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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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
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01167.hp2 others(10): Show HG00642.hp1 HG00642.hp2 HG01167.hp2 HG01243.hp2 HG01261.hp1 HG02027.hp2 HG02055.hp1 HG02300.hp1 HG02630.hp2 HG02965.hp1 HG04115.hp1 NA18747.hp2 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0018 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0018 a0001c0001t0031 a0001c0001t0043 a0001c0001t0077 a0001c0001t0104 a0001c0001t0117 a0001c0001t0119 a0001c0001t0193 a0002c0002t0220 a0002c0002t0221 a0002c0002t0257	a0001c0001t0001g0028 a0001c0001t0009g0009 a0001c0001t0018g0027 others(10): Show a0001c0001t0001g0028 a0001c0001t0009g0009 a0001c0001t0018g0027 a0001c0001t0031g0018 a0001c0001t0043g0019 a0001c0001t0077g0021 a0001c0001t0104g0042 a0001c0001t0117g0020 a0001c0001t0119g0039 a0001c0001t0193g0040 a0002c0002t0220g0325 a0002c0002t0221g0326 a0002c0002t0257g0324	13	372	0.0350	31	c.354 others(46): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	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(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02258.hp2 HG03704.hp1 others(2): Show HG00423.hp2 HG02258.hp2 HG03704.hp1 NA19062.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0192 a0001c0002t0001g0107 a0001c0004t0001g0111 others(2): Show a0001c0001t0001g0192 a0001c0002t0001g0107 a0001c0004t0001g0111 a0001c0004t0001g0117 a0001c0004t0001g0118	5	288	0.0174	31	c.687 others(48): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCN11A_chr3_38840764_39056944	38877021	G G	GTATATAT others(24): Show GTATATATATGGTATATATATGGTGTATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	314	0.0032	31	c.339 others(50): Show c.3393+2898_3393+2928dupGTATATACACCATATATATACCATAT ATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877114	C C	CTATATAT others(24): Show CTATATATATGGTGTATATACTATATATATGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG00639.hp2 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0205 a0001c0002t0004g0195 a0001c0002t0002g0205 a0001c0002t0004g0195	2	314	0.0064	31	c.339 others(50): Show c.3393+2805_3393+2835dupCCATATATATAGTATATACACCATAT ATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTTCTT others(24): Show CTTTTCTTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	358	0.0028	31	c.-51 others(48): Show c.-51-4245_-51-4244insTTTTCTTTTCTTTCTTTCTTTCTTTCTT CCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51721122	T T	TTATATAT others(24): Show TTATATATATATATAATATTTATTTATTGTTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0199 a0001c0005t0013g0200 a0001c0005t0013g0199 a0001c0005t0013g0200	2	202	0.0099	31	c.163 others(48): Show c.1636-414_1636-413insTATAATATTTATTTATTGTTATATATAT ATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23305534	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	306	0.0033	31	c.-9+ others(46): Show c.-9+3097_-9+3098insATATATATATATATATATATATATATATAT A	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343486	G G	GGAAGGAA others(24): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG01891.hp2 others(6): Show HG01167.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02886.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 a0001c0001 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0003t0001 a0002c0007t0001 a0001c0001t0001 a0001c0003t0001 a0002c0007t0001	a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0286 others(6): Show a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0298 a0001c0003t0001g0287 a0001c0003t0001g0292 a0001c0003t0001g0293 a0002c0007t0001g0283 a0002c0007t0001g0294	9	306	0.0294	31	c.-8- others(46): Show c.-8-5083_-8-5082insGGAAGGAAGAAGGAAGGAAGGAAGGAAGGA A	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAAAGAA others(24): Show AGAAAGAAAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	306	0.0033	31	c.777 others(48): Show c.777-2236_777-2235insGAAAGAAAGAGAGAGAAAGAAAGAAAGA AAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	320	0.0031	31	c.-22 others(42): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCO2_chr22_50518568_50530598	50521319	C C	CTGGGAGG others(24): Show CTGGGAGGGTGGCTGTGTACCCCCTACTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG02165.hp2 others(18): Show HG01243.hp1 HG01256.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03669.hp2 HG04184.hp1 HG06807.hp1 NA19005.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0002 a0001c0003t0005	a0001c0001t0002g0008 a0001c0003t0002g0006 a0001c0003t0002g0027 others(1): Show a0001c0001t0002g0008 a0001c0003t0002g0006 a0001c0003t0002g0027 a0001c0003t0005g0013	21	410	0.0512	31	c.22 others(42): Show c.2261_*2291dupAAGGAGTAGGGGGTACACAGCCACCCTCCCA	SCO2	ENSG00000284194.3	transcript	ENST00000395693.8	protein_coding		2248		chr22	TogoVar
