Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SORBS1_chr10_95306773_95566371	95365218	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18946.hp2 NA18995.hp1 HG03669.hp2 NA18946.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0013 a0001c0001 a0001c0002 a0002c0013	a0001c0001t0004 a0001c0002t0001 a0002c0013t0006 a0001c0001t0004 a0001c0002t0001 a0002c0013t0006	a0001c0001t0004g0120 a0001c0002t0001g0124 a0002c0013t0006g0074 a0001c0001t0004g0120 a0001c0002t0001g0124 a0002c0013t0006g0074	3	290	0.0103	19	c.195 others(38): Show c.1955+2431_1955+2432insCACACACACACACACACAC	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19084.hp1 HG01071.hp2 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0006 a0001c0012t0004 a0001c0003t0006 a0001c0012t0004	a0001c0003t0006g0179 a0001c0012t0004g0175 a0001c0003t0006g0179 a0001c0012t0004g0175	2	108	0.0185	19	c.-46 others(38): Show c.-46+23130_-46+23148dupAAAAAAAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95560662	G G	GGGGCACG others(12): Show GGGGCACGGGCGGCACGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG02040.hp2 others(14): Show HG00639.hp1 HG00735.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 NA18944.hp2 NA18953.hp2 NA18955.hp1 NA18980.hp2 NA18993.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0024 a0003c0005 a0003c0010 a0003c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0004t0004 a0001c0004t0009 a0001c0024t0003 a0003c0005t0005 a0003c0005t0028 a0003c0010t0001 a0003c0020t0005	a0001c0001t0001g0155 a0001c0001t0003g0154 a0001c0001t0003g0157 others(14): Show a0001c0001t0001g0155 a0001c0001t0003g0154 a0001c0001t0003g0157 a0001c0001t0004g0159 a0001c0002t0001g0151 a0001c0003t0001g0166 a0001c0003t0006g0158 a0001c0004t0004g0156 a0001c0004t0009g0160 a0001c0004t0009g0161 a0001c0024t0003g0150 a0003c0005t0005g0152 a0003c0005t0028g0153 a0003c0010t0001g0163 a0003c0010t0001g0164 a0003c0010t0001g0165 a0003c0020t0005g0162	17	298	0.0570	19	c.-13 others(36): Show c.-132+639_-132+657dupGCCCGTGCCGCCCGTGCCC	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	1/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185709304	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(28): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01358.hp2 HG01975.hp1 HG01993.hp1 HG02040.hp1 HG02129.hp2 HG02273.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18983.hp1 NA19057.hp2 NA19085.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0005c0019 a0010c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0040 a0001c0001t0055 a0001c0001t0075 a0001c0002t0002 a0001c0011t0001 a0005c0019t0032 a0010c0039t0003	a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0153 others(28): Show a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0153 a0001c0001t0001g0192 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0148 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0241 a0001c0001t0002g0261 a0001c0001t0003g0144 a0001c0001t0003g0242 a0001c0001t0005g0061 a0001c0001t0009g0050 a0001c0001t0009g0228 a0001c0001t0009g0239 a0001c0001t0013g0155 a0001c0001t0015g0268 a0001c0001t0024g0251 a0001c0001t0040g0006 a0001c0001t0055g0052 a0001c0001t0075g0076 a0001c0002t0002g0131 a0001c0011t0001g0059 a0005c0019t0032g0245 a0010c0039t0003g0312	31	175	0.1771	19	c.-40 others(38): Show c.-40-18694_-40-18693insAAAAAAAAAAAAAAAAAAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185709304	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG01255.hp2 others(12): Show HG00408.hp2 HG00642.hp1 HG01255.hp2 HG02165.hp2 HG03041.hp2 HG03239.hp2 HG03688.hp2 HG03831.hp2 HG04204.hp1 NA18941.hp1 NA18952.hp2 NA18966.hp2 NA18977.hp2 NA18982.