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
SEMA3C_chr7_80737538_80924051	80754957	G G	GTTTTTTT others(17): Show GTTTTTTTTTTGTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0119 a0001c0006t0001g0119	1	244	0.0041	24	c.164 others(43): Show c.1643+3373_1643+3374insAAAACAAAAAAAACAAAAAAAAAA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80754957	G G	GTTTTTTT others(17): Show GTTTTTTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	244	0.0041	24	c.164 others(43): Show c.1643+3373_1643+3374insAAAAAAAAAAAAACAAAAAAAAAA	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	15/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80815554	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0204 a0002c0005t0001g0204	1	244	0.0041	24	c.447 others(41): Show c.447+2744_447+2745insTTTTTTTTTTTTTTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	5/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066892	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	266	0.0038	24	c.589 others(41): Show c.589+1298_589+1299insTGTGTGTGTGTGTGTGTGTGTGTG	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CATACACA others(17): Show CATACACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02109.hp1 HG03098.hp1 HG00423.hp2 HG02109.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0057 a0001c0001t0002g0224 a0002c0002t0003g0016 a0001c0001t0001g0057 a0001c0001t0002g0224 a0002c0002t0003g0016	3	266	0.0113	24	c.589 others(41): Show c.589+1277_589+1278insCTCTCTCTCTCTCTGTGTGTGTAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83390206	C C	CATATATG others(17): Show CATATATGCGCGTATATATGCGCGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02257.hp1 others(5): Show HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02976.hp1 HG03209.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 others(2): Show a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0063 a0001c0001t0070	a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 others(5): Show a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 a0001c0001t0022g0199 a0001c0001t0022g0200 a0001c0001t0024g0004 a0001c0001t0063g0065 a0001c0001t0070g0073	8	226	0.0354	24	c.166 others(43): Show c.1667+2325_1667+2348dupACGCGCATATATACGCGCATATAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83435489	A A	AGGAGGCC others(17): Show AGGAGGCCGAGGCAGGAGAATTGCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp2 HG03942.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0093 a0001c0002t0011g0017 a0001c0002t0001g0093 a0001c0002t0011g0017	2	226	0.0089	24	c.457 others(43): Show c.457-17030_457-17007dupAGCAATTCTCCTGCCTCGGCCTCC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83554977	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01081.hp1 others(7): Show HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG02083.hp1 HG02698.hp1 HG03490.hp1 HG03491.hp1 HG03942.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0008 a0001c0002t0014 a0001c0002t0080 a0001c0003t0001 a0001c0003t0002 a0002c0004t0003	a0001c0001t0001g0088 a0001c0001t0009g0092 a0001c0002t0001g0093 others(7): Show a0001c0001t0001g0088 a0001c0001t0009g0092 a0001c0002t0001g0093 a0001c0002t0008g0089 a0001c0002t0014g0087 a0001c0002t0080g0094 a0001c0003t0001g0082 a0001c0003t0001g0085 a0001c0003t0002g0096 a0002c0004t0003g0090	10	226	0.0443	24	c.116 others(43): Show c.116-64704_116-64703insATTTATTTATTTATTTATTTATTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83554997	T T	TAAATAAA others(17): Show TAAATAAATAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18961.hp1 HG00733.hp1 NA18961.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0079 a0001c0003t0001 a0001c0003t0079	a0001c0003t0001g0077 a0001c0003t0079g0076 a0001c0003t0001g0077 a0001c0003t0079g0076	2	226	0.0089	24	c.116 others(43): Show c.116-64724_116-64723insTTTTATTTATTTATTTATTTATTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTCTCTCT others(17): Show CTCTCTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03834.hp1 NA18945.hp1 others(2): Show HG03492.hp1 HG03834.hp1 NA18945.hp1 NA18969.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0007 a0001c0004t0004 a0001c0001t0001 a0001c0003t0007 a0001c0004t0004	a0001c0001t0001g0039 a0001c0003t0007g0107 a0001c0004t0004g0044 others(2): Show a0001c0001t0001g0039 a0001c0003t0007g0107 a0001c0004t0004g0044 a0001c0004t0004g0183 a0001c0004t0004g0188	5	370	0.0135	24	c.-30 others(43): Show c.-309-5748_-309-5747insAAAAAAAAAAAAAAAAAAGAGAGA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9088636	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18970.hp1 HG03130.