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
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG02145.hp1 others(3): Show HG00408.hp1 HG00609.hp2 HG02145.hp1 HG03225.hp1 NA19009.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0149 a0001c0003t0001g0150 others(2): Show a0001c0003t0001g0017 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152	6	8	0.7500	30	c.-32 others(47): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUSD1_chr9_112035783_112180297	112086538	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0245 a0001c0002t0004g0245	1	335	0.0030	30	c.147 others(49): Show c.1475-6374_1475-6373insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	10/16			chr9	TogoVar
SUSD1_chr9_112035783_112180297	112086562	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02886.hp1 others(3): Show HG02559.hp1 HG02630.hp2 HG02886.hp1 HG03209.hp2 HG03453.hp1 HG06807.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0007c0011	a0001c0001t0001 a0001c0002t0004 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0004t0003 a0007c0011t0003	a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0002t0004g0126 others(3): Show a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0002t0004g0126 a0001c0002t0004g0162 a0001c0004t0003g0150 a0007c0011t0003g0010	6	319	0.0188	30	c.147 others(49): Show c.1475-6398_1475-6397insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	10/16			chr9	TogoVar
SUSD4_chr1_223215831_223369176	223268013	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18955.hp2 HG01346.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0071 a0001c0001t0001g0095	2	14	0.1429	30	c.535 others(45): Show c.535+459_535+488dupTATATATATATATATATATATATATATATA	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD4_chr1_223215831_223369176	223268042	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	252	0.0040	30	c.535 others(45): Show c.535+459_535+460insGTATATATATATATATATATATATATATAT	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8			chr1	TogoVar
SUSD5_chr3_33145043_33223810	33183930	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp1 HG01361.hp1 HG01516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0004 a0003c0003t0003 a0003c0003t0004	a0003c0003t0003g0112 a0003c0003t0004g0064 a0003c0003t0003g0112 a0003c0003t0004g0064	2	29	0.0690	30	c.410 others(47): Show c.410-8857_410-8856insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SUSD5_chr3_33145043_33223810	33213773	C C	CAAACAAA others(23): Show CAAACAAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02723.hp2 HG03453.hp2 others(1): Show HG01255.hp2 HG02723.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0135 a0001c0001t0003g0136 others(1): Show a0001c0001t0003g0044 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0370	4	393	0.0102	30	c.290 others(45): Show c.290+125_290+154dupTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	2/4			chr3	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02074.hp2 HG02273.hp1 others(2): Show HG01928.hp2 HG02074.hp2 HG02273.hp1 NA19009.hp1 NA19010.hp2	a0001 a0005 a0044 others(1): Show a0001 a0005 a0044 a0057	a0001c0002 a0005c0007 a0044c0052 others(1): Show a0001c0002 a0005c0007 a0044c0052 a0057c0051	a0001c0002t0002 a0005c0007t0002 a0044c0052t0002 others(1): Show a0001c0002t0002 a0005c0007t0002 a0044c0052t0002 a0057c0051t0001	a0001c0002t0002g0166 a0005c0007t0002g0228 a0044c0052t0002g0247 others(2): Show a0001c0002t0002g0166 a0005c0007t0002g0228 a0044c0052t0002g0247 a0044c0052t0002g0289 a0057c0051t0001g0221	5	221	0.0226	30	c.982 others(49): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG04184.hp1 NA18747.hp2 others(1): Show HG00280.hp1 HG04184.hp1 NA18747.hp2 NA18951.hp2	a0039 a0047 a0054 others(1): Show a0039 a0047 a0054 a0056	a0039c0057 a0047c0101 a0054c0044 others(1): Show a0039c0057 a0047c0101 a0054c0044 a0056c0130	a0039c0057t0004 a0047c0101t0001 a0054c0044t0002 others(1): Show a0039c0057t0004 a0047c0101t0001 a0054c0044t0002 a0056c0130t0001	a0039c0057t0004g0080 a0047c0101t0001g0191 a0054c0044t0002g0275 others(1): Show a0039c0057t0004g0080 a0047c0101t0001g0191 a0054c0044t0002g0275 a0056c0130t0001g0342	4	39	0.1026	30	c.488 others(47): Show c.4889-161_4889-160insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110572789	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0075 a0075	a0075c0090 a0075c0090	a0075c0090t0003 a0075c0090t0003	a0075c0090t0003g0231 a0075c0090t0003g0231	1	52	0.0192	30	c.531 others(47): Show c.531+6223_531+6224insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	1/47			chr9	TogoVar
