Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPRY1_chr4_123391795_123408755	123392545	C C	CTTTTTTT others(11): Show CTTTTTTTTTTCTTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	410	0.0024	18	c.-46 others(29): Show c.-4689_-4688insTTTTTTTTTTCTTTTTCT	SPRY1	ENSG00000164056.11	transcript	ENST00000651917.1	protein_coding		4249		chr4	TogoVar
SPRY3_chrX_155607586_155787459	155680145	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0078 a0001c0001t0007 a0001c0001t0078	a0001c0001t0007g0086 a0001c0001t0078g0087 a0001c0001t0007g0086 a0001c0001t0078g0087	2	231	0.0087	18	c.-28 others(39): Show c.-282+67527_-282+67544dupGTGTGTGTGTGTGTGTGT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155716981	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18940.hp1 HG01496.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0083 a0001c0001t0002 a0001c0001t0083	a0001c0001t0002g0216 a0001c0001t0083g0217 a0001c0001t0002g0216 a0001c0001t0083g0217	2	231	0.0087	18	c.-28 others(39): Show c.-281-50967_-281-50950dupTATATATATATATATATA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767690	A A	AGGAGGAG others(11): Show AGGAGGAGGAGAAAGAGGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp1 HG03579.hp1 others(1): Show HG01934.hp1 HG02451.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0036 a0001c0001t0037 others(1): Show a0001c0001t0015 a0001c0001t0036 a0001c0001t0037 a0001c0002t0138	a0001c0001t0015g0075 a0001c0001t0036g0098 a0001c0001t0037g0097 others(1): Show a0001c0001t0015g0075 a0001c0001t0036g0098 a0001c0001t0037g0097 a0001c0002t0138g0017	4	231	0.0173	18	c.-28 others(35): Show c.-281-257_-281-256insGGCGGAGGAGGAGAAAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767706	A A	AGAGGAGG others(11): Show AGAGGAGGAGGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG02896.hp2 others(6): Show HG02630.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0020 a0001c0001t0075 others(2): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0075 a0001c0001t0080 a0001c0002t0125	a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0082 others(6): Show a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0003g0229 a0001c0001t0020g0120 a0001c0001t0020g0128 a0001c0001t0075g0141 a0001c0001t0080g0130 a0001c0002t0125g0215	9	231	0.0390	18	c.-28 others(35): Show c.-281-242_-281-225dupAAGAGGAGGAGGAGGAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767706	A A	AGAGGAGG others(11): Show AGAGGAGGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0049 a0001c0001t0104g0049	1	231	0.0043	18	c.-28 others(35): Show c.-281-243_-281-242insGAGAGGAGGAGGAGGAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767720	A A	AAGAGGAG others(11): Show AAGAGGAGGAGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01069.hp1 others(68): Show HG00544.hp1 HG00544.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18940.hp1 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18977.hp1 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19084.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0040 a0001c0001t0044 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0001t0069 a0001c0001t0070 a0001c0001t0077 a0001c0001t0081 a0001c0001t0083 a0001c0001t0090 a0001c0001t0095 a0001c0001t0102 a0001c0001t0103 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0122 a0001c0001t0123 a0001c0001t0127 a0001c0001t0129 a0001c0001t0130 a0001c0001t0132 a0001c0001t0142 a0001c0001t0143 a0001c0001t0145 a0001c0002t0028 a0001c0002t0045 a0001c0002t0140 a0001c0002t0141 a0002c0003t0118	a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0214 others(68): Show a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0214 a0001c0001t0002g0127 a0001c0001t0003g0015 a0001c0001t0003g0110 a0001c0001t0004g0156 a0001c0001t0005g0092 a0001c0001t0005g0161 a0001c0001t0006g0011 a0001c0001t0006g0021 a0001c0001t0006g0029 a0001c0001t0006g0048 a0001c0001t0006g0207 a0001c0001t0007g0086 a0001c0001t0008g0003 a0001c0001t0008g0005 a0001c0001t0010g0001 a0001c0001t0010g0083 a0001c0001t0010g0104 a0001c0001t0010g0149 a0001c0001t0014g0158 a0001c0001t0015g0096 a0001c0001t0017g0116 a0001c0001t0018g0033 a0001c0001t0018g0034 a0001c0001t0019g0068 a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0027g0026 a0001c0001t0030g0006 a0001c0001t0031g0031 a0001c0001t0031g0037 a0001c0001t0032g0188 a0001c0001t0035g0187 a0001c0001t0040g0129 a0001c0001t0044g0074 a0001c0001t0053g0053 a0001c0001t0057g0159 a0001c0001t0058g0227 a0001c0001t0069g0109 a0001c0001t0070g0038 a0001c0001t0077g0078 a0001c0001t0081g0108 a0001c0001t0083g0217 a0001c0001t0090g0225 a0001c0001t0095g0035 a0001c0001t0102g0209 a0001c0001t0103g0112 a0001c0001t0106g0018 a0001c0001t0109g0135 a0001c0001t0110g0175 a0001c0001t0111g0050 a0001c0001t0112g0213 a0001c0001t0113g0019 a0001c0001t0114g0137 a0001c0001t0115g0100 a0001c0001t0122g0107 a0001c0001t0123g0009 a0001c0001t0127g0144 a0001c0001t0129g0134 a0001c0001t0130g0154 a0001c0001t0132g0226 a0001c0001t0142g0230 a0001c0001t0143g0202 a0001c0001t0145g0190 a0001c0002t0028g0069 a0001c0002t0045g0054 a0001c0002t0140g0142 a0001c0002t0141g0210 a0002c0003t0118g0197	71	231	0.3074	18	c.