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0062 a0001c0018t0002	a0001c0001t0001g0129 a0001c0001t0001g0175 a0001c0001t0001g0240 others(12): Show a0001c0001t0001g0129 a0001c0001t0001g0175 a0001c0001t0001g0240 a0001c0001t0002g0301 a0001c0001t0003g0161 a0001c0001t0004g0074 a0001c0001t0011g0307 a0001c0001t0014g0029 a0001c0001t0017g0102 a0001c0001t0017g0276 a0001c0001t0023g0119 a0001c0001t0025g0180 a0001c0001t0028g0114 a0001c0001t0062g0127 a0001c0018t0002g0237	15	159	0.0943	19	c.-40 others(38): Show c.-40-18712_-40-18694dupAAAAAAAAAAAAAAAAAAA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02615.hp1 others(3): Show HG02145.hp2 HG02572.hp2 HG02615.hp1 HG02895.hp1 HG03209.hp2 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0004 a0001c0001t0016 a0001c0001t0020 others(2): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 a0004c0016t0021	a0001c0001t0004g0293 a0001c0001t0016g0031 a0001c0001t0020g0046 others(3): Show a0001c0001t0004g0293 a0001c0001t0016g0031 a0001c0001t0020g0046 a0001c0001t0027g0019 a0001c0001t0027g0039 a0004c0016t0021g0226	6	202	0.0297	19	c.-96 others(38): Show c.-96-17037_-96-17036insCTTTTTTTTTTTTTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS3_chr8_22546927_22580788	22561640	T T	TCATCACC others(12): Show TCATCACCTACTCGGAGTTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	428	0.0023	19	c.518 others(34): Show c.518-224_518-206dupCATCACCTACTCGGAGTTG	SORBS3	ENSG00000120896.14	transcript	ENST00000240123.12	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
SORCS1_chr10_106568663_107169706	106694194	G G	GAGCACTC others(12): Show GAGCACTCTCCTCCTCAAAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0051 a0001c0002t0006g0051	1	130	0.0077	19	c.141 others(38): Show c.1413+5001_1413+5019dupGTTTGAGGAGGAGAGTGCT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	9/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106944874	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0057 a0001c0002t0006g0057	1	73	0.0137	19	c.626 others(38): Show c.626+11620_626+11638dupAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106963110	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0050 a0002c0006t0001g0050	1	26	0.0385	19	c.559 others(36): Show c.559-6549_559-6531dupAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106970336	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0043 a0001c0002t0004g0043	1	40	0.0250	19	c.559 others(38): Show c.559-13775_559-13757dupAAAAAAAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	26	0.0385	19	c.559 others(38): Show c.559-78119_559-78101dupTTTTTTTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107065510	C C	CTCCTCTC others(12): Show CTCCTCTCCTCTCCTCTCTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02258.hp2 NA18995.hp1 others(1): Show HG02040.hp2 HG02258.hp2 NA18995.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0022 a0001c0001 a0001c0003 a0001c0022	a0001c0001t0004 a0001c0003t0001 a0001c0022t0001 a0001c0001t0004 a0001c0003t0001 a0001c0022t0001	a0001c0001t0004g0101 a0001c0003t0001g0116 a0001c0003t0001g0117 others(1): Show a0001c0001t0004g0101 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0022t0001g0010	4	59	0.0678	19	c.558 others(38): Show c.558+98458_558+98459insAAGAGAGGAGAGGAGAGGA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7295018	T T	TCTCCTCT others(12): Show TCTCCTCTCCCTCCTCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(61): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0012 a0013 a0016	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0001c0017 a0001c0029 a0001c0033 a0001c0038 a0001c0047 a0001c0049 a0001c0053 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0035 a0003c0042 a0003c0046 a0004c0007 a0004c0043 a0004c0044 a0005c0021 a0005c0022 a0006c0008 a0006c0045 a0008c0056 a0010c0032 a0012c0039 a0013c0055 a0016c0040	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(51): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0029 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0039 a0001c0002t0042 a0001c0002t0044 a0001c0003t0002 a0001c0003t0011 a0001c0003t0014 a0001c0003t0015 