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
SNX8_chr7_2246770_2319441	2279239	CGCCGGAC others(22): Show CGCCGGACTCACTCACACTACGGAGTCGAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02622.hp1 others(1): Show HG01109.hp1 HG02280.hp2 HG02622.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0001c0001t0008 a0002c0004t0008 a0001c0001t0005 a0001c0001t0008 a0002c0004t0008	a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0008g0268 others(1): Show a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0008g0268 a0002c0004t0008g0359	4	368	0.0109	-29	c.95- others(42): Show c.95-963_95-935delTTCGACTCCGTAGTGTGAGTGAGTCCGGC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SNX8_chr7_2246770_2319441	2279300	CGGACTCA others(22): Show CGGACTCACTCACACTACGGAGTCGACGCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	368	0.0027	-29	c.95- others(43): Show c.95-1024_95-996delAGCGTCGACTCCGTAGTGTGAGTGAGTCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SNX9_chr6_157818246_157950077	157822446	AAACACTG others(22): Show AAACACTGACAGAAAGATGGAAAATTTTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	300	0.0033	-29	c.-98 others(38): Show c.-988_-960delAACACTGACAGAAAGATGGAAAATTTTAG	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding		799		chr6	TogoVar
SOD2_chr6_159664069_159698241	159668765	CCCCCCAA others(22): Show CCCCCCAACCAAAATCTCAATTTGTTTACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0144 a0001c0001t0050g0144	1	362	0.0028	-29	c.13 others(42): Show c.13699_*13727delTGTAAACAAATTGAGATTTTGGTTGGGGG	SOD2	ENSG00000291237.1	transcript	ENST00000538183.7	protein_coding		303		chr6	TogoVar
SON_chr21_33538038_33582481	33577673	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02071.hp1 NA19030.hp1 HG01346.hp1 HG02071.hp1 NA19030.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0001 a0008c0017t0001 a0001c0001t0001 a0008c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0008c0017t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0008c0017t0001g0002	3	361	0.0083	-29	c.12 others(40): Show c.1250_*1278delCACACACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		193		chr21	TogoVar
SON_chr21_33538038_33582481	33577675	ACACACAC others(22): Show ACACACACACACACACACACACACACACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	359	0.0028	-29	c.12 others(40): Show c.1252_*1280delCACACACACACACACACACACACACACCC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		195		chr21	TogoVar
SORCS2_chr4_7187538_7747827	7441990	CTCCACCT others(22): Show CTCCACCTCCTCTCACAGCCCAGGTCACCA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02486.hp2 HG03209.hp2 others(2): Show HG02056.hp2 HG02486.hp2 HG03209.hp2 HG03471.hp1 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0037 a0003c0013	a0001c0001t0003 a0001c0002t0002 a0001c0003t0002 others(2): Show a0001c0001t0003 a0001c0002t0002 a0001c0003t0002 a0001c0037t0017 a0003c0013t0030	a0001c0001t0003g0168 a0001c0002t0002g0062 a0001c0003t0002g0073 others(2): Show a0001c0001t0003g0168 a0001c0002t0002g0062 a0001c0003t0002g0073 a0001c0037t0017g0017 a0003c0013t0030g0041	5	134	0.0373	-29	c.548 others(48): Show c.548+45642_548+45670delTCCTCTCACAGCCCAGGTCACCATCC ACC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442024	CCCCCTCC others(22): Show CCCCCTCCCCCAGCCCAGATCACCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02970.hp1 NA18906.hp2 HG01934.hp2 HG02970.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0012 a0001c0001 a0001c0002 a0003c0012	a0001c0001t0054 a0001c0002t0003 a0003c0012t0046 a0001c0001t0054 a0001c0002t0003 a0003c0012t0046	a0001c0001t0054g0007 a0001c0002t0003g0082 a0003c0012t0046g0033 a0001c0001t0054g0007 a0001c0002t0003g0082 a0003c0012t0046g0033	3	168	0.0179	-29	c.548 others(48): Show c.548+45698_548+45726delTCCCCTCCCCCAGCCCAGATCACCCT CCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442312	CACCCCCT others(22): Show CACCCCCTCCCCCATCCCAGATCACCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0045 a0001c0002t0010g0045	1	168	0.0060	-29	c.548 others(48): Show c.548+45966_548+45994delCCCCATCCCAGATCACCCTCTACCCC CTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442390	GTCACCAT others(22): Show GTCACCATCCACCCCCTCCCCGAGCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp2 HG03139.hp1 others(1): Show HG01243.hp2 HG02976.hp2 HG03139.