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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPOCK3_chr4_166728384_167239494	167116909	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	124	0.0081	24	c.190 others(43): Show c.190-54373_190-54372insTATATATATATATATATATATATA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON1_chr11_13957723_14273133	13996711	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	197	0.0051	24	c.345 others(43): Show c.345+13759_345+13760insGTATATATATATATATATATATAT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160909	A A	ATATATTT others(17): Show ATATATTTATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01109.hp1 others(1): Show HG00323.hp2 HG00642.hp2 HG01109.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0001c0001t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0002g0131 a0001c0001t0004g0183 a0001c0001t0004g0203 others(1): Show a0001c0001t0002g0131 a0001c0001t0004g0183 a0001c0001t0004g0203 a0001c0003t0002g0078	4	218	0.0183	24	c.825 others(43): Show c.825+25346_825+25347insTTATATATTTATATATATTTATAT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02280.hp2 HG00642.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0042 a0001c0004t0001g0081 a0001c0001t0001g0042 a0001c0004t0001g0081	2	68	0.0294	24	c.69 others(35): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAA		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding					4539		chr11	TogoVar
SPOPL_chr2_138496770_138578547	138567372	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	17	0.0588	24	c.103 others(43): Show c.1035-1525_1035-1502dupGTGTGTGTGTGTGTGTGTGTGTGT		SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPOP_chr17_49593884_49683097	49618356	T T	TTAACTGA others(17): Show TTAACTGAGTATATACTGATTAGTC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	388	0.0026	24	c.480 others(39): Show c.480+624_480+625insGACTAATCAGTATATACTCAGTTA		SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	5/9						chr17	TogoVar
SPOP_chr17_49593884_49683097	49665649	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	27	0.0370	24	c.-67 others(43): Show c.-67+12260_-67+12283dupGTGTGTGTGTGTGTGTGTGTGTGT		SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	1/9						chr17	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0229 a0001c0001t0033g0229	1	202	0.0050	24	c.44 others(35): Show c.4443_*4444insAAAAAAAATATATATATATATATA		SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15				4443		chr15	TogoVar
SPPL2B_chr19_2323684_2360095	2359758	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA21309.hp2 NA19030.hp1 NA21309.hp2	a0002 a0002	a0002c0007 a0002c0029 a0002c0007 a0002c0029	a0002c0007t0003 a0002c0029t0026 a0002c0007t0003 a0002c0029t0026	a0002c0007t0003g0169 a0002c0029t0026g0056 a0002c0007t0003g0169 a0002c0029t0026g0056	2	93	0.0215	24	c.65 others(35): Show c.6549_*6550insACACACACACACACACACACACAC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding					4664		chr19	TogoVar
SPPL3_chr12_120757510_120909358	120802396	T T	TACATATA others(17): Show TACATATATATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	318	0.0031	24	c.101 others(41): Show c.101+8412_101+8413insGTATATATATATACATATATATGT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	2/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02451.hp2 HG03486.hp1 others(3): Show HG02027.hp1 HG02451.hp2 HG03486.hp1 HG03927.hp2 NA18959.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0068 a0001c0001t0002g0221 a0001c0001t0003g0309 others(3): Show a0001c0001t0001g0068 a0001c0001t0002g0221 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0319 a0001c0001t0008g0067	6	37	0.1622	24	c.24- others(41): Show c.24-19718_24-19695dupTCTCTCTCTCTCTCTCTCTCTCTC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02572.hp2 HG00741.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0315 a0001c0001t0004g0183 a0001c0001t0003g0315 a0001c0001t0004g0183	2	94	0.0213	24	c.23+ others(41): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTTTTT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPRED1_chr15_38247836_38362249	38310153	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03942.hp1 NA19009.hp1 others(2): Show HG02257.hp1 HG03942.hp1 NA19009.hp1 NA19054.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018	a0001c0001t0002g0237 a0001c0001t0004g0327 a0001c0001t0005g0184 others(2): Show a0001c0001t0002g0237 a0001c0001t0004g0327 a0001c0001t0005g0184 a0001c0001t0005g0196 a0001c0001t0018g0314	5	24	0.2083	24	c.207 others(43): Show c.207+10607_207+10608insGTGTGTGTGTGTGTGTGTGTGTTT		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65322294	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	142	0.0070	24	c.439 others(41): Show c.439-5412_439-5411insAAAAAAAAAAAAAATATATATATA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5						chr2	TogoVar
