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
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(30): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01928.hp1 NA18995.hp2 others(1): Show HG00544.hp2 HG01928.hp1 NA18995.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0017 a0001c0001t0001g0124 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0124 a0001c0001t0001g0269 a0001c0001t0015g0141	4	370	0.0108	37	c.-47 others(48): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTCT TTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0176 a0006c0008t0001g0176	1	312	0.0032	37	c.295 others(58): Show c.2954+16144_2954+16145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0019 a0004c0058t0019	a0004c0058t0019g0060 a0004c0058t0019g0060	1	434	0.0023	37	c.196 others(54): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCHIP1_chr3_159268244_159902359	159277622	T T	TTAAAAGA others(30): Show TTAAAAGAAAGAAAGAAAAGTAAAAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	100	0.0100	37	c.63+ others(52): Show c.63+3744_63+3745insGAAAGAAAGAAAAGTAAAAAAAGAAAAGAA AGTAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0088 a0002c0002t0088	a0002c0002t0088g0281 a0002c0002t0088g0281	1	372	0.0027	37	c.354 others(52): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0109 a0001c0004t0001g0109	1	288	0.0035	37	c.687 others(54): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107803219	G G	GGGAGCAC others(30): Show GGGAGCACCTCTGCCCTGCCGCCCCGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	250	0.0040	37	c.-60 others(56): Show c.-60+20906_-60+20907insTCACATCCCAGACGGGGCGGCAGGGC AGAGGTGCTCC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107803219	G G	GGGAGTGC others(30): Show GGGAGTGCCTCTGCCCTGCCGCCCCGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp2 others(25): Show HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0029 a0001c0003t0007 a0001c0003t0012 a0001c0003t0015	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 others(25): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0004g0146 a0001c0001t0006g0138 a0001c0001t0013g0156 a0001c0001t0014g0128 a0001c0001t0019g0075 a0001c0001t0019g0137 a0001c0002t0001g0164 a0001c0002t0008g0145 a0001c0002t0010g0129 a0001c0002t0010g0134 a0001c0002t0010g0148 a0001c0002t0010g0163 a0001c0002t0029g0151 a0001c0003t0007g0127 a0001c0003t0012g0130 a0001c0003t0012g0131 a0001c0003t0012g0132 a0001c0003t0012g0133 a0001c0003t0012g0135 a0001c0003t0012g0136 a0001c0003t0015g0160 a0001c0003t0015g0161 a0001c0003t0015g0162	28	250	0.1120	37	c.-60 others(56): Show c.-60+20906_-60+20907insTCACATCCCAGACGGGGCGGCAGGGC AGAGGCACTCC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107803226	C C	CCTCTGCC others(30): Show CCTCTGCCCTGCCGCCCCGTCTGGGATGTGAGGAGCAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02965.hp1 others(1): Show HG02055.hp1 HG02922.hp1 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0002t0010	a0001c0001t0001g0010 a0001c0001t0013g0011 a0001c0001t0014g0009 others(1): Show a0001c0001t0001g0010 a0001c0001t0013g0011 a0001c0001t0014g0009 a0001c0002t0010g0008	4	250	0.0160	37	c.-60 others(56): Show c.-60+20899_-60+20900insATGCTCCTCACATCCCAGACGGGGCG GCAGGGCAGAG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107803226	C C	CCTCTGCC others(30): Show CCTCTGCCCTGCCGCCCCGTCTGGGATGTGAGGAGCGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(211): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0004 a0002c0006 a0002c0007 a0002c0014 a0002c0016 a0003c0015 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0026 a0001c0003t0007 a0001c0003t0012 a0001c0003t0015 a0001c0003t0016 a0001c0005t0005 a0001c0005t0011 a0001c0005t0017 a0001c0005t0018 a0001c0005t0030 a0001c0008t0001 a0001c0008t0008 a0001c0009t0001 a0001c0009t0006 a0001c0010t0007 a0001c0011t0001 a0001c0012t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0009 a0002c0004t0014 a0002c0004t0020 a0002c0004t0028 a0002c0006t0005 a0002c0006t0009 a0002c0006t0022 a0002c0007t0007 a0002c0014t0011 a0002c0016t0011 a0003c0015t0009 a0004c0013t0006	a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0076 others(211): Show a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0004g0054 a0001c0001t0004g0110 a0001c0001t0004g0172 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0004g0246 a0001c0001t0005g0193 