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
SOCS7_chr17_38346844_38410593	38390640	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01256.hp2 HG01257.hp1 others(5): Show HG00642.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01952.hp1 HG02145.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0030 a0001c0004t0032 a0001c0002t0002 a0001c0004t0030 a0001c0004t0032	a0001c0002t0002g0001 a0001c0002t0002g0047 a0001c0002t0002g0048 others(4): Show a0001c0002t0002g0001 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0004t0030g0024 a0001c0004t0032g0023	8	78	0.1026	-20	c.168 others(39): Show c.1682-4633_1682-4614delCTTCCTTCCTTCCTTCCTTC	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOGA1_chr20_36772447_36868538	36858461	AAAACACA others(13): Show AAAACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00733.hp2 others(7): Show HG00140.hp1 HG00733.hp1 HG00733.hp2 HG01074.hp1 HG01346.hp2 HG02647.hp2 HG02723.hp2 HG03017.hp1 HG03239.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 others(2): Show a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0006g0003 a0001c0001t0021g0006 a0001c0002t0001g0095 others(7): Show a0001c0001t0006g0003 a0001c0001t0021g0006 a0001c0002t0001g0095 a0001c0002t0003g0012 a0001c0002t0003g0068 a0001c0002t0003g0079 a0001c0002t0003g0087 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0033	10	198	0.0505	-20	c.687 others(37): Show c.687+4177_687+4196delGTGTGTGTGTGTGTGTGTTT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(13): Show TACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01167.hp2 others(12): Show HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG02135.hp1 HG02818.hp1 HG03453.hp1 HG03516.hp1 NA18972.hp2 NA18978.hp1 NA18983.hp2 NA19080.hp1 NA19086.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0013	a0001c0001 a0001c0002 a0001c0033 others(4): Show a0001c0001 a0001c0002 a0001c0033 a0002c0003 a0004c0005 a0007c0008 a0013c0016	a0001c0001t0001 a0001c0002t0001 a0001c0033t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0033t0001 a0002c0003t0001 a0004c0005t0001 a0007c0008t0001 a0013c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0084 a0001c0002t0001g0046 a0001c0033t0001g0030 a0002c0003t0001g0003 a0002c0003t0001g0201 a0004c0005t0001g0102 a0007c0008t0001g0052 a0013c0016t0001g0045	15	73	0.2055	-20	c.11 others(31): Show c.1181_*1200delACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SON_chr21_33538038_33582481	33580463	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02165.hp1 HG02055.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0104 a0001c0001t0001g0004 a0001c0001t0001g0104	2	10	0.2000	-20	c.40 others(31): Show c.4040_*4059delAAAAAAAAAAAAAAAAAAAA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		2983		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185731858	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	299	0.0033	-20	c.-41 others(37): Show c.-41+2221_-41+2240delTATATATATATAGAGAGAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185731860	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0037 a0001c0004t0014g0037	1	289	0.0035	-20	c.-41 others(37): Show c.-41+2219_-41+2238delTATATATATATATAGAGAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185731862	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	280	0.0036	-20	c.-41 others(37): Show c.-41+2217_-41+2236delTATATATATATATATAGAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185731864	CTCTATAT others(13): Show CTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03453.hp2 HG01081.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0002c0012t0005 a0001c0001t0001 a0002c0012t0005	a0001c0001t0001g0104 a0002c0012t0005g0217 a0001c0001t0001g0104 a0002c0012t0005g0217	2	262	0.0076	-20	c.-41 others(37): Show c.-41+2215_-41+2234delTATATATATATATATATAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185731866	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19060.hp2 HG03540.hp2 NA19060.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0032 a0001c0001 a0009c0032	a0001c0001t0003 a0009c0032t0003 a0001c0001t0003 a0009c0032t0003	a0001c0001t0003g0186 a0009c0032t0003g0036 a0001c0001t0003g0186 a0009c0032t0003g0036	2	201	0.0100	-20	c.-41 others(37): Show c.-41+2213_-41+2232delTATATATATATATATATATA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185806434	CTATTTTT others(13): Show CTATTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	5	0.2000	-20	c.-23 others(39): Show c.-237+5210_-237+5229delAAAAAAAAAAAAAAAAAATA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SORBS3_chr8_22546927_22580788	22580471	AAGCCCCT others(13): Show AAGCCCCTGAGTAGCTGCTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	428	0.0023	-20	c.57 others(31): Show c.5744_*5763delAGCCCCTGAGTAGCTGCTCC	SORBS3	ENSG00000120896.14	transcript	ENST00000240123.12	protein_coding		4684		chr8	TogoVar