-28 others(35): Show c.-281-206_-281-189dupGAGAGGAGGAGGAGGAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767738	G G	GAGAGGAG others(11): Show GAGAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp2 HG03834.hp2 others(1): Show HG03486.hp2 HG03540.hp2 HG03834.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0052 a0001c0002t0084 others(1): Show a0001c0001t0004 a0001c0002t0052 a0001c0002t0084 a0001c0002t0100	a0001c0001t0004g0145 a0001c0002t0052g0176 a0001c0002t0084g0020 others(1): Show a0001c0001t0004g0145 a0001c0002t0052g0176 a0001c0002t0084g0020 a0001c0002t0100g0032	4	231	0.0173	18	c.-28 others(35): Show c.-281-207_-281-206insAAGAGGAGGAGGAGGAGA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767746	G G	GAGGAGGA others(11): Show GAGGAGGAGAGAGAGGAGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	231	0.0043	18	c.-28 others(35): Show c.-281-199_-281-198insTAGGAGGAGAGAGAGGAG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767757	A A	AGAGGAGG others(11): Show AGAGGAGGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	231	0.0043	18	c.-28 others(35): Show c.-281-193_-281-192insAGAGAGGAGGAGGAGGAG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY4_chr5_142305430_142330021	142311935	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00597.hp2 others(49): Show HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01071.hp2 HG01167.hp2 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01928.hp1 HG02015.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02818.hp2 HG03490.hp2 HG03492.hp1 NA18906.hp2 NA18947.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18980.hp2 NA18982.hp1 NA18993.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19066.hp2 NA19079.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0015 a0001c0001t0021 others(10): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0021 a0001c0001t0030 a0001c0001t0033 a0001c0001t0054 a0001c0001t0063 a0001c0001t0068 a0001c0001t0081 a0001c0001t0097 a0001c0001t0098 a0001c0003t0021 a0002c0002t0048	a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0041 others(24): Show a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0041 a0001c0001t0003g0063 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0205 a0001c0001t0015g0026 a0001c0001t0015g0030 a0001c0001t0015g0064 a0001c0001t0021g0155 a0001c0001t0021g0204 a0001c0001t0021g0214 a0001c0001t0030g0185 a0001c0001t0030g0198 a0001c0001t0033g0028 a0001c0001t0054g0125 a0001c0001t0063g0109 a0001c0001t0068g0085 a0001c0001t0081g0133 a0001c0001t0097g0172 a0001c0001t0098g0173 a0001c0003t0021g0197 a0002c0002t0048g0135	52	378	0.1376	18	c.22 others(29): Show c.2256_*2273dupACACACACACACACACAC	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2273		chr5	TogoVar
SPRYD3_chr12_53059316_53084390	53062374	A A	AGGCAGCC others(11): Show AGGCAGCCTGTCCGCCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	404	0.0025	18	c.34 others(29): Show c.3440_*3457dupCAAGGCGGACAGGCTGCC	SPRYD3	ENSG00000167778.9	transcript	ENST00000301463.9	protein_coding		1941		chr12	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02132.hp1 HG02622.hp1 others(4): Show HG02109.hp1 HG02132.hp1 HG02622.hp1 HG03225.hp1 HG06807.hp1 NA18522.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0011 a0001c0001t0036 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0036 a0001c0001t0048 a0001c0005t0004	a0001c0001t0003g0153 a0001c0001t0011g0198 a0001c0001t0011g0228 others(4): Show a0001c0001t0003g0153 a0001c0001t0011g0198 a0001c0001t0011g0228 a0001c0001t0011g0231 a0001c0001t0036g0049 a0001c0001t0048g0205 a0001c0005t0004g0289	7	370	0.0189	18	c.694 others(35): Show c.694+4581_694+4598dupTTTTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141091870	C C	CTTCCTTT others(11): Show CTTCCTTTTGTCAGACAGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0020 a0001c0001t0053g0020	1	254	0.0039	18	c.694 others(37): Show c.694+25082_694+25099dupTCAGACAGTTTCCTTTTG	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPSB4_chr3_141046347_141153611	141135338	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02273.hp1 NA20300.hp1 HG01257.hp1 HG02273.