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
SORCS2_chr4_7187538_7747827	7373478	A A	AATTTTTT others(6): Show AATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0017 a0001c0037t0017	a0001c0037t0017g0017 a0001c0037t0017g0017	1	31	0.0323	13	c.481 others(32): Show c.481-22810_481-22809insATTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403997	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02015.hp2 HG01261.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0008 a0001c0011t0045 a0001c0001t0008 a0001c0011t0045	a0001c0001t0008g0063 a0001c0011t0045g0107 a0001c0001t0008g0063 a0001c0011t0045g0107	2	147	0.0136	13	c.548 others(30): Show c.548+7643_548+7644insATATATATATATT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403997	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0036 a0001c0001t0012g0036	1	146	0.0068	13	c.548 others(30): Show c.548+7643_548+7644insATATATATATTTT	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(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0061 a0001c0029t0061	a0001c0029t0061g0162 a0001c0029t0061g0162	1	150	0.0067	13	c.548 others(30): Show c.548+7643_548+7644insATATATATATATA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7413391	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG02040.hp1 others(12): Show HG00323.hp1 HG00639.hp2 HG02040.hp1 HG02055.hp1 HG03017.hp1 HG03239.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18962.hp2 NA19066.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0026 a0001c0031 a0002c0004 a0002c0050	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0035 a0001c0002t0039 a0001c0003t0001 a0001c0003t0011 a0001c0003t0015 a0001c0026t0004 a0001c0031t0025 a0002c0004t0002 a0002c0050t0023	a0001c0001t0002g0130 a0001c0001t0005g0014 a0001c0001t0007g0055 others(12): Show a0001c0001t0002g0130 a0001c0001t0005g0014 a0001c0001t0007g0055 a0001c0002t0004g0131 a0001c0002t0007g0076 a0001c0002t0011g0112 a0001c0002t0035g0020 a0001c0002t0039g0070 a0001c0003t0001g0081 a0001c0003t0011g0080 a0001c0003t0015g0091 a0001c0026t0004g0049 a0001c0031t0025g0144 a0002c0004t0002g0013 a0002c0050t0023g0132	15	28	0.5357	13	c.548 others(32): Show c.548+17044_548+17056dupTTTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449121	C C	CTCCCTTC others(6): Show CTCCCTTCCTCTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0050 a0001c0002t0042g0050	1	165	0.0061	13	c.548 others(32): Show c.548+52771_548+52772insTCCTCTTTTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7523089	C C	CCCTCCTC others(6): Show CCCTCCTCCCTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01106.hp2 others(25): Show HG00099.hp1 HG00733.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0016 a0001c0033 a0002c0004 a0003c0012 a0004c0007 a0006c0008 a0006c0045 a0010c0032 a0011c0023 a0012c0039 a0013c0055	a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 others(23): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0058 a0001c0002t0044 a0001c0002t0053 a0001c0003t0015 a0001c0005t0008 a0001c0006t0052 a0001c0009t0001 a0001c0011t0003 a0001c0011t0045 a0001c0016t0001 a0001c0016t0006 a0001c0033t0062 a0002c0004t0012 a0003c0012t0034 a0004c0007t0001 a0006c0008t0001 a0006c0008t0006 a0006c0045t0001 a0010c0032t0019 a0011c0023t0009 a0012c0039t0049 a0013c0055t0006	a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0012g0137 others(25): Show a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0012g0137 a0001c0001t0013g0011 a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0001t0058g0161 a0001c0002t0044g0019 a0001c0002t0053g0115 a0001c0003t0015g0091 a0001c0005t0008g0065 a0001c0006t0052g0084 a0001c0009t0001g0151 a0001c0011t0003g0120 a0001c0011t0045g0107 a0001c0016t0001g0009 a0001c0016t0006g0039 a0001c0033t0062g0160 a0002c0004t0012g0035 a0003c0012t0034g0010 a0004c0007t0001g0026 a0006c0008t0001g0006 a0006c0008t0006g0155 a0006c0045t0001g0148 a0010c0032t0019g0149 a0011c0023t0009g0122 a0012c0039t0049g0064 a0013c0055t0006g0150	28	168	0.1667	13	c.549 others(30): Show c.549-8417_549-8405dupCTGCCTCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02647.hp2 HG02738.hp1 others(3): Show HG00642.