a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0005t0008 a0001c0006t0002 a0001c0010t0060 a0001c0015t0011 a0001c0017t0002 a0001c0029t0061 a0001c0033t0062 a0001c0038t0032 a0001c0047t0057 a0001c0049t0001 a0001c0053t0001 a0002c0004t0004 a0002c0004t0007 a0002c0004t0009 a0002c0004t0022 a0002c0004t0047 a0002c0050t0023 a0003c0012t0034 a0003c0012t0046 a0003c0013t0030 a0003c0035t0008 a0003c0042t0004 a0003c0046t0001 a0004c0007t0001 a0004c0043t0031 a0004c0044t0041 a0005c0021t0056 a0005c0022t0033 a0006c0008t0001 a0006c0045t0001 a0008c0056t0018 a0010c0032t0019 a0012c0039t0049 a0013c0055t0006 a0016c0040t0003	a0001c0001t0002g0089 a0001c0001t0003g0097 a0001c0001t0003g0138 others(61): Show a0001c0001t0002g0089 a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0003g0168 a0001c0001t0004g0098 a0001c0001t0005g0085 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0029g0141 a0001c0002t0002g0069 a0001c0002t0002g0133 a0001c0002t0004g0131 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0039g0070 a0001c0002t0042g0050 a0001c0002t0044g0019 a0001c0003t0002g0079 a0001c0003t0011g0080 a0001c0003t0014g0140 a0001c0003t0015g0091 a0001c0005t0001g0156 a0001c0005t0003g0032 a0001c0005t0006g0157 a0001c0005t0008g0154 a0001c0006t0002g0118 a0001c0006t0002g0165 a0001c0010t0060g0167 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0017t0002g0056 a0001c0029t0061g0162 a0001c0033t0062g0160 a0001c0038t0032g0128 a0001c0047t0057g0051 a0001c0049t0001g0059 a0001c0053t0001g0044 a0002c0004t0004g0012 a0002c0004t0004g0046 a0002c0004t0007g0136 a0002c0004t0009g0078 a0002c0004t0022g0057 a0002c0004t0047g0134 a0002c0050t0023g0132 a0003c0012t0034g0010 a0003c0012t0046g0033 a0003c0013t0030g0041 a0003c0035t0008g0075 a0003c0042t0004g0066 a0003c0046t0001g0164 a0004c0007t0001g0126 a0004c0043t0031g0058 a0004c0044t0041g0016 a0005c0021t0056g0103 a0005c0022t0033g0153 a0006c0008t0001g0006 a0006c0008t0001g0029 a0006c0045t0001g0148 a0008c0056t0018g0061 a0010c0032t0019g0149 a0012c0039t0049g0064 a0013c0055t0006g0150 a0016c0040t0003g0024	64	166	0.3855	19	c.481 others(40): Show c.481-101251_481-101233dupCCTCCTCTCCCTCCTCCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7351709	C C	CCATCCAT others(12): Show CCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0019 a0010c0032t0019	a0010c0032t0019g0149 a0010c0032t0019g0149	1	110	0.0091	19	c.481 others(38): Show c.481-44578_481-44577insATCCATCCATCCATCCATC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403997	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0073 a0001c0003t0002g0073	1	146	0.0068	19	c.548 others(36): Show c.548+7643_548+7644insATATATATATATATATATT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403998	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0025 a0001c0031t0025	a0001c0031t0025g0144 a0001c0031t0025g0144	1	150	0.0067	19	c.548 others(36): Show c.548+7643_548+7644insATATATATATATATATATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448891	C C	CCTTCCTC others(12): Show CCTTCCTCTCTTTTCCCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0001 a0003c0046t0001	a0003c0046t0001g0164 a0003c0046t0001g0164	1	168	0.0060	19	c.548 others(38): Show c.548+52538_548+52539insTCCTCTCTTTTCCCTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7525849	G G	GCAGTCAC others(12): Show GCAGTCACCTGGGCCCTCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0115 a0001c0002t0053g0115	1	52	0.0192	19	c.549 others(36): Show c.549-5671_549-5670insGGCCCTCCTCAGTCACCTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7525849	G G	GCAGTCAC others(12): Show GCAGTCACCTGTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(113): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19030.hp1 NA19066.hp1 NA19066.