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
SORCS3_chr10_104636290_105270242	105009519	CAAACAAA others(3): Show CAAACAAACAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	134	0.0075	-10	c.954 others(29): Show c.954+32030_954+32039delCAAACAAAAA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105031322	CACACACA others(3): Show CACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp1 HG03471.hp1 others(4): Show HG02970.hp2 HG03139.hp1 HG03471.hp1 NA18906.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0005c0007t0001	a0001c0001t0001g0122 a0001c0001t0002g0011 a0001c0001t0002g0063 others(4): Show a0001c0001t0001g0122 a0001c0001t0002g0011 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0004g0067 a0005c0007t0001g0061 a0005c0007t0001g0062	7	134	0.0522	-10	c.955 others(29): Show c.955-11723_955-11714delAACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105044701	TTGTTGTT others(3): Show TTGTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0064 a0001c0018t0002g0064	1	134	0.0075	-10	c.102 others(29): Show c.1028+1585_1028+1594delGTTGTTTTGT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105077557	CACACACA others(3): Show CACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00741.hp2 others(7): Show HG00140.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0009t0002	a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0042 others(7): Show a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0004g0048 a0003c0009t0002g0096 a0003c0009t0002g0097	10	134	0.0746	-10	c.102 others(31): Show c.1029-12216_1029-12207delCACACACAGA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105078290	TGCACAGG others(3): Show TGCACAGGGAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0038 a0001c0001t0004g0039	2	134	0.0149	-10	c.102 others(31): Show c.1029-11480_1029-11471delAGGGAGGCAC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105163878	GCACATAC others(3): Show GCACATACACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG00140.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0048 a0001c0001t0009g0080 a0001c0001t0004g0048 a0001c0001t0009g0080	2	134	0.0149	-10	c.173 others(27): Show c.1733-420_1733-411delTACACACACA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105227985	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	134	0.0075	-10	c.286 others(29): Show c.2868+4776_2868+4785delGTGTGTGTGT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242484	TTATATAT others(3): Show TTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG00741.hp1 others(50): Show HG00609.hp2 HG00642.hp2 HG00741.hp1 HG01071.hp1 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18970.hp1 NA18988.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19090.hp1 NA20300.hp2	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0004c0008 a0005c0007 a0006c0010 a0008c0014 a0009c0020 a0010c0021 a0011c0017 a0012c0012	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0005t0001 a0004c0008t0001 a0005c0007t0001 a0006c0010t0001 a0008c0014t0001 a0009c0020t0001 a0010c0021t0001 a0011c0017t0003 a0012c0012t0001	a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0041 others(50): Show a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0079 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0065 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0105 a0001c0002t0001g0114 a0001c0002t0001g0134 a0001c0002t0002g0108 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0002t0005g0074 a0001c0002t0006g0071 a0001c0002t0007g0078 a0001c0002t0008g0013 a0001c0002t0011g0020 a0001c0005t0001g0007 a0001c0005t0001g0081 a0001c0005t0001g0092 a0004c0008t0001g0005 a0004c0008t0001g0126 a0005c0007t0001g0061 a0005c0007t0001g0062 a0006c0010t0001g0068 a0008c0014t0001g0015 a0009c0020t0001g0024 a0010c0021t0001g0117 a0011c0017t0003g0088 a0012c0012t0001g0003	53	134	0.3955	-10	c.286 others(29): Show c.2869-3033_2869-3024delTATTTATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242519	CATTTATA others(3): Show CATTTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01106.hp1 others(7): Show HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp2 HG02280.hp2 HG06807.hp1 NA19003.hp1 NA19079.