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
SPIDR_chr8_47255938_47741306	47576188	C C	CTTGCCCA others(21): Show CTTGCCCAGGCTGGAATGCAGTGGCACTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02965.hp1 others(1): Show HG02615.hp1 HG02723.hp2 HG02965.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 others(1): Show a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123	4	213	0.0188	28	c.109 others(49): Show c.1098-19604_1098-19603insGTGGCACTGTTGCCCAGGCTGGAA TGCA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(21): Show CGCGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02886.hp1 HG03130.hp2 HG00741.hp1 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0173 a0001c0002t0005g0139 a0001c0002t0005g0140 a0001c0002t0001g0173 a0001c0002t0005g0139 a0001c0002t0005g0140	3	125	0.0240	28	c.53- others(43): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441398	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	123	0.0081	28	c.53- others(43): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	107	0.0093	28	c.53- others(43): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK5_chr5_148058980_148142382	148077637	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp2 HG03516.hp1 NA20129.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0008 a0006c0006 a0007c0008	a0006c0006t0002 a0007c0008t0006 a0006c0006t0002 a0007c0008t0006	a0006c0006t0002g0037 a0007c0008t0006g0080 a0006c0006t0002g0037 a0007c0008t0006g0080	2	75	0.0267	28	c.282 others(45): Show c.282+5440_282+5441insATATATATATATATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210294	A A	ATGTGTTT others(21): Show ATGTGTTTCTGCGTACATATATATGTATG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	24	0.0417	28	c.82- others(43): Show c.82-3613_82-3612insGTTTCTGCGTACATATATATGTATGTGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148212565	A A	ATATATTA others(21): Show ATATATTATATATATTTATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG03041.hp2 others(3): Show HG01496.hp1 HG01884.hp1 HG03041.hp2 HG03195.hp2 NA18522.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0073 a0002c0002t0001g0119 others(1): Show a0002c0002t0001g0025 a0002c0002t0001g0073 a0002c0002t0001g0119 a0002c0002t0001g0120	6	436	0.0138	28	c.82- others(43): Show c.82-1333_82-1332insATTTATATATTTATATTATATTATATAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12469701	T T	TTTATATA others(21): Show TTTATATAAATATATTTATATAAATATAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp2 HG02895.hp2 HG02976.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0017 a0004c0007t0017 a0001c0001t0017 a0004c0007t0017	a0001c0001t0017g0274 a0004c0007t0017g0272 a0001c0001t0017g0274 a0004c0007t0017g0272	2	326	0.0061	28	c.140 others(47): Show c.1405-4771_1405-4744dupTTATATTTATATAAATATATTTATAT AA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	10/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12526056	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18906.hp2 NA19000.hp1 others(1): Show HG02809.hp2 NA18906.hp2 NA19000.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0001g0258 a0001c0001t0002g0203 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0258 a0001c0001t0002g0203 a0001c0001t0004g0054	4	12	0.3333	28	c.729 others(45): Show c.729+9392_729+9419dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp2 HG01258.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0020 a0001c0001t0007g0006 a0001c0001t0001g0020 a0001c0001t0007g0006	2	139	0.0144	28	c.372 others(47): Show c.372+19716_372+19717insATATATATATATTTTTTTTTTTTTTT TT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	30	0.0333	28	c.180 others(45): Show c.1807-513_1807-512insAAAAAAAAAAAATATATATATATATATA	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(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	30	0.0333	28	c.180 others(45): Show c.1807-513_1807-512insAAAAAATATATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	30	0.0333	28	c.180 others(45): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA	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(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	30	0.0333	28	c.180 others(45): Show c.1807-513_1807-512insAATATATATATATATATATATATATATA	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(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	223	0.0045	28	c.180 others(45): Show c.1807-492_1807-491insATATATATATATATATATATATATGTAT	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(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01433.hp1 HG01516.hp1 others(7): Show HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01993.hp2 HG02004.hp2 HG02145.hp1 HG02300.hp1 HG02723.hp1 NA19030.