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	7449168	C C	CCCTCCCT CCCTCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01106.hp1 others(2): Show HG00099.hp2 HG00639.hp2 HG01106.hp1 HG01123.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0034 others(1): Show a0001c0001 a0001c0002 a0001c0034 a0001c0047	a0001c0001t0005 a0001c0002t0008 a0001c0002t0039 others(2): Show a0001c0001t0005 a0001c0002t0008 a0001c0002t0039 a0001c0034t0005 a0001c0047t0057	a0001c0001t0005g0085 a0001c0002t0008g0121 a0001c0002t0039g0070 others(2): Show a0001c0001t0005g0085 a0001c0002t0008g0121 a0001c0002t0039g0070 a0001c0034t0005g0093 a0001c0047t0057g0051	5	163	0.0307	7	c.548 others(26): Show c.548+52813_548+52814insCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7496453	T T	TCCCCGTC TCCCCGTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02559.hp2 others(4): Show HG01891.hp1 HG02109.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG03225.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0003c0012 a0004c0044 a0010c0032	a0001c0001t0058 a0001c0002t0003 a0001c0005t0008 others(4): Show a0001c0001t0058 a0001c0002t0003 a0001c0005t0008 a0001c0015t0011 a0003c0012t0034 a0004c0044t0041 a0010c0032t0019	a0001c0001t0058g0161 a0001c0002t0003g0018 a0001c0005t0008g0065 others(4): Show a0001c0001t0058g0161 a0001c0002t0003g0018 a0001c0005t0008g0065 a0001c0015t0011g0002 a0003c0012t0034g0010 a0004c0044t0041g0016 a0010c0032t0019g0149	7	147	0.0476	7	c.549 others(26): Show c.549-35058_549-35052dupGTCCCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7496465	G G	GTCCCCCA GTCCCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01106.hp2 others(7): Show HG00323.hp1 HG00639.hp2 HG01106.hp2 HG01361.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp2 HG03471.hp2 HG04204.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0002c0004	a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0002t0039 a0001c0003t0001 a0001c0003t0004 a0001c0005t0006 a0001c0006t0001 a0001c0011t0003 a0002c0004t0004	a0001c0001t0003g0097 a0001c0001t0007g0055 a0001c0001t0013g0099 others(7): Show a0001c0001t0003g0097 a0001c0001t0007g0055 a0001c0001t0013g0099 a0001c0002t0039g0070 a0001c0003t0001g0081 a0001c0003t0004g0088 a0001c0005t0006g0157 a0001c0006t0001g0054 a0001c0011t0003g0120 a0002c0004t0004g0095	10	87	0.1149	7	c.549 others(26): Show c.549-35059_549-35058insATCCCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724384	G G	GTACTGGT GTACTGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG01109.hp2 HG02258.hp1	a0003 a0008 a0003 a0008	a0003c0013 a0008c0056 a0003c0013 a0008c0056	a0003c0013t0018 a0008c0056t0018 a0003c0013t0018 a0008c0056t0018	a0003c0013t0018g0100 a0008c0056t0018g0061 a0003c0013t0018g0100 a0008c0056t0018g0061	2	168	0.0119	7	c.261 others(24): Show c.2611+501_2611+502insTACTGGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26			chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671019	T T	TTGCTGAA TTGCTGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG06807.hp2 NA19043.hp2 HG03098.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0015t0002 a0001c0001t0001 a0001c0001t0002 a0001c0015t0002	a0001c0001t0001g0124 a0001c0001t0002g0123 a0001c0015t0002g0130 a0001c0001t0001g0124 a0001c0001t0002g0123 a0001c0015t0002g0130	3	134	0.0224	7	c.627 others(26): Show c.627+29067_627+29073dupGCTGAAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696390	A A	AATATACT AATATACT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01071.hp1 others(16): Show HG00609.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01243.hp1 HG01884.hp2 HG02280.hp2 HG02738.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp1 HG03516.hp2 HG04115.hp1 NA18906.hp1 NA18988.hp2 NA19002.hp1 NA19003.hp1 NA19010.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0004c0008 a0005c0007 a0007c0019 a0008c0014	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0006t0001 a0004c0008t0001 a0005c0007t0001 a0007c0019t0002 a0008c0014t0001	a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0082 others(16): Show a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0004g0066 a0001c0001t0004g0125 a0001c0002t0001g0057 a0001c0002t0001g0064 a0001c0002t0001g0091 a0001c0002t0002g0129 a0001c0002t0003g0059 a0001c0002t0008g0013 a0001c0006t0001g0077 a0004c0008t0001g0126 a0005c0007t0001g0060 a0005c0007t0001g0061 a0007c0019t0002g0109 a0008c0014t0001g0015	19	124	0.1532	7	c.627 others(26): Show c.627+54441_627+54442insCTATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696413	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01081.hp1 others(23): Show HG00642.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02280.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG04115.hp1 NA18988.hp2 NA19030.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0004 a0002c0013 a0004c0008 a0006c0010 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0002 a0001c0005t0001 a0001c0006t0001 a0002c0004t0001 a0002c0013t0002 a0004c0008t0001 a0006c0010t0001 a0006c0011t0001	a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0002g0082 others(23): Show a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0003g0079 a0001c0001t0004g0125 a0001c0001t0009g0080 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0064 a0001c0002t0001g0085 a0001c0002t0001g0091 a0001c0002t0002g0053 a0001c0002t0002g0129 a0001c0002t0003g0006 a0001c0002t0006g0071 a0001c0003t0002g0010 a0001c0005t0001g0081 a0001c0006t0001g0077 a0002c0004t0001g0002 a0002c0013t0002g0131 a0004c0008t0001g0126 a0006c0010t0001g0068 a0006c0011t0001g0069	26	52	0.5000	7	c.627 others(26): Show c.627+54472_627+54478dupTAATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696426	T T	TAATATAG TAATATAG	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	7	c.627 others(26): Show c.627+54479_627+54485dupGAATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696466	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02895.hp1 HG01099.