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0003 a0001c0006t0001	a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0002t0002g0129 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0002t0002g0129 a0001c0002t0003g0004 a0001c0003t0003g0055 a0001c0006t0001g0077	6	11	0.5455	13	c.627 others(32): Show c.627+29386_627+29398dupTTTTTTTTTTTTT	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(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01433.hp1 HG03453.hp2 HG01358.hp1 HG01433.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0001 a0001c0002t0003 a0001c0005t0001	a0001c0002t0003g0070 a0001c0002t0003g0128 a0001c0005t0001g0007 a0001c0002t0003g0070 a0001c0002t0003g0128 a0001c0005t0001g0007	3	15	0.2000	13	c.627 others(32): Show c.627+93511_627+93523dupTTTTTTTTTTTTT	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(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	99	0.0101	13	c.795 others(32): Show c.795+24307_795+24308insATATATATATATT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940239	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	129	0.0078	13	c.795 others(32): Show c.795+24307_795+24308insATATATATATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26			chr10	TogoVar
SORCS3_chr10_104636290_105270242	105003998	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0055	1	57	0.0175	13	c.954 others(32): Show c.954+26506_954+26507insTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105045037	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02895.hp1 HG01167.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0023 a0001c0001t0004g0039 a0001c0001t0003g0023 a0001c0001t0004g0039	2	119	0.0168	13	c.102 others(32): Show c.1028+1913_1028+1925dupAGAAAGAAAGAAA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105182230	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0127 a0001c0001t0010g0127	1	10	0.1000	13	c.200 others(32): Show c.2009+4068_2009+4080dupTTTTTTTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01433.hp2 others(1): Show HG01192.hp1 HG01192.hp2 HG01433.hp2 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0016 a0001c0009 a0001c0011 a0001c0016	a0001c0009t0008 a0001c0011t0001 a0001c0011t0020 others(1): Show a0001c0009t0008 a0001c0011t0001 a0001c0011t0020 a0001c0016t0002	a0001c0009t0008g0207 a0001c0011t0001g0107 a0001c0011t0020g0106 others(1): Show a0001c0009t0008g0207 a0001c0011t0001g0107 a0001c0011t0020g0106 a0001c0016t0002g0054	4	14	0.2857	13	c.205 others(32): Show c.2051+2004_2051+2016dupAAAAAAAAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS1_chr2_38976549_39126051	39003066	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02145.hp2 others(2): Show HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02976.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0052 others(2): Show a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0052 a0001c0001t0004g0057 a0001c0001t0004g0059	5	164	0.0305	13	c.279 others(32): Show c.2791+3345_2791+3346insTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	17/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39038732	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0036 a0001c0001t0020g0036	1	50	0.0200	13	c.865 others(30): Show c.865-3245_865-3233dupTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39046495	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0047 a0001c0001t0017g0047	1	9	0.1111	13	c.864 others(30): Show c.864+4636_864+4648dupAAAAAAAAAAAAA	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	6/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39102204	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0189 a0001c0001t0035g0189	1	35	0.0286	13	c.87+ others(30): Show c.87+18119_87+18131dupTTTTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50113794	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	88	0.0114	13	c.45 others(24): Show c.4537_*4549dupCCCCCCCCCCCCC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding		3335		chr14	TogoVar
SOS2_chr14_50112130_50236578	50113809	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	312	0.0032	13	c.45 others(24): Show c.4534_*4535insACCCCCCCCCCCC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding		3320		chr14	TogoVar