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0006 a0001c0008t0004 a0001c0009t0015	a0001c0001t0001g0009 a0001c0001t0001g0271 a0001c0001t0002g0206 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0271 a0001c0001t0002g0206 a0001c0001t0002g0250 a0001c0001t0003g0059 a0001c0001t0003g0239 a0001c0001t0010g0200 a0001c0002t0006g0159 a0001c0008t0004g0073 a0001c0009t0015g0165	10	51	0.1961	28	c.-40 others(39): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(21): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0139 a0001c0003t0002g0139	1	179	0.0056	28	c.111 others(47): Show c.1113+5386_1113+5387insCCTTTCTTTCTTTCTTTCTTTCTTTC TT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458646	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0346 a0001c0003t0001g0346	1	330	0.0030	28	c.111 others(47): Show c.1113+5444_1113+5445insTTTCTTTCTTTCTTTCTTTCTTTCCT TC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01361.hp1 HG02027.hp2 others(10): Show HG00323.hp1 HG01361.hp1 HG02027.hp2 HG02155.hp2 HG02723.hp2 HG02738.hp1 HG04184.hp2 NA18961.hp1 NA19000.hp1 NA19060.hp1 NA19068.hp1 NA19068.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0001c0009 others(5): Show a0001c0001 a0001c0004 a0001c0009 a0002c0032 a0003c0005 a0003c0008 a0003c0051 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0009t0001 a0002c0032t0001 a0003c0005t0001 a0003c0008t0003 a0003c0051t0001 a0005c0015t0003	a0001c0001t0001g0194 a0001c0001t0001g0216 a0001c0001t0001g0261 others(10): Show a0001c0001t0001g0194 a0001c0001t0001g0216 a0001c0001t0001g0261 a0001c0001t0001g0347 a0001c0001t0002g0193 a0001c0004t0001g0073 a0001c0009t0001g0058 a0002c0032t0001g0079 a0003c0005t0001g0108 a0003c0005t0001g0140 a0003c0008t0003g0101 a0003c0051t0001g0013 a0005c0015t0003g0153	13	58	0.2241	28	c.111 others(47): Show c.1114-9837_1114-9810dupTTCTTTCTTTCTTTCTTTCTTTCTTT CT	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(21): Show ATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	35	0.0286	28	c.-12 others(39): Show c.-1200_-1199insAAAAAAAAAAAAAATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02109.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0165 a0001c0001t0001g0171	2	36	0.0556	28	c.-12 others(39): Show c.-1200_-1199insAAAAAAAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0093 a0001c0003t0015g0093	1	63	0.0159	28	c.347 others(45): Show c.347+8590_347+8591insATATATATTTTTTTTTTTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	63	0.0159	28	c.347 others(45): Show c.347+8590_347+8591insATATATATATATATATATATATATTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160552	A A	ATATTATA others(21): Show ATATTATATATAATATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02040.hp1 others(20): Show HG00558.hp1 HG00558.hp2 HG02040.hp1 HG02135.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG03486.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18953.hp2 NA18954.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18983.hp1 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19074.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0002g0117 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0002g0117 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0081 a0001c0001t0004g0063 a0001c0001t0007g0048 a0001c0001t0008g0073 a0001c0001t0010g0002 a0001c0001t0011g0107 a0001c0001t0013g0137 a0001c0001t0017g0126 a0001c0001t0021g0068 a0001c0001t0022g0006 a0001c0001t0031g0152 a0001c0002t0001g0049	23	150	0.1533	28	c.233 others(47): Show c.233-19859_233-19858insAAATATATATTATATATTATATATAA TA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160572	T T	TATATATA others(21): Show TATATATAATATATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	117	0.0085	28	c.233 others(47): Show c.233-19879_233-19878insTATATATTATATATAATATATTATAT AT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356798	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	115	0.0087	28	c.187 others(47): Show c.187-89771_187-89744dupATATATATATATATATATATATATAT AT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0093 a0001c0003t0015g0093	1	19	0.0526	28	c.187 