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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPIRE1_chr18_12441512_12663107	12526056	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	9	0.1111	30	c.729 others(47): Show c.729+9390_729+9419dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	138	0.0072	30	c.372 others(49): Show c.372+19716_372+19717insATATATATATATATATTTTTTTTTTT TTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0267 a0001c0002t0003g0267	1	138	0.0072	30	c.372 others(49): Show c.372+19716_372+19717insATATATATATATATATATTTTTTTTT TTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	30	0.0333	30	c.180 others(47): Show c.1807-513_1807-512insAAAAAAAAAATATATATATATATATATA TA		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(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19067.hp1 NA19000.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0004 a0001c0001t0001g0043	2	31	0.0645	30	c.180 others(47): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATATATA TA		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(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19240.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0161 a0001c0001t0001g0168	2	31	0.0645	30	c.180 others(47): Show c.1807-513_1807-512insAATATATATATATATATATATATATATA TA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869072	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	223	0.0045	30	c.180 others(47): Show c.1807-492_1807-491insATATATATATATATATATATATATATGT AT		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(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(96): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01109.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp1 HG01928.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03471.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19067.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0049 a0001c0002t0004 a0001c0003t0041 a0001c0004t0002 a0001c0005t0002 a0001c0012t0002	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0022 others(93): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0001g0244 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0304 a0001c0001t0001g0313 a0001c0001t0001g0320 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0002g0253 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0287 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0327 a0001c0001t0003g0017 a0001c0001t0003g0094 a0001c0001t0003g0208 a0001c0001t0003g0217 a0001c0001t0003g0240 a0001c0001t0003g0251 a0001c0001t0003g0254 a0001c0001t0003g0321 a0001c0001t0004g0151 a0001c0001t0004g0227 a0001c0001t0004g0350 a0001c0001t0005g0359 a0001c0001t0005g0360 a0001c0001t0006g0161 a0001c0001t0008g0005 a0001c0001t0009g0169 a0001c0001t0009g0191 a0001c0001t0010g0041 a0001c0001t0012g0323 a0001c0001t0015g0176 a0001c0001t0018g0111 a0001c0001t0018g0112 a0001c0001t0022g0365 a0001c0001t0029g0175 a0001c0001t0033g0030 a0001c0001t0039g0324 a0001c0001t0040g0264 a0001c0001t0042g0155 a0001c0001t0049g0108 a0001c0002t0004g0070 a0001c0003t0041g0068 a0001c0004t0002g0124 a0001c0004t0002g0267 a0001c0005t0002g0048 a0001c0005t0002g0077 a0001c0005t0002g0121 a0001c0012t0002g0243	99	140	0.7071	30	c.-40 others(41): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding					3906		chr17	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TTAAAAAA others(23): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	42	0.0238	30	c.-40 others(41): Show c.-4074_-4073insTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding					3906		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	35	0.0286	30	c.-12 others(41): Show c.-1200_-1199insAAAAAAAATATATATATATATATATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	35	0.0286	30	c.-12 others(41): Show c.-1200_-1199insAAAAAAAAAAAAAATATATATATATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137160600	T T	TATATATA others(23): Show TATATATAATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	119	0.0084	30	c.233 others(49): Show c.233-19907_233-19906insTATATATAATATATATTATATATTAT ATAT		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10						chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0095 a0001c0003t0016g0095	1	19	0.0526	30	c.187 others(49): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTATATAT ATAT		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10						chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0118 a0001c0001t0017g0118	1	19	0.0526	30	c.187 others(49): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTATATATAT ATAT		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10						chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137384576	