Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SERINC5_chr5_80133727_80261048	80137642	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01069.hp1 others(28): Show HG00639.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG03239.hp2 HG03490.hp2 NA18522.hp2 NA18954.hp1 NA19074.hp1 NA19079.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 others(6): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0059 a0001c0001t0065	a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0048 others(28): Show a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0084 a0001c0001t0004g0138 a0001c0001t0004g0154 a0001c0001t0004g0171 a0001c0001t0004g0199 a0001c0001t0004g0203 a0001c0001t0004g0221 a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0247 a0001c0001t0004g0282 a0001c0001t0011g0009 a0001c0001t0011g0123 a0001c0001t0011g0245 a0001c0001t0012g0131 a0001c0001t0012g0180 a0001c0001t0012g0238 a0001c0001t0012g0251 a0001c0001t0024g0005 a0001c0001t0024g0165 a0001c0001t0053g0061 a0001c0001t0054g0253 a0001c0001t0056g0198 a0001c0001t0059g0059 a0001c0001t0065g0132	31	286	0.1084	11	c.60 others(22): Show c.6010_*6020dupTTTTTTTTTTT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding		1084		chr5	TogoVar
SERINC5_chr5_80133727_80261048	80148189	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02004.hp1 HG02055.hp1 others(1): Show HG00741.hp1 HG02004.hp1 HG02055.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0001t0001 a0001c0001t0006 a0001c0002t0003	a0001c0001t0001g0046 a0001c0001t0006g0064 a0001c0001t0006g0114 others(1): Show a0001c0001t0001g0046 a0001c0001t0006g0064 a0001c0001t0006g0114 a0001c0002t0003g0202	4	286	0.0140	11	c.105 others(28): Show c.1054-916_1054-906dupAAAAAAAAAAA	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	9/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80155572	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00735.hp2 others(15): Show HG00609.hp1 HG00639.hp2 HG00735.hp2 HG01106.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02818.hp2 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0002c0003 a0002c0005	a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 others(14): Show a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0041 a0001c0001t0042 a0001c0001t0053 a0001c0001t0054 a0001c0001t0065 a0001c0001t0075 a0001c0002t0003 a0001c0002t0017 a0001c0002t0022 a0001c0006t0020 a0001c0009t0035 a0002c0003t0004 a0002c0003t0011 a0002c0005t0019	a0001c0001t0009g0126 a0001c0001t0013g0067 a0001c0001t0020g0057 others(15): Show a0001c0001t0009g0126 a0001c0001t0013g0067 a0001c0001t0020g0057 a0001c0001t0041g0279 a0001c0001t0042g0065 a0001c0001t0053g0061 a0001c0001t0054g0253 a0001c0001t0065g0132 a0001c0001t0075g0284 a0001c0002t0003g0087 a0001c0002t0017g0145 a0001c0002t0022g0272 a0001c0006t0020g0127 a0001c0009t0035g0209 a0002c0003t0004g0118 a0002c0003t0011g0119 a0002c0005t0019g0042 a0002c0005t0019g0273	18	286	0.0629	11	c.986 others(28): Show c.986+3253_986+3263dupTTTTTTTTTTT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	8/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80174369	A A	AATAATAA others(4): Show AATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	286	0.0035	11	c.551 others(26): Show c.551+584_551+585insATTATTATTAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	5/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80222587	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0276 a0001c0001t0055g0276	1	286	0.0035	11	c.28- others(28): Show c.28-19535_28-19534insCACACACACAC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80230459	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02145.hp1 others(5): Show HG01243.hp2 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02976.hp2 HG03195.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0025 a0001c0001t0040 a0001c0001t0053	a0001c0001t0002g0277 a0001c0001t0004g0138 a0001c0001t0006g0064 others(5): Show a0001c0001t0002g0277 a0001c0001t0004g0138 a0001c0001t0006g0064 a0001c0001t0007g0069 a0001c0001t0007g0150 a0001c0001t0025g0050 a0001c0001t0040g0066 a0001c0001t0053g0061	8	286	0.0280	11	c.27+ others(28): Show c.27+25436_27+25437insCTTTTTTTTTT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERP2_chr13_44368824_44402714	44392196	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02451.hp1 NA18943.hp2 others(1): Show HG01346.hp1 HG02451.hp1 NA18943.