	26	370	0.0703	-8	c.172 others(25): Show c.1720+551_1720+558delCTTTCTTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307984	TATATATA others(1): Show TATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02683.hp1 HG02976.hp2 others(2): Show HG02056.hp2 HG02683.hp1 HG02976.hp2 HG03041.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0115 a0001c0001t0002g0243 a0001c0001t0002g0256 others(2): Show a0001c0001t0001g0115 a0001c0001t0002g0243 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0264	5	370	0.0135	-8	c.205 others(27): Show c.2059-1938_2059-1931delTATATACA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307986	TATATACA others(1): Show TATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp1 HG01258.hp2 others(7): Show HG01074.hp1 HG01257.hp1 HG01258.hp2 HG02055.hp1 HG02257.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0003 a0006c0009 a0001c0001 a0004c0003 a0006c0009	a0001c0001t0001 a0004c0003t0001 a0006c0009t0004 a0001c0001t0001 a0004c0003t0001 a0006c0009t0004	a0001c0001t0001g0007 a0001c0001t0001g0170 a0001c0001t0001g0178 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0222 a0004c0003t0001g0312 a0004c0003t0001g0313 a0006c0009t0004g0154 a0006c0009t0004g0155 a0006c0009t0004g0156	10	370	0.0270	-8	c.205 others(27): Show c.2059-1936_2059-1929delTATACACA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP1_chr12_53375176_53421446	53412930	CTGTGTGT others(1): Show CTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00673.hp1 others(97): Show HG00323.hp1 HG00609.hp1 HG00673.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18987.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0004c0005 a0008c0013 a0009c0008	a0001c0001t0005 a0001c0001t0010 a0001c0001t0030 others(24): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0030 a0001c0001t0034 a0001c0001t0042 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0091 a0001c0002t0002 a0001c0002t0009 a0001c0002t0018 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0044 a0001c0002t0074 a0001c0002t0075 a0001c0002t0077 a0002c0004t0002 a0002c0004t0076 a0004c0005t0029 a0008c0013t0002 a0009c0008t0002	a0001c0001t0005g0015 a0001c0001t0005g0187 a0001c0001t0005g0273 others(94): Show a0001c0001t0005g0015 a0001c0001t0005g0187 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0010g0016 a0001c0001t0010g0267 a0001c0001t0010g0268 a0001c0001t0010g0279 a0001c0001t0030g0278 a0001c0001t0030g0286 a0001c0001t0034g0299 a0001c0001t0042g0266 a0001c0001t0078g0263 a0001c0001t0079g0285 a0001c0001t0080g0186 a0001c0001t0091g0015 a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0027 a0001c0002t0002g0176 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0262 a0001c0002t0009g0003 a0001c0002t0009g0012 a0001c0002t0009g0213 a0001c0002t0009g0230 a0001c0002t0018g0003 a0001c0002t0018g0205 a0001c0002t0018g0210 a0001c0002t0027g0215 a0001c0002t0027g0216 a0001c0002t0028g0236 a0001c0002t0028g0237 a0001c0002t0029g0197 a0001c0002t0039g0295 a0001c0002t0040g0195 a0001c0002t0041g0238 a0001c0002t0044g0220 a0001c0002t0074g0214 a0001c0002t0075g0003 a0001c0002t0077g0212 a0002c0004t0002g0249 a0002c0004t0076g0259 a0004c0005t0029g0206 a0008c0013t0002g0196 a0009c0008t0002g0255	100	326	0.3068	-8	c.17 others(19): Show c.1720_*1727delGTGTGTGT	SP1	ENSG00000185591.10	transcript	ENST00000327443.9	protein_coding	6/6	1720	INFO_REALIGN_3_PRIME	chr12	TogoVar
SP2_chr17_47891236_47933957	47925905	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp2 HG01517.hp2 others(3): Show HG01243.hp1 HG01516.hp2 HG01517.hp2 HG02572.hp2 HG02723.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0166 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0195	6	366	0.0164	-8	c.174 others(25): Show c.1741+385_1741+392delTTTTTTTT	SP2	ENSG00000167182.16	transcript	ENST00000376741.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
SP3_chr2_173895775_173970373	173933638	TTATATAT others(1): Show TTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp1 NA18522.hp2 others(5): Show HG02486.hp1 HG02970.hp1 NA18522.hp2 NA18939.hp2 NA18972.hp1 NA19060.hp1 NA19067.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0026 a0001c0001t0055 others(2): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0055 a0002c0002t0019 a0002c0002t0045	a0001c0001t0001g0302 a0001c0001t0026g0338 a0001c0001t0026g0339 others(5): Show a0001c0001t0001g0302 a0001c0001t0026g0338 a0001c0001t0026g0339 a0001c0001t0055g0091 a0002c0002t0019g0073 a0002c0002t0019g0237 a0002c0002t0019g0253 a0002c0002t0045g0254	8	356	0.0225	-8	c.164 others(29): Show c.1640-14861_1640-14854delTATATATA	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP4_chr7_21423083_21519822	21445988	ATGTGTGT others(1): Show ATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00639.hp1 others(47): Show HG00140.hp2 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01978.hp2 HG02258.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18956.hp1 NA18963.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19068.hp1 NA19072.hp2 NA19080.hp1 NA19086.hp2 NA19087.hp1 NA20752.