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
SORCS2_chr4_7187538_7747827	7448850	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01346.hp2 others(3): Show HG00099.hp2 HG01106.hp1 HG01346.hp2 HG01934.hp1 HG01952.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0033 others(1): Show a0001c0001 a0001c0003 a0001c0033 a0001c0047	a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0003t0011 a0001c0033t0009 a0001c0047t0071	a0001c0001t0003g0053 a0001c0001t0009g0085 a0001c0001t0012g0137 others(3): Show a0001c0001t0003g0053 a0001c0001t0009g0085 a0001c0001t0012g0137 a0001c0003t0011g0080 a0001c0033t0009g0093 a0001c0047t0071g0051	6	168	0.0357	20	c.548 others(39): Show c.548+52502_548+52503insTCCTCCCTCCCTTCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449051	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	168	0.0060	20	c.548 others(39): Show c.548+52728_548+52747dupCCCTCCCTTCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7507177	A A	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02109.hp1 others(7): Show HG01167.hp1 HG01891.hp1 HG02109.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02976.hp2 HG03225.hp2 HG03540.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0011	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0015 a0003c0012 a0004c0007 a0004c0044 a0009c0035 a0011c0031	a0001c0001t0072 a0001c0002t0004 a0001c0005t0007 others(7): Show a0001c0001t0072 a0001c0002t0004 a0001c0005t0007 a0001c0009t0051 a0001c0015t0011 a0003c0012t0036 a0004c0007t0001 a0004c0044t0046 a0009c0035t0028 a0011c0031t0030	a0001c0001t0072g0161 a0001c0002t0004g0018 a0001c0005t0007g0065 others(7): Show a0001c0001t0072g0161 a0001c0002t0004g0018 a0001c0005t0007g0065 a0001c0009t0051g0042 a0001c0015t0011g0002 a0003c0012t0036g0010 a0004c0007t0001g0126 a0004c0044t0046g0016 a0009c0035t0028g0152 a0011c0031t0030g0149	10	168	0.0595	20	c.549 others(39): Show c.549-24339_549-24338insATTTATTTATTTATTTATTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7538587	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0074 a0001c0028t0074	a0001c0028t0074g0162 a0001c0028t0074g0162	1	168	0.0060	20	c.648 others(37): Show c.648+6963_648+6982dupCACACACACACACACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7540161	T T	TCTCCCTG others(13): Show TCTCCCTGCCCCTCCCTGCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 HG02622.hp1 HG02976.hp1	a0001 a0006 a0001 a0006	a0001c0009 a0006c0045 a0001c0009 a0006c0045	a0001c0009t0029 a0006c0045t0001 a0001c0009t0029 a0006c0045t0001	a0001c0009t0029g0038 a0006c0045t0001g0148 a0001c0009t0029g0038 a0006c0045t0001g0148	2	168	0.0119	20	c.648 others(37): Show c.648+8565_648+8584dupCCCTGCCCCTCCCTGCCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7540168	G G	GCCCCTCC others(13): Show GCCCCTCCCTGCCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0042 a0001c0005t0042	a0001c0005t0042g0157 a0001c0005t0042g0157	1	168	0.0060	20	c.648 others(37): Show c.648+8558_648+8559insTCCCCTCCCTGCCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7543939	C C	CCCATCCA others(13): Show CCCATCCATCCACCCATCCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03540.hp2 NA19030.hp1 HG02257.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0009 a0001c0048 a0001c0053 a0001c0009 a0001c0048 a0001c0053	a0001c0009t0051 a0001c0048t0001 a0001c0053t0001 a0001c0009t0051 a0001c0048t0001 a0001c0053t0001	a0001c0009t0051g0042 a0001c0048t0001g0146 a0001c0053t0001g0044 a0001c0009t0051g0042 a0001c0048t0001g0146 a0001c0053t0001g0044	3	168	0.0179	20	c.648 others(39): Show c.648+12321_648+12322insCCCATCCATCCATCCATCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7544019	T T	TCCATCCA others(13): Show TCCATCCATCCAGCCACCCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02280.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0041 a0001c0003 a0001c0041	a0001c0003t0022 a0001c0041t0013 a0001c0003t0022 a0001c0041t0013	a0001c0003t0022g0043 a0001c0041t0013g0031 a0001c0003t0022g0043 a0001c0041t0013g0031	2	168	0.0119	20	c.648 others(39): Show c.648+12422_648+12441dupGCCACCCACCCATCCATCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695320	G G	GTGGGTGG others(13): Show GTGGGTGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0028 a0009c0035t0028	a0009c0035t0028g0152 a0009c0035t0028g0152	1	168	0.0060	20	c.159 others(39): Show c.1592-1875_1592-1874insGTGGATGGATGGATGGATGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695320	G G	GTGGGTGG others(13): Show GTGGGTGGGTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG01884.hp2 others(14): Show HG01109.