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0004g0054 a0001c0001t0001g0011 a0001c0001t0004g0054	4	354	0.0113	11	c.158 others(28): Show c.158-5069_158-5059dupAAAAAAAAAAA	SERP2	ENSG00000151778.11	transcript	ENST00000379179.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERPINA11_chr14_94437464_94457800	94452598	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp2 HG00140.hp1 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	2	452	0.0044	11	c.-4+ others(24): Show c.-4+130_-4+131insGTGTGTGTGTG	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94580418	T T	TGTGGATA others(4): Show TGTGGATATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0026 a0002c0009t0026	a0002c0009t0026g0280 a0002c0009t0026g0280	1	464	0.0022	11	c.-11 others(22): Show c.-1186_-1185insGTGGATATCCA	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding		1007		chr14	TogoVar
SERPINA6_chr14_94299248_94328336	94325948	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	427	0.0023	11	c.-27 others(22): Show c.-2702_-2701insAAAAAAAAAAA	SERPINA6	ENSG00000170099.6	transcript	ENST00000341584.4	protein_coding		2613		chr14	TogoVar
SERPINB12_chr18_63537369_63574329	63559055	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18964.hp1 HG02015.hp2 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0079 a0002c0002t0003g0082 a0002c0002t0003g0079 a0002c0002t0003g0082	2	402	0.0050	11	c.304 others(26): Show c.304-519_304-518insTTCTTTCTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB1_chr6_2827332_2846863	2841947	C C	CAACAACA others(4): Show CAACAACAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0036 a0001c0001t0017g0036	1	478	0.0021	11	c.-14 others(20): Show c.-145_-144insTTGTTGTTGTT	SERPINB1	ENSG00000021355.13	transcript	ENST00000380739.6	protein_coding		85		chr6	TogoVar
SERPINB5_chr18_63471958_63510085	63484741	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp2 others(34): Show HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00673.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01975.hp2 HG01981.hp2 HG02723.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18950.hp1 NA18955.hp1 NA18967.hp1 NA18973.hp1 NA18985.hp2 NA18989.hp1 NA18998.hp2 NA19006.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19070.hp2 NA19082.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0004c0007 a0001c0001 a0004c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0004c0005t0003 a0004c0005t0006 a0004c0007t0002 a0004c0007t0007	a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0126 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0193 a0004c0005t0001g0133 a0004c0005t0003g0134 a0004c0005t0006g0007 a0004c0005t0006g0135 a0004c0007t0002g0202 a0004c0007t0007g0218	37	410	0.0902	11	c.168 others(26): Show c.168+157_168+167dupTTTTTTTTTTT	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783247	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0393 a0001c0001t0009g0393	1	432	0.0023	11	c.168 others(26): Show c.168+710_168+720dupGAAAGAAAGAA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783251	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0260 a0001c0001t0011g0260	1	432	0.0023	11	c.168 others(26): Show c.168+714_168+724dupGAAAGAAAGAA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63808208	G G	GTGGACTT others(4): Show GTGGACTTCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	432	0.0023	11	c.35 others(22): Show c.3573_*3574insTGGACTTCAAT	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding		2839		chr18	TogoVar
SERPINB9_chr6_2882270_2908309	2892105	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 NA18906.hp2 HG03139.hp2 HG03195.hp2 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0004 a0001c0001 a0006c0004	a0001c0001t0003 a0001c0001t0086 a0006c0004t0062 a0001c0001t0003 a0001c0001t0086 a0006c0004t0062	a0001c0001t0003g0159 a0001c0001t0086g0085 a0006c0004t0062g0080 a0001c0001t0003g0159 a0001c0001t0086g0085 a0006c0004t0062g0080	3	462	0.0065	11	c.568 others(26): Show c.568-128_568-118dupTTTTTTTTTTT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	412	0.0024	11	c.889 others(26): Show c.889+580_889+590dupAAAAAAAAAAA	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINE1_chr7_101122104_101144247	