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
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	328	0.0031	48	c.296 others(65): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(41): Show ATATATATATATATGCGTATATATATACGCATATATATATATATACGCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02615.hp2 others(3): Show HG01891.hp1 HG02109.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0312 a0002c0004t0001g0313 a0002c0004t0001g0314 others(3): Show a0002c0004t0001g0312 a0002c0004t0001g0313 a0002c0004t0001g0314 a0002c0004t0001g0315 a0002c0004t0001g0322 a0002c0004t0001g0323	6	328	0.0183	48	c.-5+ others(63): Show c.-5+2701_-5+2702insCGCGTATATATATATATATGCGTATATATA TACGCATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(41): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA19064.hp1 HG00423.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0048 a0001c0001t0002g0021 a0001c0001t0002g0048	2	324	0.0062	48	c.11 others(59): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(41): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp1 NA18980.hp1 others(4): Show HG01109.hp2 HG01243.hp1 NA18980.hp1 NA18982.hp2 NA18998.hp1 NA19001.hp2 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0256 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0256 a0001c0001t0002g0012 a0004c0006t0001g0085 a0004c0006t0001g0088 a0004c0006t0001g0089	7	324	0.0216	48	c.11 others(59): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(41): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 NA18747.hp2 HG01192.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0184 a0002c0002t0003g0294 a0002c0002t0003g0184 a0002c0002t0003g0294	2	324	0.0062	48	c.11 others(59): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(41): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03516.hp2 NA18948.hp2 others(1): Show HG02451.hp2 HG03516.hp2 NA18948.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0228 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0241	4	324	0.0124	48	c.92 others(57): Show c.929_*930insTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(41): Show GAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	324	0.0031	48	c.92 others(57): Show c.929_*930insTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCT TCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848556	A A	AGAAGAAG others(41): Show AGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	324	0.0031	48	c.92 others(57): Show c.928_*929insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTC TTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		690		chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02615.hp1 HG03486.hp2 others(3): Show HG01516.hp2 HG02615.hp1 HG03486.hp2 HG03654.hp2 HG03942.hp1 NA21309.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0012 a0008c0038 a0001c0001 a0006c0012 a0008c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0006c0012t0015 a0008c0038t0012	a0001c0001t0002g0163 a0001c0001t0003g0244 a0001c0001t0005g0186 others(3): Show a0001c0001t0002g0163 a0001c0001t0003g0244 a0001c0001t0005g0186 a0001c0001t0011g0004 a0006c0012t0015g0073 a0008c0038t0012g0305	6	312	0.0192	48	c.19 others(59): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT ATATATATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SEMA3E_chr7_83358238_83654139	83390206	C C	CATATATG others(41): Show CATATATGCGCGTATACGTGTGCACATATATGCGCGTATATATGCGCGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0226 a0001c0001t0097g0226	1	226	0.0044	48	c.166 others(67): Show c.1667+2348_1667+2349insACGCGCATATATACGCGCATATATGT GCACACGTATACGCGCATATAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0073 a0001c0011t0073	a0001c0011t0073g0119 a0001c0011t0073g0119	1	134	0.0075	48	c.207 others(69): Show c.2073+19480_2073+19481insGTGTGTGTGTGTATATATATATAT ATATATATATATATATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353060	G G	GAAGGAAA others(41): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	134	0.0075	48	c.125 others(67): Show c.125-15249_125-15248insTCCTTTCCTTTCCTTTCCTTCCTTCC TTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19057.hp1 NA18962.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0245 a0001c0001t0007g0247 a0001c0001t0007g0245 a0001c0001t0007g0247	2	394	0.0051	48	c.553 others(65): Show c.553-3542_553-3541insGTGTGTATATATATATATATATATATAT ATATATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SEPTIN11_chr4_76944752_77043615	77016633	C C	CACATATA others(41): Show CACATATATATATATACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0245 a0001c0001t0008g0245	1	370	0.0027	48	c.687 others(65): Show c.687+1617_687+1618insCATATATATATATACACACACACACATA TATATATATATATATATATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN11_chr4_76944752_77043615	77016633	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	370	0.0027	48	c.687 others(65): Show c.687+1639_687+1640insTATATATATATACACATATATATATATA TATATATATATATATATATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN8_chr5_132745819_132782239	132769924	T T	TATGTGCC others(41): Show TATGTGCCAAAGTCTCCACAGTTCAAGCAACCCAAAAAATCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	326	0.0031	48	c.31- others(63): Show c.31-4396_31-4395insTAGAGAGAGATTTTTTGGGTTGCTTGAACT GTGGAGACTTTGGCACAT	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SEPTIN8_chr5_132745819_132782239	132770109	G G	GTATATAT others(41): Show GTATATATATATATATATGTATATATGTATATATATATGTATATATGTA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0256	1	326	0.0031	48	c.31- others(63): Show c.31-4581_31-4580insTACATATATACATATATATATACATATATA CATATATATATATATATA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SERPINA5_chr14_94576426_94598118	94591554	A A	ATTCTATT others(41): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19058.hp2 NA18954.hp1 NA19058.