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02970.hp2 HG03209.hp2 NA18522.hp2 NA19043.hp2 NA20300.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0008 a0014	a0001c0002 a0001c0003 a0001c0005 others(12): Show a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0001c0016 a0001c0032 a0001c0037 a0001c0041 a0003c0034 a0003c0042 a0004c0044 a0005c0021 a0005c0022 a0008c0056 a0014c0055	a0001c0002t0004 a0001c0003t0015 a0001c0005t0004 others(13): Show a0001c0002t0004 a0001c0003t0015 a0001c0005t0004 a0001c0005t0042 a0001c0015t0011 a0001c0016t0013 a0001c0032t0075 a0001c0037t0020 a0001c0041t0013 a0003c0034t0007 a0003c0042t0003 a0004c0044t0046 a0005c0021t0070 a0005c0022t0039 a0008c0056t0021 a0014c0055t0048	a0001c0002t0004g0018 a0001c0003t0015g0034 a0001c0005t0004g0101 others(14): Show a0001c0002t0004g0018 a0001c0003t0015g0034 a0001c0005t0004g0101 a0001c0005t0042g0157 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0016t0013g0039 a0001c0032t0075g0160 a0001c0037t0020g0017 a0001c0041t0013g0031 a0003c0034t0007g0075 a0003c0042t0003g0066 a0004c0044t0046g0016 a0005c0021t0070g0103 a0005c0022t0039g0153 a0008c0056t0021g0061 a0014c0055t0048g0150	17	168	0.1012	20	c.159 others(39): Show c.1592-1875_1592-1874insGTGGGTGGATGGATGGATGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18943.hp2 HG04204.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0107 a0001c0001t0010g0127 a0001c0001t0004g0107 a0001c0001t0010g0127	2	134	0.0149	20	c.627 others(39): Show c.627+29379_627+29398dupTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696353	T T	TATACACA others(13): Show TATACACATATAATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01891.hp2 HG02965.hp1 others(1): Show HG01433.hp2 HG01891.hp2 HG02965.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0013 a0001c0001 a0001c0002 a0002c0013	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0002c0013t0002	a0001c0001t0002g0011 a0001c0002t0001g0075 a0001c0002t0006g0071 others(1): Show a0001c0001t0002g0011 a0001c0002t0001g0075 a0001c0002t0006g0071 a0002c0013t0002g0131	4	134	0.0299	20	c.627 others(39): Show c.627+54402_627+54403insCACATATAATATATATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	134	0.0075	20	c.627 others(39): Show c.627+93504_627+93523dupTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104751924	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	134	0.0075	20	c.628 others(39): Show c.628-90842_628-90823dupTATATATATATATATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104794622	G G	GGAGGGAG others(13): Show GGAGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	134	0.0075	20	c.628 others(39): Show c.628-48167_628-48166insGGAGAGAGAGAGAGAGAGAG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104818360	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01515.hp1 others(4): Show HG01106.hp2 HG01123.hp1 HG01515.hp1 HG02809.hp2 HG02895.hp2 HG03688.hp2 NA19003.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0004c0008t0001	a0001c0001t0001g0049 a0001c0001t0001g0106 a0001c0001t0002g0095 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0106 a0001c0001t0002g0095 a0001c0001t0002g0115 a0001c0002t0002g0108 a0001c0002t0003g0004 a0004c0008t0001g0005	7	134	0.0522	20	c.628 others(39): Show c.628-24407_628-24388dupCTTCCTTCCTTCCTTCCTTC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	134	0.0075	20	c.795 others(39): Show c.795+24307_795+24308insATATATATATATATATATTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104945236	C C	CTGTTTTG others(13): Show CTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0070 a0001c0002t0003g0070	1	134	0.0075	20	c.795 others(39): Show c.795+29316_795+29335dupGTTTTGTTTTGTTTTGTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104957554	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp1 HG03225.hp2 HG02965.hp2 HG02976.