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0036 a0001c0002t0022 a0001c0002t0036	a0001c0002t0022g0094 a0001c0002t0022g0129 a0001c0002t0036g0143 a0001c0002t0022g0094 a0001c0002t0022g0129 a0001c0002t0036g0143	3	254	0.0118	18	c.695 others(37): Show c.695-11796_695-11779dupTATTATTATTATTATTAT	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTTT others(11): Show ATTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0005 a0014c0028t0005	a0014c0028t0005g0044 a0014c0028t0005g0044	1	370	0.0027	18	c.258 others(37): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAATAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03654.hp2 HG03669.hp1 others(1): Show HG02135.hp1 HG03654.hp2 HG03669.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0142 a0001c0001t0001g0166	4	312	0.0128	18	c.-3- others(33): Show c.-3-5067_-3-5050dupAAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128562992	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG03516.hp1 HG02723.hp1 HG02886.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0016 a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0016	3	312	0.0096	18	c.-3- others(33): Show c.-3-3743_-3-3742insGTATATATATATATATAT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54465666	A A	ATATATAT others(11): Show ATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	370	0.0027	18	c.-48 others(35): Show c.-48+9151_-48+9152insATATATATATATATCTAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	370	0.0027	18	c.-48 others(37): Show c.-48+10072_-48+10089dupAAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18959.hp1 NA19074.hp1 HG01346.hp1 NA18959.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0040 a0001c0001t0002 a0001c0001t0005 a0001c0001t0040	a0001c0001t0002g0020 a0001c0001t0005g0206 a0001c0001t0040g0300 a0001c0001t0002g0020 a0001c0001t0005g0206 a0001c0001t0040g0300	3	370	0.0081	18	c.-48 others(37): Show c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522657	A A	AGGAGAGA others(11): Show AGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02698.hp2 NA19240.hp1 HG00140.hp2 HG02698.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0027 a0001c0003t0036 a0001c0011t0003 a0001c0003t0027 a0001c0003t0036 a0001c0011t0003	a0001c0003t0027g0054 a0001c0003t0036g0361 a0001c0011t0003g0171 a0001c0003t0027g0054 a0001c0003t0036g0361 a0001c0011t0003g0171	3	370	0.0081	18	c.-47 others(35): Show c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAAAGA others(11): Show GAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0259 a0001c0013t0015g0259	1	370	0.0027	18	c.-47 others(35): Show c.-47-3668_-47-3667insGAAAGAAAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54562533	C C	CTTTTTTT others(11): Show CTTTTTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG02055.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0180 a0001c0001t0018g0303 a0001c0001t0018g0180 a0001c0001t0018g0303	2	370	0.0054	18	c.148 others(37): Show c.148+35974_148+35975insCTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54562696	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 NA18522.hp2 HG02109.hp1 HG02559.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0003 a0001c0005t0011 a0001c0003t0003 a0001c0005t0003 a0001c0005t0011	a0001c0003t0003g0036 a0001c0005t0003g0047 a0001c0005t0011g0038 a0001c0003t0003g0036 a0001c0005t0003g0047 a0001c0005t0011g0038	3	370	0.0081	18	c.148 others(37): Show c.148+36152_148+36169dupGTGTGTGTGTGTGTGTGT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG02055.hp1 others(7): Show HG00741.hp2 HG01175.hp2 HG02055.hp1 HG02738.hp2 HG02809.hp1 HG04204.hp2 NA18994.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0004t0004 a0001c0008t0005 a0001c0008t0026	a0001c0001t0005g0221 a0001c0001t0007g0347 a0001c0001t0014g0105 others(7): Show a0001c0001t0005g0221 a0001c0001t0007g0347 a0001c0001t0014g0105 a0001c0001t0019g0031 a0001c0004t0004g0170 a0001c0004t0004g0318 a0001c0008t0005g0046 a0001c0008t0005g0244 a0001c0008t0005g0306 a0001c0008t0026g0365	10	370	0.0270	18	c.149 others(37): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01975.hp1 HG02630.hp2 others(2): Show HG01169.hp2 HG01975.hp1 HG02630.hp2 NA18974.hp1 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0002c0006 a0001c0003 a0001c0009 a0002c0006	a0001c0003t0003 a0001c0009t0007 a0002c0006t0003 a0001c0003t0003 