others(47): Show c.187-89811_187-89784dupCTCTCTCTCTCTCTCTCTCTCTCTCT CT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATAGAGA others(21): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	19	0.0526	28	c.187 others(47): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTCTCTCT AT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0005g0129 a0001c0002t0005g0130	2	20	0.1000	28	c.187 others(47): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTCTCTAT AT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	19	0.0526	28	c.187 others(47): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTATATATAT AT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(21): Show TATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	19	0.0526	28	c.187 others(47): Show c.187-89784_187-89783insCTCTCTCTCTCTATATATATATATAT AT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18960.hp2 HG01496.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0014 a0001c0001t0001 a0001c0002t0014	a0001c0001t0001g0091 a0001c0002t0014g0017 a0001c0001t0001g0091 a0001c0002t0014g0017	2	20	0.1000	28	c.187 others(47): Show c.187-89784_187-89783insCTCTCTCTCTATATATATATATATAT AT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	19	0.0526	28	c.187 others(47): Show c.187-89784_187-89783insCTATATATATATATATATATATATAT AT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137358390	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03491.hp1 HG03831.hp2 others(6): Show HG00558.hp1 HG03491.hp1 HG03831.hp2 NA18954.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp2 NA19002.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0028 a0001c0001t0031	a0001c0001t0001g0007 a0001c0001t0002g0142 a0001c0001t0002g0143 others(6): Show a0001c0001t0001g0007 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0012g0102 a0001c0001t0012g0146 a0001c0001t0012g0148 a0001c0001t0028g0127 a0001c0001t0031g0152	9	56	0.1607	28	c.187 others(47): Show c.187-91363_187-91336dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166847647	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02965.hp2 HG01071.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0089 a0001c0002t0001g0010 a0001c0001t0002g0089 a0001c0002t0001g0010	2	43	0.0465	28	c.589 others(47): Show c.589+41455_589+41482dupTATATATATATATATATATATATATA TA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02004.hp2 HG04115.hp1 HG00642.hp1 HG02004.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0004 a0001c0001t0004 a0001c0009t0004	a0001c0001t0004g0028 a0001c0001t0004g0079 a0001c0009t0004g0011 a0001c0001t0004g0028 a0001c0001t0004g0079 a0001c0009t0004g0011	3	48	0.0625	28	c.589 others(47): Show c.589+28327_589+28328insATATATATATATATATATATATATAT AT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860809	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	142	0.0070	28	c.589 others(47): Show c.589+28320_589+28321insCATATATATATATATATATATATATA TA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166869176	A A	AAAGCTAA others(21): Show AAAGCTAAAAGGACAGTGCTGCTAAAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01361.hp2 HG00741.hp1 HG01109.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0102 a0001c0001t0003g0108 a0001c0001t0003g0111	3	142	0.0211	28	c.589 others(47): Show c.589+19953_589+19954insCCTTTTAGCAGCACTGTCCTTTTAGC TT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0003 a0001c0004t0003g0003	1	7	0.1429	28	c.190 others(45): Show c.190-2501_190-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109212	T T	TAAATATT others(21): Show TAAATATTATATACTTATATAAAAATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	137	0.0073	28	c.190 others(47): Show c.190-46676_190-46675insTATATTTTTATATAAGTATATAATAT TT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109422	T T	TGTATATT others(21): Show TGTATATTTATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	135	0.0074	28	c.190 others(47): Show c.190-46886_190-46885insTTATATATATATTTATATATAAATAT AC	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116661	C C	CTATATAC others(21): Show CTATATACGTATATATATACACATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02630.hp1 others(6): Show HG02258.hp2 HG02615.hp1 HG02630.