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0066 a0001c0003t0005 a0001c0001t0066 a0001c0003t0005	a0001c0001t0066g0106 a0001c0003t0005g0021 a0001c0001t0066g0106 a0001c0003t0005g0021	2	134	0.0149	24	c.207 others(45): Show c.2073+19503_2073+19504insTATATATATATATATATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9088637	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0058 a0001c0006t0058	a0001c0006t0058g0083 a0001c0006t0058g0083	1	134	0.0075	24	c.207 others(45): Show c.2073+19502_2073+19503insATATATATATATATATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9154093	A A	ATATATAT others(17): Show ATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03209.hp2 HG03654.hp2 HG00140.hp2 HG03209.hp2 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0004t0049 a0001c0005t0042 a0001c0004t0001 a0001c0004t0049 a0001c0005t0042	a0001c0004t0001g0020 a0001c0004t0049g0011 a0001c0005t0042g0070 a0001c0004t0001g0020 a0001c0004t0049g0011 a0001c0005t0042g0070	3	134	0.0224	24	c.148 others(41): Show c.1481+394_1481+395insCACACACACATATATATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	12/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9154093	A A	ATATATAT others(17): Show ATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0036 a0001c0013t0036	a0001c0013t0036g0008 a0001c0013t0036g0008	1	134	0.0075	24	c.148 others(41): Show c.1481+394_1481+395insCACACACACACATATATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	12/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9154093	A A	ATATATAT others(17): Show ATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0034 a0001c0002t0004g0034	1	134	0.0075	24	c.148 others(41): Show c.1481+394_1481+395insCACACACACACACATATATATATA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	12/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9284106	T T	TAGAGAGA others(17): Show TAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0080 a0001c0001t0053g0080	1	134	0.0075	24	c.270 others(43): Show c.270+34242_270+34265dupCTCTCTCTCTCTCTCTCTCTCTCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	5/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9400501	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	134	0.0075	24	c.-77 others(43): Show c.-77-20479_-77-20478insAAAAAAAAAAAAAAAAAAAAAAAA	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122908291	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG04228.hp2 HG03139.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0003 a0002c0002t0001 a0001c0005t0003 a0002c0002t0001	a0001c0005t0003g0050 a0002c0002t0001g0148 a0001c0005t0003g0050 a0002c0002t0001g0148	2	290	0.0069	24	c.18 others(35): Show c.1851_*1852insATTTATTTATTTATTTATTTATTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		790		chr3	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0271 a0016c0021t0001g0271	1	290	0.0035	24	c.474 others(41): Show c.474+3715_474+3738dupAAAAAAAAAAAAAAAAAAAAAAAA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116579517	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01515.hp1 HG01517.hp1 others(10): Show HG00423.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG01993.hp1 HG02083.hp1 HG02895.hp2 HG03139.hp2 HG03239.hp2 HG03491.hp2 HG03710.hp2 NA19002.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0022 a0001c0001t0030 a0001c0001t0062 a0001c0001t0072 a0001c0004t0035 a0002c0002t0011	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0250 others(10): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0003g0009 a0001c0001t0011g0258 a0001c0001t0011g0259 a0001c0001t0022g0297 a0001c0001t0030g0260 a0001c0001t0062g0018 a0001c0001t0072g0242 a0001c0004t0035g0274 a0002c0002t0011g0216	13	304	0.0428	24	c.-53 others(35): Show c.-5372_-5371insGAAAGAAAGAAAGAAAGAAAGAAA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding		4695		chr5	TogoVar
SEMA6D_chr15_47712505_47779228	47746984	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00642.hp1 others(5): Show HG00140.hp1 HG00609.hp2 HG00642.hp1 HG01069.hp2 HG01081.hp1 HG01168.hp1 HG02735.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0015 a0002c0003t0023 others(1): Show a0002c0003t0004 a0002c0003t0015 a0002c0003t0023 a0002c0003t0084	a0002c0003t0004g0022 a0002c0003t0004g0125 a0002c0003t0015g0117 others(4): Show a0002c0003t0004g0022 a0002c0003t0004g0125 a0002c0003t0015g0117 a0002c0003t0015g0130 a0002c0003t0015g0153 a0002c0003t0023g0152 a0002c0003t0084g0176	8	388	0.0206	24	c.-54 others(43): Show c.-54-12742_-54-12741insATATATATATATATATATATATAT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SEMA6D_chr15_47712505_47779228	47746984	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19076.hp1 HG00423.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0083 a0002c0003t0016 a0001c0006t0083 a0002c0003t0016	a0001c0006t0083g0139 a0002c0003t0016g0141 a0001c0006t0083g0139 a0002c0003t0016g0141	2	388	0.0052	24	c.-54 others(43): Show c.-54-12760_-54-12759insGTATATATATATATATATATATAT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SEMG1_chr20_45202033_45214768	45210689	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG03195.hp2 others(2): Show HG02809.hp2 HG02965.hp2 HG03195.hp2 HG03516.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	5	408	0.0123	24	c.11 others(35): Show c.1133_*1134insGGAAGGAAGGAAGGAAGGAAGGAA	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding		922		chr20	TogoVar
