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 limited to 10,000 hits. Refine your search for more specific results.

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
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(101): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0342 a0002c0001t0001g0342	1	396	0.0025	108	c.108 others(127): Show c.1083+4473_1083+4474insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(101): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18943.hp2 NA18942.hp2 NA18943.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0007 a0001c0008 a0003c0007	a0001c0008t0002 a0003c0007t0001 a0001c0008t0002 a0003c0007t0001	a0001c0008t0002g0214 a0003c0007t0001g0346 a0001c0008t0002g0214 a0003c0007t0001g0346	2	396	0.0051	108	c.108 others(127): Show c.1083+4481_1083+4482insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A5_chr1_9030106_9074635	9053317	A A	ATATATTT others(101): Show ATATATTTATATATATTATATATTTATATATTATATATATTTATATATAT TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	336	0.0030	108	c.293 others(125): Show c.293+4130_293+4131insAATATATATAATATATAAATATATAATA TATATAAATATATATAATATATAAATATATAATATATATAAATATATATA ATATATAAATATATAATATATATAAATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC34A1_chr5_177379434_177403848	177396515	T T	TCTCTCCC others(101): Show TCTCTCCCAGTGCCCCCGCGGAGGTCCGCTCTCCCAGTGCCCCCGCGGAG GTCCTCTCTCCCAGTGCCCCCGCGGAGGTCCTCTCTCCCAGTGCCCCCGC GGAGATCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 HG01496.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	432	0.0046	108	c.117 others(124): Show c.1175-165_1175-58dupCTCTCTCCCAGTGCCCCCGCGGAGGTCCT CTCTCCCAGTGCCCCCGCGGAGATCCGCTCTCCCAGTGCCCCCGCGGAGG TCCGCTCTCCCAGTGCCCCCGCGGAGGTC	SLC34A1	ENSG00000131183.11	transcript	ENST00000324417.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC39A11_chr17_72640949_73097688	72948280	C C	CAAACCCC others(101): Show CAAACCCCACTGCAAGCGTCATCGCCGCACGCACACAAAACCCCACTGCA AGCGTCATCGCCGCACGCACACAAAACCCCACTGCAAGCGTCATCGCCGC ACGCACACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18999.hp2 HG02559.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0005 a0001c0020t0001 a0001c0001t0005 a0001c0020t0001	a0001c0001t0005g0088 a0001c0020t0001g0020 a0001c0001t0005g0088 a0001c0020t0001g0020	2	180	0.0111	108	c.307 others(123): Show c.307-513_307-406dupTGTGTGCGTGCGGCGATGACGCTTGCAGTG GGGTTTTGTGTGCGTGCGGCGATGACGCTTGCAGTGGGGTTTTGTGTGCG TGCGGCGATGACGCTTGCAGTGGGGTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(101): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAG AAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	108	c.42 others(119): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCCTCTTCCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(101): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAG AAGAGGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0071 a0003c0005t0003g0071	1	330	0.0030	108	c.42 others(119): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCCTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(101): Show GGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAGGAAGAGGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	108	c.42 others(119): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCCTCTTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79921901	A A	AGGTCAGT others(101): Show AGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGG AGAGATGGACCAAGTGAGAAGTCAAGGTCACGGAGGAGAGTTGGGAACTA AGAGGTCAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0280 a0001c0001t0007g0280	1	352	0.0028	108	c.392 others(125): Show c.392-2502_392-2501insCTGACCTCTTAGTTCCCAACTCTCCTCC GTGACCTTGACTTCTCACTTGGTCCATCTCTCCCCACTGACCTTGACCTC TCCCTCGGTTCCTGTCTCTCCTCACTGACC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(101): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	410	0.0024	108	c.152 others(125): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC8A1_chr2_40092270_40457090	