SOS2_chr14_50112130_50236578	50172419	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01433.hp1 others(40): Show HG00621.hp2 HG00673.hp2 HG01433.hp1 HG01884.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG03209.hp2 HG03516.hp1 HG03831.hp1 HG04115.hp2 HG06807.hp2 NA18940.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18982.hp2 NA18984.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0128 others(40): Show a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0266 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0090 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0343 a0001c0002t0009g0060 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0352 a0001c0003t0005g0137	43	91	0.4725	13	c.106 others(32): Show c.1068+2022_1068+2034dupAAAAAAAAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	8/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02071.hp2 HG02647.hp2 others(3): Show HG01358.hp1 HG02071.hp2 HG02647.hp2 HG03225.hp2 NA19012.hp1 NA19086.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0007c0015 a0001c0002 a0001c0003 a0007c0015	a0001c0002t0001 a0001c0003t0001 a0007c0015t0001 a0001c0002t0001 a0001c0003t0001 a0007c0015t0001	a0001c0002t0001g0035 a0001c0002t0001g0043 a0001c0002t0001g0045 others(3): Show a0001c0002t0001g0035 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0064 a0001c0003t0001g0329 a0007c0015t0001g0036	6	52	0.1154	13	c.511 others(28): Show c.511-644_511-632dupTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50220405	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00642.hp1 others(95): Show HG00099.hp1 HG00423.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19084.hp2 NA19086.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0124 a0001c0001t0001g0132 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0358 a0001c0001t0002g0177 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0306 a0001c0001t0006g0195 a0001c0001t0006g0223 a0001c0002t0001g0152 a0001c0005t0001g0355 a0001c0007t0001g0145 a0001c0007t0001g0146 a0001c0009t0001g0172 a0001c0011t0001g0344 a0002c0004t0001g0363 a0002c0004t0001g0367 a0002c0004t0001g0368 a0002c0004t0001g0369 a0002c0004t0001g0370 a0002c0004t0001g0371 a0002c0004t0001g0372 a0002c0004t0001g0374 a0002c0004t0001g0375 a0002c0004t0001g0376	98	137	0.7153	13	c.87+ others(30): Show c.87+10779_87+10791dupTTTTTTTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02897.hp2 others(3): Show HG02280.hp2 HG02630.hp1 HG02897.hp2 HG02976.hp1 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0000 a0001c0003t0005g0000 a0001c0003t0001g0000 a0001c0003t0005g0000	6	333	0.0180	13	c.-58 others(22): Show c.-586_-585insAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX13_chr1_204068115_204132743	204105413	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(58): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01884.hp2 HG01993.hp1 HG02056.hp2 HG02080.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18943.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18979.hp1 NA19030.hp1 NA19055.hp2 NA19056.hp2 NA19063.hp1 NA19089.hp2 NA20129.hp1 NA20752.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0008 a0001c0001 a0003c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0030 a0003c0003t0016 a0005c0008t0002	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0064 others(57): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0215 a0001c0001t0001g0240 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0309 a0001c0001t0001g0319 a0001c0001t0001g0329 a0001c0001t0001g0338 a0001c0001t0001g0344 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0206 a0001c0001t0002g0253 a0001c0001t0002g0273 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0320 a0001c0001t0002g0328 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0002g0341 a0001c0001t0004g0035 a0001c0001t0004g0179 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0005g0070 a0001c0001t0005g0087 a0001c0001t0006g0026 a0001c0001t0006g0186 a0001c0001t0006g0274 a0001c0001t0006g0279 a0001c0001t0008g0061 a0001c0001t0009g0054 a0001c0001t0009g0175 a0001c0001t0011g0029 a0001c0001t0013g0020 a0001c0001t0013g0027 a0001c0001t0015g0181 a0001c0001t0017g0069 a0001c0001t0017g0074 a0001c0001t0026g0326 a0001c0001t0030g0294 a0003c0003t0016g0085 a0003c0003t0016g0086 a0005c0008t0002g0073	61	198	0.3081	13	c.