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0126 a0001c0001t0017g0126	1	142	0.0070	30	c.186 others(51): Show c.186+113796_186+113797insCATATATATATATATATATATATA TATATA		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10						chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(23): Show CATATATATACATATATATATATATATGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0007 a0001c0004t0003g0007	1	46	0.0217	30	c.589 others(49): Show c.589+28327_589+28328insACACATATATATATATATATGTATAT ATAT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(23): Show CATATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	46	0.0217	30	c.589 others(49): Show c.589+28327_589+28328insATATACATATATATATATATATATAT ATAT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860807	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	142	0.0070	30	c.589 others(49): Show c.589+28322_589+28323insCATATATATATATATATATATATATA TATA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109487	T T	TATAATAT others(23): Show TATAATATTTATATATTTTATATAAAATATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	115	0.0087	30	c.190 others(49): Show c.190-46951_190-46950insTATATTTTATATAAAATATATAAATA TTAT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205490	A A	ATATATAT others(23): Show ATATATATTATATAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0011 a0001c0009t0004g0011	1	141	0.0071	30	c.189 others(49): Show c.189+28494_189+28495insATATATATAATATATATTATATAATA TATA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON1_chr11_13957723_14273133	14160431	T T	TTATATAT others(23): Show TTATATATATATATTTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01257.hp1 others(16): Show HG01074.hp2 HG01099.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01952.hp2 HG01978.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03516.hp2 NA18959.hp2 NA19007.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0057 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0157 a0001c0001t0002g0007 a0001c0001t0003g0198 a0001c0001t0004g0222 a0001c0002t0001g0018 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0138 a0001c0002t0001g0166 a0001c0002t0003g0180 a0001c0002t0003g0211 a0001c0002t0003g0213 a0001c0002t0003g0214	19	198	0.0960	30	c.825 others(49): Show c.825+24874_825+24875insATTTATATATATATATTTATATATAT ATAT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160672	C C	CATATATT others(23): Show CATATATTTATATATATATTTATATATTTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18612.hp2 NA18947.hp1 others(1): Show HG00408.hp1 NA18612.hp2 NA18947.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0010t0004 a0001c0001t0001 a0001c0001t0004 a0001c0010t0004	a0001c0001t0001g0063 a0001c0001t0004g0195 a0001c0001t0004g0196 others(1): Show a0001c0001t0001g0063 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0010t0004g0191	4	136	0.0294	30	c.825 others(49): Show c.825+25121_825+25150dupATTTATATATTTATATATATTTATAT ATAT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160925	T T	TTATATAT others(23): Show TTATATATTTATATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	140	0.0071	30	c.825 others(49): Show c.825+25375_825+25404dupATTTATATATTTATATATATTTATAT ATAT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02809.hp1 HG01884.hp1 HG02486.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0024 a0001c0002t0001g0159 a0001c0003t0001g0101 a0001c0002t0001g0024 a0001c0002t0001g0159 a0001c0003t0001g0101	3	69	0.0435	30	c.69 others(41): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding					4539		chr11	TogoVar
SPPL2B_chr19_2323684_2360095	2335246	C C	CCCACTGC others(23): Show CCCACTGCATCCTTCAGGCCCCGCCTCCTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	412	0.0024	30	c.186 others(45): Show c.186+528_186+557dupACTGCATCCTTCAGGCCCCGCCTCCTTTCC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120830408	A A	AGGGGGGA others(23): Show AGGGGGGAAGAAAGGGGGAGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0104 a0001c0002t0006g0104	1	34	0.0294	30	c.24- others(47): Show c.24-19523_24-19522insCTCCCCTTCCCCTCCCCCTTTCTTCCCC CC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830408	A A	AGGGGGGA others(23): Show AGGGGGGAAGAAGGGGGAGGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0132 a0001c0001t0012g0132	1	34	0.0294	30	c.24- others(47): Show c.24-19523_24-19522insCTCCCCTTCCCCCTCCCCCTTCTTCCCC CC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830436	A A	AGGGGGGA others(23): Show AGGGGGGAAGAAGGGGGAGGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01099.hp2 others(50): Show HG00408.hp1 HG00621.hp1 HG01099.hp2 HG01243.hp2 HG01943.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18980.hp1 NA18988.hp1 NA18991.hp1 NA19000.hp1 NA19011.hp1 NA19043.hp1 NA19074.hp2 NA19078.