Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SNX29_chr16_11971734_12579287	12013500	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01069.hp1 HG01071.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0041 a0001c0003t0004 a0001c0003t0041	a0001c0003t0004g0093 a0001c0003t0004g0096 a0001c0003t0041g0075 a0001c0003t0004g0093 a0001c0003t0004g0096 a0001c0003t0041g0075	3	56	0.0536	27	c.122 others(46): Show c.122+10458_122+10459insAAAAATATATATATATATATATATAT A	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12063366	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0069 a0001c0004t0069	a0001c0004t0069g0111 a0001c0004t0069g0111	1	18	0.0556	27	c.124 others(46): Show c.1243+1746_1243+1747insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12323167	A A	AGTCACTG others(20): Show AGTCACTGGGGACCACTGTCAGGATGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03540.hp2 HG03579.hp1 others(1): Show HG02257.hp1 HG03540.hp2 HG03579.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0019	a0001c0001t0027 a0001c0002t0106 a0001c0003t0054 others(1): Show a0001c0001t0027 a0001c0002t0106 a0001c0003t0054 a0005c0019t0019	a0001c0001t0027g0083 a0001c0002t0106g0036 a0001c0003t0054g0033 others(1): Show a0001c0001t0027g0083 a0001c0002t0106g0036 a0001c0003t0054g0033 a0005c0019t0019g0067	4	173	0.0231	27	c.178 others(48): Show c.1783-32988_1783-32987insGGACCACTGTCAGGATGTGGTCAC TGG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12364416	C C	CTTCTTTT others(20): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0078 a0001c0004t0078	a0001c0004t0078g0054 a0001c0004t0078g0054	1	171	0.0058	27	c.189 others(46): Show c.1899+8139_1899+8140insCTTTTTTTTTTTTTTTTTTTTTTTTT T	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12380373	T T	TATCCACC others(20): Show TATCCACCCACCCACCCACCCCTCATCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03098.hp1 others(2): Show HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0034 a0001c0001t0046 a0001c0002t0018 others(1): Show a0001c0001t0034 a0001c0001t0046 a0001c0002t0018 a0001c0004t0020	a0001c0001t0034g0030 a0001c0001t0046g0052 a0001c0002t0018g0034 others(2): Show a0001c0001t0034g0030 a0001c0001t0046g0052 a0001c0002t0018g0034 a0001c0004t0020g0038 a0001c0004t0020g0055	5	151	0.0331	27	c.190 others(48): Show c.1900-18038_1900-18012dupCACCCACCCACCCCTCATCCATCC ACC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12381125	C C	CCCACCCA others(20): Show CCCACCCACCCACCCACCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02559.hp2 others(1): Show HG01884.hp2 HG02486.hp2 HG02559.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0028 a0001c0002t0018 a0001c0002t0085 others(1): Show a0001c0001t0028 a0001c0002t0018 a0001c0002t0085 a0001c0004t0097	a0001c0001t0028g0123 a0001c0002t0018g0037 a0001c0002t0085g0147 others(1): Show a0001c0001t0028g0123 a0001c0002t0018g0037 a0001c0002t0085g0147 a0001c0004t0097g0125	4	174	0.0230	27	c.190 others(48): Show c.1900-17311_1900-17285dupCACCCACCATCCATCCATCCACCC ACC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX2_chr5_122770080_122839543	122806140	G G	GCTGCGCG others(20): Show GCTGCGCGCACGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	368	0.0027	27	c.644 others(44): Show c.644-2136_644-2135insTGCGCGCACGCACACACACACACACAC	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SNX32_chr11_65828963_65858701	65839225	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA21309.hp2 HG01891.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0002g0020 a0001c0001t0001g0178 a0001c0001t0002g0020	2	26	0.0769	27	c.36+ others(42): Show c.36+5146_36+5147insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
SNX4_chr3_125441650_125525202	125495250	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	247	0.0040	27	c.597 others(44): Show c.597+2090_597+2091insTATATATATATATATATATATATATAT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SNX5_chr20_17936600_17973794	17956673	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	80	0.0125	27	c.156 others(42): Show c.156+233_156+259dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SNX5	ENSG00000089006.17	transcript	ENST00000377759.9	protein_coding	2/12			chr20	TogoVar