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0023 a0001c0001t0004g0045 a0001c0001t0003g0023 a0001c0001t0004g0045	2	131	0.0153	7	c.627 others(26): Show c.627+54517_627+54518insTAATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696472	G G	GAATATAT GAATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01070.hp1 others(32): Show HG00140.hp1 HG00609.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01517.hp1 HG01981.hp2 HG02738.hp1 HG03017.hp2 HG03139.hp2 HG03516.hp1 HG03688.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18941.hp1 NA18943.hp1 NA18970.hp1 NA18995.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19079.hp2 NA19090.hp1 NA20905.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0013	a0001c0001 a0001c0002 a0001c0018 others(3): Show a0001c0001 a0001c0002 a0001c0018 a0003c0009 a0009c0020 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0018t0002 a0003c0009t0002 a0009c0020t0001 a0013c0016t0004	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 others(32): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0001g0113 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0056 a0001c0001t0002g0110 a0001c0001t0003g0033 a0001c0001t0004g0028 a0001c0001t0004g0048 a0001c0001t0004g0094 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0086 a0001c0002t0001g0114 a0001c0002t0001g0134 a0001c0018t0002g0063 a0003c0009t0002g0096 a0003c0009t0002g0097 a0009c0020t0001g0024 a0013c0016t0004g0067	35	110	0.3182	7	c.627 others(26): Show c.627+54524_627+54525insTAATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104735456	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02970.hp1 HG02976.hp2 others(2): Show HG01081.hp1 HG02970.hp1 HG02976.hp2 HG04204.hp2 NA20300.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0012c0012 a0001c0001 a0001c0002 a0012c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0012c0012t0001	a0001c0001t0001g0009 a0001c0001t0003g0079 a0001c0001t0009g0080 others(2): Show a0001c0001t0001g0009 a0001c0001t0003g0079 a0001c0001t0009g0080 a0001c0002t0001g0012 a0012c0012t0001g0003	5	17	0.2941	7	c.627 others(26): Show c.627+93517_627+93523dupTTTTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104887971	G G	GGGGGTGC GGGGGTGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG01081.hp1 others(9): Show HG00642.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01192.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG02738.hp2 HG03130.hp1 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0003c0009t0002	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0016 others(9): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0009g0080 a0001c0002t0001g0050 a0001c0005t0001g0007 a0001c0006t0001g0077 a0003c0009t0002g0097	12	79	0.1519	7	c.696 others(26): Show c.696-27861_696-27860insGGGTGCG	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105087487	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01167.hp2 others(5): Show HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG02895.hp1 HG03516.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0079 others(5): Show a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0079 a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0094	8	83	0.0964	7	c.102 others(26): Show c.1029-2281_1029-2275dupAAAAAAA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105129332	T T	TCTCTCTC TCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG01175.hp1 others(4): Show HG00140.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp1 HG01515.hp1 HG02622.hp1 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0003 a0001c0001t0001 a0011c0017t0003	a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0049 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0011c0017t0003g0088	7	127	0.0551	7	c.121 others(28): Show c.1213-10065_1213-10064insCTCTCTC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	7/26			chr10	TogoVar
SORL1_chr11_121447314_121638763	121502124	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG01891.hp2 others(11): Show HG00544.hp1 HG00738.hp2 HG01891.hp2 HG01934.hp2 HG02273.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp2 NA18906.hp2 NA18942.hp2 NA18969.hp2 NA18990.hp1 NA19012.hp1 NA19066.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0009 a0002c0005 a0002c0007 others(3): Show a0001c0009 a0002c0005 a0002c0007 a0002c0014 a0002c0049 a0012c0050	a0001c0009t0008 a0002c0005t0001 a0002c0005t0004 others(8): Show a0001c0009t0008 a0002c0005t0001 a0002c0005t0004 a0002c0005t0009 a0002c0005t0019 a0002c0007t0001 a0002c0007t0017 a0002c0014t0004 a0002c0014t0014 a0002c0049t0003 a0012c0050t0002	a0001c0009t0008g0207 a0002c0005t0001g0042 a0002c0005t0001g0202 others(11): Show a0001c0009t0008g0207 a0002c0005t0001g0042 a0002c0005t0001g0202 a0002c0005t0004g0043 a0002c0005t0009g0041 a0002c0005t0019g0062 a0002c0007t0001g0221 a0002c0007t0017g0122 a0002c0007t0017g0123 a0002c0014t0004g0076 a0002c0014t0014g0217 a0002c0014t0014g0252 a0002c0049t0003g0162 a0012c0050t0002g0180	14	86	0.1628	7	c.939 others(24): Show c.939+5098_939+5104dupTTTTTTT	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109375541	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(124): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0008 a0009	a0001c0001 a0003c0011 a0007c0012 others(2): Show a0001c0001 a0003c0011 a0007c0012 a0008c0008 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0039 a0003c0011t0031 a0007c0012t0002 a0008c0008t0011 a0009c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0182 