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
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	138	0.0072	17	c.372 others(36): Show c.372+19716_372+19717insATATTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18946.hp2 NA19056.hp1 NA18522.hp2 NA18946.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0001g0119 a0001c0001t0005g0070 a0001c0001t0001g0030 a0001c0001t0001g0119 a0001c0001t0005g0070	3	140	0.0214	17	c.372 others(36): Show c.372+19716_372+19717insATATATTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0264 a0001c0002t0010g0264	1	138	0.0072	17	c.372 others(36): Show c.372+19716_372+19717insATATATATTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615542	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp1 others(34): Show HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG01069.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp1 HG02647.hp1 HG03491.hp2 HG03516.hp1 HG03710.hp2 NA18939.hp2 NA18946.hp1 NA18950.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18975.hp1 NA18991.hp1 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19060.hp1 NA19065.hp1 NA19077.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0027 a0001c0001t0032 a0002c0009t0003	a0001c0001t0001g0057 a0001c0001t0001g0123 a0001c0001t0001g0124 others(34): Show a0001c0001t0001g0057 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0252 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0318 a0001c0001t0010g0309 a0001c0001t0011g0324 a0001c0001t0027g0128 a0001c0001t0032g0316 a0002c0009t0003g0323	37	241	0.1535	17	c.372 others(36): Show c.372+19519_372+19520insTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89842208	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp1 NA18947.hp1 others(1): Show HG01928.hp2 HG01952.hp1 NA18947.hp1 NA19067.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0004 a0001c0003t0001 a0003c0004t0001 a0001c0001t0004 a0001c0003t0001 a0003c0004t0001	a0001c0001t0004g0076 a0001c0003t0001g0089 a0001c0003t0001g0138 others(1): Show a0001c0001t0004g0076 a0001c0003t0001g0089 a0001c0003t0001g0138 a0003c0004t0001g0046	4	98	0.0408	17	c.245 others(34): Show c.245-3108_245-3092dupTTTTTTTTTTTTTTTTT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(10): Show ACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0002 a0014c0015t0002	a0014c0015t0002g0277 a0014c0015t0002g0277	1	322	0.0031	17	c.180 others(34): Show c.1807-522_1807-521insCATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0249 a0006c0023t0001g0249	1	30	0.0333	17	c.180 others(34): Show c.1807-513_1807-512insAAAAAAAAATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01167.hp1 others(7): Show HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01993.hp1 HG02257.hp1 HG02273.hp1 HG02698.hp1 HG02809.hp1 NA18971.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0003t0001 a0004c0005t0001 a0001c0001t0001 a0001c0003t0001 a0004c0005t0001	a0001c0001t0001g0158 a0001c0001t0001g0185 a0001c0001t0001g0286 others(7): Show a0001c0001t0001g0158 a0001c0001t0001g0185 a0001c0001t0001g0286 a0001c0003t0001g0137 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0306 a0004c0005t0001g0307	10	39	0.2564	17	c.180 others(34): Show c.1807-513_1807-512insAAAAAAATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	30	0.0333	17	c.180 others(34): Show c.1807-513_1807-512insAAAAATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04204.hp2 HG03688.hp2 HG04204.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0298 a0004c0005t0001g0305 a0004c0005t0001g0298 a0004c0005t0001g0305	2	31	0.0645	17	c.180 others(34): Show c.1807-513_1807-512insAAATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01069.hp2 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	43	0.0465	17	c.-40 others(28): Show c.-4074_-4073insAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4442017	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18939.hp1 HG00597.hp2 NA18939.