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027	a0001c0001t0001g0137 a0001c0001t0003g0289 a0001c0001t0005g0080 others(50): Show a0001c0001t0001g0137 a0001c0001t0003g0289 a0001c0001t0005g0080 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0023g0146 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	53	92	0.5761	30	c.24- others(47): Show c.24-19551_24-19550insCTCCCCTTCCCCCTCCCCCTTCTTCCCC CC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830436	A A	AGGGGGGG others(23): Show AGGGGGGGAGAAGGGGGAGGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	40	0.0250	30	c.24- others(47): Show c.24-19551_24-19550insCTCCCCTTCCCCCTCCCCCTTCTCCCCC CC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830441	G G	GGAAGAAG others(23): Show GGAAGAAGGGGGAGGGGGAAGGGGAGGGGGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	317	0.0032	30	c.24- others(47): Show c.24-19556_24-19555insACCCCCTCCCCTTCCCCCTCCCCCTTCT TC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830507	G G	GGGAGGGG others(23): Show GGGAGGGGGAAGGGGAGGGGGAAGAAGGGGT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	318	0.0031	30	c.24- others(47): Show c.24-19622_24-19621insACCCCTTCTTCCCCCTCCCCTTCCCCCT CC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830548	A A	AGGGGGGG others(23): Show AGGGGGGGGAGGGGGAGGGGTGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	275	0.0036	30	c.24- others(47): Show c.24-19663_24-19662insCCCCTCCCCCACCCCTCCCCCTCCCCCC CC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPRED1_chr15_38247836_38362249	38310153	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0183 a0001c0001t0005g0183	1	20	0.0500	30	c.207 others(49): Show c.207+10607_207+10608insGTGTGTGTGTGTGTGTGTGTGTGTGT GTTT		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED3_chr19_38383697_38404587	38385765	A A	AGCCGGGG others(23): Show AGCCGGGGATGGGGCCGGGGCCGGGGCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0026 a0001c0001t0025 a0001c0001t0026	a0001c0001t0025g0025 a0001c0001t0026g0025 a0001c0001t0025g0025 a0001c0001t0026g0025	2	273	0.0073	30	c.-30 others(41): Show c.-3047_-3046insGCCGGGGATGGGGCCGGGGCCGGGGCCGGG		SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding					2931		chr19	TogoVar
SPRR1A_chr1_152979081_152990814	152979857	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	259	0.0039	30	c.-42 others(41): Show c.-4288_-4287insCTCTCTCTCTCTCTCTCTCTCTCTCTCACA		SPRR1A	ENSG00000169474.5	transcript	ENST00000368762.2	protein_coding					4223		chr1	TogoVar
SPRY2_chr13_80330976_80346126	80337533	C C	CTTGACTC others(23): Show CTTGACTCTTGTGTCTCCTCAGTGGTTTCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0038 a0003c0004t0002g0038	1	420	0.0024	30	c.172 others(37): Show c.172_173insCGGAAACCACTGAGGAGACACAAGAGTCAA	p.Gly others(41): Show p.Gly58delinsAlaGluThrThrGluGluThrGlnGluSerArg	SPRY2	ENSG00000136158.12	transcript	ENST00000377104.4	protein_coding	2/2	728/2286	172/948	58/315			chr13	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(23): Show GTCTCTCTCCCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0094 a0001c0001t0098g0094	1	200	0.0050	30	c.-28 others(49): Show c.-282+3461_-282+3462insCCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		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(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02922.hp2 HG02647.hp1 HG02886.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0067 a0003c0005t0048 a0001c0001t0003 a0001c0001t0067 a0003c0005t0048	a0001c0001t0003g0227 a0001c0001t0067g0093 a0003c0005t0048g0219 a0001c0001t0003g0227 a0001c0001t0067g0093 a0003c0005t0048g0219	3	79	0.0380	30	c.-28 others(51): Show c.-281-50979_-281-50950dupTATATATATATATATATATATATA TATATA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(23): Show TATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG02615.hp1 HG02895.hp1 others(2): Show HG01358.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0024 a0001c0001t0098 a0001c0001t0019 a0001c0001t0024 a0001c0001t0098	a0001c0001t0019g0201 a0001c0001t0019g0208 a0001c0001t0024g0001 others(1): Show a0001c0001t0019g0201 a0001c0001t0019g0208 a0001c0001t0024g0001 a0001c0001t0098g0094	5	6	0.8333	30	c.29 others(41): Show c.2906_*2907insATATATATATATATATATGTAAATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3				2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG01169.hp1 others(9): Show HG00140.hp2 HG01168.hp2 HG01169.hp1 HG01517.hp1 HG01884.hp2 HG02015.hp2 NA18947.hp1 NA18947.hp2 NA18970.hp2 NA19000.hp1 NA19060.hp1 NA19060.