Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03704.hp2 HG00597.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0239 a0001c0001t0014g0250 a0001c0001t0001g0239 a0001c0001t0014g0250	2	330	0.0061	27	c.-11 others(46): Show c.-114-1498_-114-1497insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A5_chr16_87825023_87874507	87872945	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA18906.hp2 NA20129.hp2 HG02886.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0010 a0001c0002t0008 a0001c0002t0010	a0001c0002t0008g0037 a0001c0002t0008g0038 a0001c0002t0010g0034 a0001c0002t0008g0037 a0001c0002t0008g0038 a0001c0002t0010g0034	3	390	0.0077	27	c.-35 others(38): Show c.-3524_-3523insAGAGAGAGAGAGAAAGAAAGAAAGAAA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3439		chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87873028	T T	TTCTTTCT others(20): Show TTCTTTCTTTCTTTTCTTTCTGACAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0334 a0001c0001t0025g0334	1	390	0.0026	27	c.-36 others(38): Show c.-3607_-3606insTCTTGTCAGAAAGAAAAGAAAGAAAGA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3522		chr16	TogoVar
SLC7A6_chr16_68259526_68306819	68291762	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	282	0.0036	27	c.102 others(44): Show c.1022+101_1022+102insTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	7/10			chr16	TogoVar
SLC7A9_chr19_32825511_32874767	32844857	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0028 a0002c0003t0002g0028	1	404	0.0025	27	c.978 others(42): Show c.978-907_978-906insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC7A9	ENSG00000021488.13	transcript	ENST00000023064.9	protein_coding	9/12			chr19	TogoVar
SLC8B1_chr12_113293771_113340109	113325995	A A	AAATGGAA others(20): Show AAATGGAATGATTCCCCTTTAACATATG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	284	0.0035	27	c.157 others(44): Show c.157-4674_157-4648dupCATATGTTAAAGGGGAATCATTCCATT	SLC8B1	ENSG00000089060.12	transcript	ENST00000680972.1	protein_coding	2/15			chr12	TogoVar
SLC9A3_chr5_465456_529449	474795	G G	GGGAGAGA others(20): Show GGGAGAGAGCCAGGTTCAGGTCCAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00735.hp2 others(19): Show HG00099.hp1 HG00323.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01361.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02922.hp2 HG03453.hp1 HG03688.hp2 HG04115.hp1 NA18943.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0001c0030 others(3): Show a0001c0003 a0001c0009 a0001c0030 a0002c0004 a0002c0005 a0002c0006	a0001c0003t0008 a0001c0009t0008 a0001c0030t0008 others(8): Show a0001c0003t0008 a0001c0009t0008 a0001c0030t0008 a0002c0004t0006 a0002c0004t0015 a0002c0004t0025 a0002c0005t0002 a0002c0005t0006 a0002c0005t0016 a0002c0006t0006 a0002c0006t0026	a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 others(18): Show a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0001c0003t0008g0118 a0001c0003t0008g0152 a0001c0009t0008g0151 a0001c0030t0008g0150 a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0037 a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0002g0153 a0002c0005t0006g0213 a0002c0005t0006g0214 a0002c0005t0006g0215 a0002c0005t0016g0002 a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047	22	218	0.1009	27	c.250 others(42): Show c.2501+87_2501+88insTCCCTGGACCTGAACCTGGCTCTCTCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507166	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	218	0.0046	27	c.212 others(46): Show c.212-15096_212-15095insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	515996	G G	GCCCCTCA others(20): Show GCCCCTCACACACACACACTCCCCCTGC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0004 a0001c0031t0004	a0001c0031t0004g0159 a0001c0031t0004g0159	1	218	0.0046	27	c.211 others(44): Show c.211+8089_211+8115dupGCAGGGGGAGTGTGTGTGTGTGAGGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	528381	G G	GCTGCGGG others(20): Show GCTGCGGGGCGTGGGGGGGTCGTGCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(173): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0007 others(25): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0020 a0001c0021 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0031 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0010 a0002c0011 a0002c0029 a0003c0014 