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
SPINK6_chr5_148198042_148220137	148209954	A A	ATATGTAT others(15): Show ATATGTATACATACACACGTACG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	413	0.0024	22	c.81+ others(37): Show c.81+3910_81+3911insCACGTACGTATGTATACATACA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148209972	G G	GTACATAT others(15): Show GTACATATGCATGTATACATACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(63): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG01243.hp2 HG01496.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02523.hp1 HG02572.hp2 HG02717.hp2 HG02886.hp2 HG03225.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19075.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0112 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0112 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0124 a0002c0002t0001g0129 a0002c0002t0003g0113	66	435	0.1517	22	c.81+ others(37): Show c.81+3917_81+3918insATATGCATGTATACATACATAC	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148209979	T T	TGTATGTA others(15): Show TGTATGTATACATACATACGTAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	358	0.0028	22	c.82- others(37): Show c.82-3918_82-3917insCATACGTACGTATGTATACATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210218	A A	ATATGTGT others(15): Show ATATGTGTTTCTGCATGCATATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	2	292	0.0068	22	c.82- others(37): Show c.82-3687_82-3686insGTTTCTGCATGCATATGTATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148212488	A A	ATATATAT others(15): Show ATATATATATAAAGTATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19090.hp1 HG02723.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0162 a0001c0001t0001g0080 a0001c0001t0001g0162	2	159	0.0126	22	c.82- others(37): Show c.82-1393_82-1372dupTATAAAGTATATATTTTATATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT2_chr19_38259573_38297615	38267330	C C	CACTGGGA others(15): Show CACTGGGAGTGTGGTGTTGCTGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	398	0.0025	22	c.106 others(39): Show c.106+2334_106+2355dupCTGGGAGTGTGGTGTTGCTGAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38268766	C C	CGCGTGTG others(15): Show CGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18967.hp1 HG02071.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0129 a0001c0001t0001g0140	2	139	0.0144	22	c.106 others(39): Show c.106+3769_106+3770insCGTGTGTGTGTGTGTGTGTGTG	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12526056	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01109.hp1 others(23): Show HG00642.hp2 HG00738.hp2 HG01109.hp1 HG01243.hp1 HG01496.hp1 HG01952.hp1 HG01975.hp1 HG02698.hp2 HG03195.hp1 NA18522.hp1 NA18522.hp2 NA18947.hp1 NA18952.hp1 NA18962.hp2 NA18975.hp2 NA18983.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19063.hp2 NA19065.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0145 others(23): Show a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0212 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0001t0003g0286 a0001c0001t0003g0314 a0001c0001t0003g0318 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0055 a0001c0001t0005g0070	26	34	0.7647	22	c.729 others(39): Show c.729+9398_729+9419dupGTGTGTGTGTGTGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01255.hp2 HG00609.hp1 HG01255.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0013 a0002c0009t0003 a0001c0001t0013 a0002c0009t0003	a0001c0001t0013g0009 a0002c0009t0003g0323 a0001c0001t0013g0009 a0002c0009t0003g0323	2	139	0.0144	22	c.372 others(41): Show c.372+19716_372+19717insATATATTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01433.hp1 HG01169.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0317 a0001c0001t0003g0277 a0001c0001t0003g0317	2	139	0.0144	22	c.372 others(41): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19065.hp1 HG01975.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0305 a0001c0001t0003g0288 a0001c0001t0003g0305	2	139	0.0144	22	c.372 others(41): Show c.372+19716_372+19717insATATATATATTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18939.hp2 NA20300.hp1 HG02602.hp1 NA18939.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0003 a0001c0001t0033	a0001c0001t0003g0287 a0001c0001t0003g0308 a0001c0001t0033g0313 a0001c0001t0003g0287 a0001c0001t0003g0308 a0001c0001t0033g0313	3	140	0.0214	22	c.372 others(41): Show c.372+19716_372+19717insATATATATATATTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615542	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp2 HG02451.