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0013 a0013c0016 a0001c0001 a0002c0013 a0013c0016	a0001c0001t0004 a0001c0001t0009 a0002c0013t0002 others(1): Show a0001c0001t0004 a0001c0001t0009 a0002c0013t0002 a0013c0016t0004	a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0039 others(7): Show a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0067 a0001c0001t0004g0094 a0001c0001t0004g0125 a0001c0001t0009g0080 a0002c0013t0002g0131 a0013c0016t0004g0059	10	134	0.0746	-10	c.286 others(29): Show c.2869-3002_2869-2993delATTTATATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORD_chr15_45018195_45082185	45081508	TTTTTTTT others(3): Show TTTTTTTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0010 a0002c0007t0010	a0002c0007t0010g0087 a0002c0007t0010g0097 a0002c0007t0010g0098 a0002c0007t0010g0087 a0002c0007t0010g0097 a0002c0007t0010g0098	3	308	0.0097	-10	c.79 others(21): Show c.7979_*7988delTTTTTTTTTC	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding		4324		chr15	TogoVar
SORL1_chr11_121447314_121638763	121570744	TTAGTAAT others(3): Show TTAGTAATGCA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0010 a0010	a0010c0044 a0010c0044	a0010c0044t0002 a0010c0044t0002	a0010c0044t0002g0069 a0010c0044t0002g0069	1	272	0.0037	-10	c.333 others(27): Show c.3337+478_3337+487delTAATGCATAG	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121585500	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG06807.hp1 HG03540.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0046 a0002c0005 a0001c0046 a0002c0005	a0001c0046t0002 a0002c0005t0003 a0001c0046t0002 a0002c0005t0003	a0001c0046t0002g0174 a0002c0005t0003g0159 a0001c0046t0002g0174 a0002c0005t0003g0159	2	272	0.0074	-10	c.370 others(27): Show c.3707-693_3707-684delACACACACAC	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109326456	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02280.hp2 others(7): Show HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02886.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0005 a0005c0010 a0001c0003 a0001c0005 a0005c0010	a0001c0003t0005 a0001c0005t0038 a0005c0010t0005 a0001c0003t0005 a0001c0005t0038 a0005c0010t0005	a0001c0003t0005g0015 a0001c0003t0005g0016 a0001c0003t0005g0017 others(7): Show a0001c0003t0005g0015 a0001c0003t0005g0016 a0001c0003t0005g0017 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0023 a0001c0005t0038g0163 a0005c0010t0005g0018	10	240	0.0417	-10	c.164 others(27): Show c.1643+526_1643+535delGTATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109326460	TATATACA others(3): Show TATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02683.hp1 others(1): Show HG01081.hp2 HG01243.hp1 HG02683.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0109	4	240	0.0167	-10	c.164 others(27): Show c.1643+522_1643+531delGTATGTATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109326462	TATACATA others(3): Show TATACATACAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03927.hp1 NA21309.hp2 HG03710.hp2 HG03927.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0063 a0001c0001t0002g0191 a0001c0001t0002g0012 a0001c0001t0002g0063 a0001c0001t0002g0191	3	240	0.0125	-10	c.164 others(27): Show c.1643+520_1643+529delGTGTATGTAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	13/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109337355	TCCTGCCT others(3): Show TCCTGCCTCAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02280.hp2 others(9): Show HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0010 a0001c0003 a0005c0010	a0001c0003t0005 a0001c0003t0012 a0005c0010t0005 a0001c0003t0005 a0001c0003t0012 a0005c0010t0005	a0001c0003t0005g0015 a0001c0003t0005g0016 a0001c0003t0005g0017 others(9): Show a0001c0003t0005g0015 a0001c0003t0005g0016 a0001c0003t0005g0017 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0023 a0001c0003t0012g0154 a0001c0003t0012g0155 a0001c0003t0012g0156 a0005c0010t0005g0018	12	240	0.0500	-10	c.126 others(29): Show c.1265-1019_1265-1010delTTGAGGCAGG	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	10/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109351965	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp1 NA19066.hp2 HG02647.hp2 HG02717.