SORCS1_chr10_106568663_107169706	106926850	CACACACA others(13): Show CACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0062 a0001c0005t0001g0062	1	130	0.0077	-20	c.626 others(39): Show c.626+29643_626+29662delCTCTGTGTGTGTGTGTGTGT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7262375	TATCCATC others(13): Show TATCCATCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02280.hp1 HG02451.hp2 others(12): Show HG02165.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02647.hp1 HG02717.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0014 a0016	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0003c0012 a0003c0046 a0004c0007 a0004c0044 a0005c0020 a0014c0052 a0016c0040	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(12): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0054 a0001c0001t0058 a0001c0002t0001 a0001c0003t0014 a0001c0016t0006 a0003c0012t0046 a0003c0046t0001 a0004c0007t0001 a0004c0044t0041 a0005c0020t0017 a0014c0052t0003 a0016c0040t0003	a0001c0001t0003g0168 a0001c0001t0006g0125 a0001c0001t0013g0099 others(12): Show a0001c0001t0003g0168 a0001c0001t0006g0125 a0001c0001t0013g0099 a0001c0001t0054g0007 a0001c0001t0058g0161 a0001c0002t0001g0087 a0001c0003t0014g0140 a0001c0016t0006g0039 a0003c0012t0046g0033 a0003c0046t0001g0164 a0004c0007t0001g0126 a0004c0044t0041g0016 a0005c0020t0017g0037 a0014c0052t0003g0030 a0016c0040t0003g0024	15	37	0.4054	-20	c.480 others(39): Show c.480+69288_480+69307delCCATCCATCCATCCATCCAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7374109	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01123.hp2 others(22): Show HG00099.hp2 HG00642.hp2 HG01123.hp2 HG01346.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02572.hp1 HG02602.hp1 HG02809.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03710.hp2 HG04115.hp2 NA18522.hp1 NA18962.hp1 NA19000.hp2 NA19066.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0009 a0013 a0018	a0001c0001 a0001c0002 a0001c0009 others(11): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0015 a0001c0037 a0002c0004 a0003c0012 a0003c0042 a0005c0020 a0007c0027 a0009c0024 a0013c0055 a0018c0025	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(22): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0051 a0001c0009t0001 a0001c0014t0001 a0001c0015t0011 a0001c0037t0017 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0003c0012t0034 a0003c0042t0004 a0005c0020t0017 a0007c0027t0002 a0009c0024t0002 a0013c0055t0006 a0018c0025t0019	a0001c0001t0002g0067 a0001c0001t0005g0085 a0001c0001t0010g0129 others(22): Show a0001c0001t0002g0067 a0001c0001t0005g0085 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0048g0094 a0001c0002t0001g0087 a0001c0002t0002g0074 a0001c0002t0007g0076 a0001c0002t0008g0121 a0001c0002t0011g0112 a0001c0002t0051g0004 a0001c0009t0001g0151 a0001c0014t0001g0040 a0001c0015t0011g0015 a0001c0037t0017g0017 a0002c0004t0002g0127 a0002c0004t0004g0046 a0002c0004t0005g0110 a0003c0012t0034g0010 a0003c0042t0004g0066 a0005c0020t0017g0037 a0007c0027t0002g0116 a0009c0024t0002g0108 a0013c0055t0006g0150 a0018c0025t0019g0025	25	168	0.1488	-20	c.481 others(39): Show c.481-22160_481-22141delCCTCTTTCTTTCTTTCTTTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449197	CCCTCCCT others(13): Show CCCTCCCTTCCTCCCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 NA19043.hp2 HG02257.hp1 HG02486.hp2 NA19043.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0005c0022 a0012c0039 a0001c0001 a0005c0022 a0012c0039	a0001c0001t0003 a0005c0022t0033 a0012c0039t0049 a0001c0001t0003 a0005c0022t0033 a0012c0039t0049	a0001c0001t0003g0168 a0005c0022t0033g0153 a0012c0039t0049g0064 a0001c0001t0003g0168 a0005c0022t0033g0153 a0012c0039t0049g0064	3	165	0.0182	-20	c.548 others(39): Show c.548+52850_548+52869delTCCTCCCTCTCTTCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7453718	CTGTGTTG others(13): Show CTGTGTTGGGGTCAGGAGCTG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0094 a0001c0001t0048g0094	1	168	0.0060	-20	c.548 others(39): Show c.548+57399_548+57418delAGCTGTGTGTTGGGGTCAGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7453946	AGCTGTGT others(13): Show AGCTGTGTGTTGGGGTCAGGT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01109.hp2 others(20): Show HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02280.hp2 HG02293.hp1 HG02622.