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0006g0060 a0001c0001t0006g0071 a0001c0001t0006g0077 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0122 a0001c0001t0006g0157 a0001c0001t0008g0169 a0001c0001t0008g0176 a0001c0001t0008g0183 a0001c0001t0008g0190 a0001c0001t0008g0203 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0226 a0001c0001t0008g0229 a0001c0001t0008g0239 a0001c0001t0008g0244 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0013g0050 a0001c0001t0013g0068 a0001c0001t0013g0118 a0001c0001t0013g0120 a0001c0001t0013g0124 a0001c0001t0014g0042 a0001c0001t0014g0125 a0001c0001t0021g0013 a0001c0001t0023g0112 a0001c0001t0024g0088 a0001c0001t0025g0119 a0001c0001t0027g0143 a0001c0002t0001g0031 a0001c0002t0001g0087 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0002g0247 a0001c0002t0005g0165 a0001c0002t0005g0174 a0001c0002t0005g0180 a0001c0002t0005g0182 a0001c0002t0005g0192 a0001c0002t0005g0197 a0001c0002t0005g0200 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0230 a0001c0002t0005g0238 a0001c0002t0005g0245 a0001c0002t0005g0248 a0001c0002t0008g0002 a0001c0002t0009g0067 a0001c0002t0009g0078 a0001c0002t0009g0089 a0001c0002t0009g0104 a0001c0002t0010g0049 a0001c0002t0026g0073 a0001c0003t0007g0045 a0001c0003t0007g0047 a0001c0003t0007g0048 a0001c0003t0007g0051 a0001c0003t0007g0074 a0001c0003t0007g0100 a0001c0003t0007g0121 a0001c0003t0007g0142 a0001c0003t0012g0107 a0001c0003t0012g0144 a0001c0003t0015g0123 a0001c0003t0016g0007 a0001c0003t0016g0052 a0001c0003t0016g0220 a0001c0005t0005g0181 a0001c0005t0011g0061 a0001c0005t0011g0081 a0001c0005t0011g0098 a0001c0005t0011g0099 a0001c0005t0011g0102 a0001c0005t0011g0171 a0001c0005t0017g0195 a0001c0005t0017g0224 a0001c0005t0018g0205 a0001c0005t0018g0212 a0001c0005t0030g0079 a0001c0008t0001g0069 a0001c0008t0001g0250 a0001c0008t0008g0111 a0001c0009t0001g0139 a0001c0009t0006g0063 a0001c0009t0006g0066 a0001c0010t0007g0044 a0001c0010t0007g0140 a0001c0010t0007g0141 a0001c0011t0001g0072 a0001c0012t0002g0227 a0001c0012t0002g0228 a0002c0004t0001g0020 a0002c0004t0002g0237 a0002c0004t0003g0034 a0002c0004t0003g0090 a0002c0004t0004g0184 a0002c0004t0004g0225 a0002c0004t0004g0236 a0002c0004t0005g0241 a0002c0004t0006g0028 a0002c0004t0009g0095 a0002c0004t0009g0096 a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0004t0020g0243 a0002c0004t0028g0086 a0002c0006t0005g0179 a0002c0006t0005g0249 a0002c0006t0009g0016 a0002c0006t0009g0023 a0002c0006t0009g0030 a0002c0006t0009g0032 a0002c0006t0009g0041 a0002c0006t0009g0240 a0002c0006t0022g0015 a0002c0007t0007g0017 a0002c0007t0007g0018 a0002c0007t0007g0033 a0002c0007t0007g0035 a0002c0007t0007g0040 a0002c0014t0011g0027 a0002c0016t0011g0024 a0003c0015t0009g0001 a0004c0013t0006g0037	214	250	0.8560	37	c.-60 others(56): Show c.-60+20899_-60+20900insACGCTCCTCACATCCCAGACGGGGCG GCAGGGCAGAG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN7A_chr2_166398573_166499249	166414186	T T	TAAATATA others(30): Show TAAATATATAATATATTATATATATGTAAATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0064 a0001c0010t0009g0064	1	394	0.0025	37	c.341 others(56): Show c.3415-1066_3415-1065insTATATATATTTACATATATATAATAT ATTATATATTT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCGTGTCT others(30): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCATT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	290	0.0035	37	c.166 others(54): Show c.1663-342_1663-341insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCATTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119516242	G G	GCACAAAC others(30): Show GCACAAACATAGAAAAAACACATACACAACAAAAAACA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	290	0.0035	37	c.72+ others(52): Show c.72+7912_72+7913insTGTTTTTTGTTGTGTATGTGTTTTTTCTAT GTTTGTG	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43199087	G G	GTTTGTCT others(30): Show GTTTGTCTGTCTGCTGTCTGGGGCAGTTTGTCTGTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG03540.hp2 HG02486.hp2 HG02886.hp2 HG03540.hp2	a0001 a0009 a0001 a0009	a0001c0024 a0009c0056 a0001c0024 a0009c0056	a0001c0024t0083 a0001c0024t0094 a0009c0056t0084 a0001c0024t0083 a0001c0024t0094 a0009c0056t0084	a0001c0024t0083g0194 a0001c0024t0094g0271 a0009c0056t0084g0262 a0001c0024t0083g0194 a0001c0024t0094g0271 a0009c0056t0084g0262	3	280	0.0107	37	c.49 others(48): Show