-1- others(28): Show c.-1-7492_-1-7491insTTTTTTTTTTTTT	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX13_chr1_204068115_204132743	204129987	C C	CGGGGGGG others(6): Show CGGGGGGGGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	38	0.0263	13	c.38 others(24): Show c.3853_*3854insGGGGGGGGTGGGG	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding		2245		chr1	TogoVar
SOX2_chr3_181706925_181719436	181711767	C C	CCCTCCTC others(6): Show CCCTCCTCCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	410	0.0024	13	c.-59 others(22): Show c.-594_-593insCCTCCTCCCCCGG	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		157		chr3	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02976.hp1 NA20905.hp2 HG00140.hp2 HG02976.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0104 a0001c0002t0001g0023 a0001c0002t0001g0104	3	123	0.0244	13	c.188 others(32): Show c.1881-5339_1881-5327dupTTTTTTTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX3_chrX_140497985_140510069	140506861	G G	GGGCTGCA others(6): Show GGGCTGCAGTCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	337	0.0030	13	c.-18 others(24): Show c.-1802_-1801insGTTGACTGCAGCC	SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding		1793		chrX	TogoVar
SOX5_chr12_23524504_23954670	23577192	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	161	0.0062	13	c.116 others(32): Show c.1165-1355_1165-1354insTATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01517.hp2 HG02132.hp1 others(1): Show HG00741.hp1 HG01517.hp2 HG02132.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0055 others(1): Show a0001c0001t0008 a0001c0001t0034 a0001c0001t0055 a0001c0001t0062	a0001c0001t0008g0035 a0001c0001t0034g0015 a0001c0001t0055g0135 others(1): Show a0001c0001t0008g0035 a0001c0001t0034g0015 a0001c0001t0055g0135 a0001c0001t0062g0089	4	15	0.2667	13	c.116 others(32): Show c.1165-2292_1165-2280dupTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00738.hp1 others(49): Show HG00609.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02040.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03942.hp1 HG06807.hp1 NA18942.hp1 NA18944.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18973.hp1 NA18973.hp2 NA18994.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0044 a0001c0001t0056 a0001c0001t0058 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074 a0001c0001t0084 a0001c0001t0091 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0114 a0001c0001t0122 a0001c0002t0005 a0001c0002t0006 a0001c0002t0046 a0001c0005t0001 a0001c0006t0007	a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0002g0006 others(49): Show a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0002g0006 a0001c0001t0002g0130 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0008g0035 a0001c0001t0008g0067 a0001c0001t0009g0041 a0001c0001t0009g0187 a0001c0001t0011g0082 a0001c0001t0011g0144 a0001c0001t0014g0097 a0001c0001t0014g0110 a0001c0001t0015g0102 a0001c0001t0020g0094 a0001c0001t0021g0139 a0001c0001t0027g0146 a0001c0001t0028g0185 a0001c0001t0028g0203 a0001c0001t0030g0040 a0001c0001t0030g0099 a0001c0001t0031g0005 a0001c0001t0033g0065 a0001c0001t0035g0018 a0001c0001t0036g0117 a0001c0001t0037g0081 a0001c0001t0038g0168 a0001c0001t0040g0046 a0001c0001t0044g0206 a0001c0001t0056g0142 a0001c0001t0058g0132 a0001c0001t0063g0140 a0001c0001t0065g0033 a0001c0001t0066g0048 a0001c0001t0067g0051 a0001c0001t0069g0098 a0001c0001t0071g0014 a0001c0001t0074g0175 a0001c0001t0084g0207 a0001c0001t0091g0178 a0001c0001t0100g0096 a0001c0001t0101g0145 a0001c0001t0103g0064 a0001c0001t0114g0119 a0001c0001t0122g0069 a0001c0002t0005g0101 a0001c0002t0006g0043 a0001c0002t0006g0126 a0001c0002t0046g0161 a0001c0005t0001g0195 a0001c0006t0007g0115	52	56	0.9286	13	c.811 others(30): Show c.811-8785_811-8773dupAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02559.hp1 HG02109.hp2 HG02258.