SCO2_chr22_50518568_50530598	50521339	C C	CCCCTACT others(24): Show CCCCTACTCCTTTGGGAGGGTGGCTGTGTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(227): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0005 a0006c0009 a0001c0001 a0003c0005 a0006c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0003c0005t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0004g0018 a0001c0001t0006g0019 a0003c0005t0001g0014 a0006c0009t0001g0021	230	410	0.5610	31	c.22 others(42): Show c.2271_*2272insAGTACACAGCCACCCTCCCAAAGGAGTAGGG	SCO2	ENSG00000284194.3	transcript	ENST00000395693.8	protein_coding		2228		chr22	TogoVar
SCP2_chr1_52922276_53056698	53037964	C C	CACACACA others(24): Show CACACACACACAGATCCAGATCCTGTCTCTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01069.hp2 others(28): Show HG00438.hp1 HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp2 HG01358.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02148.hp1 HG02165.hp2 HG02698.hp2 HG03139.hp1 HG03688.hp2 HG03831.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18955.hp1 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18990.hp1 NA19001.hp2 NA19002.hp2 NA19054.hp1 NA19055.hp1 NA19070.hp2 NA19081.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 a0001c0007t0003 a0001c0008t0003	a0001c0001t0001g0251 a0001c0001t0003g0078 a0001c0001t0003g0090 others(28): Show a0001c0001t0001g0251 a0001c0001t0003g0078 a0001c0001t0003g0090 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0262 a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0007t0003g0248 a0001c0008t0003g0080	31	280	0.1107	31	c.133 others(48): Show c.1339-942_1339-941insGATCCAGATCCTGTCTCTATACACACAC ACA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119518361	G G	GAAATTGA others(24): Show GAAATTGAAAGACACGTGGCCATGAGTGTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG02818.hp2 others(8): Show HG01243.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03130.hp1 HG03516.hp2 NA19030.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0009 a0001c0004t0001 a0003c0006t0005	a0001c0001t0001g0269 a0001c0001t0002g0114 a0001c0001t0002g0170 others(8): Show a0001c0001t0001g0269 a0001c0001t0002g0114 a0001c0001t0002g0170 a0001c0001t0002g0237 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0004g0090 a0001c0002t0009g0276 a0001c0004t0001g0155 a0003c0006t0005g0152 a0003c0006t0005g0267	11	290	0.0379	31	c.72+ others(46): Show c.72+5793_72+5794insGAGACACTCATGGCCACGTGTCTTTCAATT T	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCT_chr11_621309_632181	627171	G G	GCTGCGGC others(24): Show GCTGCGGCCACGGCCCCGGGCCCCCGCAAGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	411	0.0024	31	c.-29 others(38): Show c.-29_-28insGCCTTGCGGGGGCCCGGGGCCGTGGCCGCAG	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding	1/4	29		chr11	TogoVar
SCT_chr11_621309_632181	627958	T T	TGTTCACA others(24): Show TGTTCACAGACGCTCCCGTCCTCCCAAAATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	31	c.-81 others(40): Show c.-816_-815insGGATTTTGGGAGGACGGGAGCGTCTGTGAAC	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		778		chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0034 a0015c0034	a0015c0034t0008 a0015c0034t0008	a0015c0034t0008g0353 a0015c0034t0008g0353	1	358	0.0028	31	c.120 others(48): Show c.1208-967_1208-966insAAAAAAAAATATATATATATATATATAT ATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCX_chr8_144261453_144273481	144262794	G G	GGTACACC others(24): Show GGTACACCGCCCCCCCCCACCCCTCACCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	31	c.-38 others(42): Show c.-3820_-3819insGTACACCGCCCCCCCCCACCCCTCACCTGCA	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3658		chr8	TogoVar
SCX_chr8_144261453_144273481	144262805	C C	CCCCCCCC others(24): Show CCCCCCCCACCCCTCACCTGCAGGGTACACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03195.hp1 NA21309.hp1 HG01884.hp2 HG03195.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	3	440	0.0068	31	c.-38 others(42): Show c.-3809_-3808insCCCCCCCACCCCTCACCTGCAGGGTACACCG	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3647		chr8	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0306 a0001c0001t0088g0306	1	418	0.0024	31	c.26 others(42): Show c.2667_*2668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDC2_chr8_96488813_96616790	96508900	C C	CAGCCTCA others(24): Show CAGCCTCAAATCATGAAGTATCTAATGGATGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18984.hp1 HG02129.hp2 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0001c0001t0003 a0003c0004t0003	a0001c0001t0003g0185 a0003c0004t0003g0184 a0001c0001t0003g0185 a0003c0004t0003g0184	2	334	0.0060	31	c.60+ others(48): Show c.60+14570_60+14600dupAGCCTCAAATCATGAAGTATCTAATGGA TGG	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	334	0.0030	31	c.61- others(48): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTGTT GTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCBP_chr8_58548261_58587858	58569239	T T	TTGCCATG others(24): Show TTGCCATGTTGGCCATGACAAACATGACAACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(87): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01167.hp2 HG01168.