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0006 a0002c0008 others(1): Show a0001c0004 a0002c0006 a0002c0008 a0003c0003	a0001c0004t0006 a0001c0004t0009 a0002c0006t0008 others(4): Show a0001c0004t0006 a0001c0004t0009 a0002c0006t0008 a0002c0008t0001 a0003c0003t0017 a0003c0003t0024 a0003c0003t0036	a0001c0004t0006g0273 a0001c0004t0009g0005 a0001c0004t0009g0234 others(9): Show a0001c0004t0006g0273 a0001c0004t0009g0005 a0001c0004t0009g0234 a0001c0004t0009g0271 a0001c0004t0009g0272 a0002c0006t0008g0068 a0002c0006t0008g0070 a0002c0008t0001g0175 a0003c0003t0017g0172 a0003c0003t0017g0174 a0003c0003t0024g0173 a0003c0003t0036g0177	12	174	0.0690	30	c.258 others(49): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51						chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128557588	C C	CCCCCAAA others(23): Show CCCCCAAATTTTTATTTGGGGAATGAAAATT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	310	0.0032	30	c.-4+ others(45): Show c.-4+4901_-4+4930dupTTTTATTTGGGGAATGAAAATTCCCCAAAT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54522642	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18955.hp2 HG04204.hp1 NA18955.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0188 a0002c0006t0003g0200 a0002c0006t0003g0188 a0002c0006t0003g0200	2	362	0.0055	30	c.-47 others(47): Show c.-47-3727_-47-3726insGAGAGAGAGGAGAGAGAGAGAGAGAGGA GA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522649	A A	AAAGAGAG others(23): Show AAAGAGAGAGAGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02015.hp2 HG02109.hp1 others(5): Show HG00099.hp1 HG02015.hp2 HG02109.hp1 HG03490.hp2 HG03492.hp1 NA18940.hp1 NA18982.hp1 NA19067.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0024 a0001c0003 a0009c0024	a0001c0003t0003 a0001c0003t0009 a0001c0003t0024 others(1): Show a0001c0003t0003 a0001c0003t0009 a0001c0003t0024 a0009c0024t0009	a0001c0003t0003g0036 a0001c0003t0003g0177 a0001c0003t0003g0355 others(5): Show a0001c0003t0003g0036 a0001c0003t0003g0177 a0001c0003t0003g0355 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0009c0024t0009g0232	8	368	0.0217	30	c.-47 others(47): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AG		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35						chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01975.hp1 HG02004.hp1 others(4): Show HG01106.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02293.hp2 NA18944.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0009t0007 a0001c0014t0001	a0001c0001t0001g0156 a0001c0002t0001g0146 a0001c0002t0001g0147 others(4): Show a0001c0001t0001g0156 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0006g0115 a0001c0009t0007g0278 a0001c0009t0007g0336 a0001c0014t0001g0014	7	142	0.0493	30	c.-47 others(47): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAAAGAGAAAGAAA GA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0270 a0001c0009t0007g0270	1	63	0.0159	30	c.149 others(49): Show c.149-17492_149-17491insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40569961	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0148 a0005c0009t0001g0148	1	230	0.0043	30	c.702 others(47): Show c.7026+248_7026+249insCACACACACACACACAGACACACACACA CA		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	151	0.0066	30	c.660 others(49): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(23): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01934.hp1 NA19010.hp1 HG01168.hp1 HG01934.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0032 a0001c0001t0001 a0001c0001t0009 a0001c0001t0032	a0001c0001t0001g0206 a0001c0001t0009g0085 a0001c0001t0032g0205 a0001c0001t0001g0206 a0001c0001t0009g0085 a0001c0001t0032g0205	3	28	0.1071	30	c.130 others(49): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA GAAA		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534588	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0163 a0001c0001t0045g0163	1	19	0.0526	30	c.130 others(51): Show c.1304-13008_1304-13007insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11						chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01258.hp2 HG01891.hp1 others(4): Show HG00140.hp1 HG01258.hp2 HG01891.hp1 HG02647.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014	a0001c0001t0019 a0001c0003t0011 a0001c0005t0001 others(4): Show a0001c0001t0019 a0001c0003t0011 a0001c0005t0001 a0001c0005t0005 a0001c0005t0018 a0001c0005t0030 a0001c0014t0005	a0001c0001t0019g0053 a0001c0003t0011g0155 a0001c0005t0001g0080 others(4): Show a0001c0001t0019g0053 a0001c0003t0011g0155 a0001c0005t0001g0080 a0001c0005t0005g0081 a0001c0005t0018g0084 a0001c0005t0030g0285 a0001c0014t0005g0083	7	263	0.0266	30	c.118 others(49): Show c.118-10885_118-10884insTATATATATATATATATATATATATA TATA		SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr20	TogoVar

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