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0120 a0001c0002t0048 a0001c0001t0027 a0001c0001t0120 a0001c0002t0048	a0001c0001t0027g0106 a0001c0001t0120g0107 a0001c0002t0048g0113 a0001c0001t0027g0106 a0001c0001t0120g0107 a0001c0002t0048g0113	3	16	0.1875	13	c.482 others(32): Show c.482-36911_482-36899dupTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23831963	C C	CACACACA others(6): Show CACACACACACACT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0151 a0001c0001t0017g0151	1	210	0.0048	13	c.481 others(32): Show c.481+14019_481+14020insAGTGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23843554	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	1	45	0.0222	13	c.481 others(30): Show c.481+2416_481+2428dupAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23860952	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01993.hp1 HG02559.hp2 others(2): Show HG01891.hp2 HG01993.hp1 HG02559.hp2 HG02886.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 others(2): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0096	a0001c0001t0009g0017 a0001c0001t0011g0144 a0001c0001t0013g0177 others(2): Show a0001c0001t0009g0017 a0001c0001t0011g0144 a0001c0001t0013g0177 a0001c0001t0020g0181 a0001c0001t0096g0074	5	144	0.0347	13	c.271 others(32): Show c.271-14772_271-14760dupTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23872164	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03041.hp2 HG02451.hp2 HG02976.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0084 a0001c0001t0002g0085 a0001c0001t0004g0025 a0001c0001t0001g0084 a0001c0001t0002g0085 a0001c0001t0004g0025	3	88	0.0341	13	c.270 others(32): Show c.270+23616_270+23628dupAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16128556	G G	GTATCCAG others(6): Show GTATCCAGTTTACT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0216 a0001c0002t0043g0216	1	216	0.0046	13	c.778 others(32): Show c.778-16646_778-16634dupAGTAAACTGGATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(6): Show AGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0217 a0001c0001t0046g0217	1	118	0.0085	13	c.-5+ others(28): Show c.-5+6378_-5+6379insCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03017.hp2 HG02109.hp2 HG03017.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0009 a0001c0001 a0010c0009	a0001c0001t0002 a0010c0009t0034 a0001c0001t0002 a0010c0009t0034	a0001c0001t0002g0219 a0010c0009t0034g0144 a0001c0001t0002g0219 a0010c0009t0034g0144	2	37	0.0541	13	c.898 others(30): Show c.898+1395_898+1396insTATATATATATAT	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG02056.hp1 others(4): Show HG01099.hp2 HG01175.hp1 HG02056.hp1 HG02896.hp1 HG03041.hp2 HG03654.hp2 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0004t0002 a0003c0003t0001 a0001c0001t0001 a0001c0004t0002 a0003c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0001g0151 a0001c0004t0002g0121 a0001c0004t0002g0141 a0003c0003t0001g0118	7	276	0.0254	13	c.108 others(30): Show c.108-2921_108-2909dupAGAAAGAAAGAAA	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230361503	G G	GTCATGTG others(6): Show GTCATGTGTAACCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp2 others(139): Show HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01346.hp2 HG01891.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18946.hp2 NA18949.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA19001.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0008 a0009 a0012 a0014	a0001c0001 a0001c0004 a0001c0018 others(12): Show a0001c0001 a0001c0004 a0001c0018 a0002c0002 a0002c0006 a0002c0013 a0002c0022 a0002c0024 a0002c0025 a0003c0003 a0007c0012 a0008c0010 a0009c0011 a0012c0016 a0014c0020	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(19): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0008 a0001c0018t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0007 a0002c0006t0001 a0002c0013t0001 a0002c0022t0001 a0002c0024t0001 a0002c0025t0001 a0003c0003t0001 a0003c0003t0003 a0007c0012t0001 a0008c0010t0004 a0009c0011t0001 a0012c0016t0001 