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
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCAC others(25): Show GCGCGCACGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	15	0.0667	32	c.644 others(49): Show c.644-2134_644-2133insGCGCACGCGCGCGCACACACACACACAC ACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCGC others(25): Show GCGCGCGCACGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	15	0.0667	32	c.644 others(49): Show c.644-2134_644-2133insGCGCGCACGCGCACACACACACACACAC ACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX2_chr5_122770080_122839543	122806142	G G	GCGCGCGC others(25): Show GCGCGCGCGCGCACACGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0206 a0001c0002t0024g0206	1	15	0.0667	32	c.644 others(49): Show c.644-2134_644-2133insGCGCGCGCGCACACGCACACACACACAC ACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX30_chr9_112745760_112879987	112817401	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0159 a0001c0002t0049g0159	1	8	0.1250	32	c.349 others(47): Show c.349-274_349-273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX30_chr9_112745760_112879987	112865661	A A	ATATGTGT others(25): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0016 a0002c0003t0004g0016	1	76	0.0132	32	c.125 others(51): Show c.1254+1263_1254+1264insATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX31_chr8_100567889_100654665	100635222	T T	TTTTATTT others(25): Show TTTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01346.hp1 others(7): Show HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01943.hp2 HG01975.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 NA18989.hp1	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0008	a0003c0003 a0005c0005 a0007c0007 others(1): Show a0003c0003 a0005c0005 a0007c0007 a0008c0008	a0003c0003t0004 a0005c0005t0004 a0007c0007t0004 others(1): Show a0003c0003t0004 a0005c0005t0004 a0007c0007t0004 a0008c0008t0004	a0003c0003t0004g0006 a0003c0003t0004g0134 a0003c0003t0004g0149 others(6): Show a0003c0003t0004g0006 a0003c0003t0004g0134 a0003c0003t0004g0149 a0005c0005t0004g0153 a0007c0007t0004g0154 a0008c0008t0004g0127 a0008c0008t0004g0132 a0008c0008t0004g0133 a0008c0008t0004g0155	10	249	0.0402	32	c.256 others(47): Show c.256+674_256+675insTAAATAAATAAATAAATAAATAAATAAATA AA	SNX31	ENSG00000174226.9	transcript	ENST00000311812.7	protein_coding	3/13			chr8	TogoVar
SNX32_chr11_65828963_65858701	65839223	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	285	0.0035	32	c.36+ others(47): Show c.36+5123_36+5124insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
SNX4_chr3_125441650_125525202	125495250	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18951.hp1 HG03704.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0128 a0001c0001t0001g0038 a0001c0001t0001g0128	2	248	0.0081	32	c.597 others(49): Show c.597+2090_597+2091insTATATATATATATATATATATATATATA TATA	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX4_chr3_125441650_125525202	125495277	T T	TATATATA others(25): Show TATATATATATATATATATATATATACATACAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19065.hp1 NA18943.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0284 a0001c0001t0002g0287	2	209	0.0096	32	c.597 others(49): Show c.597+2063_597+2064insGTGTATGTATATATATATATATATATAT ATAT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX4_chr3_125441650_125525202	125495277	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18999.hp1 HG03942.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0187 a0001c0001t0002g0212 a0001c0001t0001g0187 a0001c0001t0002g0212	2	209	0.0096	32	c.597 others(49): Show c.597+2063_597+2064insGTGTATATATATATATATATATATATAT ATAT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX4_chr3_125441650_125525202	125495277	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	208	0.0048	32	c.597 others(49): Show c.597+2063_597+2064insGTATATATATATATATATATATATATAT ATAT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	312	0.0032	32	c.33 others(43): Show c.3310_*3311insATATATATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03669.hp1 HG02630.