SPRED3_chr19_38383697_38404587	38385765	A A	AGCCGGGG others(17): Show AGCCGGGGATGGGGCCGGGGCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(80): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01346.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0002t0007 a0001c0002t0023 a0001c0002t0024	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0016 others(38): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0038 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0005g0010 a0001c0001t0005g0053 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0081 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0009g0031 a0001c0001t0009g0075 a0001c0001t0012g0044 a0001c0001t0012g0072 a0001c0001t0013g0032 a0001c0001t0018g0005 a0001c0001t0019g0004 a0001c0001t0021g0095 a0001c0001t0027g0073 a0001c0001t0028g0074 a0001c0002t0007g0033 a0001c0002t0007g0063 a0001c0002t0007g0064 a0001c0002t0023g0077 a0001c0002t0024g0033	83	354	0.2345	24	c.-30 others(35): Show c.-3047_-3046insGCCGGGGATGGGGCCGGGGCCGGG		SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding					2931		chr19	TogoVar
SPRED3_chr19_38383697_38404587	38397903	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG02258.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0031 a0001c0001t0008g0032	2	252	0.0079	24	c.17 others(35): Show c.1773_*1774insAAAAAAAAAAAAAAAAAAAAAAAA		SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	6/6				1774	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRR1A_chr1_152979081_152990814	152979857	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	259	0.0039	24	c.-42 others(35): Show c.-4288_-4287insCTCTCTCTCTCTCTCTCTCACACA		SPRR1A	ENSG00000169474.5	transcript	ENST00000368762.2	protein_coding					4223		chr1	TogoVar
SPRR1A_chr1_152979081_152990814	152979857	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG01884.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	260	0.0077	24	c.-42 others(35): Show c.-4288_-4287insCTCTCTCTCTCTCTCTCTCTCACA		SPRR1A	ENSG00000169474.5	transcript	ENST00000368762.2	protein_coding					4223		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(17): Show GTCTCTCTCCCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp2 HG03041.hp2 others(3): Show HG02886.hp1 HG02896.hp2 HG03041.hp2 HG03471.hp1 NA19030.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0022 others(3): Show a0001c0001t0007 a0001c0001t0018 a0001c0001t0022 a0001c0001t0043 a0001c0001t0045 a0001c0001t0081	a0001c0001t0007g0113 a0001c0001t0018g0106 a0001c0001t0022g0110 others(3): Show a0001c0001t0007g0113 a0001c0001t0018g0106 a0001c0001t0022g0110 a0001c0001t0043g0111 a0001c0001t0045g0114 a0001c0001t0081g0112	6	205	0.0293	24	c.-28 others(43): Show c.-282+3461_-282+3462insCCTCTCTCTCTCTCTCTCTCTCTC		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(17): Show GTCTCTCTCCCTCTCTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0095 a0001c0001t0016g0095	1	200	0.0050	24	c.-28 others(43): Show c.-282+3461_-282+3462insCCTCTCTCTTTCTCTCTCTCTCTC		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155659104	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0023 a0001c0001t0110g0023	1	53	0.0189	24	c.-28 others(45): Show c.-282+46488_-282+46511dupCTTTCTTTCTTTCTTTCTTTCTTT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155680145	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0029 a0001c0001t0096g0029	1	99	0.0101	24	c.-28 others(45): Show c.-282+67521_-282+67544dupGTGTGTGTGTGTGTGTGTGTGTGT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRYD4_chr12_56463578_56484708	56464852	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0079 a0001c0002t0079	a0001c0002t0079g0001 a0001c0002t0079g0001	1	315	0.0032	24	c.-37 others(35): Show c.-3740_-3739insTTTTTTTTTTTTTTTTTTTTTTTT		SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding					3725		chr12	TogoVar