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0096 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0007g0091 a0001c0001t0007g0104 a0001c0001t0007g0134 a0001c0001t0007g0183 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0009g0127 a0001c0001t0009g0137 a0001c0001t0011g0042 a0001c0001t0011g0082 a0001c0001t0014g0030 a0001c0001t0020g0044 a0001c0001t0021g0051 a0001c0001t0022g0108 a0001c0001t0023g0077 a0001c0001t0025g0122 a0001c0001t0027g0113 a0001c0001t0028g0131 a0001c0001t0029g0140 a0001c0001t0030g0144 a0001c0001t0032g0085 a0001c0001t0039g0111 a0003c0011t0031g0145 a0007c0012t0002g0031 a0008c0008t0011g0035 a0009c0013t0001g0103	127	144	0.8819	7	c.307 others(24): Show c.307-5959_307-5953dupTTTTTTT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109380813	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02723.hp2 others(2): Show HG02055.hp2 HG02145.hp1 HG02723.hp2 HG03579.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0010 a0001c0003 a0005c0010	a0001c0003t0005 a0001c0003t0012 a0005c0010t0005 a0001c0003t0005 a0001c0003t0012 a0005c0010t0005	a0001c0003t0005g0020 a0001c0003t0005g0025 a0001c0003t0005g0026 others(2): Show a0001c0003t0005g0020 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0012g0155 a0005c0010t0005g0021	5	56	0.0893	7	c.307 others(26): Show c.307-11231_307-11225dupTTTTTTT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS1_chr2_38976549_39126051	39102204	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00597.hp2 others(49): Show HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG01099.hp2 HG01258.hp2 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01981.hp2 HG01993.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18942.hp1 NA18945.hp2 NA18952.hp2 NA18960.hp1 NA18966.hp1 NA18967.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18993.hp2 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19083.hp1 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0006 a0001c0001 a0001c0004 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0004t0013 a0004c0006t0009	a0001c0001t0001g0008 a0001c0001t0001g0065 a0001c0001t0001g0066 others(49): Show a0001c0001t0001g0008 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0003g0014 a0001c0001t0003g0117 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0005g0107 a0001c0001t0005g0146 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0009g0012 a0001c0001t0011g0181 a0001c0001t0011g0182 a0001c0001t0011g0183 a0001c0001t0026g0173 a0001c0001t0028g0128 a0001c0001t0032g0180 a0001c0001t0034g0185 a0001c0004t0013g0001 a0001c0004t0013g0002 a0004c0006t0009g0160	52	86	0.6047	7	c.87+ others(24): Show c.87+18125_87+18131dupTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50125608	C C	CCAAATGT CCAAATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(332): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0002c0004 a0002c0016 a0003c0006 a0004c0012 a0005c0010 a0006c0008 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0003t0001 a0001c0003t0005 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0013t0012 a0002c0004t0001 a0002c0016t0001 a0003c0006t0001 a0004c0012t0001 a0005c0010t0001 a0006c0008t0001 a0007c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0121 others(331): Show a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0002g0177 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0306 a0001c0001t0006g0195 a0001c0001t0006g0223 a0001c0001t0008g0229 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0125 a0001c0002t0001g0152 a0001c0002t0001g0274 a0001c0002t0001g0343 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0009g0060 a0001c0002t0010g0378 a0001c0002t0013g0381 a0001c0003t0001g0034 a0001c0003t0001g0052 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0119 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351 a0001c0003t0001g0352 a0001c0003t0001g0356 a0001c0003t0005g0137 a0001c0003t0005g0138 a0001c0005t0001g0353 a0001c0005t0001g0354 a0001c0005t0001g0355 a0001c0007t0001g0145 a0001c0007t0001g0146 a0001c0009t0001g0172 a0001c0011t0001g0344 a0001c0013t0012g0380 a0002c0004t0001g0363 a0002c0004t0001g0364 a0002c0004t0001g0365 a0002c0004t0001g0366 a0002c0004t0001g0367 a0002c0004t0001g0368 a0002c0004t0001g0369 a0002c0004t0001g0370 a0002c0004t0001g0371 a0002c0004t0001g0372 a0002c0004t0001g0373 a0002c0004t0001g0374 a0002c0004t0001g0375 a0002c0004t0001g0376 a0002c0016t0001g0377 a0003c0006t0001g0027 a0003c0006t0001g0361 a0004c0012t0001g0296 a0005c0010t0001g0061 a0006c0008t0001g0265 a0007c0015t0001g0036	335	380	0.8816	7	c.337 others(26): Show c.3379+4352_3379+4353insACATTTG	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	21/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50189331	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00544.hp1 others(80): Show HG00099.hp1 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01993.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19030.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19086.hp1 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0140 a0001c0001t0001g0141 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0357 a0001c0001t0002g0177 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0306 a0001c0001t0006g0195 a0001c0001t0006g0223 a0001c0002t0001g0152 a0001c0007t0001g0146 a0001c0009t0001g0172 a0001c0011t0001g0344	83	129	0.6434	7	c.511 others(22): Show c.511-638_511-632dupTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	4/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50224883	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01069.hp2 others(9): Show HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01074.hp2 HG01496.hp2 HG01981.hp2 HG02451.hp2 HG02818.hp2 HG02895.hp2 HG03098.hp2 NA18939.