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0001c0007t0002	a0001c0001t0001g0107 a0001c0001t0002g0022 a0001c0001t0003g0021 others(6): Show a0001c0001t0001g0107 a0001c0001t0002g0022 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0007t0001g0139 a0001c0007t0002g0041	9	120	0.0750	28	c.190 others(47): Show c.190-54125_190-54124insTATATATGTGTATATATATACGTATA TA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116661	C C	CTATATAC others(21): Show CTATATACGTATATATATACACGTATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01261.hp2 others(16): Show HG00621.hp2 HG00642.hp2 HG01261.hp2 HG01346.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG02071.hp1 HG02165.hp2 HG02273.hp2 HG03225.hp1 HG04184.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18969.hp1 NA18971.hp1 NA19070.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 others(16): Show a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0088 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0003g0019 a0001c0001t0003g0057 a0001c0001t0005g0103 a0001c0001t0009g0068 a0001c0001t0011g0039	19	130	0.1462	28	c.190 others(47): Show c.190-54125_190-54124insTATATACGTGTATATATATACGTATA TA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14160535	T T	TTATATAT others(21): Show TTATATATATATTTACATATATATATTTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	150	0.0067	28	c.825 others(47): Show c.825+24981_825+24982insCATATATATATTTATATATATATATT TA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160536	T T	TATATATA others(21): Show TATATATATATATTTATATATATATTTAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	222	0.0045	28	c.825 others(47): Show c.825+24978_825+24979insATTTATATATATATTTACATATATAT AT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161019	C C	CTATATAT others(21): Show CTATATATATTTATATATATCTATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp2 HG02717.hp1 others(5): Show HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02970.hp2 HG03017.hp1 HG03688.hp1 HG03688.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0008 a0001c0001t0002g0152 a0001c0001t0004g0178 others(5): Show a0001c0001t0002g0008 a0001c0001t0002g0152 a0001c0001t0004g0178 a0001c0001t0004g0205 a0001c0002t0001g0015 a0001c0002t0001g0120 a0001c0002t0001g0158 a0001c0003t0002g0099	8	219	0.0365	28	c.825 others(47): Show c.825+25476_825+25503dupTATTTATATATATTTATATATATCTA TA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161031	A A	ATATATAT others(21): Show ATATATATCTATATATTTATATATATTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	141	0.0071	28	c.825 others(47): Show c.825+25490_825+25491insCTATATATCTATATATTTATATATAT TT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPPL3_chr12_120757510_120909358	120830397	G G	GGGGGAAG others(21): Show GGGGGAAGGGGAGGGGGGAAGAAGGGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG03209.hp1 others(2): Show HG02486.hp1 HG02922.hp1 HG03209.hp1 HG03239.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0009 a0001c0001t0009 a0001c0004t0009	a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0009g0213 others(2): Show a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0009g0213 a0001c0004t0009g0210 a0001c0004t0009g0212	5	314	0.0159	28	c.24- others(45): Show c.24-19512_24-19511insTCCCCCTTCTTCCCCCCTCCCCTTCCCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830453	G G	GGGGGAAG others(21): Show GGGGGAAGGGGAGGGGGGAAGAAGGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp2 others(47): Show HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01361.hp2 HG01981.hp2 HG02040.hp2 HG02074.hp2 HG02135.hp2 HG02300.hp1 HG02683.hp1 HG02723.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18994.hp1 NA19001.hp1 NA19004.hp1 NA19009.hp1 NA19030.hp1 NA19065.hp2 NA19079.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038	a0001c0001t0002g0001 a0001c0001t0002g0221 a0001c0001t0002g0222 others(46): Show a0001c0001t0002g0001 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0003g0285 a0001c0001t0003g0292 a0001c0001t0014g0093 a0001c0001t0034g0273 a0001c0001t0035g0252 a0001c0001t0038g0263	50	317	0.1577	28	c.24- others(45): Show c.24-19595_24-19568dupTCCCCCTTCTTCCCCCCTCCCCTTCCCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02615.hp2 NA18949.hp2 HG00099.hp2 HG02615.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0267 a0001c0001t0003g0306 a0001c0001t0008g0069 a0001c0001t0002g0267 a0001c0001t0003g0306 a0001c0001t0008g0069	3	34	0.0882	28	c.24- others(45): Show c.24-19695_24-19694insTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar

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