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03225.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04199.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0015 a0001c0041 a0001c0051 a0002c0004 a0003c0046 a0004c0007 a0008c0056	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0011 a0001c0002t0053 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0020 a0001c0005t0016 a0001c0014t0001 a0001c0015t0011 a0001c0041t0006 a0001c0051t0001 a0002c0004t0007 a0002c0004t0009 a0002c0004t0022 a0003c0046t0001 a0004c0007t0001 a0004c0007t0014 a0008c0056t0018	a0001c0001t0002g0130 a0001c0001t0004g0048 a0001c0001t0012g0036 others(20): Show a0001c0001t0002g0130 a0001c0001t0004g0048 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0002t0011g0112 a0001c0002t0053g0115 a0001c0003t0009g0135 a0001c0003t0010g0001 a0001c0003t0014g0140 a0001c0003t0020g0043 a0001c0005t0016g0104 a0001c0014t0001g0040 a0001c0015t0011g0015 a0001c0041t0006g0031 a0001c0051t0001g0068 a0002c0004t0007g0136 a0002c0004t0009g0060 a0002c0004t0022g0057 a0002c0004t0022g0114 a0003c0046t0001g0164 a0004c0007t0001g0126 a0004c0007t0014g0166 a0008c0056t0018g0061	23	168	0.1369	-20	c.548 others(39): Show c.548+57631_548+57650delTGCTGTGTGTTGGGGTCAGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7454180	CTGTGTTG others(13): Show CTGTGTTGGGGTCAGGTGCTG	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02300.hp1 HG02559.hp1 others(3): Show HG01258.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0004 others(1): Show a0001c0001 a0001c0005 a0002c0004 a0003c0012	a0001c0001t0003 a0001c0001t0009 a0001c0005t0008 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0005t0008 a0002c0004t0004 a0003c0012t0034	a0001c0001t0003g0097 a0001c0001t0009g0142 a0001c0005t0008g0065 others(3): Show a0001c0001t0003g0097 a0001c0001t0009g0142 a0001c0005t0008g0065 a0001c0005t0008g0154 a0002c0004t0004g0095 a0003c0012t0034g0010	6	168	0.0357	-20	c.548 others(39): Show c.548+57881_548+57900delTGCTGTGTGTTGGGGTCAGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7455020	AGTGTGTT others(13): Show AGTGTGTTGGGGTCAGGTGCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(80): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0014 a0017	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0015 a0001c0016 a0001c0017 a0001c0026 a0001c0031 a0001c0049 a0001c0051 a0001c0053 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0042 a0004c0043 a0005c0018 a0005c0021 a0009c0024 a0010c0032 a0011c0023 a0014c0052 a0017c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(63): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0035 a0001c0002t0038 a0001c0002t0042 a0001c0002t0044 a0001c0002t0051 a0001c0002t0053 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0016 a0001c0003t0023 a0001c0003t0050 a0001c0005t0003 a0001c0005t0008 a0001c0006t0001 a0001c0006t0002 a0001c0006t0052 a0001c0015t0011 a0001c0016t0001 a0001c0017t0015 a0001c0026t0004 a0001c0031t0025 a0001c0049t0001 a0001c0051t0001 a0001c0053t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0009 a0002c0004t0012 a0002c0004t0022 a0002c0004t0047 a0002c0050t0023 a0003c0012t0034 a0003c0012t0046 a0003c0013t0018 a0003c0042t0004 a0004c0043t0031 a0005c0018t0043 a0005c0021t0056 a0009c0024t0002 a0010c0032t0019 a0011c0023t0009 a0014c0052t0003 a0017c0019t0013	a0001c0001t0002g0130 a0001c0001t0003g0097 a0001c0001t0003g0138 others(80): Show a0001c0001t0002g0130 a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0007g0111 a0001c0001t0008g0063 a0001c0001t0009g0142 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0013g0011 a0001c0001t0017g0052 a0001c0002t0001g0087 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0082 a0001c0002t0004g0131 a0001c0002t0008g0008 a0001c0002t0010g0045 a0001c0002t0011g0112 a0001c0002t0035g0020 a0001c0002t0038g0096 a0001c0002t0042g0050 a0001c0002t0044g0019 a0001c0002t0051g0004 a0001c0002t0053g0115 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0002g0079 a0001c0003t0004g0088 a0001c0003t0005g0086 a0001c0003t0009g0135 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0014g0034 a0001c0003t0014g0140 