a0001c0009t0007 a0002c0006t0003	a0001c0003t0003g0257 a0001c0009t0007g0288 a0001c0009t0007g0336 others(2): Show a0001c0003t0003g0257 a0001c0009t0007g0288 a0001c0009t0007g0336 a0002c0006t0003g0151 a0002c0006t0003g0184	5	370	0.0135	18	c.149 others(37): Show c.149-17509_149-17492dupTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0176 a0001c0005t0008g0176	1	370	0.0027	18	c.149 others(35): Show c.149-4258_149-4241dupTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40479675	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG03209.hp2 HG01109.hp1 HG01168.hp1 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0004c0014t0001 a0001c0001t0001 a0004c0014t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0004c0014t0001g0055 a0001c0001t0001g0009 a0001c0001t0001g0014 a0004c0014t0001g0055	3	234	0.0128	18	c.169 others(35): Show c.169+6896_169+6913dupATATATATATATATATAT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64744771	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02572.hp2 HG02647.hp2 others(3): Show HG01192.hp2 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG03195.hp2 HG06807.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0012 a0016	a0002c0003 a0002c0006 a0003c0039 others(3): Show a0002c0003 a0002c0006 a0003c0039 a0005c0036 a0012c0025 a0016c0050	a0002c0003t0008 a0002c0006t0008 a0003c0039t0008 others(3): Show a0002c0003t0008 a0002c0006t0008 a0003c0039t0008 a0005c0036t0017 a0012c0025t0008 a0016c0050t0017	a0002c0003t0008g0100 a0002c0006t0008g0049 a0003c0039t0008g0070 others(3): Show a0002c0003t0008g0100 a0002c0006t0008g0049 a0003c0039t0008g0070 a0005c0036t0017g0209 a0012c0025t0008g0120 a0016c0050t0017g0041	6	268	0.0224	18	c.45 others(29): Show c.4517_*4534dupAAAAAAAAAAAAAAAAAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding		1511		chr14	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02818.hp1 others(1): Show HG02630.hp2 HG02647.hp1 HG02818.hp1 NA18906.hp2	a0002 a0028 a0002 a0028	a0002c0003 a0002c0079 a0028c0066 a0002c0003 a0002c0079 a0028c0066	a0002c0003t0013 a0002c0079t0013 a0028c0066t0013 a0002c0003t0013 a0002c0079t0013 a0028c0066t0013	a0002c0003t0013g0116 a0002c0003t0013g0117 a0002c0079t0013g0198 others(1): Show a0002c0003t0013g0116 a0002c0003t0013g0117 a0002c0079t0013g0198 a0028c0066t0013g0180	4	268	0.0149	18	c.660 others(37): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64765017	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0014 a0001c0074t0014	a0001c0074t0014g0258 a0001c0074t0014g0258	1	268	0.0037	18	c.634 others(37): Show c.6345+1708_6345+1709insACACACACACACACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64765041	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18993.hp2 HG02818.hp2 NA18993.hp2	a0002 a0032 a0002 a0032	a0002c0006 a0032c0056 a0002c0006 a0032c0056	a0002c0006t0001 a0032c0056t0001 a0002c0006t0001 a0032c0056t0001	a0002c0006t0001g0200 a0032c0056t0001g0090 a0002c0006t0001g0200 a0032c0056t0001g0090	2	268	0.0075	18	c.634 others(37): Show c.6345+1684_6345+1685insGCACACACACACACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92050811	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0253 a0001c0001t0011g0253	1	358	0.0028	18	c.781 others(33): Show c.781-762_781-745dupAAAAAAAAAAAAAAAAAA	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	8/14			chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77531420	T T	TTTCTTCT others(11): Show TTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	246	0.0041	18	c.130 others(37): Show c.1304-9857_1304-9840dupGAAGAAGAAGAAGAAGAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531460	T T	TCCTCCTC others(11): Show TCCTCCTCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0042 a0003c0009t0042	a0003c0009t0042g0129 a0003c0009t0042g0129	1	246	0.0041	18	c.130 others(37): Show c.1304-9880_1304-9879insGGGAGGGGGAGGAGGAGG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534588	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(44): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp1 NA18948.hp1 NA19091.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0051 a0001c0011t0004 a0001c0012t0004 a0001c0013t0041	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(44): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0017 a0001c0001t0004g0111 a0001c0001t0004g0228 a0001c0001t0005g0045 a0001c0001t0005g0183 a0001c0001t0006g0053 a0001c0001t0014g0132 a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 a0001c0002t0007g0241 a0001c0002t0007g0243 a0001c0002t0010g0066 a0001c0002t0010g0067 a0001c0002t0017g0214 a0001c0002t0019g0235 a0001c0002t0051g0244 a0001c0011t0004g0063 a0001c0012t0004g0230 a0001c0013t0041g0079	47	246	0.1911	18	c.130 others(39): Show c.1304-13008_1304-13007insGTGTGTGTGTGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534588	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA21309.hp1 HG01884.