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0270 a0001c0001t0001g0274	2	235	0.0085	32	c.33 others(43): Show c.3312_*3313insAAATATATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX9_chr6_157818246_157950077	157914469	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	82	0.0122	32	c.949 others(49): Show c.949+4467_949+4468insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179313506	C C	CTGTGTAT others(25): Show CTGTGTATATATGTGTATATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02293.hp2 NA18983.hp2 HG01978.hp1 HG02293.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0002 a0001c0001t0004 a0002c0003t0002	a0001c0001t0004g0263 a0001c0001t0004g0271 a0002c0003t0002g0272 a0001c0001t0004g0263 a0001c0001t0004g0271 a0002c0003t0002g0272	3	380	0.0079	32	c.119 others(49): Show c.119-9887_119-9856dupGTGTATATATATATGTATATGTGTGTAT ATAT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20752.hp2 HG02258.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0147 a0001c0001t0003g0123 a0001c0001t0002g0147 a0001c0001t0003g0123	2	48	0.0417	32	c.-90 others(49): Show c.-90-1143_-90-1142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS7_chr17_38346844_38410593	38389865	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATGTACATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0171 a0001c0001t0017g0171	1	254	0.0039	32	c.168 others(51): Show c.1682-5442_1682-5441insTATATATATATATATATATATATGTA CATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389871	A A	ATATATGT others(25): Show ATATATGTACATATATATATATGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	288	0.0035	32	c.168 others(51): Show c.1682-5433_1682-5432insGTACATATATATATATGTGTATGTGT GTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389894	T T	TATATATG others(25): Show TATATATGTACATATATATATATATATATGTAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	286	0.0035	32	c.168 others(51): Show c.1682-5410_1682-5409insTGTACATATATATATATATATATGTA CATATA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOGA1_chr20_36772447_36868538	36826326	T T	TCCCCCCT others(25): Show TCCCCCCTCCCTCCCCCTCCCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 HG02622.hp2 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0012 a0002c0004t0009 a0002c0004t0012	a0002c0004t0009g0047 a0002c0004t0012g0093 a0002c0004t0009g0047 a0002c0004t0012g0093	2	267	0.0075	32	c.107 others(51): Show c.1071+2727_1071+2728insGAGGGGGAGGGGGGGAGGGGGAGGGA GGGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36826326	T T	TCCCCCCT others(25): Show TCCCCCCTCCCTCCCCCTCCCCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0134 a0002c0004t0010g0134	1	266	0.0038	32	c.107 others(51): Show c.1071+2727_1071+2728insGAGGGGGGAGGGGGGAGGGGGAGGGA GGGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03239.hp2 HG01192.hp1 HG03239.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0004c0012t0001 a0001c0001t0001 a0004c0012t0001	a0001c0001t0001g0190 a0004c0012t0001g0316 a0001c0001t0001g0190 a0004c0012t0001g0316	2	54	0.0370	32	c.641 others(49): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95347441	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0131 a0001c0029t0002g0131	1	80	0.0125	32	c.238 others(49): Show c.2383-990_2383-989insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185588592	T T	TTCCTCCT others(25): Show TTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(69): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01515.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02818.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19057.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0001c0018 a0001c0037 a0006c0035 a0010c0039	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0001t0075 a0001c0002t0002 a0001c0010t0029 a0001c0018t0002 a0001c0037t0030 a0006c0035t0002 a0010c0039t0003	a0001c0001t0002g0014 a0001c0001t0002g0047 a0001c0001t0002g0053 others(69): Show a0001c0001t0002g0014 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0167 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0241 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0269 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0003g0187 a0001c0001t0003g0280 a0001c0001t0009g0050 