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
SNX7_chr1_98656721_98765500	98763439	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG06807.hp1 HG03654.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0080 a0001c0001t0001g0026 a0001c0001t0001g0080	2	352	0.0057	25	c.33 others(36): Show c.3308_*3309insTATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2940		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG04228.hp1 others(1): Show HG01167.hp2 HG01169.hp2 HG04228.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0085 a0001c0001t0001g0086 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0206	4	315	0.0127	25	c.33 others(36): Show c.3310_*3311insTATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	234	0.0043	25	c.33 others(36): Show c.3312_*3313insAAAATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02970.hp2 NA20752.hp1 HG00140.hp1 HG02970.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0218 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0218	3	236	0.0127	25	c.33 others(36): Show c.3312_*3313insAATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA19063.hp1 NA19070.hp2 others(2): Show NA18993.hp2 NA19063.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0008t0001g0036	5	238	0.0210	25	c.33 others(36): Show c.3312_*3313insTATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX9_chr6_157818246_157950077	157827031	T T	TATATTAT others(18): Show TATATTATAGTTTATATAATATAAAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0266 a0001c0003t0003g0266	1	160	0.0063	25	c.12+ others(40): Show c.12+3589_12+3590insTATAGTTTATATAATATAAACATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	223	0.0045	25	c.12+ others(42): Show c.12+21153_12+21154insTTTTTTTTTTTTTTTTTTTTTTTTT	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(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0142 a0001c0004t0011g0142	1	38	0.0263	25	c.159 others(42): Show c.1596+275_1596+276insTTTTTTTTTTTTTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS6_chr18_70284045_70335199	70285811	G G	GTTTCTTT others(18): Show GTTTCTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp2 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0005t0011 a0001c0001t0010 a0001c0005t0011	a0001c0001t0010g0188 a0001c0005t0011g0153 a0001c0001t0010g0188 a0001c0005t0011g0153	2	297	0.0067	25	c.-34 others(36): Show c.-3406_-3405insTTTCTTTTCTTTTCTTTTCTTTTCT	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding		3233		chr18	TogoVar
SOGA1_chr20_36772447_36868538	36826351	C C	CCCCCTCT others(18): Show CCCCCTCTCCCTCCCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0147 a0004c0006t0002g0147	1	73	0.0137	25	c.107 others(44): Show c.1071+2702_1071+2703insAGGGGGGAGGGGGGAGGGAGAGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36826351	C C	CCCCCTCT others(18): Show CCCCCTCTCCCTCCCCCTCCCCCCCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0197 a0004c0006t0002g0197	1	73	0.0137	25	c.107 others(44): Show c.1071+2702_1071+2703insAGGGGGGGAGGGGGAGGGAGAGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG03490.hp1 others(5): Show HG02257.hp2 HG02559.hp2 HG03490.hp1 NA18948.hp1 NA18989.hp1 NA19010.hp1 NA19066.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0198 a0001c0001t0001g0267	8	60	0.1333	25	c.641 others(42): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS1_chr10_95306773_95566371	95347441	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02723.hp1 others(7): Show HG02280.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp2 NA18940.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0002 a0001c0003 a0002c0006 others(4): Show a0001c0002 a0001c0003 a0002c0006 a0002c0007 a0003c0010 a0007c0021 a0008c0016	a0001c0002t0001 a0001c0003t0002 a0002c0006t0002 others(4): Show a0001c0002t0001 a0001c0003t0002 a0002c0006t0002 a0002c0007t0002 a0003c0010t0001 a0007c0021t0016 a0008c0016t0002	a0001c0002t0001g0018 a0001c0003t0002g0240 a0002c0006t0002g0075 others(7): Show a0001c0002t0001g0018 a0001c0003t0002g0240 a0002c0006t0002g0075 a0002c0006t0002g0078 a0002c0007t0002g0045 a0003c0010t0001g0163 a0003c0010t0001g0165 a0007c0021t0016g0135 a0007c0021t0016g0145 a0008c0016t0002g0167	10	89	0.1124	25	c.238 others(42): Show c.2383-990_2383-989insAAAAAAAAAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95365218	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	288	0.0035	25	c.195 others(44): Show c.1955+2431_1955+2432insCACACACACACACACACACACACAC	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185709304	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG01891.