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0007t0001 a0001c0011t0001 a0001c0013t0012	a0001c0001t0001g0122 a0001c0001t0001g0147 a0001c0001t0001g0225 others(9): Show a0001c0001t0001g0122 a0001c0001t0001g0147 a0001c0001t0001g0225 a0001c0001t0001g0305 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0029 a0001c0002t0004g0006 a0001c0007t0001g0145 a0001c0007t0001g0146 a0001c0011t0001g0344 a0001c0013t0012g0380	12	57	0.2105	7	c.87+ others(22): Show c.87+6307_87+6313dupTTTTTTT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOX13_chr1_204068115_204132743	204081532	G G	GTGGGGGT GTGGGGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG02015.hp2 others(2): Show HG00597.hp1 HG00609.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 others(2): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0266 a0001c0001t0002g0269	5	362	0.0138	7	c.-2+ others(22): Show c.-2+7828_-2+7834dupTTGGGGG	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX13_chr1_204068115_204132743	204096239	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00735.hp1 others(46): Show HG00423.hp2 HG00544.hp2 HG00735.hp1 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp1 HG01981.hp1 HG01981.hp2 HG02074.hp1 HG02135.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02630.hp1 HG02738.hp2 HG03130.hp1 HG03239.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18945.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18965.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp1 NA19055.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19090.hp1 NA19090.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0006c0006t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(45): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0308 a0001c0001t0001g0332 a0001c0001t0001g0342 a0001c0001t0002g0112 a0001c0001t0002g0127 a0001c0001t0002g0278 a0001c0001t0003g0071 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0166 a0001c0001t0004g0042 a0001c0001t0006g0186 a0001c0001t0008g0009 a0001c0001t0008g0307 a0001c0001t0013g0178 a0001c0001t0014g0138 a0006c0006t0001g0005	49	150	0.3267	7	c.-1- others(24): Show c.-1-16664_-1-16658dupTTTTTTT	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX13_chr1_204068115_204132743	204101504	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(181): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0010 a0003c0003 others(2): Show a0001c0001 a0001c0010 a0003c0003 a0004c0004 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0010t0001 a0003c0003t0009 a0004c0004t0001 a0006c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(171): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0308 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0342 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0151 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0302 a0001c0001t0002g0313 a0001c0001t0003g0006 a0001c0001t0003g0090 a0001c0001t0003g0099 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0166 a0001c0001t0003g0211 a0001c0001t0003g0233 a0001c0001t0003g0247 a0001c0001t0003g0299 a0001c0001t0004g0033 a0001c0001t0004g0042 a0001c0001t0004g0047 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0005g0088 a0001c0001t0005g0158 a0001c0001t0005g0216 a0001c0001t0007g0016 a0001c0001t0007g0023 a0001c0001t0007g0153 a0001c0001t0007g0236 a0001c0001t0008g0009 a0001c0001t0008g0143 a0001c0001t0008g0307 a0001c0001t0008g0343 a0001c0001t0009g0050 a0001c0001t0009g0051 a0001c0001t0009g0084 a0001c0001t0009g0175 a0001c0001t0009g0223 a0001c0001t0010g0180 a0001c0001t0010g0188 a0001c0001t0012g0049 a0001c0001t0014g0096 a0001c0001t0018g0108 a0001c0001t0019g0201 a0001c0001t0023g0227 a0001c0001t0024g0221 a0001c0001t0027g0254 a0001c0001t0031g0006 a0001c0010t0001g0272 a0003c0003t0009g0212 a0004c0004t0001g0075 a0006c0006t0001g0005	184	220	0.8364	7	c.-1- others(24): Show c.-1-11403_-1-11397dupAAAAAAA	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX17_chr8_54452935_54465892	54462354	A A	AACTATGT AACTATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01109.hp2 others(4): Show HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01884.hp2 HG02145.hp1 HG02451.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0006 a0001c0001t0002g0005 a0001c0003t0002g0005 a0001c0001t0001g0006 a0001c0001t0002g0005 a0001c0003t0002g0005	7	416	0.0168	7	c.23 others(18): Show c.2359_*2360insACTATGT	SOX17	ENSG00000164736.6	transcript	ENST00000297316.5	protein_coding		1463		chr8	TogoVar
SOX30_chr5_157620679_157657438	157632047	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02965.hp1 others(4): Show HG02717.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp1 NA19240.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0004 a0003c0005t0003g0272 a0003c0005t0003g0004 a0003c0005t0003g0272	7	127	0.0551	7	c.188 others(26): Show c.1881-5333_1881-5327dupTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX5_chr12_23524504_23954670	23530495	C C	CAAACAAT CAAACAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp1 others(60): Show HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00738.hp1 HG01071.hp2 HG01243.hp1 HG01261.hp2 HG01517.hp2 HG01891.hp1 HG01981.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18944.