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0010 a0001c0001 a0001c0005 a0005c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0043 a0001c0001t0055 a0001c0005t0008 a0005c0010t0001	a0001c0001t0001g0135 a0001c0001t0001g0178 a0001c0001t0001g0240 others(44): Show a0001c0001t0001g0135 a0001c0001t0001g0178 a0001c0001t0001g0240 a0001c0001t0001g0405 a0001c0001t0006g0179 a0001c0001t0007g0006 a0001c0001t0007g0126 a0001c0001t0007g0136 a0001c0001t0007g0267 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0333 a0001c0001t0007g0334 a0001c0001t0007g0335 a0001c0001t0007g0337 a0001c0001t0007g0338 a0001c0001t0007g0342 a0001c0001t0008g0014 a0001c0001t0008g0128 a0001c0001t0008g0300 a0001c0001t0008g0305 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0008g0313 a0001c0001t0008g0314 a0001c0001t0009g0238 a0001c0001t0009g0239 a0001c0001t0017g0005 a0001c0001t0017g0122 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0017g0329 a0001c0001t0019g0123 a0001c0001t0019g0249 a0001c0001t0019g0330 a0001c0001t0023g0246 a0001c0001t0023g0247 a0001c0001t0024g0121 a0001c0001t0024g0343 a0001c0001t0024g0410 a0001c0001t0026g0312 a0001c0001t0032g0354 a0001c0001t0043g0336 a0001c0001t0055g0331 a0001c0005t0008g0254 a0005c0010t0001g0160	50	426	0.1174	-8	c.167 others(29): Show c.1678+15180_1678+15187delTGTGTGTG	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
SP4_chr7_21423083_21519822	21517465	CCCCTTGA others(1): Show CCCCTTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02055.hp2 HG02559.hp1 others(13): Show HG00544.hp1 HG02055.hp2 HG02559.hp1 HG03041.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 NA18943.hp2 NA18945.hp2 NA18964.hp1 NA18973.hp1 NA18999.hp1 NA19064.hp2 NA19068.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 others(4): Show a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0001c0001t0034 a0001c0001t0039 a0001c0001t0056 a0001c0009t0010	a0001c0001t0010g0255 a0001c0001t0010g0268 a0001c0001t0010g0269 others(13): Show a0001c0001t0010g0255 a0001c0001t0010g0268 a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0276 a0001c0001t0010g0280 a0001c0001t0018g0241 a0001c0001t0018g0242 a0001c0001t0018g0244 a0001c0001t0028g0278 a0001c0001t0034g0130 a0001c0001t0039g0279 a0001c0001t0056g0271 a0001c0009t0010g0272	16	426	0.0376	-8	c.61 others(19): Show c.6197_*6204delCCCTTGAG	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding		2644		chr7	TogoVar
SP5_chr2_170710337_170723078	170721373	ATGACCTT others(1): Show ATGACCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03490.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0001 a0002c0015 a0003c0006 others(1): Show a0002c0001 a0002c0015 a0003c0006 a0005c0012	a0002c0001t0001 a0002c0001t0003 a0002c0015t0001 others(2): Show a0002c0001t0001 a0002c0001t0003 a0002c0015t0001 a0003c0006t0001 a0005c0012t0001	a0002c0001t0001g0001 a0002c0001t0003g0001 a0002c0015t0001g0001 others(2): Show a0002c0001t0001g0001 a0002c0001t0003g0001 a0002c0015t0001g0001 a0003c0006t0001g0001 a0005c0012t0001g0001	146	452	0.3230	-8	c.39 others(19): Show c.3970_*3977delTGACCTTC	SP5	ENSG00000204335.4	transcript	ENST00000375281.4	protein_coding		3296		chr2	TogoVar
SP8_chr7_20777279_20791886	20790841	CAAAAAAA others(1): Show CAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG02895.hp2 others(7): Show HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0011g0014 a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0011g0014	10	416	0.0240	-8	c.-40 others(19): Show c.-4051_-4044delTTTTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3956		chr7	TogoVar
SP8_chr7_20777279_20791886	20790876	AAAAAAGA others(1): Show AAAAAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02074.hp2 HG03710.hp2 others(5): Show HG00140.hp2 HG02074.hp2 HG03710.hp2 HG04115.hp2 HG04228.hp1 NA19064.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0015g0019 a0001c0001t0001g0001 a0001c0001t0015g0019	8	416	0.0192	-8	c.-40 others(19): Show c.-4086_-4079delCTCTTTTT	SP8	ENSG00000164651.18	transcript	ENST00000418710.3	protein_coding		3991		chr7	TogoVar
SPACA4_chr19_48601742_48612714	48602704	AATATATA others(1): Show AATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG01934.hp1 others(7): Show HG01123.hp2 HG01261.hp2 HG01934.hp1 HG01943.hp2 HG02165.hp1 HG02970.hp2 NA18956.hp2 NA18979.hp1 NA19080.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	10	392	0.0255	-8	c.-42 others(19): Show c.-4274_-4267delATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48133072	CACTTTGG others(1): Show CACTTTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	312	0.0032	-8	c.54 others(17): Show c.544_*551delACTTTGGG	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		453		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48135285	GCTTGCTT others(1): Show GCTTGCTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	312	0.0032	-8	c.27 others(19): Show c.2757_*2764delCTTGCTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2666		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48013035	CCTTTCTT others(1): Show CCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	292	0.0034	-8	c.33 others(19): Show c.3391_*3398delCTTTCTTT	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3303		chrX	TogoVar
