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
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	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	187	0.0053	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	82	0.0122	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	126	0.0079	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	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0234 a0001c0001t0006g0236	2	159	0.0126	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	222	0.0045	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	222	0.0045	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	a0001c0001t0001g0078 a0001c0001t0001g0078	1	324	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	a0001c0002t0002g0216 a0001c0002t0002g0216	1	232	0.0043	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	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0223 a0002c0002t0004g0243 a0002c0002t0004g0223 a0002c0002t0004g0243	2	455	0.0044	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	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0265 a0002c0002t0004g0265	1	443	0.0023	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	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0018 a0002c0002t0004 a0002c0002t0018	a0002c0002t0004g0019 a0002c0002t0004g0220 a0002c0002t0018g0127 a0002c0002t0004g0019 a0002c0002t0004g0220 a0002c0002t0018g0127	6	452	0.0133	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	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0191 a0002c0002t0004g0191	1	462	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	a0001c0001t0003g0014 a0001c0001t0003g0014	1	430	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	a0001c0001t0003g0098 a0001c0001t0003g0098	1	436	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	a0001c0001t0007g0027 a0001c0001t0007g0027	1	144	0.0069	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	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0004 a0010c0010t0001g0004	1	156	0.0064	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	309	0.0032	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	118	0.0085	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	33	0.0303	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	33	0.0303	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	312	0.0032	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	a0001c0001t0001g0050 a0001c0001t0001g0050	1	388	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	76	0.0132	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	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0025g0021 others(2): Show a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0025g0021 a0001c0001t0032g0016 a0001c0001t0046g0017	5	90	0.0556	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	a0001c0001t0002g0095 a0001c0001t0002g0095	1	344	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	20	0.0500	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	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	20	0.0500	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	a0001c0002t0001g0043 a0001c0002t0001g0274 a0001c0002t0001g0282 others(2): Show a0001c0002t0001g0043 a0001c0002t0001g0274 a0001c0002t0001g0282 a0001c0004t0001g0053 a0001c0004t0001g0080	6	82	0.0732	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	a0001c0001t0002 a0001c0002t0010 a0001c0001t0002 a0001c0002t0010	a0001c0001t0002g0079 a0001c0002t0010g0078 a0001c0001t0002g0079 a0001c0002t0010g0078	2	81	0.0247	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	a0001c0006t0001g0068 a0001c0007t0001g0338 a0001c0006t0001g0068 a0001c0007t0001g0338	2	328	0.0061	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	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 others(7): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0003t0001g0223 a0002c0002t0001g0222 a0002c0002t0003g0218	10	175	0.0571	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	a0001c0001t0003g0252 a0001c0001t0003g0252	1	166	0.0060	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	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0001 a0018c0035t0001	a0018c0035t0001g0298 a0018c0035t0001g0298	1	419	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	a0001c0001t0001g0118 a0001c0001t0001g0118	1	420	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 a0019 a0001 a0019	a0001c0001 a0001c0005 a0019c0047 a0001c0001 a0001c0005 a0019c0047	a0001c0001t0001 a0001c0005t0002 a0019c0047t0001 a0001c0001t0001 a0001c0005t0002 a0019c0047t0001	a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0005t0002g0082 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0005t0002g0082 a0019c0047t0001g0279	4	420	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	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0034 a0003c0003t0004g0034	1	95	0.0105	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	316	0.0759	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	130	0.0154	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	a0001c0001t0001g0099 a0001c0001t0001g0161 a0001c0001t0001g0099 a0001c0001t0001g0161	2	102	0.0196	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	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0015 a0001c0001t0028g0040 a0001c0001t0028g0015 a0001c0001t0028g0040	2	269	0.0074	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	38	0.0263	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
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(41): Show TGGGCTGCTCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	278	0.0036	48	c.43 others(59): Show c.4386_*4387insGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGAGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(41): Show TGGGCTGCTCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18953.hp2 NA18971.hp1 others(3): Show HG00438.hp2 NA18953.hp2 NA18971.hp1 NA18984.hp1 NA19007.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0119 a0001c0001t0001g0157 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0119 a0001c0001t0001g0157 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193	6	283	0.0212	48	c.43 others(59): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGAGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(41): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG06807.hp1 NA19043.hp2 HG01884.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0008t0001g0203 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0008t0001g0203	3	291	0.0103	48	c.43 others(59): Show c.4353_*4354insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214481	C C	CCTGCCAA others(41): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 NA19003.hp2 HG01167.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0188 a0001c0001t0001g0118 a0001c0001t0001g0188	2	325	0.0062	48	c.43 others(59): Show c.4329_*4330insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3662		chr2	TogoVar
SH3YL1_chr2_213144_269032	214481	C C	CCTGCGAA others(41): Show CCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	324	0.0031	48	c.43 others(59): Show c.4329_*4330insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTCGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3662		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCCAA others(41): Show CCTGCCAACAGGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA19030.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0217 a0001c0002t0002g0218	2	299	0.0067	48	c.43 others(59): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCCAA others(41): Show CCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG04204.hp1 HG00642.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0124 a0001c0002t0002g0261 a0001c0001t0004g0124 a0001c0002t0002g0261	2	299	0.0067	48	c.43 others(59): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCGAA others(41): Show CCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA18995.hp1 HG01255.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0169 a0001c0001t0001g0190	2	299	0.0067	48	c.43 others(59): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTCGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SH3YL1_chr2_213144_269032	214510	C C	CAACAGGC others(41): Show CAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01346.hp1 others(17): Show HG00673.hp1 HG01074.hp1 HG01346.hp1 HG01515.hp1 HG01952.hp1 HG01981.hp1 HG02040.hp1 HG02071.hp1 HG02165.hp2 HG02523.hp1 HG03834.hp1 HG03834.hp2 NA18940.hp1 NA18955.hp2 NA18963.hp2 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0059	20	227	0.0881	48	c.43 others(59): Show c.4300_*4301insCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCA GCCCGGTGCCTGTT	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3633		chr2	TogoVar

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