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(40): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0001t0033 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0115 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0002t0005 a0001c0002t0006 a0001c0002t0046 a0001c0002t0048 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0004t0047	a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0120 others(60): Show a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0153 a0001c0001t0003g0208 a0001c0001t0004g0025 a0001c0001t0004g0030 a0001c0001t0004g0148 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0006g0068 a0001c0001t0019g0066 a0001c0001t0019g0075 a0001c0001t0021g0129 a0001c0001t0021g0139 a0001c0001t0033g0036 a0001c0001t0033g0065 a0001c0001t0036g0112 a0001c0001t0036g0117 a0001c0001t0040g0046 a0001c0001t0041g0010 a0001c0001t0042g0077 a0001c0001t0043g0149 a0001c0001t0044g0206 a0001c0001t0045g0103 a0001c0001t0049g0021 a0001c0001t0054g0154 a0001c0001t0055g0135 a0001c0001t0056g0142 a0001c0001t0057g0087 a0001c0001t0064g0100 a0001c0001t0065g0033 a0001c0001t0066g0048 a0001c0001t0067g0051 a0001c0001t0101g0145 a0001c0001t0102g0016 a0001c0001t0103g0064 a0001c0001t0104g0134 a0001c0001t0105g0063 a0001c0001t0106g0011 a0001c0001t0115g0179 a0001c0001t0117g0083 a0001c0001t0118g0007 a0001c0001t0119g0020 a0001c0001t0120g0107 a0001c0001t0121g0186 a0001c0002t0005g0013 a0001c0002t0005g0071 a0001c0002t0005g0101 a0001c0002t0005g0125 a0001c0002t0005g0180 a0001c0002t0006g0019 a0001c0002t0006g0043 a0001c0002t0006g0061 a0001c0002t0006g0126 a0001c0002t0046g0161 a0001c0002t0048g0113 a0001c0002t0050g0212 a0001c0002t0051g0070 a0001c0002t0052g0124 a0001c0002t0053g0095 a0001c0004t0047g0190	63	106	0.5943	7	c.37 others(18): Show c.3723_*3724insATTGTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3723		chr12	TogoVar
SOX5_chr12_23524504_23954670	23577191	A A	ATATATTT ATATATTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp1 HG02083.hp1 others(19): Show HG00597.hp2 HG01981.hp1 HG02083.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02970.hp1 HG03209.hp2 HG03710.hp1 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 others(17): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0001t0029 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0066 a0001c0001t0097 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0114 a0001c0002t0006 a0001c0002t0048 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053	a0001c0001t0006g0068 a0001c0001t0014g0097 a0001c0001t0019g0066 others(19): Show a0001c0001t0006g0068 a0001c0001t0014g0097 a0001c0001t0019g0066 a0001c0001t0019g0075 a0001c0001t0029g0143 a0001c0001t0033g0036 a0001c0001t0040g0046 a0001c0001t0041g0010 a0001c0001t0066g0048 a0001c0001t0097g0062 a0001c0001t0103g0064 a0001c0001t0104g0134 a0001c0001t0105g0063 a0001c0001t0106g0011 a0001c0001t0114g0119 a0001c0002t0006g0043 a0001c0002t0006g0126 a0001c0002t0048g0113 a0001c0002t0050g0212 a0001c0002t0051g0070 a0001c0002t0052g0124 a0001c0002t0053g0095	22	149	0.1477	7	c.116 others(26): Show c.1165-1354_1165-1353insAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23577192	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02965.hp2 others(1): Show HG02647.hp1 HG02895.hp1 HG02965.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0060	a0001c0001t0003g0093 a0001c0001t0004g0209 a0001c0001t0028g0185 others(1): Show a0001c0001t0003g0093 a0001c0001t0004g0209 a0001c0001t0028g0185 a0001c0001t0060g0156	4	164	0.0244	7	c.116 others(26): Show c.1165-1355_1165-1354insTATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01993.hp1 HG02040.hp2 others(7): Show HG01167.hp1 HG01993.hp1 HG02040.hp2 HG02886.hp1 HG02922.hp1 HG03139.hp2 HG03471.hp1 NA18906.hp2 NA18942.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0028 others(5): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0028 a0001c0001t0034 a0001c0001t0109 a0001c0001t0112 a0001c0001t0113 a0001c0001t0118	a0001c0001t0008g0205 a0001c0001t0009g0017 a0001c0001t0009g0041 others(7): Show a0001c0001t0008g0205 a0001c0001t0009g0017 a0001c0001t0009g0041 a0001c0001t0009g0187 a0001c0001t0028g0185 a0001c0001t0034g0122 a0001c0001t0109g0039 a0001c0001t0112g0001 a0001c0001t0113g0008 a0001c0001t0118g0007	10	21	0.4762	7	c.116 others(26): Show c.1165-2286_1165-2280dupTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01175.hp2 others(4): Show HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01891.hp1 HG02647.hp1 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0054 others(3): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0054 a0001c0001t0060 a0001c0001t0061 a0001c0001t0119	a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0016g0088 others(4): Show a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0016g0088 a0001c0001t0054g0154 a0001c0001t0060g0156 a0001c0001t0061g0136 a0001c0001t0119g0020	7	11	0.6364	7	c.811 others(24): Show c.811-8779_811-8773dupAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp2 HG01993.hp1 others(5): Show HG00597.hp2 HG01891.hp2 HG01993.hp1 HG02273.hp2 HG03098.hp1 NA18944.hp1 NA19072.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 others(4): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 a0001c0001t0105 a0001c0001t0117 a0001c0002t0006 a0001c0004t0047	a0001c0001t0009g0017 a0001c0001t0009g0187 a0001c0001t0014g0097 others(5): Show a0001c0001t0009g0017 a0001c0001t0009g0187 a0001c0001t0014g0097 a0001c0001t0020g0181 a0001c0001t0105g0063 a0001c0001t0117g0083 a0001c0002t0006g0043 a0001c0004t0047g0190	8	21	0.3810	7	c.482 others(26): Show c.482-36905_482-36899dupTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23837257	T T	TTATATAA TTATATAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03139.hp2 HG03579.hp1 HG02602.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0082 a0001c0001t0112 a0001c0001t0014 a0001c0001t0082 a0001c0001t0112	a0001c0001t0014g0128 a0001c0001t0082g0002 a0001c0001t0112g0001 a0001c0001t0014g0128 a0001c0001t0082g0002 a0001c0001t0112g0001	3	196	0.0153	7	c.481 others(24): Show c.481+8719_481+8725dupTTATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16103993	A A	ATAAAAAT ATAAAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01106.hp2 others(60): Show HG00544.hp1 HG01069.