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003	a0001c0002t0001g0051 a0001c0002t0002g0053 a0001c0003t0003g0054 a0001c0002t0001g0051 a0001c0002t0002g0053 a0001c0003t0003g0054	3	134	0.0224	20	c.796 others(39): Show c.796-19774_796-19755dupACACACACACACACACACAC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105003998	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	134	0.0075	20	c.954 others(39): Show c.954+26506_954+26507insTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105125676	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	134	0.0075	20	c.121 others(41): Show c.1213-13720_1213-13719insCACACACACACACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105125679	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp2 HG02280.hp1 others(3): Show HG01358.hp1 HG01884.hp2 HG02280.hp1 HG02280.hp2 HG02717.hp2 HG02809.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0004c0008	a0001c0001t0004 a0001c0002t0007 a0001c0005t0001 others(2): Show a0001c0001t0004 a0001c0002t0007 a0001c0005t0001 a0002c0004t0001 a0004c0008t0001	a0001c0001t0004g0125 a0001c0002t0007g0078 a0001c0005t0001g0007 others(3): Show a0001c0001t0004g0125 a0001c0002t0007g0078 a0001c0005t0001g0007 a0002c0004t0001g0002 a0004c0008t0001g0005 a0004c0008t0001g0126	6	134	0.0448	20	c.121 others(41): Show c.1213-13707_1213-13688dupCACACACACACACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45038132	C C	CTTCCTTC others(13): Show CTTCCTTCTTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18967.hp1 NA18951.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0013 a0002c0002t0004g0014	2	308	0.0065	20	c.67- others(35): Show c.67-2269_67-2268insTTTCCTTCCTTCTTTCCTTC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(17): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01175.hp1 HG01433.hp1 HG02148.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 NA18974.hp2 NA19001.hp2 NA19066.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005 a0002c0050 a0004c0017 a0008c0024 a0015c0051 a0016c0034	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0006t0001 a0002c0005t0001 a0002c0050t0002 a0004c0017t0002 a0008c0024t0002 a0015c0051t0001 a0016c0034t0001	a0001c0001t0002g0004 a0001c0002t0001g0116 a0001c0002t0006g0114 others(17): Show a0001c0001t0002g0004 a0001c0002t0001g0116 a0001c0002t0006g0114 a0001c0003t0001g0019 a0001c0003t0001g0113 a0001c0003t0002g0101 a0001c0003t0002g0117 a0001c0003t0002g0133 a0001c0003t0002g0225 a0001c0004t0001g0236 a0001c0004t0001g0238 a0001c0006t0001g0118 a0002c0005t0001g0202 a0002c0005t0001g0205 a0002c0050t0002g0201 a0004c0017t0002g0241 a0008c0024t0002g0033 a0008c0024t0002g0034 a0015c0051t0001g0074 a0016c0034t0001g0158	20	272	0.0735	20	c.168 others(39): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0003 a0002c0052t0003	a0002c0052t0003g0162 a0002c0052t0003g0162	1	272	0.0037	20	c.205 others(39): Show c.2051+1997_2051+2016dupAAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	38986980	A A	AAATTAAT others(13): Show AAATTAATTAAGTAGAAAATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02145.hp1 others(4): Show HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02723.hp2 HG02886.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0005 a0001c0001t0004g0041 a0001c0001t0004g0042 others(4): Show a0001c0001t0004g0005 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0017g0044	7	246	0.0285	20	c.351 others(37): Show c.3510+492_3510+493insAATTTTCTACTTAATTAATT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	22/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0046 a0001c0001t0024g0046	1	246	0.0041	20	c.865 others(37): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39045273	A A	AGAGAGAG others(13): Show AGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	246	0.0041	20	c.864 others(37): Show c.864+5870_864+5871insACACACACACACACTCTCTC	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39045273	A A	AGAGAGTG others(13): Show AGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	246	0.0041	20	c.864 others(37): Show c.864+5870_864+5871insACACACACACACACACTCTC	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39110026	T T	TTGTGTGT others(13): Show TTGTGTGTGTGCGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	246	0.0041	20	c.87+ others(37): Show c.87+10309_87+10310insCACACACACGCACACACACA	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50135089	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0354 a0001c0005t0001g0354	1	382	0.0026	20	c.295 others(37): Show c.2959-870_2959-851dupCTTTCTTTCTTTCTTTCTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	18/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50209274	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG02040.hp2 others(6): Show HG01109.hp1 HG01361.hp1 HG02040.hp2 HG02055.hp2 HG03017.hp2 NA18975.hp2 NA19011.hp2 NA19066.