a0001c0003t0016g0023 a0001c0003t0023g0147 a0001c0003t0050g0005 a0001c0005t0003g0032 a0001c0005t0003g0101 a0001c0005t0008g0065 a0001c0005t0008g0154 a0001c0006t0001g0054 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0006t0002g0165 a0001c0006t0052g0084 a0001c0015t0011g0002 a0001c0016t0001g0009 a0001c0017t0015g0124 a0001c0026t0004g0049 a0001c0031t0025g0144 a0001c0049t0001g0059 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0004g0012 a0002c0004t0004g0095 a0002c0004t0005g0110 a0002c0004t0009g0060 a0002c0004t0009g0078 a0002c0004t0012g0035 a0002c0004t0022g0057 a0002c0004t0022g0114 a0002c0004t0047g0134 a0002c0050t0023g0132 a0003c0012t0034g0010 a0003c0012t0046g0033 a0003c0013t0018g0100 a0003c0042t0004g0066 a0004c0043t0031g0058 a0005c0018t0043g0145 a0005c0021t0056g0103 a0009c0024t0002g0108 a0010c0032t0019g0149 a0011c0023t0009g0122 a0014c0052t0003g0030 a0017c0019t0013g0027	83	168	0.4940	-20	c.548 others(39): Show c.548+58681_548+58700delGTGCTGTGTGTTGGGGTCAG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7455576	AGCTGTGT others(13): Show AGCTGTGTGTTGGGGTCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02257.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0048 a0001c0001 a0001c0048	a0001c0001t0013 a0001c0048t0001 a0001c0001t0013 a0001c0048t0001	a0001c0001t0013g0011 a0001c0048t0001g0146 a0001c0001t0013g0011 a0001c0048t0001g0146	2	168	0.0119	-20	c.548 others(39): Show c.548+59241_548+59260delTGCTGTGTGTTGGGGTCAGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7477406	TGGGGCTG others(13): Show TGGGGCTGACCGTGGCTGATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01109.hp1 others(3): Show HG00099.hp1 HG00438.hp1 HG01109.hp1 HG01952.hp2 HG02293.hp1 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0005c0022	a0001c0001t0007 a0001c0001t0012 a0001c0002t0044 others(3): Show a0001c0001t0007 a0001c0001t0012 a0001c0002t0044 a0001c0003t0009 a0002c0004t0007 a0005c0022t0033	a0001c0001t0007g0111 a0001c0001t0012g0047 a0001c0002t0044g0019 others(3): Show a0001c0001t0007g0111 a0001c0001t0012g0047 a0001c0002t0044g0019 a0001c0003t0009g0135 a0002c0004t0007g0136 a0005c0022t0033g0153	6	168	0.0357	-20	c.549 others(39): Show c.549-54113_549-54094delGTGGCTGATCGGGGCTGACC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7540161	TCTCCCTG others(13): Show TCTCCCTGCCCCTCCCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02280.hp2 others(3): Show HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0012	a0001c0001 a0001c0003 a0001c0041 others(3): Show a0001c0001 a0001c0003 a0001c0041 a0003c0013 a0006c0008 a0012c0039	a0001c0001t0003 a0001c0003t0020 a0001c0041t0006 others(3): Show a0001c0001t0003 a0001c0003t0020 a0001c0041t0006 a0003c0013t0018 a0006c0008t0001 a0012c0039t0049	a0001c0001t0003g0168 a0001c0003t0020g0043 a0001c0041t0006g0031 others(3): Show a0001c0001t0003g0168 a0001c0003t0020g0043 a0001c0041t0006g0031 a0003c0013t0018g0100 a0006c0008t0001g0029 a0012c0039t0049g0064	6	21	0.2857	-20	c.648 others(37): Show c.648+8565_648+8584delCCCTGCCCCTCCCTGCCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7543396	CATCCATC others(13): Show CATCCATCCACCCATCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	168	0.0060	-20	c.648 others(39): Show c.648+11777_648+11796delCCCATCCATCTATCCATCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7543707	TCCACCCA others(13): Show TCCACCCATCCACCCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01109.hp2 HG01243.hp2	a0004 a0008 a0004 a0008	a0004c0007 a0008c0056 a0004c0007 a0008c0056	a0004c0007t0014 a0008c0056t0018 a0004c0007t0014 a0008c0056t0018	a0004c0007t0014g0166 a0008c0056t0018g0061 a0004c0007t0014g0166 a0008c0056t0018g0061	2	83	0.0241	-20	c.648 others(39): Show c.648+12082_648+12101delCCCATCCACCCATCCACCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7544019	TCCATCCA others(13): Show TCCATCCATCCAGCCACCCAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19030.