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp2 HG03704.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18960.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19079.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0003t0002 a0001c0003t0010	a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0002g0050 others(60): Show a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0187 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0003g0003 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0171 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0005g0085 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0106 a0001c0001t0005g0157 a0001c0001t0005g0186 a0001c0001t0008g0021 a0001c0001t0008g0086 a0001c0001t0008g0095 a0001c0001t0012g0048 a0001c0001t0016g0054 a0001c0001t0023g0110 a0001c0001t0024g0083 a0001c0001t0030g0206 a0001c0001t0041g0037 a0001c0001t0042g0215 a0001c0003t0002g0081 a0001c0003t0002g0087 a0001c0003t0002g0089 a0001c0003t0002g0116 a0001c0003t0010g0100	63	216	0.2917	7	c.899 others(24): Show c.899-6312_899-6306dupATTTTTA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	7/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16131635	A A	ATAGTACT ATAGTACT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01106.hp2 others(61): Show HG00544.hp1 HG01069.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp2 HG03704.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18960.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19079.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0002t0001 a0001c0003t0002 a0001c0003t0010	a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0002g0050 others(61): Show a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0187 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0003g0003 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0171 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0005g0085 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0106 a0001c0001t0005g0157 a0001c0001t0005g0186 a0001c0001t0008g0021 a0001c0001t0008g0086 a0001c0001t0008g0095 a0001c0001t0012g0048 a0001c0001t0016g0054 a0001c0001t0023g0110 a0001c0001t0024g0083 a0001c0001t0030g0206 a0001c0001t0041g0037 a0001c0001t0042g0215 a0001c0002t0001g0163 a0001c0003t0002g0081 a0001c0003t0002g0087 a0001c0003t0002g0089 a0001c0003t0002g0116 a0001c0003t0010g0100	64	216	0.2963	7	c.778 others(26): Show c.778-19719_778-19713dupAGTACTA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132323	G G	GAAAGAAA GAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18982.hp2 NA19091.hp1 HG02258.hp1 NA18982.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0003 a0001c0002t0006 a0001c0001t0014 a0001c0002t0003 a0001c0002t0006	a0001c0001t0014g0029 a0001c0002t0003g0140 a0001c0002t0006g0136 a0001c0001t0014g0029 a0001c0002t0003g0140 a0001c0002t0006g0136	3	193	0.0155	7	c.778 others(26): Show c.778-20401_778-20400insTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349759	G G	GGAAGGAA GGAAGGAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01106.hp1 HG02040.hp1 others(7): Show HG00544.hp2 HG01106.hp1 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG03831.hp2 NA18968.hp1 NA18984.hp1 NA19002.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0010 a0001c0002t0037	a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0187 others(7): Show a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0187 a0001c0001t0003g0162 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0160 a0001c0002t0001g0163 a0001c0002t0010g0167 a0001c0002t0037g0051	10	207	0.0483	7	c.-5+ others(22): Show c.-5+6334_-5+6335insTTCCTTC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX7_chr8_10718768_10735511	10720468	A A	AAAGAAAG AAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp2 NA19059.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0001c0018 a0001c0021 a0002c0003 a0002c0005 a0003c0009 a0004c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0042 a0001c0002t0001 a0001c0002t0010 a0001c0002t0013 a0001c0002t0019 a0001c0002t0022 a0001c0002t0029 a0001c0002t0043 a0001c0006t0004 a0001c0017t0007 a0001c0018t0001 a0001c0021t0019 a0002c0003t0013 a0002c0005t0001 a0003c0009t0018 a0004c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0020 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0005g0112 a0001c0001t0007g0015 a0001c0001t0007g0095 a0001c0001t0011g0018 a0001c0001t0011g0084 a0001c0001t0013g0126 a0001c0001t0023g0104 a0001c0001t0024g0060 a0001c0001t0027g0105 a0001c0001t0028g0106 a0001c0001t0042g0123 a0001c0002t0001g0003 a0001c0002t0001g0019 a0001c0002t0001g0028 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0057 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0001g0122 a0001c0002t0010g0013 a0001c0002t0013g0125 a0001c0002t0013g0127 a0001c0002t0019g0135 a0001c0002t0022g0085 a0001c0002t0029g0103 a0001c0002t0043g0134 a0001c0006t0004g0030 a0001c0017t0007g0094 a0001c0018t0001g0107 a0001c0021t0019g0136 a0002c0003t0013g0129 a0002c0005t0001g0021 a0003c0009t0018g0046 a0004c0016t0001g0111	160	459	0.3486	7	c.52 others(18): Show c.5269_*5270insCTTTCTT	SOX7	ENSG00000171056.8	transcript	ENST00000304501.2	protein_coding		3299		chr8	TogoVar
SOX7_chr8_10718768_10735511	10733935	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01978.hp2 others(20): Show HG00544.hp1 HG00609.hp2 HG01978.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18961.hp2 NA18973.hp2 NA18988.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0002c0007 a0002c0008 a0002c0022	a0001c0001t0015 a0001c0002t0004 a0001c0002t0005 others(6): Show a0001c0001t0015 a0001c0002t0004 a0001c0002t0005 a0001c0004t0004 a0001c0006t0004 a0002c0003t0004 a0002c0007t0004 a0002c0008t0005 a0002c0022t0004	a0001c0001t0015g0048 a0001c0001t0015g0132 a0001c0002t0004g0047 others(8): Show a0001c0001t0015g0048 a0001c0001t0015g0132 a0001c0002t0004g0047 a0001c0002t0005g0037 a0001c0004t0004g0011 a0001c0006t0004g0030 a0002c0003t0004g0005 a0002c0007t0004g0049 a0002c0007t0004g0137 a0002c0008t0005g0114 a0002c0022t0004g0138	23	425	0.0541	7	c.-35 others(18): Show c.-3503_-3502insTTTTTTT	SOX7	ENSG00000171056.8	transcript	ENST00000304501.2	protein_coding		3425		chr8	TogoVar