c.4909_*4910insAAGACAGACAAACTGCCCCAGACAGCAGACAGAC AAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22	4909		chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0022 a0020c0026t0022	a0020c0026t0022g0211 a0020c0026t0022g0211	1	358	0.0028	37	c.120 others(54): Show c.1208-967_1208-966insAAAAATATATATATATATATATATATAT ATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35217234	G G	GGGGGGGG others(30): Show GGGGGGGGGGGGGGGGGGGGGGGTGCGGGGGGGGCGGC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	290	0.0035	37	c.85+ others(52): Show c.85+2733_85+2734insGGGGGGGGGGGGGGGGGGGGTGCGGGGGGG GCGGCGG	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01257.hp1 HG02015.hp1 others(3): Show HG01069.hp1 HG01257.hp1 HG02015.hp1 HG02683.hp1 HG02809.hp1 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0016 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0001 a0001c0003t0002 a0002c0005t0001	a0001c0001t0001g0238 a0001c0001t0016g0158 a0001c0003t0001g0036 others(3): Show a0001c0001t0001g0238 a0001c0001t0016g0158 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0002g0092 a0002c0005t0001g0009	6	334	0.0180	37	c.61- others(54): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28659256	T T	TGGGCAGA others(30): Show TGGGCAGAGGCGCTCCCCACTTCCCAGACGGGGCAGCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	398	0.0025	37	c.151 others(54): Show c.151+2433_151+2469dupGGCTGCCCCGTCTGGGAAGTGGGGAGCG CCTCTGCCC	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding	1/2			chr17	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG00735.hp1 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0013 a0001c0001t0001g0018	2	398	0.0050	37	c.-19 others(48): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDF4_chr1_1211931_1237001	1212605	C C	CCCAGCCC others(30): Show CCCAGCCCCTCCCAGCCCCTGGCCCCTCTGCCCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19009.hp2 NA19003.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0017 a0001c0001t0002g0018	2	400	0.0050	37	c.49 others(48): Show c.4906_*4907insTGAGGGGGCAGAGGGGCCAGGGGCTGGGAGGGGC TGG	SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding		4325		chr1	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	402	0.0025	37	c.26 others(48): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	330	0.0030	37	c.-48 others(48): Show c.-4854_-4853insTATATATATATATATATATTTTTTTTTTTTTTTT TTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0068 a0001c0067t0068	a0001c0067t0068g0001 a0001c0067t0068g0001	1	116	0.0086	37	c.848 others(56): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC23IP_chr10_119887730_119949657	119905115	T T	TGGGAATG others(30): Show TGGGAATGAGACCCTTCCTCAGAAAAAAAAAAAGTATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0017 a0006c0010t0017	a0006c0010t0017g0258 a0006c0010t0017g0258	1	400	0.0025	37	c.110 others(54): Show c.1101+839_1101+875dupGGGAATGAGACCCTTCCTCAGAAAAAAA AAAAGTATA	SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SECISBP2_chr9_89313500_89364663	89340990	A A	AGGCGATA others(30): Show AGGCGATAGTACTAACCAAGTAGCCTCACACACAGACT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	380	0.0026	37	c.130 others(54): Show c.1303-356_1303-320dupGGCGATAGTACTAACCAAGTAGCCTCAC ACACAGACT	SECISBP2	ENSG00000187742.15	transcript	ENST00000375807.8	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(30): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	324	0.0031	37	c.115 others(54): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3E_chr7_83358238_83654139	83454272	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0050 a0001c0001t0052g0050	1	226	0.0044	37	c.456 others(56): Show c.456+12209_456+12210insATATATATATATATATATATATATAT ATATATATATT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(30): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0069 a0001c0004t0069	a0001c0004t0069g0103 a0001c0004t0069g0103	1	134	0.0075	37	c.125 others(56): Show c.125-15287_125-15286insTCCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(30): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00738.hp1 others(1): Show HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01515.