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0014 a0001c0015 a0004c0007 a0001c0014 a0001c0015 a0004c0007	a0001c0014t0001 a0001c0015t0011 a0004c0007t0001 others(1): Show a0001c0014t0001 a0001c0015t0011 a0004c0007t0001 a0004c0007t0014	a0001c0014t0001g0040 a0001c0015t0011g0015 a0004c0007t0001g0126 others(1): Show a0001c0014t0001g0040 a0001c0015t0011g0015 a0004c0007t0001g0126 a0004c0007t0014g0166	4	64	0.0625	-29	c.548 others(48): Show c.548+46041_548+46069delATCCACCCCCTCCCCGAGCCCAGATC ACC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442430	CCCCCTCC others(22): Show CCCCCTCCCCCAGCCCAGATCACCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02976.hp2 others(2): Show HG01109.hp2 HG01243.hp2 HG02976.hp2 HG03139.hp1 NA20300.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0014 a0001c0015 a0004c0007 others(1): Show a0001c0014 a0001c0015 a0004c0007 a0008c0056	a0001c0014t0001 a0001c0015t0011 a0004c0007t0001 others(2): Show a0001c0014t0001 a0001c0015t0011 a0004c0007t0001 a0004c0007t0014 a0008c0056t0018	a0001c0014t0001g0040 a0001c0015t0011g0015 a0004c0007t0001g0126 others(2): Show a0001c0014t0001g0040 a0001c0015t0011g0015 a0004c0007t0001g0126 a0004c0007t0014g0166 a0008c0056t0018g0061	5	168	0.0298	-29	c.548 others(48): Show c.548+46104_548+46132delTCCCCTCCCCCAGCCCAGATCACCCT CCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7442459	TCCCCTCC others(22): Show TCCCCTCCCCCAGCCCAGATCACCCTCCAC	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp1 NA18522.hp2 HG02922.hp1 HG06807.hp1 NA18522.hp2	a0001 a0015 a0001 a0015	a0001c0003 a0001c0010 a0015c0054 a0001c0003 a0001c0010 a0015c0054	a0001c0003t0014 a0001c0010t0026 a0015c0054t0020 a0001c0003t0014 a0001c0010t0026 a0015c0054t0020	a0001c0003t0014g0034 a0001c0010t0026g0105 a0015c0054t0020g0113 a0001c0003t0014g0034 a0001c0010t0026g0105 a0015c0054t0020g0113	3	10	0.3000	-29	c.548 others(48): Show c.548+46104_548+46132delTCCCCTCCCCCAGCCCAGATCACCCT CCA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7477377	CGTGGCTG others(22): Show CGTGGCTGATTGGGGCTGACATGGCTGACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(132): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA19000.hp1 NA19000.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(41): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0026 a0001c0028 a0001c0030 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0041 a0001c0047 a0001c0049 a0001c0051 a0002c0004 a0002c0050 a0003c0012 a0003c0013 a0003c0042 a0003c0046 a0004c0007 a0004c0043 a0004c0044 a0005c0018 a0006c0008 a0006c0045 a0007c0027 a0008c0056 a0009c0024 a0010c0032 a0011c0023 a0012c0039 a0013c0055 a0015c0054 a0016c0040	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(102): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 a0001c0001t0029 a0001c0001t0036 a0001c0001t0048 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0021 a0001c0002t0035 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0001c0002t0051 a0001c0002t0053 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0011 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0020 a0001c0003t0050 a0001c0005t0003 a0001c0005t0005 a0001c0005t0008 a0001c0005t0016 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0052 a0001c0009t0001 a0001c0009t0028 a0001c0009t0037 a0001c0010t0059 a0001c0010t0060 a0001c0011t0015 a0001c0011t0045 a0001c0014t0001 a0001c0014t0016 a0001c0015t0011 a0001c0016t0001 a0001c0016t0006 a0001c0017t0002 a0001c0017t0015 a0001c0026t0004 a0001c0028t0027 a0001c0030t0021 a0001c0031t0025 a0001c0033t0062 a0001c0034t0005 a0001c0036t0040 a0001c0041t0006 a0001c0047t0057 a0001c0049t0001 a0001c0051t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0009 a0002c0004t0012 a0002c0004t0022 a0002c0004t0047 a0002c0050t0023 a0003c0012t0034 a0003c0013t0030 a0003c0042t0004 a0003c0046t0001 a0004c0007t0001 a0004c0007t0014 a0004c0043t0031 a0004c0044t0041 a0005c0018t0043 a0006c0008t0001 a0006c0008t0006 a0006c0045t0001 a0007c0027t0002 a0008c0056t0018 a0009c0024t0002 a0010c0032t0019 a0011c0023t0009 a0012c0039t0049 a0013c0055t0006 a0015c0054t0020 a0016c0040t0003	a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0130 others(132): Show a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0130 a0001c0001t0003g0003 a0001c0001t0003g0097 a0001c0001t0003g0168 a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0098 a0001c0001t0005g0014 a0001c0001t0005g0085 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0009g0142 