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0037	3	240	0.0125	-10	c.709 others(25): Show c.709-973_709-964delACACACACAC	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	5/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109378698	TGATATAT others(3): Show TGATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0181 a0001c0003t0004g0181	1	240	0.0042	-10	c.307 others(27): Show c.307-9119_307-9110delTATATATATC	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109378699	GATATATA others(3): Show GATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp1 HG01516.hp1 others(16): Show HG00642.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01978.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02683.hp1 HG02818.hp2 HG03579.hp1 HG03704.hp2 NA18522.hp2 NA18971.hp2 NA18990.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0009c0013 a0001c0001 a0001c0004 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0004t0004 a0009c0013t0001	a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0002g0013 others(15): Show a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0002g0013 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0117 a0001c0001t0009g0119 a0001c0001t0011g0041 a0001c0001t0023g0072 a0001c0004t0004g0001 a0001c0004t0004g0159 a0001c0004t0004g0175 a0009c0013t0001g0093	19	240	0.0792	-10	c.307 others(27): Show c.307-9120_307-9111delATATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SORT1_chr1_109304575_109402918	109378753	TATATATA others(3): Show TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0158 a0001c0004t0004g0158	1	240	0.0042	-10	c.307 others(27): Show c.307-9174_307-9165delTTATATATAT	SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19			chr1	TogoVar
SOS1_chr2_38976549_39126051	39082481	AAGAGAAA others(3): Show AAGAGAAACAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01106.hp2 others(20): Show HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01496.hp2 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG02280.hp2 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 NA18906.hp2 NA18952.hp1 NA18956.hp1 NA18982.hp1 NA18998.hp1 NA19003.hp2 NA19012.hp2 NA19068.hp1 NA19074.hp1 NA19083.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0016	a0001c0001t0001g0152 a0001c0001t0005g0045 a0001c0002t0003g0138 others(20): Show a0001c0001t0001g0152 a0001c0001t0005g0045 a0001c0002t0003g0138 a0001c0002t0004g0003 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0005g0004 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0063 a0001c0002t0005g0064 a0001c0002t0008g0015 a0001c0002t0008g0016 a0001c0002t0008g0017 a0001c0002t0016g0033	23	246	0.0935	-10	c.88- others(27): Show c.88-14738_88-14729delCTGTTTCTCT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39102204	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG02723.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0021 a0001c0001t0022	a0001c0001t0021g0034 a0001c0001t0022g0035 a0001c0001t0021g0034 a0001c0001t0022g0035	2	246	0.0081	-10	c.87+ others(27): Show c.87+18122_87+18131delTTTTTTTTTT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39110039	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	246	0.0041	-10	c.87+ others(27): Show c.87+10287_87+10296delACACACACAC	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS2_chr14_50112130_50236578	50115160	TTTTTTTT others(3): Show TTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18991.hp2 HG00544.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0308 a0001c0001t0001g0291 a0001c0001t0001g0308	2	382	0.0052	-10	c.31 others(21): Show c.3174_*3183delCAAAAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding		1969		chr14	TogoVar
SOS2_chr14_50112130_50236578	50156257	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19011.hp1 NA19085.hp2 NA18952.hp2 NA19011.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103	3	382	0.0079	-10	c.205 others(27): Show c.2057+732_2057+741delGTGTGTGTGT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	12/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50160379	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02897.hp2 HG02280.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0139 a0001c0002t0001g0343 a0001c0001t0001g0139 a0001c0002t0001g0343	2	382	0.0052	-10	c.119 others(27): Show c.1197-303_1197-294delAAAAAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	9/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50178668	GTGCATAT others(3): Show GTGCATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01070.hp1 others(8): Show HG00544.hp1 HG00673.hp1 HG01070.