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(35): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0026 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0001c0034 a0001c0037 a0001c0038 a0001c0047 a0001c0049 a0001c0051 a0001c0053 a0002c0004 a0003c0012 a0003c0035 a0003c0046 a0004c0007 a0005c0018 a0006c0008 a0007c0027 a0008c0056 a0009c0024 a0010c0032 a0011c0023 a0012c0039 a0013c0055 a0015c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(87): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0029 a0001c0001t0036 a0001c0001t0048 a0001c0001t0055 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0021 a0001c0002t0035 a0001c0002t0038 a0001c0002t0039 a0001c0002t0044 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0005t0003 a0001c0005t0005 a0001c0005t0006 a0001c0005t0008 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0052 a0001c0009t0001 a0001c0009t0028 a0001c0010t0026 a0001c0010t0059 a0001c0011t0015 a0001c0011t0045 a0001c0015t0011 a0001c0016t0001 a0001c0016t0006 a0001c0017t0002 a0001c0017t0015 a0001c0026t0004 a0001c0029t0061 a0001c0030t0021 a0001c0031t0025 a0001c0033t0062 a0001c0034t0005 a0001c0037t0017 a0001c0038t0032 a0001c0047t0057 a0001c0049t0001 a0001c0051t0001 a0001c0053t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0004t0009 a0002c0004t0012 a0002c0004t0022 a0002c0004t0047 a0003c0012t0046 a0003c0035t0008 a0003c0046t0001 a0004c0007t0001 a0005c0018t0043 a0006c0008t0001 a0006c0008t0006 a0007c0027t0002 a0008c0056t0018 a0009c0024t0002 a0010c0032t0019 a0011c0023t0009 a0012c0039t0049 a0013c0055t0006 a0015c0054t0020	a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0130 others(113): Show a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0130 a0001c0001t0003g0003 a0001c0001t0003g0138 a0001c0001t0003g0168 a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0098 a0001c0001t0005g0014 a0001c0001t0005g0085 a0001c0001t0006g0125 a0001c0001t0007g0055 a0001c0001t0007g0111 a0001c0001t0008g0063 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0013g0011 a0001c0001t0013g0099 a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0001t0029g0141 a0001c0001t0036g0106 a0001c0001t0048g0094 a0001c0001t0055g0092 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0082 a0001c0002t0004g0131 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0008g0121 a0001c0002t0010g0045 a0001c0002t0011g0112 a0001c0002t0021g0090 a0001c0002t0035g0020 a0001c0002t0038g0096 a0001c0002t0039g0070 a0001c0002t0044g0019 a0001c0003t0001g0081 a0001c0003t0002g0079 a0001c0003t0004g0088 a0001c0003t0009g0135 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0014g0140 a0001c0003t0015g0091 a0001c0003t0016g0023 a0001c0005t0003g0101 a0001c0005t0005g0102 a0001c0005t0006g0157 a0001c0005t0008g0065 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0006t0002g0165 a0001c0006t0003g0117 a0001c0006t0052g0084 a0001c0009t0001g0151 a0001c0009t0028g0038 a0001c0010t0026g0105 a0001c0010t0059g0163 a0001c0011t0015g0077 a0001c0011t0045g0107 a0001c0015t0011g0015 a0001c0016t0001g0009 a0001c0016t0006g0039 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0026t0004g0049 a0001c0029t0061g0162 a0001c0030t0021g0109 a0001c0031t0025g0144 a0001c0033t0062g0160 a0001c0034t0005g0093 a0001c0037t0017g0017 a0001c0038t0032g0128 a0001c0047t0057g0051 a0001c0049t0001g0059 a0001c0051t0001g0068 a0001c0053t0001g0044 a0002c0004t0002g0013 a0002c0004t0004g0012 a0002c0004t0004g0046 a0002c0004t0004g0095 a0002c0004t0005g0083 a0002c0004t0005g0110 a0002c0004t0007g0136 a0002c0004t0009g0060 a0002c0004t0009g0078 a0002c0004t0012g0035 a0002c0004t0022g0057 a0002c0004t0022g0114 a0002c0004t0047g0134 a0003c0012t0046g0033 a0003c0035t0008g0075 a0003c0046t0001g0164 a0004c0007t0001g0026 a0005c0018t0043g0145 a0006c0008t0001g0006 a0006c0008t0001g0029 a0006c0008t0006g0155 a0007c0027t0002g0116 a0008c0056t0018g0061 a0009c0024t0002g0108 a0010c0032t0019g0149 a0011c0023t0009g0122 a0012c0039t0049g0064 a0013c0055t0006g0150 a0015c0054t0020g0113	116	167	0.6946	19	c.549 others(36): Show c.549-5649_549-5631dupCCCTCCTCAGTCACCTGTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724857	T T	TGATAGTA others(12): Show TGATAGTATTGGTGGGAATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01175.hp2 others(12): Show HG00639.hp1 HG01106.hp2 HG01175.