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0009 a0001c0053 a0001c0009 a0001c0053	a0001c0009t0037 a0001c0053t0001 a0001c0009t0037 a0001c0053t0001	a0001c0009t0037g0042 a0001c0053t0001g0044 a0001c0009t0037g0042 a0001c0053t0001g0044	2	166	0.0120	-20	c.648 others(39): Show c.648+12422_648+12441delGCCACCCACCCATCCATCCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7663254	GTGAATAA others(13): Show GTGAATAAGTGAGTGAGTGAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0112 a0001c0002t0011g0112	1	168	0.0060	-20	c.953 others(37): Show c.953-1075_953-1056delATAAGTGAGTGAGTGAATGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7693166	ACCTCATC others(13): Show ACCTCATCTTCACCCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(114): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0015 a0016 a0017 a0018	a0001c0001 a0001c0002 a0001c0003 others(40): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0026 a0001c0029 a0001c0030 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0047 a0001c0049 a0001c0051 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0046 a0004c0007 a0004c0043 a0005c0018 a0005c0020 a0005c0021 a0005c0022 a0006c0008 a0006c0045 a0007c0027 a0008c0056 a0009c0024 a0010c0032 a0012c0039 a0015c0054 a0016c0040 a0017c0019 a0018c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(94): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0029 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0021 a0001c0002t0038 a0001c0002t0039 a0001c0002t0044 a0001c0002t0051 a0001c0002t0053 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0015 a0001c0003t0050 a0001c0005t0001 a0001c0005t0003 a0001c0005t0008 a0001c0006t0001 a0001c0006t0003 a0001c0006t0052 a0001c0009t0001 a0001c0009t0028 a0001c0009t0037 a0001c0010t0059 a0001c0011t0003 a0001c0011t0015 a0001c0011t0045 a0001c0014t0016 a0001c0016t0001 a0001c0017t0002 a0001c0017t0015 a0001c0026t0004 a0001c0029t0061 a0001c0030t0021 a0001c0034t0005 a0001c0036t0040 a0001c0037t0017 a0001c0038t0032 a0001c0047t0057 a0001c0049t0001 a0001c0051t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0009 a0002c0004t0012 a0002c0004t0022 a0002c0050t0023 a0003c0012t0034 a0003c0013t0030 a0003c0046t0001 a0004c0007t0001 a0004c0007t0014 a0004c0043t0031 a0005c0018t0043 a0005c0020t0017 a0005c0021t0056 a0005c0022t0033 a0006c0008t0001 a0006c0008t0006 a0006c0045t0001 a0007c0027t0002 a0008c0056t0018 a0009c0024t0002 a0010c0032t0019 a0012c0039t0049 a0015c0054t0020 a0016c0040t0003 a0017c0019t0013 a0018c0025t0019	a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 others(114): Show a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 a0001c0001t0003g0168 a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0005g0085 a0001c0001t0006g0125 a0001c0001t0007g0111 a0001c0001t0009g0142 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0013g0099 a0001c0001t0017g0052 a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0001t0029g0141 a0001c0001t0048g0094 a0001c0001t0054g0007 a0001c0001t0055g0092 a0001c0001t0058g0161 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0018 a0001c0002t0003g0082 a0001c0002t0004g0131 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0008g0008 a0001c0002t0008g0121 a0001c0002t0010g0045 a0001c0002t0011g0112 a0001c0002t0021g0090 a0001c0002t0038g0096 a0001c0002t0039g0070 a0001c0002t0044g0019 a0001c0002t0051g0004 a0001c0002t0053g0115 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0004g0088 a0001c0003t0005g0086 a0001c0003t0009g0135 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0015g0091 a0001c0003t0050g0005 a0001c0005t0001g0156 a0001c0005t0003g0032 a0001c0005t0008g0154 a0001c0006t0001g0054 a0001c0006t0003g0117 a0001c0006t0052g0084 a0001c0009t0001g0151 a0001c0009t0028g0038 a0001c0009t0037g0042 a0001c0010t0059g0163 a0001c0011t0003g0120 a0001c0011t0015g0077 a0001c0011t0045g0107 a0001c0014t0016g0139 a0001c0016t0001g0009 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0026t0004g0049 a0001c0029t0061g0162 a0001c0030t0021g0109 a0001c0034t0005g0093 a0001c0036t0040g0022 a0001c0037t0017g0017 a0001c0038t0032g0128 a0001c0047t0057g0051 a0001c0049t0001g0059 a0001c0051t0001g0068 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0004g0012 a0002c0004t0004g0046 a0002c0004t0004g0095 a0002c0004t0005g0083 a0002c0004t0005g0110 a0002c0004t0007g0136 a0002c0004t0009g0060 a0002c0004t0012g0035 a0002c0004t0022g0057 a0002c0050t0023g0132 a0003c0012t0034g0010 a0003c0013t0030g0041 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0001g0126 a0004c0007t0014g0166 a0004c0043t0031g0058 a0005c0018t0043g0145 a0005c0020t0017g0037 a0005c0021t0056g0103 a0005c0022t0033g0153 a0006c0008t0001g0006 a0006c0008t0006g0155 a0006c0045t0001g0148 a0007c0027t0002g0116 a0008c0056t0018g0061 a0009c0024t0002g0108 a0010c0032t0019g0149 a0012c0039t0049g0064 a0015c0054t0020g0113 a0016c0040t0003g0024 a0017c0019t0013g0027 a0018c0025t0019g0025	117	168	0.6964	-20	c.159 others(39): Show c.1591+3610_1591+3629delCCCTTTCTTCCTCATCTTCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695476	ATGGGTGA others(13): Show ATGGGTGAGTGGATGGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0046 a0002c0004t0004g0046	1	167	0.0060	-20	c.159 others(39): Show c.1592-1675_1592-1656delAGTGGATGGGTGGGTGGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7695740	GTGGATGG others(13): Show GTGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(105): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp2 NA19066.