a0001c0001t0010g0129 a0001c0001t0012g0036 a0001c0001t0012g0137 a0001c0001t0017g0052 a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0001t0029g0141 a0001c0001t0036g0106 a0001c0001t0048g0094 a0001c0001t0054g0007 a0001c0001t0055g0092 a0001c0001t0058g0161 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0028 a0001c0002t0003g0082 a0001c0002t0004g0131 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0008g0008 a0001c0002t0008g0121 a0001c0002t0010g0045 a0001c0002t0011g0112 a0001c0002t0021g0090 a0001c0002t0035g0020 a0001c0002t0038g0096 a0001c0002t0039g0070 a0001c0002t0042g0050 a0001c0002t0051g0004 a0001c0002t0053g0115 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0003t0002g0079 a0001c0003t0004g0088 a0001c0003t0005g0086 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0014g0140 a0001c0003t0015g0091 a0001c0003t0016g0023 a0001c0003t0020g0043 a0001c0003t0050g0005 a0001c0005t0003g0101 a0001c0005t0005g0102 a0001c0005t0008g0065 a0001c0005t0008g0154 a0001c0005t0016g0104 a0001c0006t0001g0054 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0006t0002g0165 a0001c0006t0003g0117 a0001c0006t0052g0084 a0001c0009t0001g0151 a0001c0009t0028g0038 a0001c0009t0037g0042 a0001c0010t0059g0163 a0001c0010t0060g0167 a0001c0011t0015g0077 a0001c0011t0045g0107 a0001c0014t0001g0040 a0001c0014t0016g0139 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0016t0001g0009 a0001c0016t0006g0039 a0001c0017t0002g0056 a0001c0017t0015g0124 a0001c0026t0004g0049 a0001c0028t0027g0152 a0001c0030t0021g0109 a0001c0031t0025g0144 a0001c0033t0062g0160 a0001c0034t0005g0093 a0001c0036t0040g0022 a0001c0041t0006g0031 a0001c0047t0057g0051 a0001c0049t0001g0059 a0001c0051t0001g0068 a0002c0004t0002g0127 a0002c0004t0004g0012 a0002c0004t0004g0046 a0002c0004t0004g0095 a0002c0004t0005g0110 a0002c0004t0009g0060 a0002c0004t0009g0078 a0002c0004t0012g0035 a0002c0004t0022g0057 a0002c0004t0022g0114 a0002c0004t0047g0134 a0002c0050t0023g0132 a0003c0012t0034g0010 a0003c0013t0030g0041 a0003c0042t0004g0066 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0001g0126 a0004c0007t0014g0166 a0004c0043t0031g0058 a0004c0044t0041g0016 a0005c0018t0043g0145 a0006c0008t0001g0006 a0006c0008t0001g0029 a0006c0008t0006g0155 a0006c0045t0001g0148 a0007c0027t0002g0116 a0008c0056t0018g0061 a0009c0024t0002g0108 a0010c0032t0019g0149 a0011c0023t0009g0122 a0012c0039t0049g0064 a0013c0055t0006g0150 a0015c0054t0020g0113 a0016c0040t0003g0024	135	168	0.8036	-29	c.549 others(48): Show c.549-54151_549-54123delTGGCTGATTGGGGCTGACATGGCTGA CTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp2 HG02647.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0129 a0001c0003t0003g0055 a0001c0002t0002g0129 a0001c0003t0003g0055	2	22	0.0909	-29	c.627 others(48): Show c.627+42851_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA19240.hp2 HG02886.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	2	7	0.2857	-29	c.21 others(40): Show c.2120_*2148delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp2 HG02698.hp2 others(2): Show HG01433.hp2 HG02145.hp2 HG02698.hp2 HG03017.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0027 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0027 a0001c0001t0036 a0001c0001t0085	a0001c0001t0002g0167 a0001c0001t0017g0042 a0001c0001t0027g0146 others(2): Show a0001c0001t0002g0167 a0001c0001t0017g0042 a0001c0001t0027g0146 a0001c0001t0036g0112 a0001c0001t0085g0029	5	197	0.0254	-29	c.134 others(48): Show c.1342+4707_1342+4735delATATATATATATATATATATATATTT TTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16132289	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	216	0.0046	-29	c.778 others(48): Show c.778-20395_778-20367delCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132394	GAAAGAAA others(22): Show GAAAGAAAAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18992.hp2 HG02129.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0210 a0001c0001t0002g0164 a0001c0001t0002g0210	2	205	0.0098	-29	c.778 others(48): Show c.778-20500_778-20472delTTCTTTCTTTCTTTCTTTCTTTTTTC TTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132398	GAAAAAAG others(22): Show GAAAAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0095 a0001c0001t0008g0095	1	154	0.0065	-29	c.778 others(48): Show c.778-20504_778-20476delTTCTTTCTTTCTTTCTTTCTTTCTTT TTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX8_chr16_976770_991979	978117	CCATACAC others(22): Show CCATACACACACCACACCACACACATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02572.hp1 others(1): Show HG02258.hp2 HG02280.hp1 HG02572.