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0023 a0001c0001t0004 a0001c0003t0023	a0001c0001t0004g0029 a0001c0003t0023g0133 a0001c0001t0004g0029 a0001c0003t0023g0133	2	246	0.0081	18	c.130 others(39): Show c.1304-13008_1304-13007insGTGTGTGTGTGTGTGTAT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77539844	A A	AAACGTGT others(11): Show AAACGTGTAGTCAAAATCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG02965.hp1 HG02559.hp2 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0022 a0001c0006t0018 a0001c0006t0022	a0001c0006t0018g0018 a0001c0006t0018g0075 a0001c0006t0022g0004 a0001c0006t0018g0018 a0001c0006t0018g0075 a0001c0006t0022g0004	3	246	0.0122	18	c.130 others(39): Show c.1303+12251_1303+12252insAGATTTTGACTACACGTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77608919	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0133 a0001c0003t0023g0133	1	246	0.0041	18	c.132 others(35): Show c.132+7511_132+7528dupATTATTATTATTATTATT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	1/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02965.hp1 HG03130.hp2 others(1): Show HG02896.hp2 HG02965.hp1 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0003g0157	4	292	0.0137	18	c.118 others(37): Show c.118-10885_118-10884insTATATATATATATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	292	0.0034	18	c.304 others(35): Show c.304-5171_304-5154dupATATATATATATATATAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02976.hp2 HG01433.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0209 a0001c0001t0003g0108 a0001c0001t0001g0209 a0001c0001t0003g0108	2	344	0.0058	18	c.113 others(35): Show c.113-7848_113-7831dupACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443171	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp2 HG03654.hp1 others(10): Show HG02976.hp1 HG03225.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 NA18943.hp1 NA18951.hp1 NA18961.hp2 NA18974.hp1 NA18979.hp1 NA19055.hp2 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0199 a0001c0001t0001g0315 a0001c0001t0002g0045 others(10): Show a0001c0001t0001g0199 a0001c0001t0001g0315 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0288 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0019g0118	13	344	0.0378	18	c.113 others(35): Show c.113-7868_113-7867insAACACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443171	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00597.hp1 others(1): Show HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0056 a0001c0001t0002g0061 others(1): Show a0001c0001t0002g0039 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0068	4	344	0.0116	18	c.113 others(35): Show c.113-7868_113-7867insAAAACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443355	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	344	0.0029	18	c.113 others(35): Show c.113-8069_113-8052dupACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01433.hp1 HG00639.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0209 a0001c0001t0001g0166 a0001c0001t0001g0209	2	344	0.0058	18	c.113 others(35): Show c.113-8220_113-8203dupACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34462894	G G	GCACACAC others(11): Show GCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0083 a0001c0001t0023g0083	1	344	0.0029	18	c.-68 others(27): Show c.-688_-687insTGTGTGTGTGTGTGTGTG	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding		655		chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369288	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01257.hp1 HG01928.hp1 others(5): Show HG01071.hp2 HG01257.hp1 HG01928.hp1 HG02056.hp2 NA18946.hp1 NA19065.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 others(5): Show a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0174 a0001c0001t0002g0191	8	412	0.0194	18	c.-12 others(37): Show c.-126+2129_-126+2146dupGAAAGAAAGAAAGAAAGA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTSSB_chr3_161339798_161376517	161369314	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	412	0.0024	18	c.-12 others(37): Show c.-126+2120_-126+2121insAAGAAAGAAAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar

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