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0226 a0003c0002t0004g0246 a0003c0002t0004g0226 a0003c0002t0004g0246	2	464	0.0043	48	c.103 others(65): Show c.1039-501_1039-454dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591559	A A	ATTCTATT others(41): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0268 a0003c0002t0004g0268	1	464	0.0022	48	c.103 others(65): Show c.1039-496_1039-449dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591564	A A	ATTCTATT others(41): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03704.hp2 NA19002.hp1 others(3): Show HG03471.hp1 HG03704.hp2 NA19002.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0018 a0003c0002t0004 a0003c0002t0018	a0003c0002t0004g0022 a0003c0002t0004g0206 a0003c0002t0004g0223 others(1): Show a0003c0002t0004g0022 a0003c0002t0004g0206 a0003c0002t0004g0223 a0003c0002t0018g0127	6	464	0.0129	48	c.103 others(65): Show c.1039-491_1039-444dupTCTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591569	A A	ATTCTATT others(41): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0193 a0003c0002t0004g0193	1	464	0.0022	48	c.103 others(65): Show c.1039-444_1039-443insATTCTTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINF2_chr17_1737871_1760265	1739359	G G	GGAGCCTG others(41): Show GGAGCCTGATGCAGGAGGAGTGAGGCGCGGGACAGTGAGGGTGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	445	0.0023	48	c.-35 others(59): Show c.-3554_-3553insGAGCCTGATGCAGGAGGAGTGAGGCGCGGGACAG TGAGGGTGGGAGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3511		chr17	TogoVar
SERTM1_chr13_36669020_36702839	36678692	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	438	0.0023	48	c.-17 others(67): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATATATATAAATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(41): Show GGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	240	0.0042	48	c.240 others(65): Show c.2407+655_2407+656insGGAAGGGAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31562983	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0004 a0011c0010t0001g0004	1	322	0.0031	48	c.765 others(65): Show c.765+1610_765+1611insATATATATATATATATATATATATATAT ATATATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928641	T T	TATACATA others(41): Show TATACATATATATACATATATACATATATATACATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	328	0.0031	48	c.898 others(63): Show c.898-301_898-300insGTATATATGTATATATGTATATATATGTAT ATATGTATATATATGTAT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(41): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	328	0.0031	48	c.124 others(65): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	318	0.0031	48	c.240 others(67): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	318	0.0031	48	c.240 others(67): Show c.2409-2670_2409-2669insTTATATATATATATATATATATATAT ATATATATATATATATATATAT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783821	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	318	0.0031	48	c.240 others(67): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATATATATAAA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGCE_chr7_94579980_94661133	94658984	T T	TGTTTTGG others(41): Show TGTTTTGGTGGATACAAAATTGGTGCTGTTGGTTTGGCCTCTGAGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	390	0.0026	48	c.-28 others(59): Show c.-2887_-2886insCTCACTCAGAGGCCAAACCAACAGCACCAATTTT GTATCCACCAAAAC	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding		2852		chr7	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0029 a0001c0001t0023g0029	1	102	0.0098	48	c.40- others(65): Show c.40-90553_40-90552insTATATATATATATAAATATATATATATA TATATATATATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15232682	T T	TATATATG others(41): Show TATATATGTGTGTGTATATATATACATATATATGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp2 HG01258.hp2 others(2): Show HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01975.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0032 others(1): Show a0001c0001t0003 a0001c0001t0025 a0001c0001t0032 a0001c0001t0046	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0025g0022 others(2): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0025g0022 a0001c0001t0032g0018 a0001c0001t0046g0019	5	102	0.0490	48	c.39+ others(63): Show c.39+4902_39+4903insGTATATATATACACACATATATATGTATAT ATATACACACACATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGF29_chr16_28548920_28596790	28564558	T T	TATATACG others(41): Show TATATACGTATATATATATACGTATATATATATACGTATATATATACAC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	346	0.0029	48	c.-16 others(67): Show c.-16+10466_-16+10467insCGTATATATATATACGTATATATATA TACGTATATATATACACATATA	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAGGAAAGAAAGAAGGAAAGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	302	0.0033	48	c.75- others(63): Show c.75-2165_75-2164insAGAAAGAAAGAAGGAAAGAAAGAAGGAAAG AAGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(41): Show AAAGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0056 a0001c0001t0007g0056	1	302	0.0033	48	c.75- others(63): Show c.75-2165_75-2164insAGAAAGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGO2_chr2_200521207_200589096	200578150	C C	CTATAGAT others(41): Show CTATAGATATAGATATAGATATAGATATAGATATAGATATAGATATAGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03704.hp2 HG04199.hp2 others(3): Show HG01934.hp1 HG03704.hp2 HG04199.hp2 NA18939.hp2 NA19009.