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0002 a0001c0002t0011g0013 a0001c0002t0011g0002 a0001c0002t0011g0013	4	431	0.0093	-29	c.-38 others(40): Show c.-3805_-3777delCATACACACACCACACCACACACATACAT	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		3652		chr16	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0247 a0001c0003t0012g0247	1	2	0.5000	-29	c.205 others(46): Show c.2053-621_2053-593delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140L_chr2_230322193_230408732	230359923	TTAAAGTT others(22): Show TTAAAGTTTGGTATTGGTGCTATACCAAAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00673.hp2 others(41): Show HG00423.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01361.hp1 HG02056.hp2 HG02135.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG03209.hp2 HG03540.hp2 HG03579.hp1 NA18612.hp1 NA18939.hp1 NA18947.hp2 NA18954.hp2 NA18962.hp1 NA18970.hp2 NA18975.hp1 NA18994.hp1 NA18995.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19058.hp1 NA19065.hp1 NA19067.hp1 NA19074.hp1 NA19076.hp2 NA19082.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0003c0003	a0001c0001t0001 a0001c0004t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0002 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0070 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0004t0002g0218 a0001c0004t0002g0220 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0181 a0002c0002t0001g0230 a0002c0002t0001g0242 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0006t0001g0068 a0002c0006t0001g0069 a0002c0006t0001g0291 a0003c0003t0001g0194 a0003c0003t0001g0221 a0003c0003t0001g0278 a0003c0003t0001g0281	44	293	0.1502	-29	c.439 others(44): Show c.439+829_439+857delGGTATTGGTGCTATACCAAACTAAAGTTT	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP2_chr17_47891236_47933957	47911008	TTGAGCCC others(22): Show TTGAGCCCAGGAGTTCGAGAAAAGGCAGGG	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	364	0.0027	-29	c.8-4 others(42): Show c.8-4302_8-4274delGAGCCCAGGAGTTCGAGAAAAGGCAGGGT	SP2	ENSG00000167182.16	transcript	ENST00000376741.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPACA5B_chrX_48125626_48137620	48135313	TCTTTCTT others(22): Show TCTTTCTTTCTTTTCTTTCTTTCTTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02896.hp1 HG02896.hp2 others(2): Show HG02055.hp1 HG02896.hp1 HG02896.hp2 HG03195.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013	5	312	0.0160	-29	c.27 others(40): Show c.2785_*2813delCTTTCTTTCTTTTCTTTCTTTCTTCCTTC	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2694		chrX	TogoVar
SPACA7_chr13_112371355_112439689	112383116	AAAAGAAA others(22): Show AAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01943.hp2 HG02027.hp1 others(10): Show HG01243.hp2 HG01943.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02630.hp2 NA18946.hp1 NA18979.hp1 NA19007.hp2 NA19064.hp1 NA19070.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(9): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0281 a0002c0002t0001g0014 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228	13	294	0.0442	-29	c.94+ others(44): Show c.94+6645_94+6673delAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213593746	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02559.hp1 HG02717.hp2 others(9): Show HG02293.hp1 HG02559.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp2 NA20129.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0009	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0001 a0008c0010t0001 a0009c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0002g0004 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0002c0002t0001g0001 a0002c0002t0001g0010 a0005c0005t0001g0005 a0008c0010t0001g0002 a0009c0008t0001g0084	12	17	0.7059	-29	c.107 others(52): Show c.1070+103674_1070+103702delTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126031	CTTCCTTC others(22): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19090.hp1 HG02109.hp1 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0064 a0003c0003t0003g0019 a0002c0002t0001g0064 a0003c0003t0003g0019	2	86	0.0233	-29	c.159 others(50): Show c.1593+17773_1593+17801delCCTTCCTTCCTTCCTTCCTTCCTT CCTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG9_chr17_50957174_51125868	51053853	AAGTATAT others(22): Show AAGTATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0250 a0001c0007t0001g0250	1	226	0.0044	-29	c.495 others(46): Show c.495+2530_495+2558delATATATATATATATATATATATATATAC T	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51089615	TTATTTTA others(22): Show TTATTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp2 HG02055.hp1 others(15): Show HG01168.hp2 HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04199.hp2 NA18906.