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0297 a0003c0005t0001g0114 a0001c0001t0001g0297 a0003c0005t0001g0114	2	355	0.0056	17	c.265 others(34): Show c.265+2294_265+2295insGTGTGTGTGTGTGTGTG	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11			chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(10): Show CCTTCCTTCCTTCTCTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0026 a0001c0004t0001g0026	1	179	0.0056	17	c.111 others(36): Show c.1113+5386_1113+5387insCCTTCCTTCTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458621	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01884.hp1 others(7): Show HG00099.hp1 HG00280.hp1 HG01884.hp1 HG01884.hp2 HG02129.hp1 HG03209.hp1 HG04115.hp1 NA18943.hp2 NA18954.hp1 NA18971.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0028 a0003c0005 a0003c0020 a0003c0021	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0003 a0001c0009t0001 a0001c0028t0003 a0003c0005t0001 a0003c0020t0001 a0003c0021t0003	a0001c0001t0001g0335 a0001c0001t0002g0333 a0001c0003t0001g0309 others(7): Show a0001c0001t0001g0335 a0001c0001t0002g0333 a0001c0003t0001g0309 a0001c0007t0003g0158 a0001c0009t0001g0005 a0001c0028t0003g0173 a0003c0005t0001g0176 a0003c0020t0001g0115 a0003c0021t0003g0002 a0003c0021t0003g0188	10	317	0.0315	17	c.111 others(36): Show c.1113+5419_1113+5435dupTCTTTCTTTCTTTCTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	46	0.0217	17	c.111 others(36): Show c.1114-9851_1114-9850insCTTTCTTTCTTTCTTTC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11			chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468766	T T	TTTCTTTC others(10): Show TTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0156 a0003c0005t0001g0156	1	360	0.0028	17	c.111 others(36): Show c.1114-9800_1114-9799insCTTTCTCTCTCTTCTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0024 a0005c0005t0001g0024	1	35	0.0286	17	c.-12 others(28): Show c.-1200_-1199insAAAAAAAAATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG04115.hp1 others(3): Show HG02735.hp1 HG02735.hp2 HG04115.hp1 HG04199.hp1 NA18964.hp2 NA18980.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0005c0005t0001g0009 a0005c0005t0001g0010	6	40	0.1500	17	c.-12 others(28): Show c.-1200_-1199insAAAAAAAAAAATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	35	0.0286	17	c.-12 others(28): Show c.-1200_-1199insAAAAAAAAAAAAATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817758	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA18972.hp1 HG00544.hp1 NA18972.hp1	a0009 a0020 a0009 a0020	a0009c0025 a0020c0026 a0009c0025 a0020c0026	a0009c0025t0001 a0020c0026t0001 a0009c0025t0001 a0020c0026t0001	a0009c0025t0001g0253 a0020c0026t0001g0252 a0009c0025t0001g0253 a0020c0026t0001g0252	2	5	0.4000	17	c.-18 others(28): Show c.-1838_-1837insAAAAAAAAAAAAAAAAA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1737		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137334858	G G	GGTCTCTA others(10): Show GGTCTCTAAGAACATTTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01516.hp2 HG01884.hp1 others(30): Show HG01496.hp1 HG01516.hp2 HG01884.hp1 HG02080.hp2 HG02135.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG03831.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18953.hp2 NA18954.hp1 NA18968.hp2 NA18970.hp1 NA18983.hp1 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0014 a0001c0002t0019 a0002c0005t0002	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0064 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0010g0002 a0001c0001t0010g0012 a0001c0001t0011g0115 a0001c0001t0013g0137 a0001c0001t0017g0118 a0001c0001t0018g0009 a0001c0001t0021g0068 a0001c0001t0022g0006 a0001c0001t0024g0066 a0001c0001t0030g0113 a0001c0001t0031g0152 a0001c0002t0001g0001 a0001c0002t0006g0090 a0001c0002t0007g0080 a0001c0002t0014g0017 a0001c0002t0019g0010 a0002c0005t0002g0104	33	152	0.2171	17	c.187 others(36): Show c.187-67804_187-67803insTAAATGTTCTTAGAGAC	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01934.hp2 HG02602.hp2 others(3): Show HG00621.hp2 HG01934.hp2 HG02602.hp2 HG04204.hp1 NA18969.