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0006c0009t0001	a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0133 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0284 a0001c0002t0001g0278 a0001c0003t0001g0136 a0006c0009t0001g0255	9	382	0.0236	20	c.88- others(35): Show c.88-4885_88-4866dupACACACACACACACACACAC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOWAHC_chr2_109609364_109623990	109621914	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01256.hp1 HG02630.hp1 others(3): Show HG01167.hp2 HG01256.hp1 HG02630.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0006 a0001c0001 a0002c0004 a0002c0006	a0001c0001t0001 a0002c0004t0008 a0002c0006t0008 others(1): Show a0001c0001t0001 a0002c0004t0008 a0002c0006t0008 a0002c0006t0020	a0001c0001t0001g0000 a0002c0004t0008g0000 a0002c0006t0008g0000 others(1): Show a0001c0001t0001g0000 a0002c0004t0008g0000 a0002c0006t0008g0000 a0002c0006t0020g0000	6	432	0.0139	20	c.58 others(31): Show c.5847_*5848insAAATAAATAAATAAATAAAT	SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding		2925		chr2	TogoVar
SOX11_chr2_5687384_5706385	5688834	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01516.hp1 HG02155.hp1 others(5): Show HG01069.hp2 HG01516.hp1 HG02155.hp1 HG03209.hp1 HG03704.hp2 NA18522.hp1 NA18944.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 a0001c0001t0053 a0001c0001t0054 a0001c0001t0095 a0001c0001t0099 a0001c0001t0151	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0036g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0036g0000 a0001c0001t0053g0000 a0001c0001t0054g0000 a0001c0001t0095g0000 a0001c0001t0099g0000 a0001c0001t0151g0000	8	434	0.0184	20	c.-38 others(31): Show c.-3888_-3887insTGTGTGTGTGTGTGTGTGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		3549		chr2	TogoVar
SOX18_chr20_64042582_64054639	64042771	G G	GGGGGTCG others(13): Show GGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02717.hp2 others(6): Show HG02451.hp1 HG02622.hp1 HG02717.hp2 HG02976.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0003t0001g0010 a0001c0001t0001g0003 a0001c0003t0001g0010	9	352	0.0256	20	c.53 others(31): Show c.5394_*5395insGCCCCGTCCCCCACGACCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4810		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042803	G G	GGACGGGG others(13): Show GGACGGGGCGGGGTCGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03471.hp1 NA18906.hp2 HG02895.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	352	0.0085	20	c.53 others(31): Show c.5362_*5363insTCCCACGACCCCGCCCCGTC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4778		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042833	G G	GGGGGTCG others(13): Show GGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	352	0.0028	20	c.53 others(31): Show c.5332_*5333insGCCCCGTCCCCCACGACCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4748		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042873	G G	GCGGGGTC others(13): Show GCGGGGTCGTGGGGGACGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01255.hp1 others(1): Show HG01106.hp1 HG01243.hp1 HG01255.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0004 a0001c0001t0001g0005 a0001c0001t0002g0004	4	352	0.0114	20	c.52 others(31): Show c.5292_*5293insTCCCGTCCCCCACGACCCCG	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4708		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042894	G G	GCGGGGTC others(13): Show GCGGGGTCGTGGGGGACGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	352	0.0028	20	c.52 others(31): Show c.5271_*5272insTCCCGTCCCCCACGACCCCG	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4687		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042917	G G	GGAGGTCG others(13): Show GGAGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	352	0.0028	20	c.52 others(31): Show c.5248_*5249insGCCCCGTCCCCCACGACCTC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4664		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042917	G G	GGGGGTCG others(13): Show GGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02572.hp2 HG02809.hp2 others(1): Show HG00733.hp2 HG02572.hp2 HG02809.