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
SNX9_chr6_157818246_157950077	157840420	T T	TTTCTTTC others(19): Show TTTCTTTCTTTCCTTTCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01884.hp1 others(10): Show HG01256.hp1 HG01258.hp1 HG01884.hp1 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0001c0003t0005 a0001c0003t0022	a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0268 others(10): Show a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0268 a0001c0001t0003g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0011g0062 a0001c0001t0021g0290 a0001c0003t0005g0289 a0001c0003t0022g0291	13	269	0.0483	26	c.12+ others(43): Show c.12+16976_12+16977insCTTTCTTTCCTTTCTTTCCTTTCCTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT2_chr12_53098486_53129535	53099745	A A	AAATTAGT others(19): Show AAATTAGTTAATTTTTTAAAATTAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01891.hp1 HG02257.hp1 others(13): Show HG00733.hp1 HG01891.hp1 HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp2 HG03579.hp1 HG04115.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0003c0009 a0004c0006 a0005c0008	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0004t0004 a0003c0009t0007 a0004c0006t0002 a0005c0008t0002	a0001c0001t0001g0147 a0002c0002t0001g0175 a0002c0002t0003g0172 others(12): Show a0001c0001t0001g0147 a0002c0002t0001g0175 a0002c0002t0003g0172 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0004t0004g0221 a0002c0004t0004g0222 a0003c0009t0007g0226 a0003c0009t0007g0252 a0004c0006t0002g0253 a0004c0006t0002g0254 a0005c0008t0002g0041 a0005c0008t0002g0249 a0005c0008t0002g0250 a0005c0008t0002g0251	16	408	0.0392	26	c.-38 others(37): Show c.-3833_-3832insAATTAGTTAATTTTTTAAAATTAAGT	SOAT2	ENSG00000167780.12	transcript	ENST00000301466.8	protein_coding		3740		chr12	TogoVar
SOBP_chr6_107485117_107666306	107564581	A A	AACTAACT others(19): Show AACTAACTAACTAACTAACTAACTAAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02738.hp1 NA20752.hp2 HG01256.hp2 HG02738.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0157 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0157	3	250	0.0120	26	c.574 others(45): Show c.574-22499_574-22498insACTAACTAACTAACTAACTAACTAAC	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	4/6			chr6	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp2 NA20905.hp2 HG01069.hp2 HG01169.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0141 a0001c0001t0002g0058 a0001c0001t0002g0141	3	49	0.0612	26	c.-90 others(43): Show c.-90-1168_-90-1143dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS6_chr18_70284045_70335199	70289313	G G	GCCGGGGA others(19): Show GCCGGGGAACGGGGGCCGGGGCCAGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	356	0.0028	26	c.-12 others(43): Show c.-127+229_-127+254dupGAACGGGGGCCGGGGCCAGTCCCGGG	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr18	TogoVar
SOCS7_chr17_38346844_38410593	38389863	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0025 a0001c0002t0015g0025	1	152	0.0066	26	c.168 others(45): Show c.1682-5445_1682-5444insATATATATATATATATATATATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389906	T T	TATATGTA others(19): Show TATATGTACATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0191 a0001c0001t0019g0191	1	239	0.0042	26	c.168 others(45): Show c.1682-5402_1682-5401insTATGTACATATATATATATATAGAGA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38389906	T T	TATATGTA others(19): Show TATATGTACATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0192 a0001c0001t0031g0192	1	239	0.0042	26	c.168 others(45): Show c.1682-5402_1682-5401insTATGTACATATATATATATATATAGA	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp2 HG03453.hp2 others(7): Show HG02647.hp1 HG03098.hp2 HG03453.hp2 HG03710.hp1 HG03942.hp1 NA18940.hp2 NA18970.hp2 NA18978.hp1 NA19003.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0053 a0001c0001t0001g0188 a0001c0001t0001g0191 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0229 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0004t0001g0245 a0001c0004t0002g0246	10	62	0.1613	26	c.641 others(43): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95365171	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0116 a0001c0002t0014g0116	1	236	0.0042	26	c.195 others(45): Show c.1955+2478_1955+2479insCACACACACACACACACACACACACA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95378737	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18946.hp1 NA19066.hp1 HG02559.hp2 NA18946.