101136399	G G	GGAAAGAA others(4): Show GGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	436	0.0023	11	c.108 others(28): Show c.1087+598_1087+599insGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8			chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101136404	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	436	0.0023	11	c.108 others(28): Show c.1088-595_1088-594insGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101136432	G G	GAAAAGAA others(4): Show GAAAAGAAAGAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0133 a0001c0001t0020g0133	1	436	0.0023	11	c.108 others(28): Show c.1088-566_1088-565insAGAAAGATAAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224005065	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	374	0.0027	11	c.-22 others(28): Show c.-22-3144_-22-3143insTATATATATAT	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINE2_chr2_223970045_224044286	224044128	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA19030.hp1 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0291 a0001c0003t0002g0317 a0001c0003t0002g0291 a0001c0003t0002g0317	2	374	0.0054	11	c.-50 others(22): Show c.-5053_-5052insGAAAGAAAGAA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		4843		chr2	TogoVar
SERPINI1_chr3_167730721_167830569	167763357	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	232	0.0043	11	c.-18 others(30): Show c.-18-25754_-18-25753insGTGTGTGTGTG	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8			chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167793596	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0030 a0004c0005t0001g0030	1	232	0.0043	11	c.676 others(26): Show c.676+813_676+814insATATTTTTTTT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167793596	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp1 HG03041.hp2 HG01099.hp1 HG01255.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0140 a0002c0002t0001g0202 a0002c0002t0001g0206	3	232	0.0129	11	c.676 others(26): Show c.676+817_676+818insTTTTTTTTTTT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI2_chr3_167436933_167479042	167456150	C C	CGTGTGTG others(4): Show CGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0062 a0003c0003t0001g0062	1	352	0.0028	11	c.867 others(28): Show c.867-3118_867-3117insCACACACACAC	SERPINI2	ENSG00000114204.16	transcript	ENST00000264677.9	protein_coding	5/8			chr3	TogoVar
SERTAD1_chr19_40416589_40430992	40419285	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0009 a0001c0004t0006g0009	1	368	0.0027	11	c.35 others(22): Show c.3550_*3551insCACACACACAC	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		2303		chr19	TogoVar
SERTAD1_chr19_40416589_40430992	40426758	T T	TTTATTTA others(4): Show TTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01433.hp1 others(9): Show HG00735.hp2 HG00741.hp2 HG01433.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 NA18946.hp2 NA19067.hp1 NA19077.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0005 a0001c0003t0009 a0001c0010t0005 a0001c0003t0005 a0001c0003t0009 a0001c0010t0005	a0001c0003t0005g0007 a0001c0003t0009g0021 a0001c0010t0005g0022 a0001c0003t0005g0007 a0001c0003t0009g0021 a0001c0010t0005g0022	12	368	0.0326	11	c.-89 others(20): Show c.-893_-892insTAAATAAATAA	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		767		chr19	TogoVar
SERTAD1_chr19_40416589_40430992	40427327	T T	TGCAGGAT others(4): Show TGCAGGATGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0026 a0002c0001t0001g0026	1	368	0.0027	11	c.-14 others(22): Show c.-1462_-1461insCCCCATCCTGC	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		1336		chr19	TogoVar
SERTAD3_chr19_40435844_40449335	40436123	A A	ACTATCTA others(4): Show ACTATCTATCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	378	0.0027	11	c.53 others(22): Show c.5366_*5367insATGATAGATAG	SERTAD3	ENSG00000167565.13	transcript	ENST00000322354.4	protein_coding		4720		chr19	TogoVar