SVIP_chr11_22813927_22834801	22831605	A A	AGGAGGGG others(23): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	243	0.0041	30	c.-18 others(41): Show c.-1858_-1857insCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	SVIP	ENSG00000198168.9	transcript	ENST00000354193.5	protein_coding		1805		chr11	TogoVar
SVOP_chr12_108902741_109026068	108907098	A A	ACTCCTCC others(23): Show ACTCCTCCTCCTTCTCCTCCTCCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00639.hp2 others(46): Show HG00544.hp2 HG00597.hp1 HG00639.hp2 HG01070.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02735.hp2 HG03710.hp2 HG03834.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18972.hp1 NA18973.hp1 NA18983.hp1 NA18984.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0022 a0001c0001t0038 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0080 a0001c0002t0002 a0001c0002t0034 a0001c0002t0061 a0001c0002t0082	a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0079 others(46): Show a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0158 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0017g0061 a0001c0001t0017g0072 a0001c0001t0017g0103 a0001c0001t0017g0104 a0001c0001t0022g0122 a0001c0001t0038g0045 a0001c0001t0044g0043 a0001c0001t0047g0021 a0001c0001t0048g0041 a0001c0001t0049g0017 a0001c0001t0080g0078 a0001c0002t0002g0219 a0001c0002t0034g0284 a0001c0002t0034g0285 a0001c0002t0061g0159 a0001c0002t0082g0216	49	248	0.1976	30	c.54 others(41): Show c.5436_*5437insGAGAAGGAGGAGGAGGAGAAGGAGGAGGAG	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		642		chr12	TogoVar
SVOP_chr12_108902741_109026068	108907138	C C	CTTCTCCT others(23): Show CTTCTCCTCCTCCTCCTTCTCCTCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	286	0.0035	30	c.53 others(41): Show c.5396_*5397insAGAGGAGGAGGAGAAGGAGGAGGAGGAGAA	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		602		chr12	TogoVar
SVOP_chr12_108902741_109026068	108907170	C C	CCTCCTCC others(23): Show CCTCCTCCTGCTTCTCCTCCTCCTCCTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	286	0.0035	30	c.53 others(41): Show c.5364_*5365insAAGGAGGAGGAGGAGGAGAAGCAGGAGGAG	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		570		chr12	TogoVar
SWAP70_chr11_9659077_9757993	9671539	G G	GAAATATA others(23): Show GAAATATATATAAATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0118 a0002c0004t0001g0118	1	290	0.0034	30	c.99+ others(45): Show c.99+7270_99+7271insTAAATATATATATAAATATATAAATATATA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYCE1L_chr16_77194408_77218215	77200291	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0132 a0005c0007t0003g0132	1	198	0.0051	30	c.61+ others(43): Show c.61+780_61+781insTATATATATATATATATATATATATACACA	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYCE1L_chr16_77194408_77218215	77200291	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00741.hp1 others(6): Show HG00408.hp1 HG00639.hp2 HG00741.hp1 HG01081.hp1 HG01346.hp1 HG01993.hp2 HG03540.hp1 NA18959.hp2 NA19010.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0008 a0002c0003 a0006c0008	a0002c0003t0001 a0006c0008t0008 a0002c0003t0001 a0006c0008t0008	a0002c0003t0001g0016 a0002c0003t0001g0023 a0002c0003t0001g0114 others(1): Show a0002c0003t0001g0016 a0002c0003t0001g0023 a0002c0003t0001g0114 a0006c0008t0008g0185	9	206	0.0437	30	c.61+ others(43): Show c.61+780_61+781insTATATATATATATATATATATATATATACA	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYCP1_chr1_114849863_115000370	114857136	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	144	0.0069	30	c.194 others(43): Show c.194-75_194-74insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SYCP1	ENSG00000198765.12	transcript	ENST00000369522.8	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYCP1_chr1_114849863_115000370	114857156	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0137 a0001c0002t0001g0122 a0001c0002t0001g0137	2	298	0.0067	30	c.194 others(43): Show c.194-75_194-74insAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA	SYCP1	ENSG00000198765.12	transcript	ENST00000369522.8	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYCP2L_chr6_10882052_10979309	10911894	C C	CTTTCTTT others(23): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	24	0.0417	30	c.919 others(45): Show c.919-776_919-775insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10978306	