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0002 a0002c0006t0002 a0001c0003t0002 a0002c0006t0002	a0001c0003t0002g0246 a0001c0003t0002g0291 a0002c0006t0002g0106 a0001c0003t0002g0246 a0001c0003t0002g0291 a0002c0006t0002g0106	3	61	0.0492	26	c.165 others(45): Show c.1654-2707_1654-2682dupCACACACACACACACACACACACACA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	18/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0050 a0011c0028t0002g0050	1	107	0.0093	26	c.-46 others(45): Show c.-46+23123_-46+23148dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185588587	T T	TCTCCTTC others(19): Show TCTCCTTCCTCCTCCTCCTCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0147 a0001c0011t0003g0147	1	148	0.0068	26	c.384 others(43): Show c.3842-900_3842-899insGAGGAGGGAGGAGGAGGAGGAAGGAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	26/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751172	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(10): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG01243.hp2 HG01261.hp2 HG01993.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 NA18947.hp2 NA18964.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0024 a0001c0001t0040 a0001c0011t0003	a0001c0001t0001g0048 a0001c0001t0001g0252 a0001c0001t0002g0065 others(10): Show a0001c0001t0001g0048 a0001c0001t0001g0252 a0001c0001t0002g0065 a0001c0001t0002g0141 a0001c0001t0002g0150 a0001c0001t0002g0211 a0001c0001t0002g0241 a0001c0001t0002g0263 a0001c0001t0008g0277 a0001c0001t0009g0267 a0001c0001t0024g0251 a0001c0001t0040g0006 a0001c0011t0003g0147	13	211	0.0616	26	c.-96 others(45): Show c.-96-17019_-96-17018insTTTTTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0194 a0001c0001t0008g0194	1	197	0.0051	26	c.-96 others(45): Show c.-96-17037_-96-17036insCTTTTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0072 a0001c0026t0072	a0001c0026t0072g0311 a0001c0026t0072g0311	1	197	0.0051	26	c.-96 others(45): Show c.-96-17037_-96-17036insCTCTTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106878620	G G	GCATATAT others(19): Show GCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0046 a0001c0004t0007g0046	1	36	0.0278	26	c.627 others(45): Show c.627-48948_627-48947insTATATATATATATATATATATATATG	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106878620	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03710.hp1 HG02886.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0031 a0001c0001t0004g0060 a0001c0001t0002g0031 a0001c0001t0004g0060	2	37	0.0541	26	c.627 others(45): Show c.627-48973_627-48948dupTATATATATATATATATATATATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106878646	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0102 a0001c0004t0002g0102	1	108	0.0093	26	c.627 others(45): Show c.627-48974_627-48973insAATATATATATATATATATATATATA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00639.hp1 others(10): Show HG00408.hp2 HG00597.hp1 HG00639.hp1 HG01081.hp1 HG01243.hp1 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02886.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0028 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 a0001c0003t0001 a0001c0003t0002 a0001c0004t0023 a0001c0007t0021 a0001c0028t0002 a0007c0011t0001	a0001c0001t0001g0110 a0001c0001t0002g0084 a0001c0001t0002g0103 others(10): Show a0001c0001t0001g0110 a0001c0001t0002g0084 a0001c0001t0002g0103 a0001c0001t0004g0004 a0001c0001t0018g0085 a0001c0001t0019g0104 a0001c0003t0001g0089 a0001c0003t0001g0100 a0001c0003t0002g0097 a0001c0004t0023g0130 a0001c0007t0021g0113 a0001c0028t0002g0124 a0007c0011t0001g0008	13	57	0.2281	26	c.627 others(45): Show c.627-61832_627-61831insAAAAAAAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7259244	T T	TACCATAC others(19): Show TACCATACTCAATTAAAAAGTGATGCA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02056.hp2 HG02015.