SERTAD3_chr19_40435844_40449335	40439077	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(21): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG01243.hp2 HG01884.hp2 HG02451.hp1 HG02572.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG03130.hp1 HG03486.hp1 HG03490.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18965.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0011 a0001c0002t0022 a0001c0002t0003 a0001c0002t0011 a0001c0002t0022	a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0013 others(4): Show a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0013 a0001c0002t0003g0046 a0001c0002t0011g0022 a0001c0002t0011g0023 a0001c0002t0022g0044	24	378	0.0635	11	c.24 others(22): Show c.2412_*2413insAAAAAAAAAAA	SERTAD3	ENSG00000167565.13	transcript	ENST00000322354.4	protein_coding		1766		chr19	TogoVar
SERTAD3_chr19_40435844_40449335	40448607	A A	AATAACAA others(4): Show AATAACAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	378	0.0027	11	c.-44 others(22): Show c.-4400_-4399insGTTGTTGTTAT	SERTAD3	ENSG00000167565.13	transcript	ENST00000322354.4	protein_coding		4273		chr19	TogoVar
SERTM2_chrX_111506645_111527399	111522687	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02809.hp1 others(7): Show HG01891.hp2 HG02451.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03453.hp2 HG03486.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0006 a0001c0001t0003g0002 a0001c0001t0003g0004 others(2): Show a0001c0001t0002g0006 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0032 a0001c0001t0011g0034	10	259	0.0386	11	c.35 others(22): Show c.3557_*3558insTTTTTTTTTTT	SERTM2	ENSG00000260802.2	transcript	ENST00000569275.2	protein_coding		289		chrX	TogoVar
SESN1_chr6_108979309_109099846	109003782	G G	GCCATTTA others(4): Show GCCATTTATATA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	184	0.0054	11	c.280 others(28): Show c.280-1450_280-1440dupTATATAAATGG	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN2_chr1_28254518_28287491	28262621	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	338	0.0030	11	c.90+ others(26): Show c.90+2696_90+2706dupAAAAAAAAAAA	SESN2	ENSG00000130766.5	transcript	ENST00000253063.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SESN2_chr1_28254518_28287491	28286144	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01515.hp1 others(20): Show HG01069.hp2 HG01071.hp2 HG01515.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0013 a0001c0001 a0001c0007 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0007t0001 a0001c0013t0001	a0001c0001t0001g0056 a0001c0001t0002g0094 a0001c0001t0003g0011 others(16): Show a0001c0001t0001g0056 a0001c0001t0002g0094 a0001c0001t0003g0011 a0001c0001t0003g0043 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0186 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0015g0213 a0001c0007t0001g0025 a0001c0007t0001g0060 a0001c0007t0001g0061 a0001c0013t0001g0065	23	338	0.0681	11	c.53 others(22): Show c.5342_*5343insAAAAAAAAAAA	SESN2	ENSG00000130766.5	transcript	ENST00000253063.4	protein_coding		3654		chr1	TogoVar
SESN3_chr11_95160513_95236202	95161246	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00735.hp1 others(39): Show HG00280.hp2 HG00544.hp1 HG00735.hp1 HG01081.hp1 HG01256.hp2 HG01257.hp2 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02698.hp2 HG02735.hp1 HG03453.hp2 HG03704.hp2 HG04228.hp2 NA18612.hp2 NA18940.hp2 NA18948.hp1 NA18952.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp2 NA18972.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19057.hp1 NA19066.hp2 NA19070.hp1 NA19075.hp1 NA19080.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0038 a0001c0001t0053 a0001c0001t0061 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0002t0037 a0003c0006t0021	a0001c0001t0001g0198 a0001c0001t0006g0024 a0001c0001t0006g0218 others(38): Show a0001c0001t0001g0198 a0001c0001t0006g0024 a0001c0001t0006g0218 a0001c0001t0006g0228 a0001c0001t0006g0267 a0001c0001t0006g0278 a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0006g0302 a0001c0001t0006g0305 a0001c0001t0006g0316 a0001c0001t0006g0319 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0014g0264 a0001c0001t0014g0272 a0001c0001t0014g0273 a0001c0001t0014g0310 a0001c0001t0014g0314 a0001c0001t0014g0321 a0001c0001t0015g0182 a0001c0001t0015g0229 a0001c0001t0015g0253 a0001c0001t0015g0303 a0001c0001t0015g0308 a0001c0001t0015g0311 a0001c0001t0015g0317 a0001c0001t0032g0178 a0001c0001t0032g0274 a0001c0001t0032g0309 a0001c0001t0038g0065 a0001c0001t0038g0066 a0001c0001t0053g0096 a0001c0001t0061g0120 a0001c0001t0079g0312 a0001c0001t0081g0292 a0001c0001t0082g0349 a0001c0001t0083g0318 a0001c0002t0037g0076 a0001c0002t0037g0079 a0003c0006t0021g0105	42	392	0.1071	11	c.12 others(24): Show c.12008_*12009insTTTTTTTTTTT	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding		4266		chr11	TogoVar