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0040 a0001c0002t0001g0267 a0001c0002t0001g0275 others(2): Show a0001c0002t0001g0040 a0001c0002t0001g0267 a0001c0002t0001g0275 a0001c0004t0001g0078 a0001c0004t0001g0090	6	384	0.0156	48	c.378 others(67): Show c.3782+2723_3782+2724insGATATAGATATAGATATAGATATAGA TATAGATATAGATATAGATATA	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGPP2_chr2_222419543_222567621	222435028	G G	GTATATAT others(41): Show GTATATATATGTGTATATATACACATATATATATGTGTATATATACACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18946.hp2 HG02647.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0034 a0001c0001t0001 a0001c0002t0034	a0001c0001t0001g0063 a0001c0002t0034g0062 a0001c0001t0001g0063 a0001c0002t0034g0062	2	272	0.0074	48	c.219 others(67): Show c.219+10227_219+10228insCACATATATATATGTGTATATATACA CATATATATATGTGTATATATA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM1_chr22_24801211_24932578	24900385	T T	TTCTTTCT others(41): Show TTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02615.hp2 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0001 a0001c0006t0001 a0001c0007t0001	a0001c0006t0001g0069 a0001c0007t0001g0338 a0001c0006t0001g0069 a0001c0007t0001g0338	2	338	0.0059	48	c.261 others(67): Show c.2611-1441_2611-1440insCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTCTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 NA18942.hp1 others(7): Show HG00621.hp2 HG00673.hp1 NA18942.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA19009.hp1 NA19065.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0010 a0001c0001t0001g0223 a0001c0001t0001g0226 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0003t0001g0225 a0002c0002t0001g0224 a0002c0002t0003g0222	10	422	0.0237	48	c.57+ others(63): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATGTA others(41): Show AATATGTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	422	0.0024	48	c.57+ others(63): Show c.57+1033_57+1034insGTATATATATATATATATATATATATATAT ATATATATATATATATAT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356082	G G	GGGGAAGG others(41): Show GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGTGTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0001 a0017c0035t0001	a0017c0035t0001g0301 a0017c0035t0001g0301	1	422	0.0024	48	c.134 others(65): Show c.134-5552_134-5551insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGTGTTGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356132	G G	GGGGAAGG others(41): Show GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGTGTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	422	0.0024	48	c.134 others(65): Show c.134-5502_134-5501insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGTGTTGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356480	G G	GGGGAAGG others(41): Show GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02965.hp2 others(1): Show HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03540.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0001c0005 a0025c0047 a0001c0001 a0001c0005 a0025c0047	a0001c0001t0001 a0001c0005t0002 a0025c0047t0001 a0001c0001t0001 a0001c0005t0002 a0025c0047t0001	a0001c0001t0001g0023 a0001c0001t0001g0070 a0001c0005t0002g0084 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0070 a0001c0005t0002g0084 a0025c0047t0001g0282	4	422	0.0095	48	c.134 others(65): Show c.134-5154_134-5153insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAAA others(41): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0102 a0003c0004t0004g0102	1	424	0.0024	48	c.-44 others(59): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282328	A A	AGGGACTG others(41): Show AGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01496.hp2 HG01934.hp1 others(21): Show HG01106.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp2 HG02300.hp2 HG02523.hp2 HG04184.hp1 NA18940.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18997.hp1 NA19068.hp1 NA19083.hp2 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	24	422	0.0569	48	c.12 others(59): Show c.1205_*1206insGGGACTGGGGCCGGGACCGGGACCGGGACTGGGG CCGGGACCGGGACC	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		807		chr1	TogoVar
SH3GL3_chr15_83442341_83623743	83460068	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCTTCCTTCCTTGCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG02559.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0171 a0001c0001t0001g0190	2	324	0.0062	48	c.45+ others(65): Show c.45+12514_45+12515insGCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTT	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3KBP1_chrX_19528977_19892600	19553930	T T	TATATAAT others(41): Show TATATAATATATAATATATATTAAAATATAATATATAATATATATTAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19007.hp1 HG04115.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0160 a0001c0001t0001g0077 a0001c0001t0001g0160	2	204	0.0098	48	c.138 others(67): Show c.1385-3895_1385-3848dupTTTAATATATATTATATATTATATTT TAATATATATTATATATTATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368596	T T	TTATATAT others(41): Show TTATATATATATAATATATATGTTATATATATATAATATATATGTTATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp1 HG01891.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0015 a0001c0001t0026g0040 a0001c0001t0026g0015 a0001c0001t0026g0040	2	280	0.0071	48	c.427 others(65): Show c.427+5193_427+5194insTATAACATATATATTATATATATATAAC ATATATATTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109249583	C C	CCTTCCTT others(41): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0056 a0001c0003t0036g0056	1	172	0.0058	48	c.574 others(67): Show c.574-98088_574-98087insCCTTCCTTCCTTCCTTCCTTCCTTCT TTTCTTTCTTTCTTTCTTTCTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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