SNX6_chr14_34556093_34635148	34557496	A A	ATTCTTCT others(20): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	68	0.0147	27	c.56 others(38): Show c.5625_*5626insGAAGAAGAAGAAGAAGAAGAAGAAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3596		chr14	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02135.hp1 others(4): Show HG01256.hp1 HG01258.hp2 HG02135.hp1 NA18956.hp1 NA18968.hp1 NA19000.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0027 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0091	7	318	0.0220	27	c.33 others(38): Show c.3310_*3311insTATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	234	0.0043	27	c.33 others(38): Show c.3312_*3313insAAAATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18972.hp1 NA18961.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0001g0037 a0001c0001t0001g0058	2	235	0.0085	27	c.33 others(38): Show c.3312_*3313insAATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 NA18906.hp2 others(3): Show HG00323.hp2 HG00597.hp2 NA18906.hp2 NA18947.hp2 NA19005.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0002t0001g0337	6	239	0.0251	27	c.33 others(38): Show c.3312_*3313insTATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX9_chr6_157818246_157950077	157827023	T T	TATATAAA others(20): Show TATATAAACATATATTATAGTTTATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01891.hp1 others(2): Show HG00642.hp2 HG01081.hp2 HG01891.hp1 HG03491.hp1 HG03669.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0003 a0003c0005t0003 a0001c0003t0003 a0003c0005t0003	a0001c0003t0003g0267 a0001c0003t0003g0275 a0001c0003t0003g0276 others(2): Show a0001c0003t0003g0267 a0001c0003t0003g0275 a0001c0003t0003g0276 a0003c0005t0003g0271 a0003c0005t0003g0274	5	297	0.0168	27	c.12+ others(42): Show c.12+3582_12+3583insAACATATATTATAGTTTATATAATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827052	T T	TATATAAA others(20): Show TATATAAACATATATTATAGTTTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG01256.hp1 others(2): Show HG00099.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0272 a0001c0001t0003g0268 a0001c0001t0003g0285 others(2): Show a0001c0001t0001g0272 a0001c0001t0003g0268 a0001c0001t0003g0285 a0001c0003t0003g0269 a0001c0003t0003g0270	5	300	0.0167	27	c.12+ others(42): Show c.12+3612_12+3638dupAACATATATTATAGTTTATATAATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179351721	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0077 a0001c0004t0077	a0001c0004t0077g0362 a0001c0004t0077g0362	1	38	0.0263	27	c.159 others(44): Show c.1596+275_1596+276insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 NA19043.hp1 HG01074.hp1 HG01106.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0037 a0001c0001t0002 a0001c0001t0037	a0001c0001t0002g0059 a0001c0001t0037g0142 a0001c0001t0002g0059 a0001c0001t0037g0142	3	49	0.0612	27	c.-90 others(44): Show c.-90-1143_-90-1142insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS6_chr18_70284045_70335199	70324302	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02559.hp2 others(4): Show HG01891.hp1 HG02055.hp1 HG02559.hp2 HG02809.hp1 HG02895.hp2 HG02970.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0082 others(4): Show a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0210	7	327	0.0214	27	c.-12 others(44): Show c.-126-218_-126-217insTAATAATAATAATAATAATAATAATAA	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr18	TogoVar
SOGA1_chr20_36772447_36868538	36775773	G G	GCAGGAGA others(20): Show GCAGGAGAATCACTTGAACCTGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0008 a0001c0001t0024g0008	1	280	0.0036	27	c.10 others(40): Show c.10711_*10712insGCCTCCCAGGTTCAAGTGATTCTCCTG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding		1673		chr20	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG03710.hp2 others(1): Show HG02630.hp2 HG03098.hp1 HG03710.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0137 a0001c0001t0001g0193 a0001c0001t0002g0110 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0193 a0001c0001t0002g0110 a0001c0004t0001g0244	4	56	0.0714	27	c.641 others(44): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95347441	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0024 a0014c0032t0024	a0014c0032t0024g0013 a0014c0032t0024g0013	1	80	0.0125	27	c.238 others(44): Show c.2383-990_2383-989insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0048 a0005c0014t0001g0048	1	107	0.0093	27	c.-46 others(46): Show c.-46+23122_-46+23148dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185751172	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01070.hp1 others(11): Show HG00099.