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02970.hp2 HG03239.hp2 HG03540.hp1 HG04199.hp1 NA18966.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0002c0004 a0004c0043 a0014c0052	a0001c0001t0003 a0001c0001t0012 a0001c0002t0003 others(8): Show a0001c0001t0003 a0001c0001t0012 a0001c0002t0003 a0001c0002t0010 a0001c0003t0011 a0001c0005t0003 a0001c0006t0003 a0001c0011t0003 a0002c0004t0022 a0004c0043t0031 a0014c0052t0003	a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0012g0036 others(12): Show a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0002t0003g0018 a0001c0002t0003g0082 a0001c0002t0010g0045 a0001c0003t0011g0080 a0001c0005t0003g0101 a0001c0006t0003g0117 a0001c0011t0003g0120 a0002c0004t0022g0057 a0004c0043t0031g0058 a0014c0052t0003g0030	15	139	0.1079	19	c.261 others(36): Show c.2612-294_2612-293insAGTATTGGTGGGAATGGAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19090.hp2 HG01175.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0002g0093 a0001c0001t0001g0040 a0001c0001t0002g0093	2	7	0.2857	19	c.627 others(38): Show c.627+29380_627+29398dupTTTTTTTTTTTTTTTTTTT	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(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0127 a0001c0001t0010g0127	1	13	0.0769	19	c.627 others(38): Show c.627+93505_627+93523dupTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104817393	T T	TCCTTCCC others(12): Show TCCTTCCCCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG03225.hp2 HG02647.hp2 HG02965.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0051 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0002t0001g0051 a0001c0003t0003g0054 a0001c0003t0003g0055	3	134	0.0224	19	c.628 others(38): Show c.628-25380_628-25362dupCCCTTCCCCCTCCTCCTCC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940239	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0047 a0001c0006t0004g0047	1	129	0.0078	19	c.795 others(38): Show c.795+24307_795+24308insATATATATATATATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105003998	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	57	0.0175	19	c.954 others(38): Show c.954+26506_954+26507insTTTTTTTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105016155	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02976.hp2 HG01358.hp1 HG02976.hp2	a0001 a0012 a0001 a0012	a0001c0005 a0012c0012 a0001c0005 a0012c0012	a0001c0005t0001 a0012c0012t0001 a0001c0005t0001 a0012c0012t0001	a0001c0005t0001g0007 a0012c0012t0001g0003 a0001c0005t0001g0007 a0012c0012t0001g0003	2	67	0.0299	19	c.955 others(38): Show c.955-26899_955-26898insATATATATATATATATATT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121463608	T T	TCACTACT others(12): Show TCACTACTTAGTCCACTAAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp1 HG02559.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0060 a0001c0004 a0001c0060	a0001c0004t0003 a0001c0060t0003 a0001c0004t0003 a0001c0060t0003	a0001c0004t0003g0224 a0001c0060t0003g0163 a0001c0004t0003g0224 a0001c0060t0003g0163	2	270	0.0074	19	c.286 others(36): Show c.286-6398_286-6397insACTACTTAGTCCACTAACC	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121540522	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00642.hp1 others(43): Show HG00280.hp2 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp2 HG02080.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp2 HG02559.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 NA18612.hp1 NA18942.hp2 NA18951.hp1 NA18959.hp2 NA18969.hp2 NA18974.hp1 NA18983.hp2 NA18999.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19068.hp1 NA19077.hp1 NA19085.hp2 NA19091.hp2 NA20805.