SETBP1_chr18_44675888_45073510	44679972	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG03041.hp1 NA21309.hp1 HG02080.hp2 HG03041.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0019 a0003c0003t0011 a0001c0001t0001 a0002c0002t0019 a0003c0003t0011	a0001c0001t0001g0071 a0002c0002t0019g0128 a0003c0003t0011g0064 a0001c0001t0001g0071 a0002c0002t0019g0128 a0003c0003t0011g0064	3	140	0.0214	11	c.-12 others(22): Show c.-1222_-1221insTATATATATAT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding		915		chr18	TogoVar
SETBP1_chr18_44675888_45073510	44703348	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	140	0.0071	11	c.486 others(28): Show c.486+1552_486+1562dupTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0108 a0001c0001t0024g0108	1	140	0.0071	11	c.487 others(30): Show c.487-81360_487-81350dupAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44794266	G G	GTTTGAAA others(4): Show GTTTGAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01258.hp1 others(24): Show HG00639.hp2 HG01167.hp1 HG01258.hp1 HG01496.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA18981.hp2 NA19043.hp2 NA19083.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0009 a0001c0010 others(4): Show a0001c0001 a0001c0009 a0001c0010 a0001c0012 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0009t0002 a0001c0010t0007 a0001c0012t0003 a0002c0002t0001 a0002c0002t0014 a0003c0003t0001 a0003c0003t0002 a0003c0003t0016 a0005c0006t0003 a0005c0006t0022	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0049 others(24): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0002g0026 a0001c0001t0002g0127 a0001c0001t0003g0100 a0001c0001t0005g0138 a0001c0001t0009g0027 a0001c0009t0002g0106 a0001c0010t0007g0113 a0001c0012t0003g0069 a0002c0002t0001g0023 a0002c0002t0001g0081 a0002c0002t0001g0123 a0002c0002t0014g0130 a0003c0003t0001g0047 a0003c0003t0001g0109 a0003c0003t0002g0014 a0003c0003t0002g0116 a0003c0003t0016g0110 a0005c0006t0003g0022 a0005c0006t0022g0089	27	140	0.1929	11	c.487 others(30): Show c.487-74963_487-74962insTTGAAAAAAAT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	140	0.0071	11	c.540 others(30): Show c.540+16563_540+16573dupAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44988807	C C	CAGTAACC others(4): Show CAGTAACCTCTG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0042 a0001c0001t0025g0042	1	140	0.0071	11	c.400 others(32): Show c.4000+35470_4000+35480dupTAACCTCTGAG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGGTGGGG others(4): Show GGGTGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0019 a0019	a0019c0035 a0019c0035	a0019c0035t0023 a0019c0035t0023	a0019c0035t0023g0141 a0019c0035t0023g0141	1	262	0.0038	11	c.-45 others(22): Show c.-4521_-4520insGGTGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGTGGGGG others(4): Show GGTGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	262	0.0038	11	c.-45 others(22): Show c.-4521_-4520insGTGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121834974	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	262	0.0038	11	c.47 others(22): Show c.4735_*4736insTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2319		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121835028	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0005 a0008c0015t0005	a0008c0015t0005g0025 a0008c0015t0005g0025	1	262	0.0038	11	c.47 others(22): Show c.4789_*4790insTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2373		chr12	TogoVar
SETD2_chr3_47011436_47169113	47044344	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0264 a0001c0005t0004g0264	1	308	0.0033	11	c.709 others(30): Show c.7099-1655_7099-1645dupTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47050723	C C	CCTTTTTT others(4): Show CCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0182 a0002c0001t0001g0182	1	308	0.0033	11	c.696 others(30): Show c.6964-4103_6964-4102insAAAAAAAAAAG	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar

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