SEMG2_chr20_45216373_45229458	45225392	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	362	0.0028	24	c.11 others(35): Show c.1146_*1147insAGAAAGAAAGAAAGAAAGAAAAAG	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		935		chr20	TogoVar
SEMG2_chr20_45216373_45229458	45225520	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 NA19068.hp2 HG03041.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0002 a0001c0001t0001g0003 a0002c0002t0001g0002	2	362	0.0055	24	c.12 others(35): Show c.1274_*1275insAAAGAAAGAAAGAAAGAAAGAAAG	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1063		chr20	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01952.hp2 others(4): Show HG01109.hp1 HG01123.hp1 HG01952.hp2 HG02109.hp1 HG03017.hp2 HG03834.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0012t0004 a0001c0001t0004 a0001c0012t0004	a0001c0001t0004g0310 a0001c0001t0004g0315 a0001c0001t0004g0323 others(4): Show a0001c0001t0004g0310 a0001c0001t0004g0315 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0012t0004g0337	7	394	0.0178	24	c.553 others(41): Show c.553-3525_553-3524insTATATATATATATATATATATATA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	394	0.0025	24	c.553 others(41): Show c.553-3542_553-3541insGTGTGTATATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02647.hp1 HG02818.hp1 others(11): Show HG00741.hp2 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 NA18906.hp1 NA18949.hp1 NA18967.hp2 NA19030.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0007 a0007c0006 a0001c0001 a0004c0007 a0007c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021 a0004c0007t0001 a0007c0006t0005	a0001c0001t0001g0084 a0001c0001t0004g0236 a0001c0001t0004g0318 others(11): Show a0001c0001t0001g0084 a0001c0001t0004g0236 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0343 a0001c0001t0004g0347 a0001c0001t0005g0225 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0284 a0001c0001t0021g0117 a0004c0007t0001g0012 a0007c0006t0005g0226	14	394	0.0355	24	c.553 others(41): Show c.553-3542_553-3541insGTATATATATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185587570	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02451.hp1 NA18943.hp2 others(5): Show HG01928.hp2 HG02451.hp1 NA18943.hp2 NA18944.hp1 NA18953.hp1 NA18998.hp1 NA19078.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0027 a0002c0002t0041 others(4): Show a0002c0002t0017 a0002c0002t0027 a0002c0002t0041 a0002c0002t0079 a0002c0002t0081 a0002c0002t0098 a0002c0002t0109	a0002c0002t0017g0333 a0002c0002t0027g0335 a0002c0002t0027g0337 others(5): Show a0002c0002t0017g0333 a0002c0002t0027g0335 a0002c0002t0027g0337 a0002c0002t0041g0332 a0002c0002t0079g0331 a0002c0002t0081g0334 a0002c0002t0098g0336 a0002c0002t0109g0341	8	360	0.0222	24	c.101 others(41): Show c.101+1070_101+1071insTTTTTTTTTTTTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185623826	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0104 a0002c0002t0104	a0002c0002t0104g0320 a0002c0002t0104g0320	1	360	0.0028	24	c.152 others(41): Show c.1527-171_1527-148dupAAAAAAAAAAAAAAAAAAAAAAAA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185631477	T T	TCTCCCTC others(17): Show TCTCCCTCCCTCCCCCTCCCCCCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0111 a0002c0002t0111	a0002c0002t0111g0256 a0002c0002t0111g0256	1	360	0.0028	24	c.16 others(35): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCCTCC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG04115.hp2 HG01192.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0019 a0001c0001t0011g0018 a0001c0001t0002g0019 a0001c0001t0011g0018	2	306	0.0065	24	c.188 others(43): Show c.1885-8827_1885-8826insAAAAAAAAAAAATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02698.hp1 HG01516.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0039 a0001c0001t0002g0052	2	306	0.0065	24	c.188 others(43): Show c.1885-8827_1885-8826insAAAAAAAAAATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04204.hp2 NA18964.hp2 others(1): Show HG00738.hp1 HG04204.hp2 NA18964.