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0012 a0001c0007t0007 a0001c0006t0012 a0001c0007t0007	a0001c0006t0012g0286 a0001c0007t0007g0070 a0001c0006t0012g0286 a0001c0007t0007g0070	2	146	0.0137	25	c.-40 others(44): Show c.-40-18694_-40-18693insAAAAAAAAAAAAAAAAAAAAAAAAA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751172	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18955.hp1 NA19010.hp1 NA18952.hp1 NA18955.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0160 a0001c0001t0004g0162 a0001c0001t0005g0123 a0001c0001t0001g0160 a0001c0001t0004g0162 a0001c0001t0005g0123	3	201	0.0149	25	c.-96 others(44): Show c.-96-17019_-96-17018insTTTTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	197	0.0051	25	c.-96 others(44): Show c.-96-17037_-96-17036insCTTTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG02615.hp2 others(3): Show HG01433.hp2 HG02258.hp1 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0001c0027	a0001c0001t0010 a0001c0002t0031 a0001c0006t0020 others(2): Show a0001c0001t0010 a0001c0002t0031 a0001c0006t0020 a0001c0013t0010 a0001c0027t0010	a0001c0001t0010g0106 a0001c0002t0031g0033 a0001c0006t0020g0094 others(3): Show a0001c0001t0010g0106 a0001c0002t0031g0033 a0001c0006t0020g0094 a0001c0013t0010g0305 a0001c0013t0010g0306 a0001c0027t0010g0045	6	202	0.0297	25	c.-96 others(44): Show c.-96-17037_-96-17036insCTCTTTTTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG02040.hp2 others(5): Show HG00558.hp1 HG01433.hp1 HG02040.hp2 HG02735.hp1 HG03710.hp1 HG06807.hp1 NA19043.hp1 NA19070.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0011c0016	a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0003t0001 a0011c0016t0002	a0001c0001t0002g0031 a0001c0001t0004g0015 a0001c0001t0004g0079 others(5): Show a0001c0001t0002g0031 a0001c0001t0004g0015 a0001c0001t0004g0079 a0001c0001t0004g0101 a0001c0002t0003g0026 a0001c0002t0003g0032 a0001c0003t0001g0119 a0011c0016t0002g0054	8	52	0.1538	25	c.627 others(44): Show c.627-61832_627-61831insAAAAAAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106944874	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02280.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0003g0042 a0001c0001t0001g0006 a0001c0001t0003g0042	2	74	0.0270	25	c.626 others(44): Show c.626+11614_626+11638dupAAAAAAAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0130 a0001c0004t0023g0130	1	26	0.0385	25	c.559 others(44): Show c.559-78125_559-78101dupTTTTTTTTTTTTTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	31	0.0323	25	c.481 others(44): Show c.481-22809_481-22808insATATATATATATATATATATTTTTT	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(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0006	a0006c0008t0006g0155 a0006c0008t0006g0155	1	31	0.0323	25	c.481 others(44): Show c.481-22809_481-22808insATATATATATATATATATTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448870	C C	CTTTTCCC others(18): Show CTTTTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0019 a0010c0032t0019	a0010c0032t0019g0149 a0010c0032t0019g0149	1	162	0.0062	25	c.548 others(44): Show c.548+52515_548+52516insTTTTCCCTCCCTCCCTCCCTCCCTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7612893	T T	TGGGAGGG others(18): Show TGGGAGGGGAACAAGAAGAAGGTTGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0118 a0001c0006t0002g0118	1	127	0.0079	25	c.649 others(44): Show c.649-25414_649-25413insTTGGGGGAGGGGAACAAGAAGAAGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7650724	C C	CGCCCAGC others(18): Show CGCCCAGCCCAGCCCAGCCCAGCCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0009 a0001c0016t0001g0009	1	14	0.0714	25	c.814 others(42): Show c.814-3381_814-3357dupCAGCCCAGCCCAGCCCAGCCCAGCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696004	T T	TATATAAT others(18): Show TATATAATATATCATATACACATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01070.hp2 others(45): Show HG00140.hp2 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03688.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18941.hp2 NA18943.hp2 NA18970.hp2 NA18988.