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0015 a0016 a0017 a0018	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0014 a0001c0017 a0001c0026 a0001c0029 a0001c0030 a0001c0034 a0001c0036 a0001c0038 a0001c0047 a0001c0049 a0001c0051 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0046 a0004c0007 a0004c0043 a0005c0018 a0005c0020 a0006c0008 a0006c0045 a0007c0027 a0009c0024 a0010c0032 a0015c0054 a0016c0040 a0017c0019 a0018c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(87): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0029 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0021 a0001c0002t0038 a0001c0002t0039 a0001c0002t0044 a0001c0002t0051 a0001c0002t0053 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0015 a0001c0003t0016 a0001c0003t0020 a0001c0003t0050 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0006t0001 a0001c0006t0003 a0001c0006t0052 a0001c0009t0001 a0001c0009t0028 a0001c0009t0037 a0001c0010t0059 a0001c0014t0016 a0001c0017t0002 a0001c0017t0015 a0001c0026t0004 a0001c0029t0061 a0001c0030t0021 a0001c0034t0005 a0001c0036t0040 a0001c0038t0032 a0001c0047t0057 a0001c0049t0001 a0001c0051t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0009 a0002c0004t0012 a0002c0004t0022 a0002c0050t0023 a0003c0012t0034 a0003c0013t0030 a0003c0046t0001 a0004c0007t0001 a0004c0007t0014 a0004c0043t0031 a0005c0018t0043 a0005c0020t0017 a0006c0008t0001 a0006c0008t0006 a0006c0045t0001 a0007c0027t0002 a0009c0024t0002 a0010c0032t0019 a0015c0054t0020 a0016c0040t0003 a0017c0019t0013 a0018c0025t0019	a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 others(105): Show a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 a0001c0001t0003g0168 a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0005g0085 a0001c0001t0006g0125 a0001c0001t0007g0111 a0001c0001t0009g0142 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0013g0099 a0001c0001t0017g0052 a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0001t0029g0141 a0001c0001t0048g0094 a0001c0001t0054g0007 a0001c0001t0055g0092 a0001c0001t0058g0161 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0082 a0001c0002t0004g0131 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0008g0008 a0001c0002t0008g0121 a0001c0002t0010g0045 a0001c0002t0011g0112 a0001c0002t0021g0090 a0001c0002t0038g0096 a0001c0002t0039g0070 a0001c0002t0044g0019 a0001c0002t0051g0004 a0001c0002t0053g0115 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0004g0088 a0001c0003t0005g0086 a0001c0003t0009g0135 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0015g0091 a0001c0003t0016g0023 a0001c0003t0020g0043 a0001c0003t0050g0005 a0001c0005t0001g0156 a0001c0005t0003g0032 a0001c0005t0005g0102 a0001c0006t0001g0054 a0001c0006t0003g0117 a0001c0006t0052g0084 a0001c0009t0001g0151 a0001c0009t0028g0038 a0001c0009t0037g0042 a0001c0010t0059g0163 a0001c0014t0016g0139 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0026t0004g0049 a0001c0029t0061g0162 a0001c0030t0021g0109 a0001c0034t0005g0093 a0001c0036t0040g0022 a0001c0038t0032g0128 a0001c0047t0057g0051 a0001c0049t0001g0059 a0001c0051t0001g0068 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0004g0012 a0002c0004t0004g0046 a0002c0004t0004g0095 a0002c0004t0005g0083 a0002c0004t0005g0110 a0002c0004t0007g0136 a0002c0004t0009g0060 a0002c0004t0012g0035 a0002c0004t0022g0057 a0002c0050t0023g0132 a0003c0012t0034g0010 a0003c0013t0030g0041 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0001g0126 a0004c0007t0014g0166 a0004c0043t0031g0058 a0005c0018t0043g0145 a0005c0020t0017g0037 a0006c0008t0001g0006 a0006c0008t0006g0155 a0006c0045t0001g0148 a0007c0027t0002g0116 a0009c0024t0002g0108 a0010c0032t0019g0149 a0015c0054t0020g0113 a0016c0040t0003g0024 a0017c0019t0013g0027 a0018c0025t0019g0025	108	135	0.8000	-20	c.159 others(39): Show c.1592-1424_1592-1405delGGATGGATGGATGGATGGAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104640524	TCACGCCC others(13): Show TCACGCCCGCCTGCCTGCGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	134	0.0075	-20	c.