SPSB1_chr1_9287894_9374532	9296594	A A	ACACACAT others(17): Show ACACACATACACAAACGTGTGCATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp1 others(141): Show HG00280.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18974.hp1 NA18980.hp1 NA18988.hp1 NA18990.hp2 NA19009.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0019 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0003t0013 a0001c0003t0016 a0001c0003t0018 a0001c0004t0003	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 others(140): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0247 a0001c0001t0003g0012 a0001c0001t0003g0058 a0001c0001t0003g0099 a0001c0001t0003g0127 a0001c0001t0003g0131 a0001c0001t0003g0155 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0004g0242 a0001c0001t0004g0248 a0001c0001t0005g0045 a0001c0001t0005g0107 a0001c0001t0005g0141 a0001c0001t0005g0148 a0001c0001t0005g0359 a0001c0001t0006g0054 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0110 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0160 a0001c0001t0006g0163 a0001c0001t0006g0168 a0001c0001t0007g0166 a0001c0001t0011g0151 a0001c0001t0015g0014 a0001c0001t0015g0025 a0001c0001t0015g0154 a0001c0001t0015g0162 a0001c0001t0017g0137 a0001c0001t0017g0150 a0001c0001t0017g0207 a0001c0001t0021g0152 a0001c0001t0023g0044 a0001c0001t0024g0135 a0001c0001t0024g0149 a0001c0001t0027g0165 a0001c0001t0028g0192 a0001c0001t0029g0035 a0001c0001t0030g0136 a0001c0001t0034g0140 a0001c0001t0038g0200 a0001c0002t0001g0016 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0064 a0001c0002t0001g0112 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0002t0001g0196 a0001c0002t0002g0249 a0001c0002t0005g0038 a0001c0002t0005g0246 a0001c0002t0007g0008 a0001c0002t0007g0013 a0001c0002t0007g0023 a0001c0002t0007g0026 a0001c0002t0007g0037 a0001c0002t0007g0106 a0001c0002t0007g0119 a0001c0002t0007g0164 a0001c0002t0007g0172 a0001c0002t0007g0173 a0001c0002t0007g0174 a0001c0002t0007g0179 a0001c0002t0007g0190 a0001c0002t0008g0244 a0001c0002t0011g0138 a0001c0002t0016g0142 a0001c0002t0019g0015 a0001c0002t0019g0098 a0001c0003t0002g0243 a0001c0003t0003g0001 a0001c0003t0003g0006 a0001c0003t0003g0009 a0001c0003t0003g0051 a0001c0003t0003g0060 a0001c0003t0003g0066 a0001c0003t0003g0105 a0001c0003t0003g0117 a0001c0003t0003g0156 a0001c0003t0003g0184 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0004g0239 a0001c0003t0007g0005 a0001c0003t0007g0061 a0001c0003t0012g0007 a0001c0003t0012g0020 a0001c0003t0012g0021 a0001c0003t0013g0114 a0001c0003t0013g0132 a0001c0003t0013g0133 a0001c0003t0013g0134 a0001c0003t0016g0113 a0001c0003t0016g0146 a0001c0003t0018g0017 a0001c0003t0018g0122 a0001c0003t0018g0123 a0001c0004t0003g0062	144	367	0.3924	24	c.-15 others(43): Show c.-150+3533_-150+3534insCAAACGTGTGCATGCACACATACA		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01934.hp2 NA19084.hp2 HG01257.hp1 HG01934.hp2 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0010 a0001c0001t0002 a0003c0005t0010	a0001c0001t0002g0012 a0001c0001t0002g0038 a0003c0005t0010g0099 a0001c0001t0002g0012 a0001c0001t0002g0038 a0003c0005t0010g0099	3	165	0.0182	24	c.258 others(43): Show c.2587+1668_2587+1691dupAAAAAAAAAAAAAAAAAAAAAAAA		SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51						chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128562992	G G	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0019	1	296	0.0034	24	c.-3- others(39): Show c.-3-3743_-3-3742insGTATATATATATATATATATATAT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0277 a0002c0004t0002g0277	1	202	0.0050	24	c.363 others(41): Show c.363+1434_363+1435insATATATATATATATATTTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0283 a0002c0004t0002g0283	1	202	0.0050	24	c.363 others(41): Show c.363+1434_363+1435insATATATATATATATTTTTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0023 a0001c0001t0020g0023	1	2	0.5000	24	c.-48 others(43): Show c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522651	A A	AGAGAGAG others(17): Show AGAGAGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0257 a0001c0003t0003g0257	1	368	0.0027	24	c.-47 others(41): Show c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGAGAGA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522678	G G	GAGAGGAG others(17): Show GAGAGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0001 a0004c0034t0001	a0004c0034t0001g0002 a0004c0034t0001g0002	1	256	0.0039	24	c.-47 others(41): Show c.-47-3694_-47-3693insAGAGGAGAGAGAGAGAGAGAGAGA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35						chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAAA others(17): Show GAGAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0263 a0001c0013t0015g0263	1	136	0.0074	24	c.-47 others(41): Show c.-47-3672_-47-3671insGAAAGAGAAAGAAAGAAAGAAAGA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(52): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01257.hp1 HG02080.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp1 HG02486.hp1 HG02698.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03491.hp2 HG03704.hp1 HG06807.hp2 NA18612.hp1 NA18951.