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01978.hp1 HG02040.hp2 HG02148.hp2 HG02602.hp2 HG04184.hp2 NA18944.hp1 NA18991.hp2 NA19000.hp1 NA19057.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0051 a0001c0002t0002	a0001c0001t0001g0041 a0001c0001t0001g0136 a0001c0001t0001g0159 others(11): Show a0001c0001t0001g0041 a0001c0001t0001g0136 a0001c0001t0001g0159 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0229 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0003g0057 a0001c0001t0004g0170 a0001c0001t0008g0166 a0001c0001t0008g0201 a0001c0001t0051g0164 a0001c0002t0002g0131	14	212	0.0660	27	c.-96 others(46): Show c.-96-17019_-96-17018insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0013 a0001c0002t0045g0013	1	197	0.0051	27	c.-96 others(46): Show c.-96-17037_-96-17036insCTTTTTTTTTTTTTTTTTTTTTTTTT T	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp2 NA19240.hp1 HG01496.hp1 HG01891.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0004t0002g0102 a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0004t0002g0102	3	47	0.0638	27	c.627 others(46): Show c.627-61832_627-61831insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0030 a0001c0005t0002g0030	1	26	0.0385	27	c.559 others(46): Show c.559-78127_559-78101dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0077 a0001c0011t0015g0077	1	31	0.0323	27	c.481 others(46): Show c.481-22809_481-22808insATATATATATATATTTTTTTTTTTTT T	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442295	G G	GCCCAGGT others(20): Show GCCCAGGTCGTCATCCACCTCCTCTCAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01891.hp1 HG02015.hp1 others(5): Show HG00733.hp2 HG01891.hp1 HG02015.hp1 HG02056.hp2 HG03453.hp2 HG03579.hp1 HG03942.hp1 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0001c0016 a0003c0046	a0001c0002t0002 a0001c0003t0002 a0001c0003t0005 others(4): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0005 a0001c0005t0005 a0001c0015t0011 a0001c0016t0001 a0003c0046t0001	a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0003t0002g0073 others(5): Show a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0003t0002g0073 a0001c0003t0005g0086 a0001c0005t0005g0102 a0001c0015t0011g0002 a0001c0016t0001g0009 a0003c0046t0001g0164	8	70	0.1143	27	c.548 others(46): Show c.548+45940_548+45941insCCCAGGTCGTCATCCACCTCCTCTCA C	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449141	C C	CTCTTTTC others(20): Show CTCTTTTCCCTCTCTCCCTCCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0003 a0010 a0003 a0010	a0003c0013 a0010c0032 a0003c0013 a0010c0032	a0003c0013t0018 a0010c0032t0019 a0003c0013t0018 a0010c0032t0019	a0003c0013t0018g0100 a0010c0032t0019g0149 a0003c0013t0018g0100 a0010c0032t0019g0149	2	77	0.0260	27	c.548 others(46): Show c.548+52812_548+52813insGTCTTTTCCCTCTCTCCCTCCCTTCC T	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449159	T T	TCCCTTCC others(20): Show TCCCTTCCTGTCTTTCCCTCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0004 a0001c0026t0004	a0001c0026t0004g0049 a0001c0026t0004g0049	1	168	0.0060	27	c.548 others(46): Show c.548+52812_548+52813insGTCTTTCCCTCTCTCCCTCCCCTTCC T	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706072	C C	CTGGGCTC others(20): Show CTGGGCTCCGTCTGGGCAGGGATGAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01070.hp2 others(22): Show HG00099.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp2 HG01934.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02602.hp1 HG02602.hp2 HG03688.hp1 HG03710.hp2 HG04199.hp1 NA19000.hp2 NA19066.hp1 NA19240.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0018	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0030 a0001c0041 a0002c0004 a0003c0013 a0010c0032 a0018c0025	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(17): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0048 a0001c0002t0008 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0030t0021 a0001c0041t0006 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0009 a0002c0004t0022 a0003c0013t0018 a0010c0032t0019 a0018c0025t0019	a0001c0001t0003g0003 a0001c0001t0005g0014 a0001c0001t0005g0085 others(22): Show a0001c0001t0003g0003 a0001c0001t0005g0014 a0001c0001t0005g0085 a0001c0001t0008g0063 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0048g0094 a0001c0002t0008g0121 a0001c0003t0002g0073 a0001c0003t0009g0135 