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp2 HG02300.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0004t0002 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0018 others(35): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0101 a0001c0001t0011g0059 a0001c0001t0012g0102 a0001c0004t0002g0033 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0060 a0002c0002t0002g0062	90	388	0.2320	31	c.52- others(46): Show c.52-1636_52-1606dupCCATGACAAACATGACAACATGCCATGTTG G	SDCBP	ENSG00000137575.12	transcript	ENST00000260130.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA19000.hp1 HG03486.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0122 a0001c0001t0002g0096 a0001c0001t0001g0122 a0001c0001t0002g0096	2	398	0.0050	31	c.-19 others(42): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97151847	T T	TAGGCAGA others(24): Show TAGGCAGATTAGGGGTCCTCAGAGAAAACTTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	402	0.0025	31	c.175 others(50): Show c.175-29162_175-29132dupGCAGATTAGGGGTCCTCAGAGAAAAC TTCAG	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02970.hp1 others(1): Show HG02258.hp2 HG02559.hp1 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0002t0001g0255 others(1): Show a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0259	4	402	0.0100	31	c.26 others(42): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHA_chr5_213320_262082	260107	C C	CCCGTCAG others(24): Show CCCGTCAGAGCATTACCGTGTGAGCTCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	266	0.0038	31	c.36 others(42): Show c.3687_*3688insCCGTCAGAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3026		chr5	TogoVar
SDHA_chr5_213320_262082	260171	C C	CCCATCAG others(24): Show CCCATCAGAGCATTACCGTGTGAGCTCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02129.hp2 HG02683.hp2 others(2): Show HG01192.hp2 HG02129.hp2 HG02683.hp2 NA18981.hp1 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0113 a0001c0002t0001g0169 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0113 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0181	5	266	0.0188	31	c.37 others(42): Show c.3751_*3752insCCATCAGAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3090		chr5	TogoVar
SDHA_chr5_213320_262082	261290	C C	CCCGTCAC others(24): Show CCCGTCACAGCATTACCGTGTGAGCTCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	266	0.0038	31	c.48 others(42): Show c.4870_*4871insCCGTCACAGCATTACCGTGTGAGCTCCGCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4209		chr5	TogoVar
SDHA_chr5_213320_262082	261816	A A	ACCGTGTG others(24): Show ACCGTGTGGAGCTCCGCCCCCCGTCAGAGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	266	0.0038	31	c.53 others(42): Show c.5396_*5397insCCGTGTGGAGCTCCGCCCCCCGTCAGAGCAT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4735		chr5	TogoVar
SDHA_chr5_213320_262082	261831	C C	CCCCCCGA others(24): Show CCCCCCGACAGAGCATTACCGTGTGAGCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18978.hp1 NA19091.hp1 NA18977.hp2 NA18978.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0003 a0001c0002t0001g0116 a0001c0002t0001g0120	3	266	0.0113	31	c.54 others(42): Show c.5411_*5412insCCCCCGACAGAGCATTACCGTGTGAGCTCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4750		chr5	TogoVar
SDHA_chr5_213320_262082	261831	C C	CCCCCCGT others(24): Show CCCCCCGTCAGAGCATTACCGTGTGAGCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	266	0.0038	31	c.54 others(42): Show c.5411_*5412insCCCCCGTCAGAGCATTACCGTGTGAGCTCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4750		chr5	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	330	0.0030	31	c.-48 others(42): Show c.-4854_-4853insTATATATATATATATTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA19058.hp1 HG04199.