-80 others(29): Show c.-803_-784delCACGCCCGCCTGCCTGCGCG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding		765		chr10	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04204.hp1 HG01243.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0127 a0001c0002t0001g0091 a0001c0001t0010g0127 a0001c0002t0001g0091	2	22	0.0909	-20	c.627 others(39): Show c.627+42860_627+42879delTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940224	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19003.hp1 NA19010.hp2 HG03453.hp2 NA19003.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003	a0001c0001t0002g0065 a0001c0001t0004g0066 a0001c0002t0003g0070 a0001c0001t0002g0065 a0001c0001t0004g0066 a0001c0002t0003g0070	3	128	0.0234	-20	c.795 others(39): Show c.795+24294_795+24313delATATATATATATATTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940228	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	121	0.0083	-20	c.795 others(39): Show c.795+24298_795+24317delATATATATATTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105091221	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19090.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0111 a0001c0001t0002g0093 a0001c0001t0002g0111	2	134	0.0149	-20	c.109 others(39): Show c.1093+1394_1093+1413delTTCCCTCCTTCCTTCCTTCC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45038126	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp2 HG02109.hp1 others(2): Show HG01099.hp1 HG01123.hp2 HG02109.hp1 HG02965.hp1 NA18993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0019 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0019 a0002c0002t0020	a0001c0001t0001g0265 a0001c0001t0001g0290 a0002c0002t0002g0010 others(2): Show a0001c0001t0001g0265 a0001c0001t0001g0290 a0002c0002t0002g0010 a0002c0002t0019g0269 a0002c0002t0020g0274	5	62	0.0806	-20	c.67- others(35): Show c.67-2232_67-2213delCTTCCTTCCTTCCTTCCTTC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SORT1_chr1_109304575_109402918	109326450	TATATATA others(13): Show TATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	238	0.0042	-20	c.164 others(37): Show c.1643+522_1643+541delGTATGTATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109331841	GAATATAA others(13): Show GAATATAAAATCAACATATAA	G G	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	238	0.0042	-20	c.137 others(39): Show c.1372-4260_1372-4241delTTATATGTTGATTTTATATT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	11/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(3): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01243.hp1 HG03017.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0002c0006t0016	a0001c0001t0001g0116 a0001c0001t0007g0134 a0001c0002t0003g0195 others(3): Show a0001c0001t0001g0116 a0001c0001t0007g0134 a0001c0002t0003g0195 a0001c0002t0003g0213 a0001c0002t0003g0217 a0002c0006t0016g0229	6	24	0.2500	-20	c.307 others(37): Show c.307-9130_307-9111delATATATATATATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS2_chr14_50112130_50236578	50160379	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00609.hp1 others(106): Show HG00099.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01123.hp2 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0002 a0001c0003 a0003c0006 others(2): Show a0001c0002 a0001c0003 a0003c0006 a0005c0010 a0007c0015	a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 others(6): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0003t0001 a0003c0006t0001 a0005c0010t0001 a0007c0015t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 others(106): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0120 a0001c0002t0001g0125 a0001c0002t0001g0152 a0001c0002t0001g0274 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0009g0060 a0001c0002t0010g0378 a0001c0002t0013g0381 a0001c0003t0001g0092 a0003c0006t0001g0027 a0003c0006t0001g0361 a0005c0010t0001g0061 a0007c0015t0001g0036	109	125	0.8720	-20	c.119 others(37): Show c.1197-313_1197-294delAAAAAAAAAAAAAAAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	9/22			chr14	TogoVar
SOSTDC1_chr7_16456481_16470738	16470044	TTATATAT others(13): Show TTATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA18960.hp1 NA19056.hp2 HG02886.hp1 NA18960.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0001t0001g0004 a0001c0001t0002g0001	3	50	0.0600	-20	c.-43 others(31): Show c.-4396_-4377delTATATATATATATATATATA	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4307		chr7	TogoVar