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0279 a0001c0001t0003g0281	2	206	0.0097	22	c.372 others(41): Show c.372+19519_372+19520insTTTTTTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03471.hp1 HG02027.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0174 a0001c0001t0001g0100 a0001c0001t0001g0174	2	31	0.0645	22	c.180 others(39): Show c.1807-513_1807-512insAAAATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19030.hp2 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0175 a0001c0019t0001g0316 a0001c0001t0001g0175 a0001c0019t0001g0316	2	31	0.0645	22	c.180 others(39): Show c.1807-513_1807-512insAATATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	30	0.0333	22	c.180 others(39): Show c.1807-513_1807-492dupATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4531763	T T	TGGGGGAG others(15): Show TGGGGGAGAGTGTTCTGCGGGGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	402	0.0025	22	c.792 others(37): Show c.792+645_792+666dupGGGGGAGAGTGTTCTGCGGGGC	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4441981	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0010 a0010	a0010c0041 a0010c0041	a0010c0041t0003 a0010c0041t0003	a0010c0041t0003g0314 a0010c0041t0003g0314	1	301	0.0033	22	c.265 others(39): Show c.265+2258_265+2259insGTGTGTGTGTGTGTGTGTGTGT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11			chr17	TogoVar
SPNS3_chr17_4428940_4493204	4441983	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03927.hp1 HG00609.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0003 a0001c0001t0001 a0001c0024t0003	a0001c0001t0001g0263 a0001c0024t0003g0057 a0001c0001t0001g0263 a0001c0024t0003g0057	2	147	0.0136	22	c.265 others(39): Show c.265+2273_265+2294dupGTGTGTGTGTGTGTGTGTGTGT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TTTCTTCT others(15): Show TTTCTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	46	0.0217	22	c.111 others(41): Show c.1114-9849_1114-9848insCTTCTTTCTTTCTTTCTTTCTT	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(15): Show ATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0233 a0002c0002t0002g0233	1	35	0.0286	22	c.-12 others(33): Show c.-1200_-1199insAAAAAAAATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02145.hp2 NA19057.hp1 HG00621.hp2 HG02145.hp2 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0225 a0002c0002t0002g0176 a0002c0002t0002g0195 a0002c0002t0001g0225 a0002c0002t0002g0176 a0002c0002t0002g0195	3	37	0.0811	22	c.-12 others(33): Show c.-1200_-1199insAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01981.hp1 HG03239.hp2 others(3): Show HG00558.hp2 HG01981.hp1 HG03239.hp2 HG04199.hp2 NA19065.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0209 a0002c0002t0001g0216 a0002c0002t0001g0236 others(3): Show a0002c0002t0001g0209 a0002c0002t0001g0216 a0002c0002t0001g0236 a0002c0002t0002g0194 a0002c0002t0002g0207 a0002c0002t0002g0234	6	40	0.1500	22	c.-12 others(33): Show c.-1200_-1199insAAAAAAAAAAAATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01261.hp2 HG01358.hp2 others(6): Show HG00609.hp1 HG01261.hp2 HG01358.hp2 HG03654.hp1 NA18951.hp2 NA18964.hp1 NA18966.hp1 NA18990.hp2 NA19065.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0018 a0002c0002 a0010c0018	a0002c0002t0001 a0002c0002t0002 a0010c0018t0001 a0002c0002t0001 a0002c0002t0002 a0010c0018t0001	a0002c0002t0001g0184 a0002c0002t0001g0189 a0002c0002t0001g0241 others(6): Show a0002c0002t0001g0184 a0002c0002t0001g0189 a0002c0002t0001g0241 a0002c0002t0002g0183 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0219 a0010c0018t0001g0198	9	43	0.2093	22	c.-12 others(33): Show c.-1200_-1199insAAAAAAAAAAAAAATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03669.hp1 NA18961.hp2 HG03492.hp1 HG03669.hp1 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0202 a0002c0002t0001g0243 a0002c0002t0001g0179 a0002c0002t0001g0202 a0002c0002t0001g0243	3	37	0.0811	22	c.-12 others(33): Show c.-1200_-1199insAAAAAAAAAAAAAAAATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02056.hp2 NA19004.hp1 HG01175.hp1 HG02056.hp2 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0175 a0002c0002t0002g0178 a0002c0002t0002g0218 a0002c0002t0001g0175 a0002c0002t0002g0178 a0002c0002t0002g0218	3	37	0.0811	22	c.