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19079.hp1 NA19090.hp2	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0004c0008 a0010c0021 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0015t0002 a0004c0008t0001 a0010c0021t0001 a0011c0017t0003	a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0098 others(45): Show a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0001t0010g0127 a0001c0002t0001g0035 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0105 a0001c0002t0002g0053 a0001c0002t0002g0108 a0001c0002t0003g0004 a0001c0002t0003g0070 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0002t0003g0128 a0001c0002t0011g0020 a0001c0003t0001g0119 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0005t0001g0007 a0001c0005t0001g0092 a0001c0015t0002g0130 a0004c0008t0001g0005 a0010c0021t0001g0117 a0011c0017t0003g0088	48	134	0.3582	25	c.627 others(44): Show c.627+54055_627+54056insATATATCATATACACATATAATATA	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(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0004 a0013c0016t0004	a0013c0016t0004g0067 a0013c0016t0004g0067	1	13	0.0769	25	c.627 others(44): Show c.627+93523_627+93524insTTTTTTTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104794622	G G	GGAGGAGA others(18): Show GGAGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	42	0.0238	25	c.628 others(44): Show c.628-48167_628-48166insGAGAGAGAGAGAGAGAGAGAGAGAG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242807	T T	TTATATAT others(18): Show TTATATATATTTTTATATATAAATTA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0108	1	97	0.0103	25	c.286 others(44): Show c.2869-2678_2869-2654dupTATTTTTATATATAAATTATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0221 a0002c0007t0001g0221	1	11	0.0909	25	c.205 others(44): Show c.2051+1992_2051+2016dupAAAAAAAAAAAAAAAAAAAAAAAAA	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(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp2 HG01884.hp2 others(13): Show HG00621.hp2 HG01361.hp2 HG01884.hp2 HG02572.hp2 HG02622.hp2 HG02886.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03688.hp1 NA18973.hp1 NA18986.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0031 a0001c0001t0035	a0001c0001t0001g0068 a0001c0001t0001g0093 a0001c0001t0001g0095 others(13): Show a0001c0001t0001g0068 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0003g0023 a0001c0001t0003g0098 a0001c0001t0003g0113 a0001c0001t0003g0155 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0007g0112 a0001c0001t0016g0044 a0001c0001t0031g0133 a0001c0001t0035g0189	16	65	0.2462	25	c.865 others(42): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50135089	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0355 a0001c0005t0001g0355	1	279	0.0036	25	c.295 others(42): Show c.2959-851_2959-850insCTTTCTTTCTTTCTTTCTTTCTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	18/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp1 NA18612.hp1 others(3): Show HG01261.hp1 HG01496.hp1 NA18612.hp1 NA18952.hp1 NA18953.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0243 others(3): Show a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0266 a0001c0003t0001g0349	6	52	0.1154	25	c.511 others(40): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA19030.hp2 HG02572.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0000 a0001c0003t0003g0000	2	329	0.0061	25	c.-58 others(34): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	12	0.0833	25	c.116 others(44): Show c.1165-2304_1165-2280dupTTTTTTTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0192 a0001c0001t0093g0192	1	5	0.2000	25	c.811 others(42): Show c.811-8773_811-8772insAAAAAAAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23715292	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18942.hp2 HG04184.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0029 a0001c0001t0017 a0001c0001t0029	a0001c0001t0017g0028 a0001c0001t0029g0143 a0001c0001t0017g0028 a0001c0001t0029g0143	2	128	0.0156	25	c.810 others(44): Show c.810+19367_810+19391dupATTTTATTTTATTTTATTTTATTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16130738	A A	ATTTAGGT others(18): Show ATTTAGGTATTAGGATGGTATTGGTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	216	0.0046	25	c.778 others(44): Show c.778-18840_778-18816dupAACCAATACCATCCTAATACCTAAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230497488	G G	GGAGGAGA others(18): Show GGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02129.hp2 HG02451.hp2 others(1): Show HG01106.hp1 HG02129.hp2 HG02451.hp2 HG03471.