a0001c0003t0010g0001 a0001c0030t0021g0109 a0001c0041t0006g0031 a0002c0004t0002g0127 a0002c0004t0004g0046 a0002c0004t0005g0083 a0002c0004t0005g0110 a0002c0004t0009g0060 a0002c0004t0009g0078 a0002c0004t0022g0057 a0003c0013t0018g0100 a0010c0032t0019g0149 a0018c0025t0019g0025	25	167	0.1497	27	c.186 others(46): Show c.1868+1795_1868+1796insCGTCTGGGCAGGGATGAGGTTGGGCT C	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706141	A A	ACAGGGAT others(20): Show ACAGGGATGAGGCTGGGCTCCGCCTGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0040 a0001c0036t0040	a0001c0036t0040g0022 a0001c0036t0040g0022	1	168	0.0060	27	c.186 others(46): Show c.1868+1860_1868+1861insGGATGAGGCTGGGCTCCGCCTGGGCA G	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706172	G G	GGATGAGG others(20): Show GGATGAGGCTGGGCTCTGCCTGGACAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG03540.hp1 HG02451.hp2 HG02559.hp1 HG03540.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0052 a0001c0001 a0014c0052	a0001c0001t0003 a0014c0052t0003 a0001c0001t0003 a0014c0052t0003	a0001c0001t0003g0097 a0001c0001t0003g0138 a0014c0052t0003g0030 a0001c0001t0003g0097 a0001c0001t0003g0138 a0014c0052t0003g0030	3	167	0.0180	27	c.186 others(46): Show c.1868+1903_1868+1904insTGCCTGGACAGAGATGAGGCTGGGCT C	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706242	C C	CGCCTGGG others(20): Show CGCCTGGGCAGGGATGAGGCTGCGCTCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02293.hp1 HG01934.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0012g0047 a0001c0001t0012g0137	2	168	0.0119	27	c.186 others(46): Show c.1868+1979_1868+1980insCGCTCTGCCTGGGCAGGGATGAGGCT G	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706296	C C	CGTCTGGG others(20): Show CGTCTGGGCAGGGATGAGGCTGGGCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01169.hp2 others(14): Show HG00323.hp1 HG00642.hp2 HG01169.hp2 HG02040.hp2 HG02300.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG04115.hp1 NA19066.hp2 NA19240.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0014 a0001c0026 a0002c0004 a0005c0018 a0007c0027	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0036 a0001c0002t0035 a0001c0003t0016 a0001c0003t0020 a0001c0005t0006 a0001c0009t0001 a0001c0009t0028 a0001c0014t0016 a0001c0026t0004 a0002c0004t0047 a0005c0018t0043 a0007c0027t0002	a0001c0001t0002g0130 a0001c0001t0003g0168 a0001c0001t0007g0055 others(14): Show a0001c0001t0002g0130 a0001c0001t0003g0168 a0001c0001t0007g0055 a0001c0001t0013g0011 a0001c0001t0013g0099 a0001c0001t0036g0106 a0001c0002t0035g0020 a0001c0003t0016g0023 a0001c0003t0020g0043 a0001c0005t0006g0157 a0001c0009t0001g0151 a0001c0009t0028g0038 a0001c0014t0016g0139 a0001c0026t0004g0049 a0002c0004t0047g0134 a0005c0018t0043g0145 a0007c0027t0002g0116	17	103	0.1650	27	c.186 others(46): Show c.1868+2038_1868+2039insTGTCTGGGCAGGGATGAGGCTGGGCT C	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706350	C C	CGTCTGGG others(20): Show CGTCTGGGCAGGGATGAGGCTGGGCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG01258.hp2 others(4): Show HG01192.hp2 HG01243.hp1 HG01258.hp2 HG02040.hp1 HG03492.hp1 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0031 a0001c0001 a0001c0002 a0001c0031	a0001c0001t0004 a0001c0001t0009 a0001c0002t0010 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0002t0010 a0001c0002t0038 a0001c0002t0042 a0001c0031t0025	a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0009g0142 others(4): Show a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0009g0142 a0001c0002t0010g0045 a0001c0002t0038g0096 a0001c0002t0042g0050 a0001c0031t0025g0144	7	36	0.1944	27	c.186 others(46): Show c.1868+2095_1868+2121dupTCTGGGCAGGGATGAGGCTGGGCTCT G	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706485	A A	AGATGAGG others(20): Show AGATGAGGCTGGGCTCCACCTGGGCAGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0016 a0016	a0016c0040 a0016c0040	a0016c0040t0003 a0016c0040t0003	a0016c0040t0003g0024 a0016c0040t0003g0024	1	106	0.0094	27	c.186 others(46): Show c.1868+2217_1868+2218insACCTGGGCAGGGATGAGGCTGGGCTC C	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706485	A A	AGATGAGG others(20): Show AGATGAGGCTGGGCTCCGCCTGGGCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(58): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02809.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18962.hp1 NA18962.hp2 NA19000.hp1 NA19000.hp2 NA19066.