a0003c0032 a0004c0012 a0005c0013 a0006c0015 a0007c0016 a0008c0023 a0009c0022 a0010c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(57): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0033 a0001c0003t0008 a0001c0003t0009 a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0001c0008t0001 a0001c0008t0005 a0001c0008t0018 a0001c0009t0008 a0001c0009t0009 a0001c0020t0004 a0001c0021t0032 a0001c0024t0004 a0001c0026t0012 a0001c0027t0007 a0001c0028t0011 a0001c0031t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0019 a0002c0002t0020 a0002c0002t0029 a0002c0004t0006 a0002c0004t0015 a0002c0004t0025 a0002c0005t0002 a0002c0005t0006 a0002c0005t0016 a0002c0006t0006 a0002c0006t0026 a0002c0010t0002 a0002c0010t0003 a0002c0010t0028 a0002c0011t0002 a0002c0011t0003 a0002c0029t0002 a0003c0014t0001 a0003c0032t0007 a0004c0012t0013 a0005c0013t0003 a0006c0015t0007 a0007c0016t0002 a0008c0023t0007 a0009c0022t0005 a0010c0017t0004	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0016 others(172): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0027 a0001c0001t0004g0055 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0138 a0001c0001t0005g0166 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0185 a0001c0001t0005g0190 a0001c0001t0005g0205 a0001c0001t0007g0065 a0001c0001t0010g0062 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0011g0117 a0001c0001t0011g0154 a0001c0001t0012g0182 a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0001t0017g0003 a0001c0001t0021g0127 a0001c0001t0022g0070 a0001c0001t0023g0074 a0001c0001t0024g0119 a0001c0001t0027g0144 a0001c0001t0033g0188 a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0001c0003t0008g0118 a0001c0003t0008g0152 a0001c0003t0009g0007 a0001c0007t0001g0045 a0001c0007t0005g0187 a0001c0007t0012g0176 a0001c0008t0001g0158 a0001c0008t0005g0208 a0001c0008t0005g0216 a0001c0008t0018g0124 a0001c0009t0008g0151 a0001c0009t0009g0081 a0001c0009t0009g0090 a0001c0020t0004g0102 a0001c0021t0032g0204 a0001c0024t0004g0140 a0001c0026t0012g0212 a0001c0027t0007g0136 a0001c0028t0011g0085 a0001c0031t0004g0159 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0015 a0002c0002t0002g0023 a0002c0002t0002g0049 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0076 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0110 a0002c0002t0002g0145 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0003g0163 a0002c0002t0003g0165 a0002c0002t0003g0168 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0183 a0002c0002t0003g0186 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0206 a0002c0002t0003g0211 a0002c0002t0003g0217 a0002c0002t0019g0018 a0002c0002t0020g0115 a0002c0002t0029g0179 a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0037 a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0002g0153 a0002c0005t0006g0213 a0002c0005t0006g0214 a0002c0005t0006g0215 a0002c0005t0016g0002 a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047 a0002c0010t0002g0093 a0002c0010t0003g0201 a0002c0010t0028g0189 a0002c0011t0002g0011 a0002c0011t0002g0101 a0002c0011t0003g0195 a0002c0029t0002g0108 a0003c0014t0001g0160 a0003c0014t0001g0162 a0003c0032t0007g0161 a0004c0012t0013g0054 a0004c0012t0013g0132 a0005c0013t0003g0167 a0005c0013t0003g0207 a0006c0015t0007g0004 a0007c0016t0002g0017 a0008c0023t0007g0147 a0009c0022t0005g0210 a0010c0017t0004g0123	176	218	0.8073	27	c.-40 others(38): Show c.-4060_-4059insAGCGCACGACCCCCCCACGCCCCGCAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		3933		chr5	TogoVar
SLC9A5_chr16_67243979_67277191	67273281	T T	TTATTATA others(20): Show TTATTATAATATAATATATATTATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0026 a0001c0002t0006g0026	1	204	0.0049	27	c.20 others(38): Show c.2071_*2072insTATTATAATATAATATATATTATATAA	SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding		1091		chr16	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(20): Show GACACACACGACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18960.hp2 NA18950.