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0010 a0012	a0001c0002 a0001c0003 a0001c0004 others(16): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0022 a0001c0040 a0001c0060 a0002c0005 a0002c0007 a0002c0014 a0002c0026 a0002c0030 a0004c0017 a0007c0043 a0010c0044 a0012c0050	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(25): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0008t0004 a0001c0010t0002 a0001c0011t0012 a0001c0011t0021 a0001c0022t0008 a0001c0040t0001 a0001c0060t0003 a0002c0005t0009 a0002c0005t0019 a0002c0007t0001 a0002c0007t0017 a0002c0014t0002 a0002c0014t0014 a0002c0026t0005 a0002c0030t0002 a0004c0017t0001 a0004c0017t0002 a0007c0043t0026 a0010c0044t0002 a0012c0050t0002	a0001c0002t0001g0112 a0001c0002t0001g0235 a0001c0002t0003g0150 others(42): Show a0001c0002t0001g0112 a0001c0002t0001g0235 a0001c0002t0003g0150 a0001c0002t0004g0233 a0001c0002t0006g0001 a0001c0002t0006g0014 a0001c0002t0006g0104 a0001c0002t0006g0218 a0001c0003t0002g0094 a0001c0003t0002g0098 a0001c0003t0002g0115 a0001c0003t0002g0135 a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0004t0001g0082 a0001c0004t0001g0110 a0001c0004t0002g0134 a0001c0006t0001g0157 a0001c0008t0004g0005 a0001c0010t0002g0234 a0001c0011t0012g0242 a0001c0011t0021g0243 a0001c0022t0008g0211 a0001c0040t0001g0137 a0001c0060t0003g0163 a0002c0005t0009g0041 a0002c0005t0019g0062 a0002c0007t0001g0060 a0002c0007t0001g0073 a0002c0007t0001g0124 a0002c0007t0001g0221 a0002c0007t0017g0122 a0002c0007t0017g0123 a0002c0014t0002g0172 a0002c0014t0014g0217 a0002c0014t0014g0252 a0002c0026t0005g0161 a0002c0026t0005g0245 a0002c0030t0002g0212 a0004c0017t0001g0240 a0004c0017t0002g0237 a0007c0043t0026g0215 a0010c0044t0002g0069 a0012c0050t0002g0180	46	71	0.6479	19	c.168 others(38): Show c.1686-3012_1686-3011insAAAAAAAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	12/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109386822	G G	GTGTACCT others(12): Show GTGTACCTATCACATTTCAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	238	0.0042	19	c.306 others(38): Show c.306+10764_306+10765insGTGAAATGTGATAGGTACA	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA20905.hp1 NA18949.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0003g0021 a0001c0001t0001g0087 a0001c0001t0003g0021	2	51	0.0392	19	c.865 others(36): Show c.865-3233_865-3232insTTTTTTTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39046495	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0111 a0001c0001t0007g0111	1	9	0.1111	19	c.864 others(36): Show c.864+4630_864+4648dupAAAAAAAAAAAAAAAAAAA	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0358 a0001c0001t0001g0358	1	47	0.0213	19	c.511 others(34): Show c.511-632_511-631insTTTTTTTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOSTDC1_chr7_16456481_16470738	16468134	A A	AGAGTTTT others(12): Show AGAGTTTTTATTTTACTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	420	0.0024	19	c.-24 others(30): Show c.-2467_-2466insAAAAGTAAAATAAAAACTC	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		2397		chr7	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	328	0.0030	19	c.-58 others(28): Show c.-586_-585insAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX11_chr2_5687384_5706385	5688867	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0000 a0001c0001t0024g0000	1	428	0.0023	19	c.-38 others(30): Show c.-3855_-3854insGTGTGTGTGTGTGTGTGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		3516		chr2	TogoVar
SOX13_chr1_204068115_204132743	204129987	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0037 a0001c0001t0011g0037	1	38	0.0263	19	c.38 others(30): Show c.3853_*3854insGGGGGGGGGGGGGGGGGGG	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding		2245		chr1	TogoVar