a0014c0020t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 others(122): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0226 a0001c0001t0001g0302 a0001c0004t0001g0285 a0001c0004t0002g0043 a0001c0004t0002g0060 a0001c0004t0002g0061 a0001c0004t0002g0064 a0001c0004t0002g0078 a0001c0004t0002g0121 a0001c0004t0002g0141 a0001c0004t0004g0022 a0001c0004t0004g0050 a0001c0004t0006g0177 a0001c0004t0008g0041 a0001c0018t0001g0168 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0131 a0002c0002t0001g0142 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0286 a0002c0002t0005g0017 a0002c0002t0005g0178 a0002c0002t0007g0046 a0002c0006t0001g0052 a0002c0006t0001g0068 a0002c0006t0001g0069 a0002c0006t0001g0153 a0002c0013t0001g0146 a0002c0013t0001g0179 a0002c0022t0001g0156 a0002c0024t0001g0083 a0002c0025t0001g0087 a0003c0003t0001g0001 a0003c0003t0001g0015 a0003c0003t0001g0028 a0003c0003t0001g0044 a0003c0003t0001g0049 a0003c0003t0001g0054 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0059 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0074 a0003c0003t0001g0118 a0003c0003t0001g0137 a0003c0003t0001g0143 a0003c0003t0001g0147 a0003c0003t0001g0154 a0003c0003t0001g0238 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0003g0003 a0003c0003t0003g0008 a0003c0003t0003g0042 a0003c0003t0003g0058 a0003c0003t0003g0165 a0003c0003t0003g0232 a0007c0012t0001g0029 a0007c0012t0001g0030 a0007c0012t0001g0031 a0008c0010t0004g0062 a0008c0010t0004g0125 a0009c0011t0001g0007 a0012c0016t0001g0127 a0014c0020t0001g0053	142	334	0.4252	13	c.440 others(28): Show c.440-109_440-108insATGTGTAACCCTC	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230226762	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0030 a0003c0004t0003g0030	1	106	0.0094	13	c.59+ others(26): Show c.59+866_59+878dupAAAAAAAAAAAAA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01123.hp2 others(41): Show HG00323.hp2 HG00609.hp2 HG01123.hp2 HG01361.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02886.hp2 HG02970.hp1 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18747.hp1 NA18939.hp1 NA18953.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18995.hp1 NA19004.hp1 NA19006.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19084.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0001t0063 a0001c0001t0094 a0001c0001t0095 a0001c0006t0006 a0003c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0334 a0001c0001t0003g0272 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0136 a0001c0001t0004g0153 a0001c0001t0004g0166 a0001c0001t0004g0331 a0001c0001t0008g0090 a0001c0001t0008g0162 a0001c0001t0008g0165 a0001c0001t0017g0180 a0001c0001t0063g0099 a0001c0001t0094g0179 a0001c0001t0095g0074 a0001c0006t0006g0105 a0003c0003t0004g0315	44	61	0.7213	13	c.163 others(34): Show c.1639+15096_1639+15108dupTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPAAR_chr9_35904490_35916686	35914283	A A	AGTGAGTG others(6): Show AGTGAGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 NA20129.hp2 HG00733.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	226	0.0088	13	c.35 others(24): Show c.3592_*3593insGTGAGTGTGTGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2598		chr9	TogoVar
SPACA4_chr19_48601742_48612714	48602686	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 NA18951.hp2 NA19088.hp1 HG01978.hp1 NA18951.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	353	0.0085	13	c.-42 others(24): Show c.-4293_-4292insAAAAAAAAAAAAA	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4055		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	190	0.0053	13	c.-42 others(24): Show c.-4275_-4274insAAAAAAAAAAAAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA19083.hp1 HG03927.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	191	0.0105	13	c.-42 others(24): Show c.-4275_-4274insAAAAAAAAAATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02486.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	191	0.0105	13	c.-42 others(24): Show c.-4275_-4274insAAAAAATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar

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