SOWAHB_chr4_76889152_76903144	76900847	AAAAACAA others(13): Show AAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03098.hp1 HG02717.hp1 HG02976.hp2 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0000 a0003c0003t0004g0000	3	436	0.0069	-20	c.-30 others(31): Show c.-3018_-2999delGTTTTTTTTTTTTTTGTTTT	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		2704		chr4	TogoVar
SOX5_chr12_23524504_23954670	23570922	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp2 HG02165.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0097 a0001c0002t0006 a0001c0001t0097 a0001c0002t0006	a0001c0001t0097g0062 a0001c0002t0006g0126 a0001c0001t0097g0062 a0001c0002t0006g0126	2	208	0.0096	-20	c.134 others(39): Show c.1342+4719_1342+4738delATATATATATATTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570930	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0098 a0001c0001t0069g0098	1	160	0.0063	-20	c.134 others(39): Show c.1342+4711_1342+4730delATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23726118	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02559.hp1 others(5): Show HG02258.hp2 HG02451.hp2 HG02559.hp1 HG03041.hp1 HG03471.hp2 HG06807.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 a0001c0001t0079 a0001c0002t0048	a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0108 others(5): Show a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0001g0157 a0001c0001t0014g0110 a0001c0001t0027g0106 a0001c0001t0079g0197 a0001c0002t0048g0113	8	22	0.3636	-20	c.810 others(37): Show c.810+8546_810+8565delTCTCTCTCTCTCTCTCTCTC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0037 a0001c0001t0011 a0001c0001t0037	a0001c0001t0011g0082 a0001c0001t0037g0081 a0001c0001t0011g0082 a0001c0001t0037g0081	2	15	0.1333	-20	c.482 others(39): Show c.482-36918_482-36899delTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23804913	TTTTATAT others(13): Show TTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0077 a0001c0001t0042g0077	1	208	0.0048	-20	c.481 others(39): Show c.481+41050_481+41069delTATATATATATATATATAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23804915	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01258.hp1 others(11): Show HG00639.hp1 HG00738.hp1 HG01258.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG03041.hp2 HG03225.hp1 HG03704.hp2 HG03710.hp1 NA18522.hp2 NA18994.hp2 NA19077.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0036 a0001c0001t0038 a0001c0001t0067 a0001c0001t0069 a0001c0001t0090 a0001c0001t0122 a0001c0002t0046 a0001c0002t0051 a0001c0002t0053 a0001c0006t0007	a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0002g0085 others(11): Show a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0002g0085 a0001c0001t0024g0034 a0001c0001t0036g0112 a0001c0001t0038g0168 a0001c0001t0067g0051 a0001c0001t0069g0098 a0001c0001t0090g0072 a0001c0001t0122g0069 a0001c0002t0046g0161 a0001c0002t0051g0070 a0001c0002t0053g0095 a0001c0006t0007g0115	14	22	0.6364	-20	c.481 others(39): Show c.481+41048_481+41067delTATATATATATATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 NA18522.hp2 HG01175.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0039 a0001c0001t0003 a0001c0002t0001 a0001c0002t0039	a0001c0001t0003g0026 a0001c0002t0001g0065 a0001c0002t0039g0019 a0001c0001t0003g0026 a0001c0002t0001g0065 a0001c0002t0039g0019	3	31	0.0968	-20	c.110 others(39): Show c.1102-7615_1102-7596delTATATATATATATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16064521	TATATATA others(13): Show TATATATATATATATGAAGCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG03486.hp1 HG01243.hp1 HG02572.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0017g0033 a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0017g0033	3	216	0.0139	-20	c.110 others(39): Show c.1102-8640_1102-8621delGGCTTCATATATATATATAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132262	AGAAAGAA others(13): Show AGAAAGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp1 HG00639.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0046 a0001c0001t0001 a0001c0001t0046	a0001c0001t0001g0023 a0001c0001t0046g0217 a0001c0001t0001g0023 a0001c0001t0046g0217	2	168	0.0119	-20	c.778 others(39): Show c.778-20359_778-20340delCTTCCTTCCTTCCTTCTTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar

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