SOX18_chr20_64042582_64054639	64042792	G G	GGGGTCGT others(12): Show GGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0016	1	350	0.0029	19	c.53 others(30): Show c.5373_*5374insGCCCCGTCCCCCACGACCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4789		chr20	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG01243.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0150 a0001c0001t0017g0151 a0001c0001t0001g0150 a0001c0001t0017g0151	2	13	0.1538	19	c.116 others(38): Show c.1165-2298_1165-2280dupTTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23603447	T T	TATATATA others(12): Show TATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0102 a0001c0001t0015g0102	1	184	0.0054	19	c.116 others(36): Show c.1164+939_1164+940insTTTATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23737747	C C	CTCCTGCC others(12): Show CTCCTGCCTCCCAAGGATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01891.hp2 others(8): Show HG01168.hp1 HG01169.hp1 HG01891.hp2 HG02257.hp1 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03486.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0001t0031 a0001c0001t0034 a0001c0001t0049 a0001c0001t0060 a0001c0001t0113 a0001c0001t0121	a0001c0001t0001g0155 a0001c0001t0007g0164 a0001c0001t0007g0165 others(8): Show a0001c0001t0001g0155 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0016g0088 a0001c0001t0020g0181 a0001c0001t0031g0031 a0001c0001t0034g0122 a0001c0001t0049g0021 a0001c0001t0060g0156 a0001c0001t0113g0008 a0001c0001t0121g0186	11	210	0.0524	19	c.742 others(36): Show c.742-3014_742-2996dupATATCCTTGGGAGGCAGGA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	5/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23872164	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02895.hp2 others(2): Show HG02486.hp2 HG02559.hp2 HG02895.hp2 HG03491.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0022 a0001c0001t0079 a0001c0001t0096	a0001c0001t0001g0196 a0001c0001t0011g0144 a0001c0001t0022g0176 others(2): Show a0001c0001t0001g0196 a0001c0001t0011g0144 a0001c0001t0022g0176 a0001c0001t0079g0197 a0001c0001t0096g0074	5	90	0.0556	19	c.270 others(38): Show c.270+23610_270+23628dupAAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SP110_chr2_230160186_230224984	230198123	T T	TGGAAGTC others(12): Show TGGAAGTCCTTTGTAGGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00597.hp1 others(77): Show HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01943.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18959.hp2 NA18960.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19065.hp2 NA19076.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0007 a0008 a0010 a0011 a0013 a0017 a0028 a0029	a0001c0001 a0001c0007 a0001c0034 others(15): Show a0001c0001 a0001c0007 a0001c0034 a0004c0012 a0005c0006 a0005c0010 a0007c0008 a0007c0038 a0008c0011 a0010c0009 a0011c0014 a0011c0049 a0013c0016 a0017c0026 a0017c0032 a0017c0033 a0028c0039 a0029c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0048 a0001c0007t0009 a0001c0007t0014 a0001c0007t0047 a0001c0034t0035 a0004c0012t0013 a0004c0012t0028 a0004c0012t0056 a0005c0006t0001 a0005c0006t0005 a0005c0006t0012 a0005c0006t0018 a0005c0006t0081 a0005c0010t0014 a0007c0008t0006 a0007c0008t0037 a0007c0008t0088 a0007c0008t0090 a0007c0038t0001 a0008c0011t0001 a0008c0011t0002 a0008c0011t0006 a0008c0011t0014 a0008c0011t0028 a0008c0011t0029 a0010c0009t0001 a0010c0009t0002 a0010c0009t0005 a0010c0009t0019 a0010c0009t0034 a0010c0009t0092 a0011c0014t0008 a0011c0049t0055 a0013c0016t0004 a0013c0016t0020 a0013c0016t0054 a0017c0026t0013 a0017c0032t0032 a0017c0033t0032 a0028c0039t0003 a0029c0048t0036	a0001c0001t0001g0159 a0001c0001t0001g0263 a0001c0001t0001g0264 others(68): Show a0001c0001t0001g0159 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0328 a0001c0001t0002g0262 a0001c0001t0019g0082 a0001c0001t0021g0182 a0001c0001t0021g0267 a0001c0001t0025g0371 a0001c0001t0048g0266 a0001c0007t0009g0194 a0001c0007t0014g0195 a0001c0007t0014g0196 a0001c0007t0047g0330 