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0144 a0001c0001t0004g0142 a0001c0001t0004g0144	2	360	0.0056	27	c.149 others(44): Show c.1491+216_1491+217insGACACACACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143448992	A A	ATAATATA others(20): Show ATAATATAATTATATTAGATATAATTAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0093 a0001c0012t0007g0093	1	108	0.0093	27	c.146 others(48): Show c.1469+18044_1469+18045insATAATTATATCTAATATAATTATA TTA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143448992	A A	ATTATATA others(20): Show ATTATATAATTATATTAGATATAATTAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02257.hp1 HG02622.hp2 others(5): Show HG01358.hp1 HG02257.hp1 HG02622.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0017	a0001c0001t0001g0083 a0001c0002t0002g0063 a0001c0002t0003g0046 others(5): Show a0001c0001t0001g0083 a0001c0002t0002g0063 a0001c0002t0003g0046 a0001c0002t0007g0094 a0001c0002t0008g0039 a0001c0002t0014g0014 a0001c0002t0014g0077 a0001c0002t0017g0010	8	108	0.0741	27	c.146 others(48): Show c.1469+18044_1469+18045insATAATTATATCTAATATAATTATA TAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143448992	A A	ATTATATA others(20): Show ATTATATAATTATATTTGATATAATTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	108	0.0093	27	c.146 others(48): Show c.1469+18044_1469+18045insATAATTATATCAAATATAATTATA TAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143449021	A A	ATTATATA others(20): Show ATTATATAATTATATTAGATATAATTAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	108	0.0093	27	c.146 others(48): Show c.1469+18015_1469+18016insATAATTATATCTAATATAATTATA TAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLC9C1_chr3_112135898_112299216	112150838	A A	AAATACAC others(20): Show AAATACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0019	1	372	0.0027	27	c.352 others(46): Show c.3524+1018_3524+1019insATATATATATATATATATATGTGTAT T	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	28/28			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01952.hp2 NA18939.hp2 others(1): Show HG01361.hp1 HG01952.hp2 NA18939.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0052 a0001c0002t0001 a0001c0001t0016 a0001c0001t0052 a0001c0002t0001	a0001c0001t0016g0122 a0001c0001t0052g0189 a0001c0002t0001g0117 others(1): Show a0001c0001t0016g0122 a0001c0001t0052g0189 a0001c0002t0001g0117 a0001c0002t0001g0118	4	190	0.0211	27	c.646 others(46): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	91974265	G G	GTTGTTGT others(20): Show GTTGTTGTTGTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18946.hp1 HG02155.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0116 a0001c0001t0021g0139 a0001c0001t0002g0116 a0001c0001t0021g0139	2	190	0.0105	27	c.646 others(46): Show c.646+57809_646+57810insGTTGTTGTTATTATTATTATTATTAT T	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666115	C C	CCCCGCCC others(20): Show CCCCGCCCCCCCCCTTCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02080.hp1 HG02602.hp2 others(14): Show HG01106.hp1 HG02080.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18954.hp2 NA18960.hp1 NA18963.hp1 NA19000.hp1 NA19082.hp1	a0001 a0002 a0012 others(2): Show a0001 a0002 a0012 a0016 a0020	a0001c0001 a0002c0002 a0012c0028 others(2): Show a0001c0001 a0002c0002 a0012c0028 a0016c0037 a0020c0020	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 others(4): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0012c0028t0003 a0016c0037t0002 a0020c0020t0002	a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0059 others(14): Show a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0003g0052 a0001c0001t0003g0153 a0001c0001t0003g0185 a0001c0001t0003g0354 a0002c0002t0002g0125 a0002c0002t0002g0321 a0002c0002t0003g0116 a0002c0002t0003g0123 a0002c0002t0003g0124 a0012c0028t0003g0164 a0016c0037t0002g0104 a0020c0020t0002g0165	17	432	0.0394	27	c.127 others(44): Show c.1277-263_1277-262insCGCCCCCCCCCTTCCCCTTCCCCTTCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN14_chr17_35538985_35565819	35545772	G G	GGTATTGC others(20): Show GGTATTGCAGGCACCATCTCAAATTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0039 a0003c0003t0039	a0003c0003t0039g0088 a0003c0003t0039g0088	1	428	0.0023	27	c.24 others(38): Show c.2466_*2467insAGAAATTTGAGATGGTGCCTGCAATAC	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding	6/6	2466		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561741	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03927.hp2 HG02886.hp1 HG03927.hp2	a0002 a0007 a0002 a0007	a0002c0012 a0007c0008 a0002c0012 a0007c0008	a0002c0012t0011 a0007c0008t0008 a0002c0012t0011 a0007c0008t0008	a0002c0012t0011g0009 a0007c0008t0008g0050 a0002c0012t0011g0009 a0007c0008t0008g0050	2	428	0.0047	27	c.