40200222	T T	TTATATAT others(101): Show TTATATATATATATAAATATATATATATATTTATATATATATAAATATAT ATATATATTTATATATATATATAAATATATATATATATATATATATATAA ATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0112 a0001c0001t0020g0112	1	236	0.0042	108	c.180 others(129): Show c.1809-21730_1809-21729insTATATATATTTATATATATATATA TATATATATATTTATATATATATATAAATATATATATATATTTATATATA TATAAATATATATATATATTTATATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200228	A A	ATATATAA others(101): Show ATATATAAATATATATATATATTTATATATATATAAATATATATATATAT TTATATATATATATAAATATATATATATATATATATATATAAATATATAT ATATTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0071 a0001c0001t0026g0071	1	236	0.0042	108	c.180 others(129): Show c.1809-21736_1809-21735insAAAAAATATATATATATTTATATA TATATATATATATATATATTTATATATATATATAAATATATATATATATT TATATATATATAAATATATATATATATTTATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A7_chrX_46594251_46764118	46738027	A A	AAAAGAAA others(101): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0206 a0001c0001t0030g0206	1	250	0.0040	108	c.325 others(127): Show c.325+20677_325+20678insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A9_chr3_143260222_143853468	143280251	T T	TTAGGGAA others(101): Show TTAGGGAACAAAATGAATACACACACACTTCCCACCCCAGCAATGTTGAC TGTAACCCATTGAGTTTGTTATACGAATCCAGGTATGTAACACTGGGTTA TTTTTGAGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp1 HG02886.hp1 others(1): Show HG01255.hp2 HG02258.hp1 HG02886.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0016	a0001c0002t0004 a0001c0003t0008 a0001c0005t0012 others(1): Show a0001c0002t0004 a0001c0003t0008 a0001c0005t0012 a0001c0016t0013	a0001c0002t0004g0086 a0001c0003t0008g0074 a0001c0005t0012g0097 others(1): Show a0001c0002t0004g0086 a0001c0003t0008g0074 a0001c0005t0012g0097 a0001c0016t0013g0084	4	108	0.0370	108	c.160 others(129): Show c.1605-11379_1605-11272dupGCTCAAAAATAACCCAGTGTTACA TACCTGGATTCGTATAACAAACTCAATGGGTTACAGTCAACATTGCTGGG GTGGGAAGTGTGTGTGTATTCATTTTGTTCCCTA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	14/15			chr3	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(101): Show GCCCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0229 a0006c0016t0001g0229	1	432	0.0023	108	c.127 others(125): Show c.1277-261_1277-260insCCCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLIT2_chr4_20246905_20625561	20472250	A A	ATATATCT others(101): Show ATATATCTATATATATAGATATATATATCTATATATATCTATATATAGAT ATATATATCTATATATCTATATATATAGATATATATCTATATATATATAG ATATATATC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0048 a0001c0002t0081g0048	1	230	0.0044	108	c.467 others(125): Show c.467+4431_467+4432insTCTATATATATAGATATATATATCTATA TATATCTATATATAGATATATATATCTATATATCTATATATATAGATATA TATCTATATATATATAGATATATATCTATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472250	A A	ATATATCT others(101): Show ATATATCTATATATATAGATATATATATCTATATATATCTATATATATAG ATATATATATCTATATATCTATATATATAGATATATATCTATATATATAG ATATATATC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0073 a0001c0012t0073	a0001c0012t0073g0201 a0001c0012t0073g0201	1	230	0.0044	108	c.467 others(125): Show c.467+4431_467+4432insTCTATATATATAGATATATATATCTATA TATATCTATATATATAGATATATATATCTATATATCTATATATATAGATA TATATCTATATATATAGATATATATCTATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMC6_chr2_17658812_17758810	17753324	T T	TGGGGACG others(101): Show TGGGGACGGCCGCCTGGGAGGGGACGGCCGCCTGGGAGGGGACGGCCGCC TGGGAGGGGACGGCCGCCTGGGAGGGGACGGCCGCCTGGGAGGGGACGGC CGCCTGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20129.hp1 HG02809.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0230 a0001c0001t0002g0231	2	254	0.0079	108	c.-92 others(123): Show c.-92-261_-92-260insTCCCAGGCGGCCGTCCCCTCCCAGGCGGCC GTCCCCTCCCAGGCGGCCGTCCCCTCCCAGGCGGCCGTCCCCTCCCAGGC GGCCGTCCCCTCCCAGGCGGCCGTCCCC	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	1/27			chr2	TogoVar