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0002 a0001c0001t0008 a0001c0003t0002	a0001c0001t0008g0063 a0001c0003t0002g0073 a0001c0001t0008g0063 a0001c0003t0002g0073	2	168	0.0119	26	c.480 others(45): Show c.480+66120_480+66145dupCCATACTCAATTAAAAAGTGATGCAA	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(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0001 a0006c0045t0001	a0006c0045t0001g0148 a0006c0045t0001g0148	1	31	0.0323	26	c.481 others(45): Show c.481-22809_481-22808insATATATATATATATATATATATTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7612893	T T	TGGGAGGG others(19): Show TGGGAGGGGAACAAGAAGAAGGGCTGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG02970.hp2 others(3): Show HG02257.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG06807.hp1 NA19030.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0005 a0001c0010 others(3): Show a0001c0001 a0001c0005 a0001c0010 a0001c0048 a0001c0053 a0016c0040	a0001c0001t0054 a0001c0005t0003 a0001c0010t0026 others(3): Show a0001c0001t0054 a0001c0005t0003 a0001c0010t0026 a0001c0048t0001 a0001c0053t0001 a0016c0040t0003	a0001c0001t0054g0007 a0001c0005t0003g0101 a0001c0010t0026g0105 others(3): Show a0001c0001t0054g0007 a0001c0005t0003g0101 a0001c0010t0026g0105 a0001c0048t0001g0146 a0001c0053t0001g0044 a0016c0040t0003g0024	6	132	0.0455	26	c.649 others(45): Show c.649-25428_649-25403dupGGAACAAGAAGAAGGGCTGGGGGAGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7612893	T T	TGGGAGGG others(19): Show TGGGAGGGGAACAAGAAGAAGGGTTGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01106.hp1 others(32): Show HG00642.hp2 HG00733.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG03017.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0017 a0001c0034 a0001c0041 a0001c0047 a0002c0004 a0003c0012 a0003c0013 a0005c0018 a0005c0021 a0005c0022 a0007c0027 a0009c0024 a0011c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0021 a0001c0002t0042 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0014 a0001c0003t0023 a0001c0006t0003 a0001c0006t0052 a0001c0017t0002 a0001c0017t0015 a0001c0034t0005 a0001c0041t0006 a0001c0047t0057 a0002c0004t0004 a0002c0004t0012 a0003c0012t0046 a0003c0013t0018 a0003c0013t0030 a0005c0018t0043 a0005c0021t0056 a0005c0022t0033 a0007c0027t0002 a0009c0024t0002 a0011c0023t0009	a0001c0001t0002g0130 a0001c0001t0003g0003 a0001c0001t0004g0053 others(32): Show a0001c0001t0002g0130 a0001c0001t0003g0003 a0001c0001t0004g0053 a0001c0001t0048g0094 a0001c0002t0001g0087 a0001c0002t0001g0143 a0001c0002t0002g0074 a0001c0002t0003g0082 a0001c0002t0008g0121 a0001c0002t0021g0090 a0001c0002t0042g0050 a0001c0003t0009g0135 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0014g0034 a0001c0003t0023g0147 a0001c0006t0003g0117 a0001c0006t0052g0084 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0034t0005g0093 a0001c0041t0006g0031 a0001c0047t0057g0051 a0002c0004t0004g0046 a0002c0004t0012g0035 a0003c0012t0046g0033 a0003c0013t0018g0100 a0003c0013t0030g0041 a0005c0018t0043g0145 a0005c0021t0056g0103 a0005c0022t0033g0153 a0007c0027t0002g0116 a0009c0024t0002g0108 a0011c0023t0009g0122	35	161	0.2174	26	c.649 others(45): Show c.649-25413_649-25412insTTGGGGGAGGGGAACAAGAAGAAGGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7612911	A A	AAGGGCTG others(19): Show AAGGGCTGGGGGAGGGGAACAAGAAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02572.hp1 others(5): Show HG01167.hp1 HG02109.hp1 HG02572.hp1 HG02630.hp1 HG02809.hp2 HG03225.hp1 HG03579.hp1 NA20300.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0010	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0028 a0003c0042 a0003c0046 a0006c0008 a0010c0032	a0001c0001t0013 a0001c0002t0003 a0001c0005t0016 others(5): Show a0001c0001t0013 a0001c0002t0003 a0001c0005t0016 a0001c0028t0027 a0003c0042t0004 a0003c0046t0001 a0006c0008t0006 a0010c0032t0019	a0001c0001t0013g0011 a0001c0002t0003g0028 a0001c0005t0016g0104 others(5): Show a0001c0001t0013g0011 a0001c0002t0003g0028 a0001c0005t0016g0104 a0001c0028t0027g0152 a0003c0042t0004g0066 a0003c0046t0001g0164 a0006c0008t0006g0155 a0010c0032t0019g0149	8	168	0.0476	26	c.649 others(45): Show c.649-25403_649-25402insGGAACAAGAAGGAGGGCTGGGGGAGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7677608	C C	CAGTAGTA others(19): Show CAGTAGTAGACCCTGGGCAGGCTGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp2 HG02809.