-12 others(33): Show c.-1200_-1199insAAAAAAAAAAAAAAAAAATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137066987	C C	CACACACA others(15): Show CACACACACACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp2 HG03017.hp1 others(6): Show HG02135.hp2 HG02155.hp2 HG03017.hp1 HG03491.hp1 HG03834.hp2 HG06807.hp1 NA18960.hp1 NA18992.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0022 a0001c0001t0002g0135 a0001c0001t0004g0079 others(6): Show a0001c0001t0001g0022 a0001c0001t0002g0135 a0001c0001t0004g0079 a0001c0001t0005g0103 a0001c0001t0005g0134 a0001c0001t0009g0089 a0001c0001t0011g0096 a0001c0001t0012g0102 a0001c0001t0013g0109	9	129	0.0698	22	c.589 others(37): Show c.589+727_589+728insCTCTCTCTCTCTGTGTGTGTGT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	6/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137066987	C C	CACACACA others(15): Show CACACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18972.hp2 NA18995.hp2 NA18747.hp1 NA18972.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0062 a0001c0001t0002g0145 a0001c0001t0013g0108 a0001c0001t0001g0062 a0001c0001t0002g0145 a0001c0001t0013g0108	3	123	0.0244	22	c.589 others(37): Show c.589+727_589+728insCTCTCTCTCTCTCTGTGTGTGT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	6/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0101 a0001c0001t0011g0101	1	19	0.0526	22	c.187 others(41): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	19	0.0526	22	c.187 others(41): Show c.187-89784_187-89783insCTCTCTCTCTCTCTATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0108 a0001c0001t0013g0108	1	19	0.0526	22	c.187 others(41): Show c.187-89784_187-89783insCTCTCTCTCTATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(15): Show TATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	19	0.0526	22	c.187 others(41): Show c.187-89784_187-89783insCTCTCTATATATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356873	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18983.hp1 HG02615.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0031 a0001c0001t0030g0113 a0001c0001t0003g0031 a0001c0001t0030g0113	2	74	0.0270	22	c.187 others(41): Show c.187-89819_187-89818insACTCTCTCTCTCTCTCTCTCTC	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137384576	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG03139.hp2 HG02886.hp1 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0002t0014 a0001c0001t0002 a0001c0001t0011 a0001c0002t0014	a0001c0001t0002g0119 a0001c0001t0011g0115 a0001c0002t0014g0008 a0001c0001t0002g0119 a0001c0001t0011g0115 a0001c0002t0014g0008	3	144	0.0208	22	c.186 others(43): Show c.186+113796_186+113797insCATATATATATATATATATATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166847647	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp1 HG04184.hp2 HG00741.hp1 HG02258.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0134 a0001c0001t0003g0111 a0001c0002t0002g0070 a0001c0001t0001g0134 a0001c0001t0003g0111 a0001c0002t0002g0070	3	44	0.0682	22	c.589 others(41): Show c.589+41461_589+41482dupTATATATATATATATATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01175.hp2 others(6): Show HG00140.hp2 HG00741.hp1 HG01175.hp2 HG01261.hp2 HG02976.hp1 HG04184.hp2 HG04204.hp2 NA18952.hp2 NA18954.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0003c0006t0012	a0001c0001t0001g0134 a0001c0001t0002g0020 a0001c0001t0002g0030 others(6): Show a0001c0001t0001g0134 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0124 a0001c0001t0003g0019 a0001c0001t0003g0034 a0001c0001t0003g0111 a0001c0004t0002g0004 a0003c0006t0012g0118	9	54	0.1667	22	c.589 others(41): Show c.589+28327_589+28328insATATATATATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(15): Show CATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0043 a0002c0003t0003g0043	1	46	0.0217	22	c.589 others(41): Show c.589+28306_589+28327dupATATATACATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	7	0.1429	22	c.190 others(39): Show c.190-2522_190-2501dupTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116909	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	124	0.0081	22	c.190 others(41): Show c.190-54373_190-54372insTATATATATATATATATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14178045	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03130.hp2 NA19054.hp1 HG01516.hp2 HG03130.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0160 a0001c0001t0002g0136 a0001c0003t0001g0086 a0001c0001t0001g0160 a0001c0001t0002g0136 a0001c0003t0001g0086	3	102	0.0294	22	c.825 others(41): Show c.825+42486_825+42507dupACACACACACACACACACACAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1173716	G G	GAGAGAAA others(15): Show GAGAGAAAAAATAAATAGAAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0021 a0002c0007t0003g0021	1	430	0.0023	22	c.-11 others(33): Show c.-1198_-1177dupTGCTTCTATTTATTTTTTCTCT	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		1134		chr4	TogoVar