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0306 a0002c0003t0001g0306	1	202	0.0050	30	c.43 others(41): Show c.4392_*4393insATATATATATATATATATATATATATATAA	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding		3998		chr6	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	120	0.0083	30	c.236 others(45): Show c.236-828_236-827insAAAAAATATATATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	120	0.0083	30	c.236 others(45): Show c.236-828_236-827insAAAAAAAAAATATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(23): Show ATATATATATATATATATTATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	120	0.0083	30	c.236 others(45): Show c.236-828_236-827insAAAAAAAAATATAATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02109.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0119 a0001c0001t0007g0120 a0001c0001t0001g0119 a0001c0001t0007g0120	2	121	0.0165	30	c.236 others(45): Show c.236-828_236-827insAAAAAAAAAAAAAATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG02809.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	121	0.0165	30	c.236 others(45): Show c.236-828_236-827insAAAAAAAAAAAAAAAATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYF2_chr1_25217276_25237502	25234233	A A	AAAATAGA others(23): Show AAAATAGAAATCAACAGACAAAAATAAAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	298	0.0034	30	c.-17 others(41): Show c.-1767_-1766insAGTTTTATTTTTGTCTGTTGATTTCTATTT	SYF2	ENSG00000117614.10	transcript	ENST00000236273.9	protein_coding		1732		chr1	TogoVar
SYK_chr9_90796819_90903549	90802815	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0366 a0001c0005t0010g0366	1	4	0.2500	30	c.-42 others(45): Show c.-42+934_-42+935insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884247	A A	ATACACAT others(23): Show ATACACATACACATACGTGTATATATACACG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0195 a0001c0003t0008g0195	1	374	0.0027	30	c.158 others(49): Show c.1582-3502_1582-3501insTACACATACACATACGTGTATATATA CACG	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYK_chr9_90796819_90903549	90884433	G G	GTGTACAT others(23): Show GTGTACATGCACATATATACACATACACATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03209.hp2 HG02896.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0055 a0001c0001t0005 a0001c0001t0055	a0001c0001t0005g0165 a0001c0001t0055g0329 a0001c0001t0005g0165 a0001c0001t0055g0329	2	374	0.0053	30	c.158 others(49): Show c.1582-3313_1582-3312insACATGCACATATATACACATACACAT ATGT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884463	G G	GTGTACAT others(23): Show GTGTACATGTACATATATACACATACACATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0053 a0001c0001t0004g0054	2	213	0.0094	30	c.158 others(49): Show c.1582-3283_1582-3282insACATGTACATATATACACATACACAT ATGT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884616	T T	TACACACA others(23): Show TACACACATGTGTACATGCACATATATACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02698.hp1 HG01167.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0041 a0001c0001t0017 a0001c0001t0041	a0001c0001t0017g0131 a0001c0001t0041g0176 a0001c0001t0017g0131 a0001c0001t0041g0176	2	273	0.0073	30	c.158 others(49): Show c.1582-3132_1582-3131insCACACATGTGTACATGCACATATATA CACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884616	T T	TACACATA others(23): Show TACACATATGTGTACATGCACATATATACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp1 HG02572.hp1 others(12): Show HG01109.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03579.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0027 a0001c0001t0050 a0001c0004t0012 a0001c0005t0006	a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0368 others(12): Show a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0005g0051 a0001c0001t0005g0085 a0001c0001t0005g0344 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0012g0351 a0001c0001t0027g0357 a0001c0001t0027g0362 a0001c0001t0050g0367 a0001c0004t0012g0170 a0001c0005t0006g0369	15	286	0.0524	30	c.158 others(49): Show c.1582-3132_1582-3131insCACATATGTGTACATGCACATATATA CACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884616	T T	TACACATA others(23): Show TACACATATGTGTACATGTACATATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01261.hp2 HG01952.hp1 others(18): Show HG00408.hp1 HG01261.hp2 HG01952.hp1 HG01978.hp1 HG02015.hp2 HG02155.hp1 HG02257.hp1 HG03195.hp1 NA18952.hp2 NA18957.hp2 NA18964.hp1 NA18977.hp1 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18998.