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003	4	352	0.0114	20	c.52 others(31): Show c.5248_*5249insGCCCCGTCCCCCACGACCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4664		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042958	G G	GGGGGTCG others(13): Show GGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03453.hp2 NA19240.hp1 others(1): Show HG02976.hp2 HG03453.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	4	352	0.0114	20	c.52 others(31): Show c.5207_*5208insGCCCCGTCCCCCACGACCCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4623		chr20	TogoVar
SOX2_chr3_181706925_181719436	181711764	G G	GCCCCCTC others(13): Show GCCCCCTCCTCCCCCGGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	412	0.0024	20	c.-59 others(29): Show c.-597_-596insCCCCCTCCTCCCCCGGCCTC	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		160		chr3	TogoVar
SOX30_chr5_157620679_157657438	157636537	G G	GTATTCTA others(13): Show GTATTCTACATAAAACAAAAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	394	0.0025	20	c.188 others(39): Show c.1880+1692_1880+1693insTTTTTGTTTTATGTAGAATA	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23530798	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01169.hp2 others(17): Show HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01928.hp2 HG02258.hp2 HG02273.hp1 HG02976.hp2 HG03139.hp1 HG03471.hp1 HG03710.hp2 NA18973.hp1 NA18973.hp2 NA19003.hp2 NA19063.hp2 NA19077.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0015 a0001c0001t0023 others(10): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0023 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0061 a0001c0001t0065 a0001c0001t0072 a0001c0001t0103 a0001c0001t0108 a0001c0001t0122 a0001c0002t0048	a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0067 others(17): Show a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0067 a0001c0001t0008g0076 a0001c0001t0008g0205 a0001c0001t0015g0091 a0001c0001t0015g0102 a0001c0001t0015g0174 a0001c0001t0023g0026 a0001c0001t0023g0049 a0001c0001t0042g0077 a0001c0001t0043g0149 a0001c0001t0045g0103 a0001c0001t0061g0136 a0001c0001t0065g0033 a0001c0001t0072g0058 a0001c0001t0103g0064 a0001c0001t0108g0050 a0001c0001t0122g0069 a0001c0002t0048g0113	20	212	0.0943	20	c.34 others(31): Show c.3401_*3420dupACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3420		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0084 a0001c0001t0083 a0001c0001t0084	a0001c0001t0083g0090 a0001c0001t0084g0207 a0001c0001t0083g0090 a0001c0001t0084g0207	2	212	0.0094	20	c.34 others(31): Show c.3400_*3401insGCACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03942.hp1 HG02257.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0049 a0001c0001t0002 a0001c0001t0049	a0001c0001t0002g0006 a0001c0001t0049g0021 a0001c0001t0002g0006 a0001c0001t0049g0021	2	212	0.0094	20	c.116 others(39): Show c.1165-2299_1165-2280dupTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23600522	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01496.hp2 HG02109.hp1 others(3): Show HG00597.hp2 HG01496.hp2 HG02109.hp1 HG02132.hp1 HG03195.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0034 others(3): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0034 a0001c0001t0086 a0001c0001t0105 a0001c0001t0108	a0001c0001t0007g0023 a0001c0001t0011g0131 a0001c0001t0034g0015 others(3): Show a0001c0001t0007g0023 a0001c0001t0011g0131 a0001c0001t0034g0015 a0001c0001t0086g0024 a0001c0001t0105g0063 a0001c0001t0108g0050	6	212	0.0283	20	c.116 others(39): Show c.1164+3845_1164+3864dupATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704715	T T	TATATATA others(13): Show TATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0168 a0001c0001t0038g0168	1	212	0.0047	20	c.810 others(39): Show c.810+29968_810+29969insGTGTGTGTGTATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704715	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0055 a0001c0001t0099g0055	1	212	0.0047	20	c.810 others(39): Show c.810+29968_810+29969insGTATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar

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