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0157 a0001c0001t0001g0085 a0001c0001t0001g0157	2	330	0.0061	31	c.180 others(46): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0023 a0002c0066t0023	a0002c0066t0023g0089 a0002c0066t0023g0089	1	116	0.0086	31	c.848 others(50): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074916	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0029 a0001c0048t0001g0029	1	116	0.0086	31	c.301 others(50): Show c.3011-2081_3011-2080insATATATATATATATTTTTTTTTTTTT TTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217177	C C	CGGAGCAC others(24): Show CGGAGCACCACACCACCCGGAGCACCAGGCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01516.hp2 NA19043.hp2 HG01109.hp1 HG01516.hp2 NA19043.hp2	a0003 a0006 a0028 a0003 a0006 a0028	a0003c0001 a0006c0006 a0028c0052 a0003c0001 a0006c0006 a0028c0052	a0003c0001t0059 a0006c0006t0012 a0028c0052t0032 a0003c0001t0059 a0006c0006t0012 a0028c0052t0032	a0003c0001t0059g0024 a0006c0006t0012g0115 a0028c0052t0032g0107 a0003c0001t0059g0024 a0006c0006t0012g0115 a0028c0052t0032g0107	3	116	0.0259	31	c.554 others(50): Show c.5540-2932_5540-2931insGGAGCACCACACCACCCGGAGCACCA GGCCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44			chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	204	0.0049	31	c.559 others(50): Show c.5594-2538_5594-2537insATATATATATATATATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp1 HG02486.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0015 a0001c0008 a0001c0015	a0001c0008t0004 a0001c0015t0030 a0001c0008t0004 a0001c0015t0030	a0001c0008t0004g0051 a0001c0015t0030g0129 a0001c0008t0004g0051 a0001c0015t0030g0129	2	204	0.0098	31	c.559 others(50): Show c.5594-2538_5594-2537insAAATATATATATATATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0036 a0001c0010t0001g0036	1	204	0.0049	31	c.559 others(50): Show c.5594-2538_5594-2537insAAAAATATATATATATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG04228.hp2 NA18948.hp1 others(1): Show HG00438.hp2 HG04228.hp2 NA18948.hp1 NA21309.hp2	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0026	a0001c0010 a0003c0022 a0010c0108 others(1): Show a0001c0010 a0003c0022 a0010c0108 a0026c0114	a0001c0010t0006 a0003c0022t0004 a0010c0108t0040 others(1): Show a0001c0010t0006 a0003c0022t0004 a0010c0108t0040 a0026c0114t0094	a0001c0010t0006g0053 a0003c0022t0004g0086 a0010c0108t0040g0183 others(1): Show a0001c0010t0006g0053 a0003c0022t0004g0086 a0010c0108t0040g0183 a0026c0114t0094g0179	4	204	0.0196	31	c.559 others(50): Show c.5594-2538_5594-2537insAAAAAAAAAAAAATATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0093 a0001c0046t0093	a0001c0046t0093g0044 a0001c0046t0093g0044	1	204	0.0049	31	c.559 others(50): Show c.5594-2538_5594-2537insAAAAAAAAAAAAAAATATATATATAT ATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03225.hp2 HG00323.hp2 HG03225.hp2	a0001 a0018 a0001 a0018	a0001c0005 a0018c0086 a0001c0005 a0018c0086	a0001c0005t0001 a0018c0086t0012 a0001c0005t0001 a0018c0086t0012	a0001c0005t0001g0050 a0018c0086t0012g0204 a0001c0005t0001g0050 a0018c0086t0012g0204	2	204	0.0098	31	c.559 others(50): Show c.5594-2539_5594-2538insTATATATATATATATATATATATATA TATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454881	T T	TATATATT others(24): Show TATATATTATATAATAGATATATAATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03195.hp1 NA18906.hp1 HG01884.hp1 HG03195.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0008 a0004c0004t0001g0144 a0004c0004t0001g0008 a0004c0004t0001g0144	3	454	0.0066	31	c.51 others(42): Show c.5139_*5140insTAATATATTATATATCTATTATATAATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4347		chr22	TogoVar
SEC22A_chr3_123196943_123279136	123260131	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	340	0.0029	31	c.723 others(46): Show c.723+550_723+580dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC24D_chr4_118717823_118841126	118810780	A A	AGGAAAGG others(24): Show AGGAAAGGTCCAAAGACTAAGACTAAGTCTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	300	0.0033	31	c.801 others(48): Show c.801+4217_801+4247dupAAAGACTTAGTCTTAGTCTTTGGACCTT TCC	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(24): Show CATATATATATATATATTCCATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	324	0.0031	31	c.115 others(48): Show c.115-2706_115-2705insATATATATATATGGAATATATATATATA TAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(24): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18952.hp2 NA18961.hp2 others(4): Show HG02630.hp2 NA18952.hp2 NA18961.hp2 NA18970.hp2 NA18997.hp2 NA19011.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0002g0004 a0001c0001t0002g0016 others(4): Show a0001c0001t0001g0166 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0002g0062 a0001c0001t0002g0067	7	324	0.0216	31	c.115 others(48): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	324	0.0031	31	c.58+ others(46): Show c.58+7453_58+7454insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SELE_chr1_169717640_169739079	169737458	T T	TTTATATA others(24): Show TTTATATATAAATATAGATATTTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02132.hp1 HG01255.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	438	0.0046	31	c.-35 others(42): Show c.-3567_-3537dupTATATATAAAAATATCTATATTTATATATAA	SELE	ENSG00000007908.16	transcript	ENST00000333360.12	protein_coding		3380		chr1	TogoVar

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