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0003c0012 a0001c0009 a0003c0012	a0001c0009t0037 a0003c0012t0034 a0001c0009t0037 a0003c0012t0034	a0001c0009t0037g0042 a0003c0012t0034g0010 a0001c0009t0037g0042 a0003c0012t0034g0010	2	168	0.0119	26	c.134 others(45): Show c.1341+1379_1341+1380insAGTAGTAGACCCTGGGCAGGCTGGGA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7685684	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0102 a0001c0005t0005g0102	1	163	0.0061	26	c.148 others(45): Show c.1488+2798_1488+2799insTATATATATATATATATATATATATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01517.hp1 NA19010.hp1 HG00609.hp2 HG01517.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030	3	15	0.2000	26	c.627 others(45): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104794622	G G	GGAGGGAG others(19): Show GGAGGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03516.hp2 HG00642.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0046 a0001c0002t0002g0129 a0001c0001t0001g0046 a0001c0002t0002g0129	2	43	0.0465	26	c.628 others(45): Show c.628-48167_628-48166insGGAGAGAGAGAGAGAGAGAGAGAGAG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940238	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	99	0.0101	26	c.795 others(45): Show c.795+24307_795+24308insATATATATATATATATATATATTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03453.hp1 NA19066.hp2 HG01433.hp1 HG03453.hp1 NA19066.hp2	a0002 a0002	a0002c0005 a0002c0014 a0002c0005 a0002c0014	a0002c0005t0001 a0002c0014t0014 a0002c0005t0001 a0002c0014t0014	a0002c0005t0001g0202 a0002c0005t0001g0205 a0002c0014t0014g0217 a0002c0005t0001g0202 a0002c0005t0001g0205 a0002c0014t0014g0217	3	13	0.2308	26	c.205 others(45): Show c.2051+1991_2051+2016dupAAAAAAAAAAAAAAAAAAAAAAAAAA	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(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02109.hp1 HG02109.hp2 others(14): Show HG00621.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02723.hp2 HG02886.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA18945.hp2 NA18952.hp2 NA18966.hp1 NA18967.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019	a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0079 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0132 a0001c0001t0003g0142 a0001c0001t0003g0156 a0001c0001t0004g0005 a0001c0001t0004g0042 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0007g0111 a0001c0001t0007g0145 a0001c0001t0019g0055	17	66	0.2576	26	c.865 others(43): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp2 HG01255.hp2 others(1): Show HG00323.hp2 HG01175.hp2 HG01255.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0270 a0001c0002t0001g0343 a0001c0005t0001g0353 others(1): Show a0001c0001t0001g0270 a0001c0002t0001g0343 a0001c0005t0001g0353 a0001c0005t0001g0354	4	50	0.0800	26	c.511 others(41): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50209274	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01168.hp2 others(6): Show HG00323.hp1 HG00597.hp2 HG01168.hp2 HG02027.hp1 HG02083.hp2 HG02896.hp1 HG03098.hp2 NA18945.hp1 NA19004.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0012 a0001c0001 a0001c0013 a0004c0012	a0001c0001t0001 a0001c0013t0012 a0004c0012t0001 a0001c0001t0001 a0001c0013t0012 a0004c0012t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0250 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0250 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0299 a0001c0013t0012g0380 a0004c0012t0001g0296	9	42	0.2143	26	c.88- others(41): Show c.88-4891_88-4866dupACACACACACACACACACACACACAC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50219013	T T	TGAGGCAG others(19): Show TGAGGCAGGAGAATCACTTGAACCCGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	380	0.0026	26	c.87+ others(43): Show c.87+12158_87+12183dupCCGGGTTCAAGTGATTCTCCTGCCTC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50234255	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0137 a0001c0003t0005g0137	1	46	0.0217	26	c.-29 others(37): Show c.-2973_-2972insTTTTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding		2678		chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	328	0.0030	26	c.-58 others(35): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX11_chr2_5687384_5706385	5688834	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0000 a0001c0001t0053g0000	1	50	0.0200	26	c.-38 others(37): Show c.-3888_-3887insTGTGTGTGTGTGTGTGTGTGTGTGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		3549		chr2	TogoVar