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0012 a0001c0001 a0001c0002 a0005c0012	a0001c0001t0014 a0001c0001t0017 a0001c0002t0022 others(1): Show a0001c0001t0014 a0001c0001t0017 a0001c0002t0022 a0005c0012t0029	a0001c0001t0014g0077 a0001c0001t0017g0091 a0001c0002t0022g0073 others(1): Show a0001c0001t0014g0077 a0001c0001t0017g0091 a0001c0002t0022g0073 a0005c0012t0029g0055	4	134	0.0299	37	c.125 others(56): Show c.125-15287_125-15286insTCCTTTCCCTTTCCTTTCCTTTCCTT TCCTTTCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116579047	C C	CCCCCCCC others(30): Show CCCCCCCCCTCCCTCCCCCCCCTCCCTCCCCCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0082 a0001c0001t0012g0082	1	304	0.0033	37	c.-49 others(48): Show c.-4902_-4901insTGGGGGGGGGGAGGGAGGGGGGGGAGGGAGGGGG GGG	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding		4225		chr5	TogoVar
SEMA6B_chr19_4537593_4564684	4551933	A A	AAAAAGTC others(30): Show AAAAAGTCCAAGTTTCTGCCTGCAGCCCACAAAGCCTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	440	0.0023	37	c.989 others(52): Show c.989+452_989+488dupAAGGCTTTGTGGGCTGCAGGCAGAAACTTG GACTTTT	SEMA6B	ENSG00000167680.17	transcript	ENST00000586582.6	protein_coding	10/16			chr19	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0073 a0001c0002t0003g0073	1	306	0.0033	37	c.188 others(56): Show c.1885-8827_1885-8826insAAAAAAATATATATATATATATATAT ATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEPTIN2_chr2_241310925_241359027	241355498	A A	AAGCCTAG others(30): Show AAGCCTAGGCCTCGCCCAGCACCTATCCGCGCCCAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0143	1	408	0.0025	37	c.35 others(48): Show c.3561_*3562insAGCCTAGGCCTCGCCCAGCACCTATCCGCGCCCA GCG	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1472		chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241355590	A A	AGACCTAG others(30): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(91): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00733.hp2 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027	a0001c0001t0002g0017 a0001c0001t0002g0054 a0001c0001t0002g0055 others(68): Show a0001c0001t0002g0017 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0069 a0001c0001t0002g0266 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0203 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0279 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0196 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0245 a0001c0001t0014g0172 a0001c0001t0014g0200 a0001c0001t0014g0242 a0001c0001t0014g0248 a0001c0001t0020g0246 a0001c0001t0020g0247 a0001c0001t0021g0007 a0001c0001t0021g0225 a0001c0001t0022g0243 a0001c0001t0027g0216	94	408	0.2304	37	c.36 others(48): Show c.3653_*3654insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCC CAG	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1564		chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241355611	G G	GCCGACTC others(30): Show GCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00642.hp1 others(37): Show HG00099.hp1 HG00140.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp2 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024	a0001c0001t0002g0044 a0001c0001t0002g0250 a0001c0001t0002g0251 others(31): Show a0001c0001t0002g0044 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0006g0037 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0298 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0315 a0001c0001t0016g0049 a0001c0001t0016g0301 a0001c0001t0017g0077 a0001c0001t0017g0078 a0001c0001t0017g0319 a0001c0001t0018g0300 a0001c0001t0018g0302 a0001c0001t0024g0193	40	408	0.0980	37	c.36 others(48): Show c.3674_*3675insCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGC GAA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1585		chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241355685	G G	GCCGACTC others(30): Show GCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp1 others(3): Show HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01169.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0012g0013 others(1): Show a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0012g0013 a0001c0001t0012g0029	6	408	0.0147	37	c.37 others(48): Show c.3748_*3749insCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGC GAA	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1659		chr2	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0173 a0001c0001t0005g0173	1	368	0.0027	37	c.92 others(48): Show c.9279_*9280insATATATATATATATATATATATATATATATTTTT TTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERGEF_chr11_17783048_18018047	17783641	C C	CCCCCCCC others(30): Show CCCCCCCCCCCCACACACAAAACCCCCCCCCAAAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0112 a0010c0013t0001g0112	1	226	0.0044	37	c.44 others(48): Show c.4443_*4444insTTGTTTTGGGGGGGGGTTTTGTGTGTGGGGGGGG GGG	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding		4406		chr11	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02071.hp1 HG02080.hp2 others(1): Show HG01109.hp2 HG02071.hp1 HG02080.