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19062.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 others(5): Show a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0021	a0001c0001t0021g0086 a0001c0002t0001g0004 a0001c0002t0001g0038 others(17): Show a0001c0001t0021g0086 a0001c0002t0001g0004 a0001c0002t0001g0038 a0001c0002t0001g0093 a0001c0002t0001g0112 a0001c0002t0001g0126 a0001c0002t0001g0162 a0001c0002t0001g0193 a0001c0002t0001g0265 a0001c0002t0001g0317 a0001c0002t0001g0337 a0001c0002t0004g0021 a0001c0002t0004g0090 a0001c0002t0004g0324 a0001c0002t0005g0023 a0001c0002t0010g0009 a0001c0002t0010g0300 a0001c0002t0012g0158 a0001c0002t0013g0036 a0001c0002t0021g0061	21	292	0.0719	30	c.158 others(49): Show c.1582-3132_1582-3131insCACATATGTGTACATGTACATATATA CACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN2_chr3_11999388_12197032	12098856	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	16	0.0625	30	c.378 others(49): Show c.378-41770_378-41769insTATATATATATATATATATATATATA TATA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN3_chr22_32502820_33063381	32572280	T T	TTTCCTTC others(23): Show TTTCCTTCCTTCCTTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	184	0.0054	30	c.774 others(49): Show c.774+24393_774+24394insGGGAAGGAAGGAAGGAAAGGAAGGAA GGAA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32650226	T T	TCCCTCCC others(23): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0142 a0002c0002t0051g0142	1	135	0.0074	30	c.712 others(49): Show c.712-53491_712-53490insGGAGGGAGGGAGGGAGGGAGGGAGGG AGGG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32650230	T T	TCCCTCCC others(23): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0104 a0001c0003t0052g0104	1	105	0.0095	30	c.712 others(49): Show c.712-53495_712-53494insGGAGGGAGGGAGGGAGGGAGGGAGGG AGGG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32747305	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp1 HG03540.hp2 others(2): Show HG02970.hp1 HG03041.hp1 HG03540.hp2 HG04228.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0034 a0001c0001t0039 others(2): Show a0001c0001t0008 a0001c0001t0034 a0001c0001t0039 a0002c0002t0004 a0002c0002t0046	a0001c0001t0008g0075 a0001c0001t0034g0108 a0001c0001t0039g0144 others(2): Show a0001c0001t0008g0075 a0001c0001t0034g0108 a0001c0001t0039g0144 a0002c0002t0004g0152 a0002c0002t0046g0101	5	67	0.0746	30	c.711 others(51): Show c.711+117609_711+117610insGTTTTGTTTTGTTTTGTTTTGTTT TGTTTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02258.hp2 HG02280.hp1 others(4): Show HG00735.hp2 HG02258.hp2 HG02280.hp1 HG02723.hp1 HG03927.hp1 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0038 others(1): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0038 a0001c0001t0054	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0070 others(4): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0070 a0001c0001t0003g0169 a0001c0001t0024g0065 a0001c0001t0038g0038 a0001c0001t0054g0002	7	17	0.4118	30	c.711 others(51): Show c.711+106233_711+106234insATATATATATATATATATATATAT ATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32899101	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01074.hp1 others(19): Show HG00140.hp2 HG00738.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp1 HG01258.hp1 HG01433.hp1 HG02165.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02965.hp2 HG03017.hp1 HG03492.hp1 HG03516.hp1 HG03704.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0045 a0001c0001t0065 a0001c0001t0069 a0001c0001t0072 a0001c0001t0078 a0001c0004t0056 a0002c0002t0002 a0002c0002t0004 a0002c0002t0050 a0002c0002t0055	a0001c0001t0001g0086 a0001c0001t0001g0117 a0001c0001t0002g0024 others(19): Show a0001c0001t0001g0086 a0001c0001t0001g0117 a0001c0001t0002g0024 a0001c0001t0002g0118 a0001c0001t0010g0166 a0001c0001t0012g0131 a0001c0001t0012g0173 a0001c0001t0013g0139 a0001c0001t0016g0064 a0001c0001t0021g0063 a0001c0001t0024g0065 a0001c0001t0025g0023 a0001c0001t0045g0068 a0001c0001t0065g0076 a0001c0001t0069g0126 a0001c0001t0072g0031 a0001c0001t0078g0003 a0001c0004t0056g0021 a0002c0002t0002g0085 a0002c0002t0004g0059 a0002c0002t0050g0025 a0002c0002t0055g0062	22	24	0.9167	30	c.462 others(49): Show c.462-29977_462-29976insGTTTTGTTTTGTTTTGTTTTGTTTTG TTTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	4/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	33028670	G G	GTGGTGGT others(23): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	154	0.0065	30	c.-16 others(51): Show c.-162-21847_-162-21846insTCACCACCACCACCACCACCACCA CCACCA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	1/13			chr22	TogoVar