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19002.hp1 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0029 a0008c0028	a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0002t0029 a0001c0002t0046 a0001c0003t0003 a0001c0007t0001 a0001c0029t0007 a0008c0028t0001	a0001c0001t0002g0122 a0001c0001t0004g0093 a0001c0001t0029g0100 others(52): Show a0001c0001t0002g0122 a0001c0001t0004g0093 a0001c0001t0029g0100 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0077 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0180 a0001c0002t0001g0231 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0291 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0331 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0359 a0001c0002t0005g0121 a0001c0002t0006g0089 a0001c0002t0006g0114 a0001c0002t0006g0290 a0001c0002t0006g0293 a0001c0002t0006g0332 a0001c0002t0006g0333 a0001c0002t0006g0334 a0001c0002t0028g0295 a0001c0002t0028g0296 a0001c0002t0029g0339 a0001c0002t0046g0330 a0001c0003t0003g0008 a0001c0003t0003g0251 a0001c0003t0003g0366 a0001c0007t0001g0081 a0001c0007t0001g0120 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0311 a0001c0029t0007g0283 a0008c0028t0001g0006	55	190	0.2895	24	c.-47 others(41): Show c.-47-3672_-47-3671insGAGAGAGAGAAAGAGAAAGAAAGA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0287 a0001c0009t0002g0287	1	129	0.0078	24	c.149 others(43): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0038 a0001c0005t0011g0038	1	92	0.0109	24	c.149 others(41): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40505700	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0031 a0003c0006t0001g0031	1	77	0.0130	24	c.166 others(41): Show c.1666-505_1666-482dupGAAGGAAGGAAGGAAGGAAGGAAG		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	12/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40516023	G G	GTATATAT others(17): Show GTATATATACACATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02602.hp1 HG04204.hp1 others(1): Show HG01516.hp1 HG02602.hp1 HG04204.hp1 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0007 a0006c0039 a0001c0001 a0004c0007 a0006c0039	a0001c0001t0001 a0004c0007t0001 a0006c0039t0001 a0001c0001t0001 a0004c0007t0001 a0006c0039t0001	a0001c0001t0001g0063 a0004c0007t0001g0173 a0004c0007t0001g0188 others(1): Show a0001c0001t0001g0063 a0004c0007t0001g0173 a0004c0007t0001g0188 a0006c0039t0001g0119	4	232	0.0172	24	c.290 others(41): Show c.2903+588_2903+611dupTATATATGTATATATATATACACA		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	15/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64744771	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0105 a0002c0003t0005g0105	1	163	0.0061	24	c.45 others(35): Show c.4534_*4535insAAAAAAAAAAAAAAAAAAAAAAAA		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding					1511		chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534588	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01255.hp1 HG01515.hp1 others(12): Show HG00621.hp1 HG01255.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02083.hp2 HG02970.hp2 HG02976.hp2 HG03239.hp2 HG03516.hp2 HG03654.hp2 HG04199.hp2 NA18950.hp2 NA18986.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0025 a0001c0001t0048	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0039 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0009g0174 a0001c0001t0025g0019 a0001c0001t0048g0234	15	33	0.4545	24	c.130 others(45): Show c.1304-13008_1304-13007insGTGTGTGTGTGTGTGTGTGTGTGT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591730	G G	GTATGTAT others(17): Show GTATGTATGTATGTATGTATTTATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp2 HG03239.hp1 others(2): Show HG01884.hp1 HG02895.hp2 HG03239.hp1 HG03834.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0044	a0001c0001t0001g0024 a0001c0001t0001g0164 a0001c0001t0003g0121 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0164 a0001c0001t0003g0121 a0001c0001t0004g0029 a0001c0001t0044g0047	5	57	0.0877	24	c.327 others(41): Show c.327+5455_327+5456insAATAAATACATACATACATACATA		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11						chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04115.hp2 NA21309.hp1 HG03490.hp1 HG04115.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0004 a0001c0001t0001g0156 a0001c0001t0001g0181	3	166	0.0181	24	c.113 others(41): Show c.113-8226_113-8203dupACACACACACACACACACACACAC		SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1						chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03831.hp1 NA18943.hp2 others(4): Show HG00280.hp1 HG03831.hp1 NA18943.hp2 NA18969.hp2 NA19060.hp1 NA19072.