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG02145.hp2 HG02280.hp2 HG02809.hp1 HG03239.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0171 others(8): Show a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0008g0229	11	382	0.0288	-10	c.969 others(27): Show c.969+1894_969+1903delTATATATGCA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50178670	GCATATAT others(3): Show GCATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00558.hp2 others(105): Show HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01123.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19078.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0003c0006 a0005c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0003t0001 a0001c0003t0007 a0001c0011t0001 a0003c0006t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0224 a0001c0001t0001g0345 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0224 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0125 a0001c0002t0001g0158 a0001c0002t0001g0278 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0009g0057 a0001c0002t0010g0378 a0001c0002t0013g0381 a0001c0003t0001g0036 a0001c0003t0001g0048 a0001c0003t0001g0093 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351 a0001c0003t0001g0352 a0001c0003t0007g0315 a0001c0011t0001g0344 a0003c0006t0001g0027 a0003c0006t0001g0361 a0005c0010t0001g0058	108	382	0.2827	-10	c.969 others(27): Show c.969+1892_969+1901delTATATATATG	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	7/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50209274	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG03209.hp1 others(2): Show HG01884.hp2 HG02280.hp2 HG03209.hp1 HG03453.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0016 a0001c0001 a0001c0002 a0002c0016	a0001c0001t0001 a0001c0002t0001 a0002c0016t0001 a0001c0001t0001 a0001c0002t0001 a0002c0016t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(2): Show a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0002t0001g0082 a0002c0016t0001g0377	5	382	0.0131	-10	c.88- others(25): Show c.88-4875_88-4866delACACACACAC	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOS2_chr14_50112130_50236578	50224314	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18612.hp2 HG01975.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0293 a0001c0002t0001g0030 a0001c0001t0001g0293 a0001c0002t0001g0030	2	382	0.0052	-10	c.87+ others(25): Show c.87+6873_87+6882delGTGTGTGTGT	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22			chr14	TogoVar
SOSTDC1_chr7_16456481_16470738	16470044	TTATATAT others(3): Show TTATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01433.hp1 others(25): Show HG00639.hp2 HG01081.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp2 HG02559.hp2 HG02602.hp1 HG03130.hp1 HG03209.hp2 HG03669.hp1 HG03831.hp1 NA18954.hp1 NA18975.hp2 NA18993.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19070.hp2 NA19076.hp2 NA19080.hp2 NA19089.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0002g0001 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0051 a0001c0001t0003g0005	28	422	0.0664	-10	c.-43 others(21): Show c.-4386_-4377delTATATATATA	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4307		chr7	TogoVar
SOSTDC1_chr7_16456481_16470738	16470083	TATATATA others(3): Show TATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG03942.hp2 NA18993.hp1 others(1): Show HG01346.hp1 HG03942.hp2 NA18993.hp1 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0002g0001 a0002c0002t0001g0013 a0001c0001t0001g0011 a0001c0001t0002g0001 a0002c0002t0001g0013	4	422	0.0095	-10	c.-44 others(21): Show c.-4425_-4416delTTATATATAT	SOSTDC1	ENSG00000171243.8	transcript	ENST00000307068.5	protein_coding		4346		chr7	TogoVar
SOST_chr17_43748738_43763791	43749388	TCACACAC others(3): Show TCACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG03471.hp1 others(1): Show HG02717.hp2 HG03225.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0006 others(1): Show a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0003g0026	4	422	0.0095	-10	c.59 others(21): Show c.5944_*5953delTGTGTGTGTG	SOST	ENSG00000167941.3	transcript	ENST00000301691.3	protein_coding		4349		chr17	TogoVar