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0015 a0001c0001 a0002c0005 a0004c0015	a0001c0001t0004 a0002c0005t0013 a0004c0015t0004 a0001c0001t0004 a0002c0005t0013 a0004c0015t0004	a0001c0001t0004g0050 a0001c0001t0004g0176 a0002c0005t0013g0106 others(1): Show a0001c0001t0004g0050 a0001c0001t0004g0176 a0002c0005t0013g0106 a0004c0015t0004g0154	4	205	0.0195	25	c.164 others(42): Show c.1646-937_1646-913dupGAGGAGAGGAGAGGAGAGGAGAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497529	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0139 a0001c0003t0003g0139	1	264	0.0038	25	c.164 others(42): Show c.1646-928_1646-927insAAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19055.hp2 HG04184.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0056 a0001c0001t0003g0029 a0001c0001t0003g0056	2	198	0.0101	25	c.164 others(42): Show c.1646-923_1646-922insAAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497539	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03239.hp1 HG02148.hp2 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0077 a0003c0004t0003g0114 a0001c0001t0003g0077 a0003c0004t0003g0114	2	227	0.0088	25	c.164 others(42): Show c.1646-918_1646-917insAAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp2 HG03491.hp2 HG00140.hp1 HG01884.hp2 HG03491.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0004 a0004c0006t0004 a0001c0001t0004 a0004c0006t0004	a0001c0001t0004g0270 a0004c0006t0004g0182 a0004c0006t0004g0238 a0001c0001t0004g0270 a0004c0006t0004g0182 a0004c0006t0004g0238	3	145	0.0207	25	c.164 others(42): Show c.1646-867_1646-843dupAAGGAAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230548366	T T	TATCCAGA others(18): Show TATCCAGAGTACTTGGGAGCTTGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	288	0.0035	25	c.54 others(36): Show c.5420_*5421insATCCAGAGTACTTGGGAGCTTGAAG	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding		2761		chr2	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01346.hp2 HG01993.hp2 others(4): Show HG01167.hp2 HG01346.hp2 HG01993.hp2 HG02559.hp2 NA18965.hp1 NA18979.hp2 NA19067.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0022 others(1): Show a0001c0001 a0002c0002 a0002c0022 a0003c0003	a0001c0001t0001 a0002c0002t0005 a0002c0022t0001 others(1): Show a0001c0001t0001 a0002c0002t0005 a0002c0022t0001 a0003c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0128 a0001c0001t0001g0138 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0128 a0001c0001t0001g0138 a0002c0002t0005g0178 a0002c0022t0001g0156 a0003c0003t0001g0015 a0003c0003t0001g0147	7	276	0.0254	25	c.108 others(42): Show c.108-2908_108-2907insAAAGAAAGAAAAGAAAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	4	0.2500	25	c.23 others(36): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01346.hp1 HG01978.hp2 others(7): Show HG00544.hp1 HG01346.hp1 HG01978.hp2 HG02155.hp1 NA18955.hp2 NA18965.hp2 NA18978.hp1 NA18985.hp2 NA19077.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0141 a0007c0007t0001g0068	10	15	0.6667	25	c.23 others(36): Show c.2386_*2410dupTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448786	C C	CCCCTTCC others(18): Show CCCCTTCCCTTCCCTTCCCTTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG03710.hp2 NA18965.hp1 others(3): Show HG00558.hp1 HG03710.hp2 NA18965.hp1 NA18973.hp1 NA18974.hp1 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0107 a0002c0002t0001g0003 a0002c0002t0001g0107	6	165	0.0364	25	c.19 others(36): Show c.1926_*1927insAAGGGAAGGGAAGGGAAGGGAAGGG	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		1816		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213869264	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19000.hp2 HG01496.hp1 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0028 a0003c0003t0001g0047 a0003c0003t0001g0028 a0003c0003t0001g0047	2	47	0.0426	25	c.121 others(44): Show c.1214+6637_1214+6638insAAATATATATATATATATATACGTA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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