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0005 a0002c0003t0007 a0002c0003t0021 others(4): Show a0002c0003t0005 a0002c0003t0007 a0002c0003t0021 a0002c0004t0005 a0002c0004t0007 a0002c0004t0015 a0002c0004t0016	a0002c0003t0005g0094 a0002c0003t0007g0077 a0002c0003t0007g0096 others(15): Show a0002c0003t0005g0094 a0002c0003t0007g0077 a0002c0003t0007g0096 a0002c0003t0007g0102 a0002c0003t0007g0114 a0002c0003t0007g0129 a0002c0003t0007g0168 a0002c0003t0021g0067 a0002c0004t0005g0001 a0002c0004t0005g0003 a0002c0004t0005g0004 a0002c0004t0005g0005 a0002c0004t0005g0006 a0002c0004t0005g0007 a0002c0004t0005g0010 a0002c0004t0007g0009 a0002c0004t0015g0008 a0002c0004t0016g0002	18	290	0.0621	-29	c.304 others(46): Show c.304-9940_304-9912delTATATATATATATATATATATATAAAAT A	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPARCL1_chr4_87468335_87534376	87486888	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0361 a0002c0001t0002g0361	1	40	0.0250	-29	c.153 others(48): Show c.1531+3356_1531+3384delAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SPARCL1	ENSG00000152583.13	transcript	ENST00000282470.11	protein_coding	7/10			chr4	TogoVar
SPATA13_chr13_24155720_24312069	24237886	TAATATAT others(22): Show TAATATATAAACATACATGTTTAAATATGC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18964.hp1 NA19009.hp1 others(1): Show HG04228.hp1 NA18964.hp1 NA19009.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0014 a0001c0001 a0001c0004 a0003c0014	a0001c0001t0002 a0001c0001t0005 a0001c0004t0033 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0033 a0003c0014t0036	a0001c0001t0002g0117 a0001c0001t0005g0067 a0001c0004t0033g0231 others(1): Show a0001c0001t0002g0117 a0001c0001t0005g0067 a0001c0004t0033g0231 a0003c0014t0036g0201	4	251	0.0159	-29	c.165 others(50): Show c.1654-11519_1654-11491delACATGTTTAAATATGCAATATATA AACAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA5_chr4_122918078_123324433	123016087	TCCTCACT others(22): Show TCCTCACTTCCCAGTAGGGGCGGCCGGGCA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0172 a0001c0001t0042g0172	1	259	0.0039	-29	c.187 others(50): Show c.1870-12098_1870-12070delCCTCACTTCCCAGTAGGGGCGGCC GGGCA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15			chr4	TogoVar
SPDYA_chr2_28805834_28855610	28819842	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	331	0.0030	-29	c.294 others(44): Show c.294+738_294+766delAAAAAAATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819844	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 NA19010.hp1 others(1): Show HG03130.hp1 HG03195.hp1 NA19010.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0175 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0175 a0001c0003t0004g0326	4	310	0.0129	-29	c.294 others(44): Show c.294+740_294+768delAAAAATATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819846	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	287	0.0035	-29	c.294 others(44): Show c.294+742_294+770delAAATATATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819848	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03831.hp1 HG01358.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0169 a0001c0001t0001g0182	2	294	0.0068	-29	c.294 others(44): Show c.294+744_294+772delATATATATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819850	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	291	0.0034	-29	c.294 others(44): Show c.294+745_294+773delTATATATATATATATATATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7			chr2	TogoVar
SPDYC_chr11_65165233_65178374	65166379	CTTTTTCT others(22): Show CTTTTTCTTTTTCTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	433	0.0023	-29	c.-39 others(40): Show c.-3913_-3885delTTTTTCTTTTTCTTTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3853		chr11	TogoVar