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0045 a0001c0001t0002 a0001c0001t0023 a0001c0001t0045	a0001c0001t0002g0043 a0001c0001t0023g0003 a0001c0001t0045g0045 a0001c0001t0002g0043 a0001c0001t0023g0003 a0001c0001t0045g0045	4	306	0.0131	24	c.188 others(43): Show c.1885-8827_1885-8826insAAAAAAAATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0006 a0001c0002t0005 a0001c0002t0006	a0001c0002t0005g0182 a0001c0002t0006g0181 a0001c0002t0005g0182 a0001c0002t0006g0181	2	306	0.0065	24	c.188 others(43): Show c.1885-8827_1885-8826insAAAAAATATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0025 a0001c0001t0062g0025	1	306	0.0033	24	c.188 others(43): Show c.1885-8827_1885-8826insAAAATATATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75705924	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0040 a0002c0003t0019g0040	1	362	0.0028	24	c.271 others(43): Show c.2716+2852_2716+2853insTTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	19/23			chr6	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	362	0.0028	24	c.43 others(35): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SENP7_chr3_101319205_101518212	101364228	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp2 HG03471.hp2 others(1): Show HG00408.hp1 HG02015.hp2 HG03471.hp2 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0137 a0001c0003t0002g0167 a0001c0003t0002g0174 others(1): Show a0001c0003t0002g0137 a0001c0003t0002g0167 a0001c0003t0002g0174 a0001c0003t0002g0179	4	370	0.0108	24	c.147 others(41): Show c.1476+582_1476+605dupCTTTCTTTCTTTCTTTCTTTCTTT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	10/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463364	A A	AATAAATA others(17): Show AATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0286 a0005c0007t0001g0286	1	370	0.0027	24	c.187 others(41): Show c.187-4313_187-4312insATATATATATATATATATATTTAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463380	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01928.hp2 NA18959.hp1 others(2): Show HG00280.hp1 HG01928.hp2 NA18959.hp1 NA18977.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0199 a0001c0001t0001g0246 a0001c0001t0001g0266 others(2): Show a0001c0001t0001g0199 a0001c0001t0001g0246 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0004g0194	5	370	0.0135	24	c.187 others(41): Show c.187-4329_187-4328insGTATATATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463390	T T	TACACATA others(17): Show TACACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0101 a0003c0004t0002g0101	1	370	0.0027	24	c.187 others(41): Show c.187-4339_187-4338insGTATATATATATATATATATGTGT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463394	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0100 a0003c0004t0002g0100	1	370	0.0027	24	c.187 others(41): Show c.187-4343_187-4342insGTGTATATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463402	T T	TATACATA others(17): Show TATACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	370	0.0027	24	c.187 others(41): Show c.187-4351_187-4350insGTGTATATATATATATATATGTAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101499535	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02886.hp2 HG03098.hp1 HG01175.hp2 HG02886.hp2 HG03098.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0010 a0003c0004 a0006c0010	a0003c0004t0002 a0006c0010t0002 a0003c0004t0002 a0006c0010t0002	a0003c0004t0002g0102 a0006c0010t0002g0103 a0006c0010t0002g0104 a0003c0004t0002g0102 a0006c0010t0002g0103 a0006c0010t0002g0104	3	370	0.0081	24	c.90+ others(39): Show c.90+1534_90+1535insAAAAAAAAAAAAAAAAAAAAAAAA	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	2/23			chr3	TogoVar
SEPTIN11_chr4_76944752_77043615	76956962	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0086 a0001c0001t0006g0086	1	370	0.0027	24	c.27+ others(39): Show c.27+7041_27+7064dupTGTGTGTGTGTGTGTGTGTGTGTG	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN11_chr4_76944752_77043615	77016615	C C	CACATATA others(17): Show CACATATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	370	0.0027	24	c.687 others(41): Show c.687+1599_687+1600insCATATATATATATATATACACATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN11_chr4_76944752_77043615	77016633	C C	CACATATA others(17): Show CACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03453.hp2 HG03491.hp1 others(2): Show HG00639.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0330 others(2): Show a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0337 a0001c0001t0026g0313	5	370	0.0135	24	c.687 others(41): Show c.687+1617_687+1618insCATATATATATATATATATATATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	390	0.0026	24	c.720 others(41): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG06807.hp2 HG01891.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0081 a0001c0001t0006g0073 a0001c0001t0006g0081	2	390	0.0051	24	c.720 others(41): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar

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