SOX30_chr5_157620679_157657438	157631051	A A	ATATATAT others(19): Show ATATATATATATACAATATATATATTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01167.hp2 HG01169.hp1 others(8): Show HG01070.hp2 HG01167.hp2 HG01169.hp1 HG02145.hp1 HG02257.hp2 HG02572.hp2 HG02622.hp2 HG02896.hp2 HG03540.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0118 a0001c0001t0002g0119 others(7): Show a0001c0001t0002g0024 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128	11	377	0.0292	26	c.188 others(45): Show c.1881-4331_1881-4330insAAATATATATATTGTATATATATATA	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	121	0.0083	26	c.188 others(45): Show c.1881-5352_1881-5327dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23530798	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 NA18522.hp2 NA18906.hp2 others(4): Show HG00597.hp1 NA18522.hp2 NA18906.hp2 NA18961.hp2 NA18994.hp1 NA19063.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0118 a0001c0002t0005 a0001c0002t0053 a0001c0001t0118 a0001c0002t0005 a0001c0002t0053	a0001c0001t0118g0007 a0001c0002t0005g0013 a0001c0002t0005g0071 others(4): Show a0001c0001t0118g0007 a0001c0002t0005g0013 a0001c0002t0005g0071 a0001c0002t0005g0101 a0001c0002t0005g0125 a0001c0002t0005g0180 a0001c0002t0053g0095	7	84	0.0833	26	c.34 others(37): Show c.3420_*3421insACACACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3420		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGCGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG04115.hp2 HG00738.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0141 a0001c0001t0032g0191 a0001c0001t0032g0141 a0001c0001t0032g0191	2	154	0.0130	26	c.34 others(37): Show c.3400_*3401insGCGCGCGCGCGCACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0011 a0001c0001t0106g0011	1	153	0.0065	26	c.34 others(37): Show c.3400_*3401insGCGCGCGCGCACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0072 a0001c0001t0090g0072	1	153	0.0065	26	c.34 others(37): Show c.3400_*3401insGCGCGCGCACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0032 a0001c0003t0088g0032	1	153	0.0065	26	c.34 others(37): Show c.3400_*3401insGCGCACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp2 HG06807.hp2 HG02132.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0104 a0001c0003t0080 a0001c0001t0104 a0001c0003t0080	a0001c0001t0104g0134 a0001c0003t0080g0183 a0001c0001t0104g0134 a0001c0003t0080g0183	2	154	0.0130	26	c.34 others(37): Show c.3400_*3401insGCACACACACACACACACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23600522	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0094 a0001c0001t0020g0094	1	37	0.0270	26	c.116 others(45): Show c.1164+3839_1164+3864dupATATATATATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704715	T T	TATATATA others(19): Show TATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0176 a0001c0001t0022g0176	1	142	0.0070	26	c.810 others(45): Show c.810+29968_810+29969insGTGTGTGTGTATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16064510	A A	AAAGCCAT others(19): Show AAAGCCATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0031 a0001c0001t0035g0031	1	216	0.0046	26	c.110 others(45): Show c.1102-8635_1102-8610dupCATATATATATATATATGTATGGCTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX8_chr16_976770_991979	977716	C C	CGGAGGGG others(19): Show CGGAGGGGCACAGGGAAGGACGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0010 a0001c0002t0038g0010	1	432	0.0023	26	c.-42 others(37): Show c.-4207_-4206insGGAGGGGCACAGGGAAGGACGGAGAG	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		4053		chr16	TogoVar

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