SP100_chr2_230411201_230550606	230466184	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp1 HG01433.hp1 others(12): Show HG01123.hp2 HG01346.hp1 HG01433.hp1 HG01981.hp1 HG02572.hp1 HG02602.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03579.hp1 NA18939.hp1 NA19062.hp2 NA19083.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0003t0004	a0001c0001t0002g0105 a0001c0001t0002g0195 a0001c0001t0002g0200 others(12): Show a0001c0001t0002g0105 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0041 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0010g0260 a0001c0001t0014g0206 a0001c0001t0014g0229 a0001c0001t0019g0126 a0001c0003t0004g0099	15	113	0.1327	7	c.114 others(23): Show c.1142-104_1142-98dupAAAAAAA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230326454	C C	CTTAGGTG CTTAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18995.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19067.hp2 NA19068.hp2 NA19080.hp2 NA19082.hp1 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0004 a0001c0018 others(21): Show a0001c0001 a0001c0004 a0001c0018 a0002c0002 a0002c0006 a0002c0013 a0002c0021 a0002c0022 a0002c0024 a0002c0025 a0003c0003 a0004c0005 a0005c0007 a0005c0008 a0005c0026 a0006c0009 a0007c0012 a0007c0019 a0008c0010 a0009c0011 a0010c0015 a0011c0014 a0012c0016 a0013c0023	a0001c0001t0001 a0001c0004t0002 a0001c0004t0004 others(23): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0004 a0001c0018t0001 a0002c0002t0001 a0002c0006t0001 a0002c0013t0001 a0002c0021t0001 a0002c0022t0001 a0002c0024t0001 a0002c0025t0001 a0003c0003t0001 a0003c0003t0003 a0004c0005t0001 a0005c0007t0002 a0005c0008t0001 a0005c0026t0002 a0006c0009t0001 a0007c0012t0001 a0007c0019t0001 a0008c0010t0004 a0009c0011t0001 a0010c0015t0001 a0011c0014t0001 a0012c0016t0001 a0013c0023t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(144): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 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 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0289 a0001c0001t0001g0302 a0001c0004t0002g0002 a0001c0004t0002g0078 a0001c0004t0002g0121 a0001c0004t0002g0141 a0001c0004t0002g0237 a0001c0004t0002g0255 a0001c0004t0002g0257 a0001c0004t0002g0258 a0001c0004t0002g0260 a0001c0004t0002g0267 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0002g0271 a0001c0004t0002g0272 a0001c0004t0002g0273 a0001c0004t0002g0275 a0001c0004t0002g0276 a0001c0004t0002g0298 a0001c0004t0002g0300 a0001c0004t0004g0032 a0001c0004t0004g0034 a0001c0004t0004g0037 a0001c0018t0001g0168 a0002c0002t0001g0012 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0131 a0002c0002t0001g0142 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0234 a0002c0002t0001g0256 a0002c0006t0001g0039 a0002c0006t0001g0153 a0002c0013t0001g0146 a0002c0021t0001g0294 a0002c0022t0001g0156 a0002c0024t0001g0083 a0002c0025t0001g0087 a0003c0003t0001g0015 a0003c0003t0001g0074 a0003c0003t0001g0118 a0003c0003t0001g0137 a0003c0003t0001g0143 a0003c0003t0001g0147 a0003c0003t0001g0154 a0003c0003t0001g0180 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0003g0165 a0003c0003t0003g0262 a0004c0005t0001g0081 a0004c0005t0001g0082 a0004c0005t0001g0086 a0004c0005t0001g0088 a0004c0005t0001g0089 a0004c0005t0001g0090 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0099 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0107 a0004c0005t0001g0110 a0004c0005t0001g0113 a0004c0005t0001g0169 a0004c0005t0001g0170 a0005c0007t0002g0093 a0005c0007t0002g0095 a0005c0007t0002g0108 a0005c0007t0002g0109 a0005c0007t0002g0111 a0005c0007t0002g0112 a0005c0008t0001g0084 a0005c0008t0001g0085 a0005c0008t0001g0091 a0005c0008t0001g0094 a0005c0008t0001g0104 a0005c0026t0002g0100 a0006c0009t0001g0092 a0006c0009t0001g0105 a0006c0009t0001g0106 a0006c0009t0001g0114 a0006c0009t0001g0171 a0007c0012t0001g0029 a0007c0012t0001g0030 a0007c0012t0001g0031 a0007c0019t0001g0040 a0008c0010t0004g0035 a0008c0010t0004g0036 a0008c0010t0004g0125 a0009c0011t0001g0038 a0010c0015t0001g0027 a0011c0014t0001g0261 a0012c0016t0001g0127 a0013c0023t0001g0098	157	334	0.4701	7	c.-81 others(16): Show c.-816_-815insTTAGGTG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding		738		chr2	TogoVar
SP140L_chr2_230322193_230408732	230395061	C C	CAGGTTCA CAGGTTCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00639.hp1 others(57): Show HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18954.hp1 NA18957.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18989.hp2 NA18994.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA20129.hp2 NA20805.