SPDYE3_chr7_100302702_100327196	100321811	TTTTATTT others(22): Show TTTTATTTATTTAAATATTTATTAAATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0065 a0001c0001t0012g0065	1	339	0.0029	-29	c.10 others(40): Show c.1011_*1039delATTTATTAAATATATTTATTTATTTAAAT	SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	11/11	1866	INFO_REALIGN_3_PRIME	chr7	TogoVar
SPIN1_chr9_88383444_88483694	88434344	GTTTATTT others(22): Show GTTTATTTTATAAATTATAAAATAGTTTAT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG01891.hp2 others(16): Show HG01070.hp2 HG01884.hp2 HG01891.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015	a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 others(16): Show a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0070 a0001c0001t0015g0058	19	174	0.1092	-29	c.52+ others(44): Show c.52+7759_52+7787delTTTATAAATTATAAAATAGTTTATTTTAT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88434359	TATAAAAT others(22): Show TATAAAATAGTTTATTTTATAAATTATAAA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	174	0.0057	-29	c.52+ others(44): Show c.52+7772_52+7800delAAATAGTTTATTTTATAAATTATAAAATA	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIRE1_chr18_12441512_12663107	12599926	ATGTTCAC others(22): Show ATGTTCACTATTACAAATACATGATTATAT	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	326	0.0031	-29	c.372 others(48): Show c.372+35107_372+35135delATATAATCATGTATTTGTAATAGTGA ACA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPNS2_chr17_4493881_4544035	4540113	TGAGGGTC others(22): Show TGAGGGTCCTGCGAGGCCCCTGGGTCCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0175 a0001c0001t0029g0175	1	402	0.0025	-29	c.26 others(40): Show c.2666_*2694delGAGGGTCCTGCGAGGCCCCTGGGTCCTGC	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		1079		chr17	TogoVar
SPNS2_chr17_4493881_4544035	4540130	CCCTGGGT others(22): Show CCCTGGGTCCTGCGAGGGTCCTGCGAGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	401	0.0025	-29	c.26 others(40): Show c.2683_*2711delCCTGGGTCCTGCGAGGGTCCTGCGAGGCT	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		1096		chr17	TogoVar
SPNS2_chr17_4493881_4544035	4540234	ATGCGTGT others(22): Show ATGCGTGTGCAGTGTGCGTGTGCAGCAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0034 a0001c0001t0007g0178 a0001c0001t0006g0034 a0001c0001t0007g0178	2	391	0.0051	-29	c.27 others(40): Show c.2787_*2815delTGCGTGTGCAGTGTGCGTGTGCAGCAGCG	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		1200		chr17	TogoVar
SPOCK3_chr4_166728384_167239494	167205242	TTATATAT others(22): Show TTATATATTATATATATTTTATATCTATAA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02004.hp2 HG06807.hp1 HG01981.hp1 HG02004.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0029 a0001c0001t0002g0083 a0001c0001t0004g0028 a0001c0001t0002g0029 a0001c0001t0002g0083 a0001c0001t0004g0028	3	139	0.0216	-29	c.189 others(48): Show c.189+28714_189+28742delTTATAGATATAAAATATATATAATAT ATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02976.hp1 HG02976.hp2 others(4): Show HG01978.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03471.hp1 NA18954.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0003t0012	a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0003g0198 others(4): Show a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0003g0198 a0001c0001t0007g0210 a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0003t0012g0116	7	8	0.8750	-29	c.677 others(48): Show c.677-21828_677-21800delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14161130	TTATATAT others(22): Show TTATATATATCTATATATCTATATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	152	0.0066	-29	c.825 others(48): Show c.825+25570_825+25598delATCTATATATCTATATATTTTATATA TAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPRED2_chr2_65305851_65437599	65342323	ATTTTGTA others(22): Show ATTTTGTATACGTATATTATGTATGTATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	274	0.0036	-29	c.204 others(46): Show c.204+2367_204+2395delATATACATACATAATATACGTATACAAA A	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRN_chr10_133415666_133429625	133415954	AGGCACGC others(22): Show AGGCACGCGGGTGTCGGGCAGGCGGGTGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	472	0.0021	-29	c.72 others(40): Show c.7243_*7271delGACACCCGCCTGCCCGACACCCGCGTGCC	SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding		4711		chr10	TogoVar

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