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0085 a0001c0001t0001g0126 a0001c0001t0002g0058 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0126 a0001c0001t0002g0058 a0001c0001t0002g0122 a0001c0001t0004g0086 a0001c0001t0011g0039	6	67	0.0896	17	c.590 others(34): Show c.590-7911_590-7895dupTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166847647	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	42	0.0238	17	c.589 others(36): Show c.589+41482_589+41483insTATATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01934.hp2 HG01981.hp2 others(8): Show HG00621.hp2 HG01934.hp2 HG01981.hp2 HG02258.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 NA18947.hp2 NA18954.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 others(8): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0106 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0003g0042 a0001c0001t0003g0120 a0001c0001t0011g0039 a0001c0002t0001g0010 a0001c0007t0001g0139	11	17	0.6471	17	c.190 others(34): Show c.190-2517_190-2501dupTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116734	C C	CATATAGT others(10): Show CATATAGTATATATACGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	142	0.0070	17	c.190 others(36): Show c.190-54198_190-54197insACGTATATATACTATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14044117	A A	ATCCATGT others(10): Show ATCCATGTAATATTAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp2 others(83): Show HG00280.hp1 HG00408.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0013 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0017 a0001c0004t0001 a0001c0004t0002 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0058 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0206 a0001c0001t0004g0178 a0001c0001t0004g0183 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0196 a0001c0001t0004g0205 a0001c0001t0005g0146 a0001c0002t0001g0003 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0002g0167 a0001c0002t0003g0180 a0001c0002t0003g0197 a0001c0002t0009g0172 a0001c0002t0011g0148 a0001c0002t0013g0151 a0001c0002t0018g0185 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0088 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0002g0090 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0003t0002g0103 a0001c0003t0005g0089 a0001c0003t0008g0091 a0001c0003t0008g0092 a0001c0003t0017g0073 a0001c0004t0001g0067 a0001c0004t0001g0070 a0001c0004t0001g0077 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0087 a0001c0004t0001g0096 a0001c0004t0001g0107 a0001c0004t0001g0112 a0001c0004t0001g0117 a0001c0004t0002g0074 a0001c0004t0002g0075 a0001c0009t0001g0170	86	222	0.3874	17	c.479 others(34): Show c.479+2471_479+2487dupAATATTAAAGTCCATGT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14057831	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02056.hp2 HG03688.hp2 others(2): Show HG01081.hp2 HG02056.hp2 HG03688.hp2 NA18970.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0005	a0001c0001t0001g0145 a0001c0001t0004g0178 a0001c0002t0001g0174 others(2): Show a0001c0001t0001g0145 a0001c0001t0004g0178 a0001c0002t0001g0174 a0001c0002t0002g0167 a0001c0003t0005g0089	5	189	0.0265	17	c.479 others(36): Show c.479+16189_479+16190insAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160739	A A	ATATATAT others(10): Show ATATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	121	0.0083	17	c.825 others(36): Show c.825+25171_825+25172insTATATATATTTATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15			chr11	TogoVar
SPON1_chr11_13957723_14273133	14178045	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18970.hp2 NA18998.hp1 others(1): Show HG03098.hp2 NA18970.hp2 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0002t0001g0037 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0129 a0001c0002t0001g0037 a0001c0002t0001g0144	4	103	0.0388	17	c.825 others(36): Show c.825+42477_825+42478insCACACACACACACACAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15			chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG03579.hp1 HG01192.hp2 HG01243.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0013 a0001c0002t0001g0023 a0001c0002t0003g0201 a0001c0001t0001g0013 a0001c0002t0001g0023 a0001c0002t0003g0201	3	69	0.0435	17	c.69 others(28): Show c.6984_*6985insAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPON1_chr11_13957723_14273133	14272682	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG03239.hp1 HG03239.hp2 others(1): Show HG01258.hp1 HG03239.hp1 HG03239.hp2 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001	a0001c0002t0003g0180 a0001c0003t0001g0109 a0001c0003t0001g0177 others(1): Show a0001c0002t0003g0180 a0001c0003t0001g0109 a0001c0003t0001g0177 a0001c0004t0001g0105	4	170	0.0235	17	c.69 others(28): Show c.6995_*6996insAAAAAAAAAAAAAAAAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4550		chr11	TogoVar