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0051 a0002c0003t0001g0066 a0002c0003t0001g0067 others(4): Show a0002c0003t0001g0051 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0069 a0002c0003t0001g0075 a0002c0003t0001g0089 a0002c0003t0001g0096	7	206	0.0340	24	c.61- others(39): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5						chr11	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03579.hp1 HG03834.hp2 others(1): Show HG01884.hp2 HG03579.hp1 HG03834.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0031 a0001c0002t0003g0077 a0001c0003t0001g0014 others(1): Show a0001c0002t0003g0031 a0001c0002t0003g0077 a0001c0003t0001g0014 a0001c0003t0001g0027	4	197	0.0203	24	c.38 others(35): Show c.3888_*3889insACACACACACACACACACACACAC		SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding					3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00673.hp1 others(20): Show HG00099.hp1 HG00609.hp2 HG00673.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp1 HG01256.hp1 HG01975.hp2 HG01978.hp1 HG02258.hp2 HG02523.hp1 HG02647.hp1 HG02738.hp2 HG02922.hp1 HG03579.hp1 HG04228.hp2 NA18945.hp1 NA18977.hp1 NA18993.hp2 NA19001.hp2 NA19012.hp2 NA19066.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0001c0001t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0058 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0167 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0251 a0002c0002t0001g0083 a0002c0002t0001g0087 a0002c0002t0001g0194 a0003c0005t0001g0163	23	80	0.2875	24	c.-92 others(33): Show c.-928_-927insTATATATATATATATATATATATA		SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding					830		chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179843059	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	406	0.0025	24	c.64 others(35): Show c.6466_*6467insAGGAAGGAAGGAAGGAAGGGAGGG		SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding					4982		chr5	TogoVar
SRBD1_chr2_45383680_45616267	45414462	T T	TAGTGTGT others(17): Show TAGTGTGTATATAGTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	351	0.0028	24	c.233 others(43): Show c.2334-1193_2334-1170dupGTACACACACACTATATACACACT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02976.hp2 HG01069.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0230 a0002c0002t0001g0015 a0002c0002t0001g0230	2	120	0.0167	24	c.187 others(43): Show c.1874+1425_1874+1448dupTTTTTTTTTTTTTTTTTTTTTTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA20752.hp2 NA18989.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0287 a0003c0003t0001g0297 a0003c0003t0001g0287 a0003c0003t0001g0297	2	117	0.0171	24	c.130 others(43): Show c.1305+1666_1305+1689dupTTTTTTTTTTTTTTTTTTTTTTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20						chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01167.hp2 others(18): Show HG00558.hp1 HG00639.hp1 HG01167.hp2 HG01257.hp2 HG01258.hp2 HG02056.hp1 HG02572.hp1 HG02698.hp2 HG02818.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03492.hp2 HG03579.hp1 NA18949.hp1 NA18963.hp1 NA18971.hp1 NA19067.hp1 NA19081.hp2 NA19084.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004 a0003c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0002t0035 a0001c0008t0043 a0002c0004t0005 a0002c0004t0022 a0002c0004t0023 a0003c0010t0019	a0001c0001t0001g0137 a0001c0002t0001g0134 a0001c0002t0002g0016 others(18): Show a0001c0001t0001g0137 a0001c0002t0001g0134 a0001c0002t0002g0016 a0001c0002t0002g0055 a0001c0002t0002g0120 a0001c0002t0002g0136 a0001c0002t0002g0140 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0003g0121 a0001c0002t0003g0135 a0001c0002t0003g0145 a0001c0002t0003g0212 a0001c0002t0017g0157 a0001c0002t0035g0187 a0001c0008t0043g0155 a0002c0004t0005g0153 a0002c0004t0005g0161 a0002c0004t0022g0152 a0002c0004t0023g0118 a0003c0010t0019g0240	21	36	0.5833	24	c.345 others(41): Show c.345+1321_345+1344dupGGAAGGAAGGAAGGAAGGAAGGAA		SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18						chr17	TogoVar
SREBF2_chr22_41828105_41912305	41866925	T T	TAGCAGCA others(17): Show TAGCAGCAGCGGCAGCAGTGGCAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 HG02615.hp2 HG02809.hp1 HG02109.hp1 HG02615.hp2 HG02809.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0114 a0006c0008t0003g0115 a0006c0008t0003g0116 a0006c0008t0003g0114 a0006c0008t0003g0115 a0006c0008t0003g0116	3	334	0.0090	24	c.193 others(31): Show c.193_216dupGGCAGCAGTGGCAGCAGCAGCAGC	p.Gly others(11): Show p.Gly65_Ser72dup	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	2/19	383/5237	217/3426	73/1141		INFO_REALIGN_3_PRIME	chr22	TogoVar

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