SOST_chr17_43748738_43763791	43763014	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	-10	c.-42 others(21): Show c.-4283_-4274delAAAAAAAAAA	SOST	ENSG00000167941.3	transcript	ENST00000301691.3	protein_coding		4224		chr17	TogoVar
SOWAHA_chr5_132808302_132821786	132820737	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02055.hp1 others(10): Show HG00639.hp2 HG01243.hp2 HG02055.hp1 HG02280.hp1 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0000 a0001c0003t0003g0000 a0001c0003t0001g0000 a0001c0003t0003g0000	13	404	0.0322	-10	c.54 others(21): Show c.5467_*5476delTTTTTTTTTT	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		3952		chr5	TogoVar
SOWAHB_chr4_76889152_76903144	76890601	TGACAGCA others(3): Show TGACAGCAGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG01106.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	438	0.0046	-10	c.48 others(21): Show c.4857_*4866delTCCTGCTGTC	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding		3550		chr4	TogoVar
SOWAHD_chrX_119753588_119765202	119753620	TCAAAACA others(3): Show TCAAAACAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	322	0.0031	-10	c.-50 others(21): Show c.-5047_-5038delCAAAACAAAA	SOWAHD	ENSG00000187808.5	transcript	ENST00000343905.5	protein_coding		4967		chrX	TogoVar
SOX10_chr22_37967312_37989555	37974237	GAAGCAGG others(3): Show GAAGCAGGTTA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	336	0.0030	-10	c.698 others(23): Show c.698-49_698-40delTAACCTGCTT	SOX10	ENSG00000100146.20	transcript	ENST00000396884.8	protein_coding	3/3			chr22	TogoVar
SOX10_chr22_37967312_37989555	37985818	AACACACA others(3): Show AACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03834.hp2 HG02970.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0001 a0001c0001t0001g0058	2	336	0.0060	-10	c.-15 others(21): Show c.-1574_-1565delGTGTGTGTGT	SOX10	ENSG00000100146.20	transcript	ENST00000396884.8	protein_coding		1264		chr22	TogoVar
SOX12_chr20_320552_335224	332540	CGGAGTGA others(3): Show CGGAGTGATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02109.hp2 others(28): Show HG01496.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA18943.hp1 NA18964.hp1 NA18970.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(10): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0058 a0001c0001t0061 a0002c0003t0007 a0002c0003t0057	a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 others(10): Show a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0027g0000 a0001c0001t0028g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0034g0000 a0001c0001t0058g0000 a0001c0001t0061g0000 a0002c0003t0007g0000 a0002c0003t0057g0000	31	400	0.0775	-10	c.56 others(21): Show c.5669_*5678delGGAGTGATCT	SOX12	ENSG00000177732.9	transcript	ENST00000342665.5	protein_coding		2317		chr20	TogoVar
SOX13_chr1_204068115_204132743	204099424	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01081.hp2 others(14): Show HG00323.hp1 HG00733.hp1 HG01081.hp2 HG02071.hp1 HG02074.hp2 HG02486.hp1 HG02895.hp1 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03486.hp2 HG03834.hp2 HG04184.hp1 NA18991.hp2 NA19030.hp1 NA19043.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020	a0001c0001t0001g0197 a0001c0001t0004g0020 a0001c0001t0004g0025 others(14): Show a0001c0001t0001g0197 a0001c0001t0004g0020 a0001c0001t0004g0025 a0001c0001t0004g0188 a0001c0001t0005g0049 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0287 a0001c0001t0010g0021 a0001c0001t0010g0024 a0001c0001t0010g0028 a0001c0001t0010g0031 a0001c0001t0011g0027 a0001c0001t0011g0029 a0001c0001t0011g0030 a0001c0001t0012g0286 a0001c0001t0020g0026	17	364	0.0467	-10	c.-1- others(27): Show c.-1-13477_-1-13468delTTTTTTTTTT	SOX13	ENSG00000143842.15	transcript	ENST00000367204.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01257.hp1 HG01261.hp1 others(6): Show HG01169.hp1 HG01257.hp1 HG01261.hp1 HG01516.hp1 HG02027.hp2 HG02300.hp2 HG03927.hp2 NA19078.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	412	0.0218	-10	c.21 others(21): Show c.2120_*2129delTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX30_chr5_157620679_157657438	157628365	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp2 others(38): Show HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp2 HG02572.