SPON1_chr11_13957723_14273133	14272682	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0224 a0001c0002t0003g0224	1	167	0.0060	17	c.69 others(28): Show c.6995_*6996insAAAAAAAAAAAACAAAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4550		chr11	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0182 a0001c0001t0017g0182	1	202	0.0050	17	c.44 others(28): Show c.4443_*4444insAAAAAAAAAAAAATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGGAGAGA others(10): Show GGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	32	0.0313	17	c.24- others(34): Show c.24-19695_24-19694insTCTCTCTCTCTCTCTCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830606	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	314	0.0032	17	c.24- others(34): Show c.24-19721_24-19720insCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120903362	C C	CCCGCAGC others(10): Show CCCGCAGCTGCGGCGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(280): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(279): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0002g0001 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0005g0080 a0001c0001t0008g0066 a0001c0001t0008g0067 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0010 a0001c0001t0010g0011 a0001c0001t0010g0012 a0001c0001t0010g0013 a0001c0001t0011g0027 a0001c0001t0011g0034 a0001c0001t0011g0038 a0001c0001t0011g0047 a0001c0001t0011g0052 a0001c0001t0011g0053 a0001c0001t0011g0141 a0001c0001t0011g0144 a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0013g0035 a0001c0001t0013g0049 a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0014g0093 a0001c0001t0015g0023 a0001c0001t0015g0024 a0001c0001t0015g0058 a0001c0001t0017g0128 a0001c0001t0017g0155 a0001c0001t0018g0299 a0001c0001t0018g0303 a0001c0001t0022g0042 a0001c0001t0023g0146 a0001c0001t0024g0186 a0001c0001t0028g0063 a0001c0001t0029g0173 a0001c0001t0031g0219 a0001c0001t0032g0256 a0001c0001t0033g0257 a0001c0001t0034g0273 a0001c0001t0035g0252 a0001c0001t0036g0224 a0001c0001t0037g0220 a0001c0001t0038g0263 a0001c0001t0039g0277 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0075 a0001c0002t0005g0077 a0001c0002t0005g0078 a0001c0002t0005g0079 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0090 a0001c0002t0005g0098 a0001c0002t0005g0100 a0001c0002t0005g0101 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0106 a0001c0002t0005g0109 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0147 a0001c0002t0005g0151 a0001c0002t0006g0071 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0087 a0001c0002t0006g0092 a0001c0002t0006g0094 a0001c0002t0006g0095 a0001c0002t0006g0096 a0001c0002t0006g0097 a0001c0002t0006g0102 a0001c0002t0006g0104 a0001c0002t0006g0107 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0150 a0001c0002t0008g0099 a0001c0002t0025g0108 a0001c0002t0026g0091 a0001c0002t0027g0076	283	318	0.8899	17	c.23+ others(30): Show c.23+482_23+483insAGCCGCCGCAGCTGCGG	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38310153	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	20	0.0500	17	c.207 others(36): Show c.207+10607_207+10608insGTGTGTGTGTGTGTGTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED1_chr15_38247836_38362249	38357899	T T	TCCCCCTC others(10): Show TCCCCCTCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	368	0.0027	17	c.62 others(28): Show c.6235_*6236insCCCCCTCCCCCCCCCCC	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding		651		chr15	TogoVar
SPRED1_chr15_38247836_38362249	38360847	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA19083.hp2 NA19089.hp2 NA18949.hp2 NA19083.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0084 a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0084	3	23	0.1304	17	c.91 others(28): Show c.9183_*9184insTTTTTTTTTTTTTTTTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding		3599		chr15	TogoVar