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0093 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0093 a0001c0001t0004g0106	4	366	0.0109	37	c.37 others(48): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	366	0.0027	37	c.760 others(50): Show c.760-23_760-22insATATATATATATATATATATATATATATATAT TTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTCTT others(30): Show TTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	402	0.0025	37	c.304 others(52): Show c.304-534_304-533insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101125060	C C	CCGATGCC others(30): Show CCGATGCCAATAGACTGGACGGCCCTGACAGTCTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	436	0.0023	37	c.-21 others(48): Show c.-2186_-2185insCGATGCCAATAGACTGGACGGCCCTGACAGTCTG TGG	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		2043		chr7	TogoVar
SESN3_chr11_95160513_95236202	95167475	C C	CCATATAT others(30): Show CCATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG03195.hp2 HG02895.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0048 a0001c0002t0046 a0001c0002t0048	a0001c0002t0046g0073 a0001c0002t0048g0072 a0001c0002t0046g0073 a0001c0002t0048g0072	2	392	0.0051	37	c.57 others(48): Show c.5779_*5780insATATATATATATATATATATATATATATATATAT ATG	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	10/10	5779		chr11	TogoVar
SETD2_chr3_47011436_47169113	47060899	T T	TAATTCAA others(30): Show TAATTCAATGGAATGAACAACACATATAAGATACTTCA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0146 a0002c0001t0001g0146	1	308	0.0033	37	c.629 others(56): Show c.6293+1263_6293+1264insTGAAGTATCTTATATGTGTTGTTCAT TCCATTGAATT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	14/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	290	0.0035	37	c.676 others(54): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(30): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	240	0.0042	37	c.240 others(54): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAGAAAGAAAAAAG AAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02145.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0006g0001 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0006g0001	3	328	0.0092	37	c.124 others(54): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFT2D1_chr6_166314728_166347545	166347008	G G	GCCCCCCC others(30): Show GCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	388	0.0026	37	c.-45 others(48): Show c.-4528_-4527insGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGG GGG	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		4464		chr6	TogoVar
SGCD_chr5_156322164_156772788	156355426	T T	TTCTTTTC others(30): Show TTCTTTTCAATATTCTTTTCAATTTCTTCTTTTCAATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp2 HG02257.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0050 a0001c0001t0001g0052	2	150	0.0133	37	c.192 others(56): Show c.192+10749_192+10750insTCTTTTCAATATTCTTTTCAATTTCT TCTTTTCAATA	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCE_chr7_94579980_94661133	94659438	G G	GAAAAGCT others(30): Show GAAAAGCTAGTTATTCCAAATAATTAGCTTTTTTCATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02135.hp1 HG02738.hp1 others(17): Show HG00558.hp1 HG02135.hp1 HG02738.hp1 HG02886.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 NA18939.hp2 NA18967.hp2 NA18975.hp1 NA18983.hp1 NA18989.hp2 NA19007.hp1 NA19030.hp1 NA19078.hp1 NA19084.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0035 others(17): Show a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0186 a0001c0001t0001g0216 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0349	20	390	0.0513	37	c.-33 others(48): Show c.-3341_-3340insTATGAAAAAAGCTAATTATTTGGAATAACTAGCT TTT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding		3306		chr7	TogoVar

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