-10 others(38): Show c.-1099_-1098insCTTTCTTTCTTTCTTTCTTTCTTTCTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		923		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0009 a0002c0012t0011g0009	1	428	0.0023	27	c.-11 others(38): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	428	0.0023	27	c.-11 others(38): Show c.-1107_-1106insCTTTCTTTTTTTTTTTTTTTTTTTTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	428	0.0023	27	c.-11 others(38): Show c.-1107_-1106insCTTTCTTTCTTTTTTTTTTTTTTTTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLIT3_chr5_168656740_169306139	168746882	T T	TGTGTGGT others(20): Show TGTGTGGTGTGTGAGTGTGGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0011 a0001c0047t0011	a0001c0047t0011g0012 a0001c0047t0011g0012	1	132	0.0076	27	c.227 others(46): Show c.2270+1419_2270+1420insCCACACCACCACACTCACACACCACA C	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG02129.hp1 others(3): Show HG01934.hp1 HG01934.hp2 HG02129.hp1 HG02717.hp1 NA18989.hp2 NA19056.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0041 a0002c0008 others(3): Show a0001c0001 a0001c0041 a0002c0008 a0002c0060 a0002c0062 a0003c0055	a0001c0001t0001 a0001c0041t0001 a0002c0008t0002 others(3): Show a0001c0001t0001 a0001c0041t0001 a0002c0008t0002 a0002c0060t0001 a0002c0062t0030 a0003c0055t0010	a0001c0001t0001g0092 a0001c0041t0001g0053 a0002c0008t0002g0042 others(3): Show a0001c0001t0001g0092 a0001c0041t0001g0053 a0002c0008t0002g0042 a0002c0060t0001g0057 a0002c0062t0030g0032 a0003c0055t0010g0115	6	132	0.0455	27	c.414 others(46): Show c.414-84102_414-84101insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57869633	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	310	0.0032	27	c.123 others(46): Show c.1238-1993_1238-1967dupTATATATATATATATATAATATATAT A	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(20): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18966.hp2 NA18982.hp2 others(4): Show HG01106.hp1 NA18966.hp2 NA18982.hp2 NA19002.hp1 NA19070.hp2 NA19082.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 others(4): Show a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0310 a0001c0002t0002g0051 a0001c0002t0002g0056	7	310	0.0226	27	c.150 others(46): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT T	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(20): Show CTTTTTTTTCTTTTTTTTCTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0001 a0001c0009t0031g0001	1	310	0.0032	27	c.150 others(46): Show c.1502-1576_1502-1575insCTTTTTTTTCTTTTTCTTTTTTTTTT T	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19080.hp2 HG00280.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0263 a0001c0002t0001g0253 a0001c0002t0001g0263	2	310	0.0065	27	c.150 others(46): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02886.hp1 NA18906.hp2 HG02258.hp1 HG02886.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0006 a0001c0001t0001g0016	3	398	0.0075	27	c.-37 others(38): Show c.-3746_-3745insATCTATCTATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258296	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG02922.hp2 HG00099.hp1 HG00741.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	398	0.0075	27	c.-37 others(38): Show c.-3754_-3753insATCTATCTATCTATCTATCTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3733		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02723.hp1 HG02886.hp2 others(5): Show HG02698.hp1 HG02723.hp1 HG02886.hp2 HG03540.hp2 HG03688.hp2 NA18954.hp2 NA19012.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0289 a0001c0001t0002g0301 a0001c0001t0002g0320 others(5): Show a0001c0001t0002g0289 a0001c0001t0002g0301 a0001c0001t0002g0320 a0001c0001t0002g0327 a0001c0001t0002g0351 a0001c0001t0002g0356 a0001c0002t0001g0063 a0001c0002t0001g0079	8	386	0.0207	27	c.299 others(46): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02602.hp2 HG03834.hp1 others(2): Show HG00642.hp2 HG02602.hp2 HG03834.hp1 NA18988.