a0001c0001t0009g0196 a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0009g0233 a0001c0001t0009g0243 a0001c0001t0009g0262 a0001c0001t0009g0267 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0013g0145 a0001c0001t0013g0146 a0001c0001t0013g0155 a0001c0001t0013g0173 a0001c0001t0013g0236 a0001c0001t0015g0080 a0001c0001t0015g0208 a0001c0001t0015g0225 a0001c0001t0015g0246 a0001c0001t0015g0253 a0001c0001t0017g0102 a0001c0001t0023g0119 a0001c0001t0024g0251 a0001c0001t0024g0275 a0001c0001t0029g0254 a0001c0001t0047g0177 a0001c0001t0052g0266 a0001c0001t0053g0274 a0001c0001t0054g0112 a0001c0001t0055g0052 a0001c0001t0061g0179 a0001c0001t0065g0181 a0001c0001t0066g0103 a0001c0001t0075g0076 a0001c0002t0002g0131 a0001c0010t0029g0043 a0001c0018t0002g0237 a0001c0037t0030g0088 a0006c0035t0002g0025 a0010c0039t0003g0312	72	310	0.2323	32	c.384 others(49): Show c.3842-905_3842-904insGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	26/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03486.hp2 HG02922.hp2 HG03139.hp1 HG03486.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0036 a0001c0001 a0008c0036	a0001c0001t0021 a0001c0001t0036 a0008c0036t0070 a0001c0001t0021 a0001c0001t0036 a0008c0036t0070	a0001c0001t0021g0060 a0001c0001t0036g0003 a0008c0036t0070g0218 a0001c0001t0021g0060 a0001c0001t0036g0003 a0008c0036t0070g0218	3	199	0.0151	32	c.-96 others(51): Show c.-96-17037_-96-17036insCTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106878646	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	108	0.0093	32	c.627 others(51): Show c.627-48974_627-48973insAATATATATATATATATATATATATA TATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107065415	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01258.hp1 HG01891.hp1 HG00639.hp2 HG01258.hp1 HG01891.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0008 a0001c0001 a0001c0005 a0003c0008	a0001c0001t0002 a0001c0005t0001 a0003c0008t0005 a0001c0001t0002 a0001c0005t0001 a0003c0008t0005	a0001c0001t0002g0023 a0001c0005t0001g0062 a0003c0008t0005g0092 a0001c0001t0002g0023 a0001c0005t0001g0062 a0003c0008t0005g0092	3	12	0.2500	32	c.558 others(51): Show c.558+98522_558+98553dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0034 a0003c0012t0034	a0003c0012t0034g0010 a0003c0012t0034g0010	1	31	0.0323	32	c.481 others(51): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0033 a0005c0022t0033	a0005c0022t0033g0153 a0005c0022t0033g0153	1	31	0.0323	32	c.481 others(51): Show c.481-22809_481-22808insATATATATATATATATATATATATAT TTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0046 a0003c0012t0046	a0003c0012t0046g0033 a0003c0012t0046g0033	1	31	0.0323	32	c.481 others(51): Show c.481-22809_481-22808insATATATATATATATATATATATATTT TTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448854	C C	CCCTTCCT others(25): Show CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0121 a0001c0002t0008g0121	1	98	0.0102	32	c.548 others(51): Show c.548+52502_548+52503insTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449253	C C	CCCTCCCT others(25): Show CCCTCCCTTCCTCCCTCCCTCCCTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0102 a0001c0005t0005g0102	1	157	0.0064	32	c.548 others(51): Show c.548+52905_548+52906insTCCTCCCTCCCTCCCTCCCTCTCTTC CTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7543879	C C	CCCAGCCA others(25): Show CCCAGCCACCCACCCACCCACCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0114 a0002c0004t0022g0114	1	112	0.0089	32	c.648 others(51): Show c.648+12253_648+12254insGCCACCCACCCACCCACCCATCCATC CATCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104818360	T T	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19012.hp2 HG02738.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0103 a0001c0001t0001g0113 a0001c0001t0002g0103	2	17	0.1176	32	c.628 others(51): Show c.628-24419_628-24388dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03098.hp2 HG03516.hp1 others(1): Show HG02738.hp1 HG03098.hp2 HG03516.hp1 NA19012.