SPOPL_chr2_138496770_138578547	138567372	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	17	0.0588	22	c.103 others(41): Show c.1035-1523_1035-1502dupGTGTGTGTGTGTGTGTGTGTGT	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOP_chr17_49593884_49683097	49665649	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18971.hp1 NA18993.hp1 others(1): Show HG02280.hp2 NA18971.hp1 NA18993.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0001 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0006g0039 others(1): Show a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0006g0039 a0001c0001t0013g0312	4	30	0.1333	22	c.-67 others(41): Show c.-67+12262_-67+12283dupGTGTGTGTGTGTGTGTGTGTGT	SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	1/9			chr17	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0230 a0001c0001t0033g0230	1	202	0.0050	22	c.44 others(33): Show c.4443_*4444insAAAAAATATATATATATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL2B_chr19_2323684_2360095	2359758	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA19240.hp2 NA20129.hp1 HG02970.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0002c0005 a0001c0016 a0002c0005	a0001c0016t0001 a0002c0005t0007 a0001c0016t0001 a0002c0005t0007	a0001c0016t0001g0033 a0002c0005t0007g0018 a0001c0016t0001g0033 a0002c0005t0007g0018	3	94	0.0319	22	c.65 others(33): Show c.6549_*6550insACACACACACACACACACACAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding		4664		chr19	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02300.hp1 others(11): Show HG01516.hp1 HG01517.hp2 HG02300.hp1 HG02683.hp1 NA18941.hp1 NA18944.hp1 NA18971.hp2 NA18984.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19067.hp1 NA19074.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0032	a0001c0001t0002g0235 a0001c0001t0002g0264 a0001c0001t0003g0280 others(11): Show a0001c0001t0002g0235 a0001c0001t0002g0264 a0001c0001t0003g0280 a0001c0001t0003g0286 a0001c0001t0003g0290 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0314 a0001c0001t0014g0093 a0001c0001t0032g0256	14	45	0.3111	22	c.24- others(39): Show c.24-19716_24-19695dupTCTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00099.hp1 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0029 a0001c0001t0004 a0001c0001t0029	a0001c0001t0004g0188 a0001c0001t0029g0173 a0001c0001t0004g0188 a0001c0001t0029g0173	2	94	0.0213	22	c.23+ others(39): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38310153	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01071.hp2 others(9): Show HG00558.hp2 HG01069.hp1 HG01071.hp2 HG02132.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG03516.hp1 NA18612.hp2 NA18942.hp1 NA18969.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0038 a0001c0001t0044	a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0247 others(9): Show a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0247 a0001c0001t0002g0259 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0005g0185 a0001c0001t0018g0315 a0001c0001t0038g0363 a0001c0001t0044g0321	12	31	0.3871	22	c.207 others(41): Show c.207+10607_207+10608insGTGTGTGTGTGTGTGTGTGTTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED1_chr15_38247836_38362249	38360847	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0314 a0001c0001t0018g0314	1	21	0.0476	22	c.91 others(33): Show c.9183_*9184insTTTTTTTTTTTTTTTTTTTTTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding		3599		chr15	TogoVar
SPRR1A_chr1_152979081_152990814	152979857	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	259	0.0039	22	c.-42 others(33): Show c.-4288_-4287insCTCTCTCTCTCTCTCTCTCACA	SPRR1A	ENSG00000169474.5	transcript	ENST00000368762.2	protein_coding		4223		chr1	TogoVar

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