SYNE1_chr6_152116687_152173312	152139717	A A	AAAAGAAA others(23): Show AAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG03471.hp1 HG02976.hp2 HG03130.hp2 HG03471.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0004 a0003c0013t0005 a0003c0013t0004 a0003c0013t0005	a0003c0013t0004g0130 a0003c0013t0005g0097 a0003c0013t0005g0098 a0003c0013t0004g0130 a0003c0013t0005g0097 a0003c0013t0005g0098	3	16	0.1875	30	c.199 others(47): Show c.1992+232_1992+233insCTTTCTTTCTTTCTTTTTCTTTCTTTCT TT	SYNE1	ENSG00000131018.25	transcript	ENST00000354674.5	protein_coding	12/17			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152139717	A A	AAAAGAAA others(23): Show AAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG02976.hp2 HG03130.hp2	a0079 a0084 a0079 a0084	a0079c0165 a0084c0087 a0079c0165 a0084c0087	a0079c0165t0002 a0084c0087t0004 a0079c0165t0002 a0084c0087t0004	a0079c0165t0002g0055 a0084c0087t0004g0074 a0079c0165t0002g0055 a0084c0087t0004g0074	2	5	0.4000	30	c.254 others(49): Show c.25458+232_25458+233insCTTTCTTTCTTTCTTTTTCTTTCTTT CTTT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	140/145			chr6	TogoVar
SYNE2_chr14_63848004_64231433	63944824	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0018 a0018	a0018c0096 a0018c0096	a0018c0096t0002 a0018c0096t0002	a0018c0096t0002g0004 a0018c0096t0002g0004	1	42	0.0238	30	c.408 others(47): Show c.408+2706_408+2707insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974892	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0038 a0038	a0038c0092 a0038c0092	a0038c0092t0004 a0038c0092t0004	a0038c0092t0004g0008 a0038c0092t0004g0008	1	12	0.0833	30	c.112 others(49): Show c.1129-1670_1129-1669insGTGTGTATATATATATATATATATAT ATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE3_chr14_95402266_95521650	95488697	G G	GGAGGAGA others(23): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0022 a0001c0011t0022	a0001c0011t0022g0088 a0001c0011t0022g0088	1	105	0.0095	30	c.-14 others(49): Show c.-14-12863_-14-12862insTCTTCTCCTCTCCTCTCCTCTCCTCT CCTC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	1/17			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95488697	G G	GGAGGAGA others(23): Show GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01261.hp1 others(5): Show HG00738.hp1 HG01074.hp1 HG01261.hp1 HG01346.hp2 HG01517.hp2 HG02735.hp2 NA18950.hp2 NA18953.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0012	a0001c0001 a0002c0002 a0003c0006 others(3): Show a0001c0001 a0002c0002 a0003c0006 a0004c0003 a0006c0013 a0012c0027	a0001c0001t0077 a0001c0001t0162 a0002c0002t0124 others(5): Show a0001c0001t0077 a0001c0001t0162 a0002c0002t0124 a0002c0002t0192 a0003c0006t0042 a0004c0003t0001 a0006c0013t0181 a0012c0027t0035	a0001c0001t0077g0283 a0001c0001t0162g0257 a0002c0002t0124g0066 others(5): Show a0001c0001t0077g0283 a0001c0001t0162g0257 a0002c0002t0124g0066 a0002c0002t0192g0278 a0003c0006t0042g0123 a0004c0003t0001g0227 a0006c0013t0181g0365 a0012c0027t0035g0291	8	112	0.0714	30	c.-14 others(49): Show c.-14-12892_-14-12863dupTCCTCTCCTCTCCTCTCCTCTCCTCT CCTC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	1/17			chr14	TogoVar
SYNJ2BP_chr14_70361499_70422090	70412522	G G	GTATATAT others(23): Show GTATATATGTATGTATAGTATATATACAGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0266 a0001c0001t0031g0266	1	169	0.0059	30	c.64+ others(45): Show c.64+4348_64+4377dupTACTGTATATATACTATACATACATATATA	SYNJ2BP	ENSG00000213463.5	transcript	ENST00000256366.6	protein_coding	1/3			chr14	TogoVar
SYNJ2BP_chr14_70361499_70422090	70412566	A A	ATAGTATA others(23): Show ATAGTATATATACAGTATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18970.hp2 NA18979.hp1 others(1): Show HG01243.hp2 NA18970.hp2 NA18979.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0040 a0001c0001t0007 a0001c0001t0040	a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0205 others(1): Show a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0040g0057	4	356	0.0112	30	c.64+ others(45): Show c.64+4333_64+4334insCACATACATATATATACTGTATATATACTA	SYNJ2BP	ENSG00000213463.5	transcript	ENST00000256366.6	protein_coding	1/3			chr14	TogoVar

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