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0004 a0001c0017 a0005c0007 others(2): Show a0001c0004 a0001c0017 a0005c0007 a0005c0026 a0008c0010	a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 others(6): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0008 a0001c0017t0002 a0005c0007t0002 a0005c0026t0002 a0008c0010t0004	a0001c0004t0001g0285 a0001c0004t0002g0002 a0001c0004t0002g0019 others(52): Show a0001c0004t0001g0285 a0001c0004t0002g0002 a0001c0004t0002g0019 a0001c0004t0002g0043 a0001c0004t0002g0060 a0001c0004t0002g0061 a0001c0004t0002g0064 a0001c0004t0002g0078 a0001c0004t0002g0121 a0001c0004t0002g0141 a0001c0004t0002g0201 a0001c0004t0002g0218 a0001c0004t0002g0220 a0001c0004t0002g0237 a0001c0004t0002g0243 a0001c0004t0002g0245 a0001c0004t0002g0255 a0001c0004t0002g0257 a0001c0004t0002g0258 a0001c0004t0002g0260 a0001c0004t0002g0267 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0002g0271 a0001c0004t0002g0272 a0001c0004t0002g0273 a0001c0004t0002g0275 a0001c0004t0002g0276 a0001c0004t0002g0287 a0001c0004t0002g0292 a0001c0004t0002g0293 a0001c0004t0002g0295 a0001c0004t0002g0298 a0001c0004t0002g0300 a0001c0004t0004g0022 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0037 a0001c0004t0004g0050 a0001c0004t0004g0209 a0001c0004t0006g0177 a0001c0004t0008g0041 a0001c0017t0002g0296 a0005c0007t0002g0093 a0005c0007t0002g0095 a0005c0007t0002g0108 a0005c0007t0002g0109 a0005c0007t0002g0111 a0005c0007t0002g0112 a0005c0026t0002g0100 a0008c0010t0004g0035 a0008c0010t0004g0036 a0008c0010t0004g0062 a0008c0010t0004g0125	60	334	0.1796	7	c.115 others(26): Show c.1155+1603_1155+1609dupGTTCAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230288518	T T	TTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG02015.hp2 others(23): Show HG00639.hp1 HG01081.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02717.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18943.hp2 NA18963.hp1 NA18986.hp2 NA18989.hp1 NA19003.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19060.hp2 NA19065.hp1 NA19081.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0094 others(22): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0183 a0001c0001t0001g0204 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0258 a0002c0002t0001g0004 a0002c0002t0001g0021 a0002c0002t0001g0328 a0002c0002t0001g0339 a0002c0008t0001g0317	26	314	0.0828	7	c.172 others(24): Show c.1720+558_1720+559insCTTCTTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP2_chr17_47891236_47933957	47919825	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp2 HG01169.hp1 others(17): Show HG01081.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 NA18994.hp2 NA19082.hp1 NA19088.hp1 NA19089.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0170 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0006g0008	20	23	0.8696	7	c.105 others(26): Show c.1059+2711_1059+2717dupTTTTTTT	SP2	ENSG00000167182.16	transcript	ENST00000376741.5	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
SP4_chr7_21423083_21519822	21498061	G G	GAAAATTA GAAAATTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02109.hp1 HG02965.hp1 others(3): Show HG01081.hp2 HG02109.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0014 a0001c0001t0016g0021 a0001c0001t0016g0298 others(2): Show a0001c0001t0016g0014 a0001c0001t0016g0021 a0001c0001t0016g0298 a0001c0001t0016g0299 a0001c0001t0016g0300	6	424	0.0142	7	c.210 others(28): Show c.2108-12958_2108-12952dupAATTAAA	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(51): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02572.hp1 HG02602.hp1 HG02723.hp2 HG02738.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18940.hp1 NA18947.hp1 NA18967.hp1 NA18973.hp1 NA18973.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19055.hp1 NA19067.hp1 NA19077.hp2 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0003g0002	54	70	0.7714	7	c.32 others(18): Show c.3270_*3271insAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT ATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG03130.hp2 others(2): Show HG01884.hp2 HG02145.hp1 HG03130.hp2 HG03540.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0100	5	8	0.6250	7	c.23 others(18): Show c.2380_*2381insTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213292682	A A	ACAACAAC ACAACAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp1 HG02922.hp1 others(4): Show HG01891.hp2 HG02015.hp1 HG02922.hp1 HG02976.hp2 HG03239.hp1 HG03490.hp1 NA19087.hp1	a0001 a0007 a0009 others(2): Show a0001 a0007 a0009 a0010 a0011	a0001c0001 a0007c0007 a0009c0008 others(2): Show a0001c0001 a0007c0007 a0009c0008 a0010c0011 a0011c0009	a0001c0001t0001 a0007c0007t0001 a0009c0008t0001 others(2): Show a0001c0001t0001 a0007c0007t0001 a0009c0008t0001 a0010c0011t0001 a0011c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0007c0007t0001g0083 a0009c0008t0001g0084 a0010c0011t0001g0086 a0011c0009t0001g0085	7	86	0.0814	7	c.137 others(24): Show c.137-3382_137-3381insCAACAAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	1/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213387431	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG01256.hp1 others(7): Show HG00673.hp1 HG00735.hp2 HG01256.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG03831.hp2 NA18993.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0002g0007 a0002c0002t0001g0011 a0002c0002t0001g0049 a0002c0002t0001g0076 a0003c0003t0001g0029	10	16	0.6250	7	c.942 others(26): Show c.942+12335_942+12341dupTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213546580	G G	GGACAAGA GGACAAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02559.hp1 HG02717.hp2 others(15): Show HG02015.hp1 HG02559.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19087.hp1 NA20129.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0009 a0011	a0001c0001 a0002c0002 a0005c0005 others(3): Show a0001c0001 a0002c0002 a0005c0005 a0007c0007 a0009c0008 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0005c0005t0001 a0007c0007t0001 a0009c0008t0001 a0011c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0002g0073 a0002c0002t0002g0074 a0005c0005t0001g0005 a0005c0005t0001g0081 a0007c0007t0001g0083 a0009c0008t0001g0084 a0011c0009t0001g0085	18	86	0.2093	7	c.107 others(28): Show c.1070+56492_1070+56493insCAAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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