SPACA7_chr13_112371355_112439689	112383107	AAAGAAAA others(1): Show AAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01168.hp1 HG01257.hp2 others(40): Show HG00621.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG03017.hp1 HG03490.hp1 HG03831.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18961.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 others(38): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0096	43	391	0.1100	-8	c.94+ others(23): Show c.94+6631_94+6638delGAAAAGAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112430168	CTCTCTCT others(1): Show CTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01175.hp1 others(3): Show HG00140.hp2 HG00639.hp2 HG01175.hp1 HG01516.hp1 HG03831.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 others(3): Show a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0335	6	391	0.0154	-8	c.446 others(25): Show c.446-2274_446-2267delCTCTCTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACDR_chr7_100451620_100469260	100458195	GGTGTGTG others(1): Show GGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01891.hp1 HG02970.hp1 others(3): Show HG01169.hp1 HG01891.hp1 HG02970.hp1 HG03453.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0258 a0001c0001t0002g0032 a0001c0001t0002g0299	6	350	0.0171	-8	c.388 others(25): Show c.388-1218_388-1211delACACACAC	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	ATTTTTTT others(1): Show ATTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01346.hp1 HG01978.hp1 others(4): Show HG00323.hp2 HG01346.hp1 HG01978.hp1 HG02056.hp1 HG02129.hp1 NA18957.hp2 NA18973.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0001 a0006c0006t0001 a0003c0003t0001 a0006c0006t0001	a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0048 others(4): Show a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0048 a0003c0003t0001g0051 a0003c0003t0001g0054 a0006c0006t0001g0046 a0006c0006t0001g0047	7	131	0.0534	-8	c.23 others(19): Show c.2381_*2388delTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213310319	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp1 HG01256.hp2 others(14): Show HG00735.hp1 HG01256.hp1 HG01256.hp2 HG01516.hp2 HG02015.hp2 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG03130.hp2 HG03490.hp2 NA18522.hp2 NA18968.hp2 NA18977.hp2 NA18993.hp2 NA19000.hp1 NA19030.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0065 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0009 a0001c0001t0002g0067 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0076 a0003c0003t0001g0060 a0003c0003t0001g0080	17	86	0.1977	-8	c.398 others(23): Show c.398+190_398+197delCACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213407596	GGAGAGAG others(1): Show GGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG01256.hp2 others(25): Show HG00673.hp2 HG00735.hp1 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG02015.hp2 HG02109.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp2 NA18522.hp2 NA18968.hp2 NA18977.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19086.hp1 NA19090.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0065 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0044 a0001c0001t0002g0067 a0002c0002t0001g0018 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0062 a0005c0005t0001g0017 a0006c0006t0001g0082	28	86	0.3256	-8	c.942 others(27): Show c.942+32514_942+32521delGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213417205	GACACACA others(1): Show GACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 NA19030.hp1 others(3): Show HG01891.hp1 HG02559.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0001 a0006c0006t0001 a0004c0004t0001 a0006c0006t0001	a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 others(3): Show a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0006c0006t0001g0024 a0006c0006t0001g0082	6	86	0.0698	-8	c.942 others(27): Show c.942+42096_942+42103delCACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213426836	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02717.hp1 HG02922.hp2 others(4): Show HG02293.hp2 HG02717.hp1 HG02922.hp2 HG03195.hp1 HG03471.hp2 HG03579.hp1 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0061 a0003c0003t0001g0031 a0003c0003t0001g0041 a0003c0003t0001g0080 a0003c0003t0002g0042	7	86	0.0814	-8	c.942 others(27): Show c.942+51757_942+51764delCACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213468496	TATATATA others(1): Show TATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG01256.hp2 others(18): 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 NA18977.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	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 others(18): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0067 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0062	21	86	0.2442	-8	c.943 others(27): Show c.943-21459_943-21452delGATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213478670	CACATTAA others(1): Show CACATTAAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp1 HG00735.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0027 a0002c0002t0001g0077 a0001c0001t0001g0027 a0002c0002t0001g0077	2	86	0.0233	-8	c.943 others(27): Show c.943-11276_943-11269delACATTAAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213538815	GTATCTAT others(1): Show GTATCTATT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03490.hp1 HG01891.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	2	86	0.0233	-8	c.107 others(29): Show c.1070+48741_1070+48748delTTATCTAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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