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0065 a0001c0001t0083 others(2): Show a0001c0001t0017 a0001c0001t0065 a0001c0001t0083 a0001c0001t0086 a0001c0001t0088	a0001c0001t0017g0208 a0001c0001t0065g0197 a0001c0001t0083g0178 others(2): Show a0001c0001t0017g0208 a0001c0001t0065g0197 a0001c0001t0083g0178 a0001c0001t0086g0116 a0001c0001t0088g0232	5	310	0.0161	27	c.237 others(46): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0186 a0001c0001t0007g0186	1	310	0.0032	27	c.871 others(44): Show c.871+1579_871+1580insATATATATATATATATATATATATTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAP2_chr1_40368727_40428322	40426927	G G	GTGAGTGT others(20): Show GTGAGTGTAGCGCCGAAACAGTAGTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	400	0.0025	27	c.48 others(38): Show c.4826_*4827insTGAGTGTAGCGCCGAAACAGTAGTTGT	SMAP2	ENSG00000084070.12	transcript	ENST00000372718.8	protein_coding		3606		chr1	TogoVar
SMARCAL1_chr2_216407484_216488053	216452590	T T	TTCACCTC others(20): Show TTCACCTCCTGAACCAGTTTGAGAACAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	408	0.0025	27	c.207 others(46): Show c.2070+1527_2070+1553dupTCACCTCCTGAACCAGTTTGAGAACA G	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	219	0.0046	27	c.184 others(44): Show c.1840-480_1840-479insGTTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCD1_chr12_50080342_50105707	50086479	T T	TTGGTGGT others(20): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02723.hp1 others(1): Show HG02257.hp1 HG02559.hp2 HG02723.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0052	4	366	0.0109	27	c.366 others(42): Show c.366-120_366-119insGGTGGTGGTGGTGGTGGTGGTGGTGGT	SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMARCE1_chr17_40619962_40652818	40626865	A A	ACTCCAAC others(20): Show ACTCCAACTCAAAAAAAAAAAAAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0109 a0001c0001t0036g0109	1	402	0.0025	27	c.19 others(38): Show c.1919_*1920insGCTTTTTTTTTTTTTTTTGAGTTGGAG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1919		chr17	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	213	0.0047	27	c.242 others(44): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp2 HG02486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0103 a0001c0002t0008g0095 a0001c0001t0001g0103 a0001c0002t0008g0095	2	213	0.0094	27	c.125 others(44): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC2_chr9_104089309_104146419	104137560	A A	ATATGCAT others(20): Show ATATGCATGTTTATGTAAGTGTGTACAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0054 a0001c0003t0004g0054	1	278	0.0036	27	c.327 others(44): Show c.3270-437_3270-436insGTACATTATGCATGTTTATGTAAGTGT	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(20): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	412	0.0024	27	c.-15 others(46): Show c.-154+7488_-154+7489insGCTGCTGCTGCTGCTGCTGCTGCTGC T	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18849069	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0244 a0001c0002t0005g0244	1	300	0.0033	27	c.562 others(44): Show c.5623+121_5623+147dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02809.hp2 others(1): Show HG01243.hp2 HG01884.hp2 HG02809.hp2 HG03540.hp2	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0002 a0004c0004 a0015c0030 a0002c0002 a0004c0004 a0015c0030	a0002c0002t0001 a0004c0004t0008 a0015c0030t0001 a0002c0002t0001 a0004c0004t0008 a0015c0030t0001	a0002c0002t0001g0108 a0004c0004t0008g0015 a0004c0004t0008g0016 others(1): Show a0002c0002t0001g0108 a0004c0004t0008g0015 a0004c0004t0008g0016 a0015c0030t0001g0066	4	278	0.0144	27	c.335 others(48): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT TTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02109.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0065 a0001c0001t0028g0099 a0001c0001t0002g0065 a0001c0001t0028g0099	2	320	0.0063	27	c.-7+ others(42): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM10L2A_chrX_135416944_135433075	135430062	G G	GGAATCCA others(20): Show GGAATCCACAATGGCGGGGGATAAGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	301	0.0033	27	c.67 others(38): Show c.6792_*6793insGAATCCACAATGGCGGGGGATAAGCGA	SMIM10L2A	ENSG00000178947.9	transcript	ENST00000417443.3	protein_coding		1988		chrX	TogoVar
SMIM14_chr4_39541336_39643865	39576685	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	344	0.0029	27	c.76- others(42): Show c.76-4223_76-4222insTATATATATATATATATATATATATAT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar

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