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0007 a0003c0027 others(1): Show a0001c0002 a0002c0007 a0003c0027 a0003c0071	a0001c0002t0001 a0002c0007t0017 a0003c0027t0005 others(1): Show a0001c0002t0001 a0002c0007t0017 a0003c0027t0005 a0003c0071t0014	a0001c0002t0001g0139 a0002c0007t0017g0122 a0003c0027t0005g0173 others(1): Show a0001c0002t0001g0139 a0002c0007t0017g0122 a0003c0027t0005g0173 a0003c0071t0014g0146	4	14	0.2857	32	c.205 others(51): Show c.2051+2016_2051+2017insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS2_chr14_50112130_50236578	50209274	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	34	0.0294	32	c.88- others(47): Show c.88-4897_88-4866dupACACACACACACACACACACACACACACAC AC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02717.hp2 HG00642.hp2 HG02717.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	2	329	0.0061	32	c.-58 others(41): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX5_chr12_23524504_23954670	23530798	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0212 a0001c0002t0050g0212	1	78	0.0128	32	c.34 others(43): Show c.3420_*3421insACACACACACACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3420		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0123 a0001c0001t0116g0123	1	153	0.0065	32	c.34 others(43): Show c.3400_*3401insGCGCGCGCGCGCACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0079 a0001c0001t0095g0079	1	153	0.0065	32	c.34 others(43): Show c.3400_*3401insGCGCGCGCGCACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0107 a0001c0001t0120g0107	1	12	0.0833	32	c.116 others(51): Show c.1165-2311_1165-2280dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16283089	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	11	0.0909	32	c.445 others(51): Show c.445+35356_445+35357insTATATATATATATATATATATATATA TATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02735.hp2 NA18941.hp1 others(5): Show HG02071.hp2 HG02735.hp2 NA18941.hp1 NA18947.hp2 NA18979.hp1 NA18991.hp2 NA19005.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 a0001c0002t0028	a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 others(5): Show a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0005g0106 a0001c0001t0013g0175 a0001c0001t0023g0110 a0001c0002t0028g0108	8	130	0.0615	32	c.-5+ others(47): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTTCCTTCCTCCCTCC CT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0095 a0001c0001t0008g0095	1	123	0.0081	32	c.-5+ others(47): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0054 a0001c0001t0016g0054	1	118	0.0085	32	c.-5+ others(47): Show c.-5+6378_-5+6379insCTTCCTTCCTTCTTCCTTCCTTCCTTCCTT CC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19240.hp1 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0050 a0001c0001t0020g0055 a0001c0001t0002g0050 a0001c0001t0020g0055	2	119	0.0168	32	c.-5+ others(47): Show c.-5+6378_-5+6379insCTTCCTTCTTCCTTCCTTCCTTCCTTCCTT CC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX8_chr16_976770_991979	991388	T T	TGTGGAGG others(25): Show TGTGGAGGGGACTTGGACAGGTGGTTCTCAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0002 a0001c0003t0046g0002	1	429	0.0023	32	c.60 others(43): Show c.6002_*6003insGTGGAGGGGACTTGGACAGGTGGTTCTCAGAC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4410		chr16	TogoVar
SOX8_chr16_976770_991979	991420	C C	CGTGGAGG others(25): Show CGTGGAGGGGACTTGGGCAGGTGGTTCTCAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0001 a0002c0012t0001g0001	1	432	0.0023	32	c.60 others(43): Show c.6034_*6035insGTGGAGGGGACTTGGGCAGGTGGTTCTCAGAA	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4442		chr16	TogoVar
SP7_chr12_53321575_53341354	53333851	G G	GGACTCCC others(25): Show GGACTCCCCTTAGACTCCCCCCCCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0104 a0003c0007t0001g0104	1	368	0.0027	32	c.21+ others(47): Show c.21+1774_21+1775insGGGAGGGTTGGGGGGGGAGTCTAAGGGGAG TC	SP7	ENSG00000170374.6	transcript	ENST00000536324.4	protein_coding	2/2			chr12	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG04228.hp2 HG02129.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0136 a0001c0001t0001g0002 a0001c0001t0001g0136	2	7	0.2857	32	c.24 others(43): Show c.2410_*2411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar

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