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG04115.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18948.hp1 NA18954.hp1 NA18963.hp1 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19062.hp2 NA19065.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0014 a0015	a0001c0001 a0002c0004 a0004c0007 others(3): Show a0001c0001 a0002c0004 a0004c0007 a0010c0019 a0014c0014 a0015c0018	a0001c0001t0002 a0002c0004t0001 a0004c0007t0001 others(3): Show a0001c0001t0002 a0002c0004t0001 a0004c0007t0001 a0010c0019t0001 a0014c0014t0001 a0015c0018t0001	a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 others(25): Show a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0002c0004t0001g0008 a0002c0004t0001g0009 a0002c0004t0001g0018 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0245 a0002c0004t0001g0246 a0002c0004t0001g0247 a0002c0004t0001g0248 a0002c0004t0001g0250 a0002c0004t0001g0252 a0002c0004t0001g0253 a0002c0004t0001g0255 a0002c0004t0001g0256 a0002c0004t0001g0257 a0004c0007t0001g0111 a0004c0007t0001g0112 a0004c0007t0001g0113 a0004c0007t0001g0114 a0004c0007t0001g0115 a0010c0019t0001g0254 a0014c0014t0001g0064 a0015c0018t0001g0249	41	394	0.1041	-10	c.188 others(29): Show c.1881-1654_1881-1645delTGTGTGTGTG	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX30_chr5_157620679_157657438	157631060	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02015.hp2 HG02109.hp2 others(2): Show HG00140.hp2 HG02015.hp2 HG02109.hp2 HG02976.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0093 a0001c0002t0001g0108 others(1): Show a0001c0002t0001g0024 a0001c0002t0001g0093 a0001c0002t0001g0108 a0001c0002t0001g0109	5	394	0.0127	-10	c.188 others(29): Show c.1881-4349_1881-4340delGTATATATAT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX30_chr5_157620679_157657438	157632047	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0269 a0001c0026t0001g0269	1	394	0.0025	-10	c.188 others(29): Show c.1881-5336_1881-5327delTTTTTTTTTT	SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4			chr5	TogoVar
SOX3_chrX_140497985_140510069	140506970	TGTGTGTG others(3): Show TGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00733.hp2 others(21): Show HG00323.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02922.hp1 HG03195.hp2 NA18946.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0000 a0001c0004t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0001c0004t0001g0000 a0002c0002t0001g0000	24	339	0.0708	-10	c.-19 others(21): Show c.-1920_-1911delGCACACACAC	SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding		1902		chrX	TogoVar
SOX4_chr6_21588751_21603619	21588964	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02145.hp2 HG02280.hp1 others(2): Show HG00741.hp1 HG02145.hp2 HG02280.hp1 HG02818.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0018 a0002c0002t0007 a0002c0002t0018	a0002c0002t0007g0000 a0002c0002t0018g0000 a0002c0002t0007g0000 a0002c0002t0018g0000	5	356	0.0140	-10	c.-55 others(21): Show c.-5570_-5561delTTTTTTTTTT	SOX4	ENSG00000124766.7	transcript	ENST00000244745.4	protein_coding		4786		chr6	TogoVar
SOX4_chr6_21588751_21603619	21603288	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	356	0.0028	-10	c.73 others(21): Show c.7330_*7339delTGTGTGTGTG	SOX4	ENSG00000124766.7	transcript	ENST00000244745.4	protein_coding		4670		chr6	TogoVar
SOX5_chr12_23524504_23954670	23570924	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0207 a0001c0001t0084g0207	1	212	0.0047	-10	c.134 others(29): Show c.1342+4727_1342+4736delATATTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23570928	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 NA18906.hp2 HG02647.hp1 HG02896.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0060 a0001c0001t0118 a0001c0001t0018 a0001c0001t0060 a0001c0001t0118	a0001c0001t0018g0169 a0001c0001t0060g0156 a0001c0001t0118g0007 a0001c0001t0018g0169 a0001c0001t0060g0156 a0001c0001t0118g0007	3	212	0.0142	-10	c.134 others(29): Show c.1342+4723_1342+4732delATATATATTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar

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