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0010 a0011 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0017 a0001c0030 a0001c0036 a0001c0038 a0001c0041 a0001c0047 a0002c0004 a0002c0050 a0003c0013 a0006c0008 a0010c0032 a0011c0023 a0014c0052 a0018c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(41): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0029 a0001c0001t0048 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0021 a0001c0002t0039 a0001c0002t0051 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0015t0011 a0001c0017t0002 a0001c0017t0015 a0001c0030t0021 a0001c0036t0040 a0001c0038t0032 a0001c0041t0006 a0001c0047t0057 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0012 a0002c0004t0022 a0002c0050t0023 a0003c0013t0018 a0006c0008t0006 a0010c0032t0019 a0011c0023t0009 a0014c0052t0003 a0018c0025t0019	a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 others(58): Show a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0004g0053 a0001c0001t0005g0014 a0001c0001t0005g0085 a0001c0001t0007g0111 a0001c0001t0008g0063 a0001c0001t0010g0129 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0029g0141 a0001c0001t0048g0094 a0001c0001t0058g0161 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0003g0082 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0008g0008 a0001c0002t0008g0121 a0001c0002t0011g0112 a0001c0002t0021g0090 a0001c0002t0039g0070 a0001c0002t0051g0004 a0001c0003t0002g0073 a0001c0003t0005g0086 a0001c0003t0010g0021 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0030t0021g0109 a0001c0036t0040g0022 a0001c0038t0032g0128 a0001c0041t0006g0031 a0001c0047t0057g0051 a0002c0004t0002g0013 a0002c0004t0002g0127 a0002c0004t0004g0012 a0002c0004t0004g0046 a0002c0004t0004g0095 a0002c0004t0005g0083 a0002c0004t0005g0110 a0002c0004t0007g0136 a0002c0004t0012g0035 a0002c0004t0022g0057 a0002c0050t0023g0132 a0003c0013t0018g0100 a0006c0008t0006g0155 a0010c0032t0019g0149 a0011c0023t0009g0122 a0014c0052t0003g0030 a0018c0025t0019g0025	61	166	0.3675	27	c.186 others(46): Show c.1868+2217_1868+2243dupCGCCTGGGCAGGGATGAGGCTGGGCT C	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706653	G G	GCCTGGGC others(20): Show GCCTGGGCAGGGATGAGGCTGGGCTCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0018 a0003c0013t0018	a0003c0013t0018g0100 a0003c0013t0018g0100	1	168	0.0060	27	c.186 others(46): Show c.1868+2395_1868+2421dupCTCCTGGGCAGGGATGAGGCTGGGCT C	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706771	A A	AGATGAGG others(20): Show AGATGAGGCTGGGCTCTGTCTGGGCAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0029 a0003c0012 a0001c0029 a0003c0012	a0001c0029t0061 a0003c0012t0046 a0001c0029t0061 a0003c0012t0046	a0001c0029t0061g0162 a0003c0012t0046g0033 a0001c0029t0061g0162 a0003c0012t0046g0033	2	168	0.0119	27	c.186 others(46): Show c.1868+2526_1868+2552dupGCTCTGTCTGGGCAGGGATGAGGCTG G	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0002 a0007c0019t0002	a0007c0019t0002g0109 a0007c0019t0002g0109	1	6	0.1667	27	c.627 others(46): Show c.627+29372_627+29398dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0063 a0001c0018t0002g0063	1	13	0.0769	27	c.627 others(46): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0107 a0001c0011t0001g0107	1	26	0.0385	27	c.168 others(46): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp1 HG03492.hp1 HG00642.hp2 HG03490.hp1 HG03492.hp1	a0002 a0008 a0002 a0008	a0002c0026 a0008c0024 a0002c0026 a0008c0024	a0002c0026t0005 a0008c0024t0002 a0002c0026t0005 a0008c0024t0002	a0002c0026t0005g0245 a0008c0024t0002g0033 a0008c0024t0002g0034 a0002c0026t0005g0245 a0008c0024t0002g0033 a0008c0024t0002g0034	3	13	0.2308	27	c.205 others(46): Show c.2051+1990_2051+2016dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04115.hp2 HG03927.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0102 a0001c0001t0001g0103	2	51	0.0392	27	c.865 others(44): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0355 a0001c0005t0001g0355	1	47	0.0213	27	c.511 others(42): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03098.hp2 HG01069.hp1 HG01071.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	3	330	0.0091	27	c.-58 others(36): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	121	0.0083	27	c.188 others(46): Show c.1881-5353_1881-5327dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar

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