SPRING1_chr12_116705171_116743069	116711025	A A	ACACACAC others(10): Show ACACACACACACACACAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0055 a0001c0001t0044g0055	1	178	0.0056	17	c.67 others(28): Show c.6784_*6785insCTGTGTGTGTGTGTGTG	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	5/5	6784		chr12	TogoVar
SPRN_chr10_133415666_133429625	133421900	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0057 a0002c0002t0034g0057	1	162	0.0062	17	c.13 others(28): Show c.1325_*1326insCCCCCCCCCCCCCCCCC	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding	2/2	1325		chr10	TogoVar
SPRR1A_chr1_152979081_152990814	152979830	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	373	0.0054	17	c.-43 others(28): Show c.-4315_-4314insCTCTCTCTCTCTCTCTC	SPRR1A	ENSG00000169474.5	transcript	ENST00000368762.2	protein_coding		4250		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01255.hp1 others(6): Show HG00280.hp1 HG00609.hp1 HG01255.hp1 HG01358.hp1 HG02886.hp2 HG03704.hp2 NA18612.hp1 NA19005.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0088 a0001c0001t0102 a0001c0001t0131	a0001c0001t0002g0202 a0001c0001t0003g0227 a0001c0001t0011g0213 others(6): Show a0001c0001t0002g0202 a0001c0001t0003g0227 a0001c0001t0011g0213 a0001c0001t0012g0174 a0001c0001t0017g0200 a0001c0001t0019g0201 a0001c0001t0088g0204 a0001c0001t0102g0165 a0001c0001t0131g0167	9	124	0.0726	17	c.-28 others(36): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155770708	C C	CTCACAAT others(10): Show CTCACAATGAATGGCTCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0007 a0001c0002t0074g0007	1	229	0.0044	17	c.-10 others(36): Show c.-107+2574_-107+2590dupCACAATGAATGGCTCTT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY4_chr5_142305430_142330021	142311935	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG02083.hp1 HG02135.hp1 HG01952.hp2 HG02083.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0069 a0001c0001t0034 a0001c0001t0069	a0001c0001t0034g0029 a0001c0001t0069g0205 a0001c0001t0034g0029 a0001c0001t0069g0205	3	29	0.1034	17	c.22 others(28): Show c.2273_*2274insACACACACACACACACA	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2273		chr5	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 NA21309.hp2 HG02630.hp1 HG02895.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0014 a0001c0001t0022 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022	a0001c0001t0011g0151 a0001c0001t0014g0223 a0001c0001t0022g0211 a0001c0001t0011g0151 a0001c0001t0014g0223 a0001c0001t0022g0211	3	44	0.0682	17	c.694 others(34): Show c.694+4582_694+4598dupTTTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141112644	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0054 a0001c0002t0057g0054	1	98	0.0102	17	c.695 others(36): Show c.695-34489_695-34473dupAAAAAAAAAAAAAAAAA	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02165.hp2 NA18979.hp2 HG00642.hp2 HG02165.hp2 NA18979.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0027 a0001c0001 a0024c0027	a0001c0001t0002 a0001c0001t0004 a0024c0027t0008 a0001c0001t0002 a0001c0001t0004 a0024c0027t0008	a0001c0001t0002g0085 a0001c0001t0004g0087 a0024c0027t0008g0109 a0001c0001t0002g0085 a0001c0001t0004g0087 a0024c0027t0008g0109	3	165	0.0182	17	c.258 others(36): Show c.2587+1675_2587+1691dupAAAAAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG03098.hp2 others(3): Show HG01496.hp1 HG01891.hp1 HG03098.hp2 NA19012.hp1 NA19083.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0113 a0001c0001t0001g0149 others(3): Show a0001c0001t0001g0081 a0001c0001t0001g0113 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0158	6	27	0.2222	17	c.-3- others(32): Show c.-3-5066_-3-5050dupAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0280 a0002c0004t0002g0280	1	202	0.0050	17	c.363 others(34): Show c.363+1434_363+1435insATATATATATATTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar

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