a0001c0034t0035g0174 a0004c0012t0013g0045 a0004c0012t0013g0279 a0004c0012t0013g0284 a0004c0012t0013g0293 a0004c0012t0028g0283 a0004c0012t0056g0201 a0005c0006t0001g0003 a0005c0006t0001g0015 a0005c0006t0001g0128 a0005c0006t0001g0130 a0005c0006t0001g0278 a0005c0006t0005g0014 a0005c0006t0005g0021 a0005c0006t0012g0129 a0005c0006t0018g0038 a0005c0006t0081g0277 a0005c0010t0014g0344 a0007c0008t0006g0007 a0007c0008t0006g0297 a0007c0008t0006g0299 a0007c0008t0037g0294 a0007c0008t0037g0295 a0007c0008t0088g0298 a0007c0008t0090g0281 a0007c0038t0001g0164 a0008c0011t0001g0136 a0008c0011t0002g0332 a0008c0011t0006g0292 a0008c0011t0014g0198 a0008c0011t0028g0296 a0008c0011t0029g0199 a0010c0009t0001g0145 a0010c0009t0001g0146 a0010c0009t0002g0313 a0010c0009t0005g0157 a0010c0009t0019g0322 a0010c0009t0019g0339 a0010c0009t0034g0144 a0010c0009t0092g0323 a0011c0014t0008g0035 a0011c0014t0008g0122 a0011c0014t0008g0337 a0011c0014t0008g0338 a0011c0014t0008g0340 a0011c0049t0055g0040 a0013c0016t0004g0034 a0013c0016t0004g0121 a0013c0016t0020g0188 a0013c0016t0054g0187 a0017c0026t0013g0119 a0017c0032t0032g0351 a0017c0033t0032g0052 a0028c0039t0003g0041 a0029c0048t0036g0376	80	426	0.1878	19	c.112 others(38): Show c.1129+2761_1129+2762insGGCCCTACAAAGGACTTCC	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	10/18			chr2	TogoVar
SP110_chr2_230160186_230224984	230198124	G G	GGAAGTCC others(12): Show GGAAGTCCTTTGTAGGGCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0064 a0008c0011t0003g0064	1	426	0.0023	19	c.112 others(38): Show c.1129+2760_1129+2761insTGGCCCTACAAAGGACTTC	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	10/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230354848	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	132	0.0076	19	c.108 others(36): Show c.108-2957_108-2956insAAAGAAAGAAAGAAAGAAA	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18			chr2	TogoVar
SP140_chr2_230220736_230318215	230288518	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp1 NA18991.hp1 HG01099.hp1 HG01346.hp1 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0206 a0001c0001t0001g0289 a0002c0002t0001g0333 a0001c0001t0001g0206 a0001c0001t0001g0289 a0002c0002t0001g0333	3	291	0.0103	19	c.172 others(36): Show c.1720+558_1720+559insCTTTCTTTCTTTCTTCTTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP1_chr12_53375176_53421446	53420527	T T	TCAGGTGA others(12): Show TCAGGTGATCCACCGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	324	0.0031	19	c.92 others(30): Show c.9287_*9288insCAGGTGATCCACCGCTAGC	SP1	ENSG00000185591.10	transcript	ENST00000327443.9	protein_coding		4082		chr12	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG01884.hp2 others(3): Show HG01071.hp2 HG01167.hp2 HG01884.hp2 HG02109.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0007 a0001c0004t0007 a0001c0001t0006 a0001c0001t0007 a0001c0004t0007	a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0007g0131 others(3): Show a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0007g0131 a0001c0004t0007g0316 a0001c0004t0007g0318 a0001c0004t0007g0319	6	23	0.2609	19	c.163 others(40): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP3_chr2_173895775_173970373	173964307	A A	ACGAGGAG others(12): Show ACGAGGAGGGAGGGGTGAGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp2 HG03669.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	354	0.0056	19	c.156 others(32): Show c.156+79_156+97dupCCTCACCCCTCCCTCCTCG	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	2/6			chr2	TogoVar
SP4_chr7_21423083_21519822	21428010	C C	CCGCGCCG others(12): Show CCGCGCCGCGCGCCGCCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0249 a0001c0005t0026g0249	1	422	0.0024	19	c.-24 others(28): Show c.-242_-241insCGCGCCGCGCGCCGCCGCT	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding		72		chr7	TogoVar

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