SMCO1_chr3_196501879_196520346	196511899	G G	GATTGTCC others(101): Show GATTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATG AGGGAAACCTGCCTGGGCCGCCTAGATTGTCCTTATGAGGGAAACCTGCC TGGGCCGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp1 NA19030.hp1 HG02965.hp1 HG02976.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0042 a0004c0004t0003g0148 a0004c0004t0003g0042 a0004c0004t0003g0148	3	398	0.0075	108	c.51- others(123): Show c.51-2231_51-2230insGGCGGCCCAGGCAGGTTTCCCTCATAAGGA CAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACAATCTAGGCGGC CCAGGCAGGTTTCCCTCATAAGGACAAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMIM36_chr17_55444856_55516452	55501395	T T	TATATATT others(101): Show TATATATTATTATATATTATAAAATATAATATATTATTATATATTATAAA ATATAATATATTATTATATATTATAAAATATAATATATTATTATATATTA TAAAATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0060 a0001c0001t0001g0063	2	340	0.0059	108	c.17 others(127): Show c.174+9483_*174+9484insTATATTTTATAATATATAATAATATA TTATATTTTATAATATATAATAATATATTATATTTTATAATATATAATAA TATATTATATTTTATAATATATAATAATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168593343	C C	CGAGGGGC others(101): Show CGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG03516.hp2 HG01891.hp1 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0002t0002g0036 a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0002t0002g0036	3	180	0.0167	108	c.638 others(125): Show c.638-5474_638-5473insAGGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(101): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCCCCCACGCCCCACGTCCCCC CTCCCCCACACCCCAGGTCCCCCTCCCCCACACCCTGCATCCCCTCCCCC ACGCCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 NA18944.hp2 NA19000.hp2 others(2): Show HG02738.hp2 NA18944.hp2 NA19000.hp2 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0172 a0001c0002t0002g0007 a0001c0002t0002g0019 others(2): Show a0001c0001t0001g0172 a0001c0002t0002g0007 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0065	5	180	0.0278	108	c.25 others(119): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCCCCCA CGCCCCACGTCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCCACACCC TGCATCCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SMPX_chrX_21700978_21763116	21731428	T T	TATGTGTG others(101): Show TATGTGTGTATGTGTACACATACACATAATGTGTGTATGTGTACACATAC ACATAATGTGTGTATGTGTACACATACACATAATGTGTGTATGTGTACAC ATACACATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18939.hp2 NA18984.hp1 others(1): Show HG03239.hp1 NA18939.hp2 NA18984.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0014 a0001c0001t0001g0117 a0001c0001t0001g0118	4	289	0.0138	108	c.14 others(125): Show c.14+6120_*14+6121insTATGTGTATGTGTACACATACACACATT ATGTGTATGTGTACACATACACACATTATGTGTATGTGTACACATACACA CATTATGTGTATGTGTACACATACACACAT	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SNED1_chr2_240993618_241100568	241036053	T T	TGCGTCAC others(101): Show TGCGTCACGGGGTGGGTGGGGGGTGGAGGTGCGTCACGGGGTGGGTGGGG GGTGGAGGTGCGTCACGGGGTGGGGGTTGGGGGGTGGAGGTGCGTCACGG GGTGGGGGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0014 a0002c0022t0014	a0002c0022t0014g0327 a0002c0022t0014g0327	1	344	0.0029	108	c.806 others(123): Show c.806-730_806-729insGGGGTGGGTGGGGGGTGGAGGTGCGTCACG GGGTGGGTGGGGGGTGGAGGTGCGTCACGGGGTGGGGGTTGGGGGGTGGA GGTGCGTCACGGGGTGGGGGCGCGTCAC	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221591	T T	TCTCTGCC others(101): Show TCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTC TCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTC TGCCTCTGC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02280.hp2 HG02293.hp1 others(1): Show HG01256.hp1 HG02280.hp2 HG02293.hp1 NA20300.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0013 a0001c0001 a0002c0003 a0009c0013	a0001c0001t0001 a0002c0003t0001 a0009c0013t0001 a0001c0001t0001 a0002c0003t0001 a0009c0013t0001	a0001c0001t0001g0025 a0002c0003t0001g0158 a0002c0003t0001g0183 others(1): Show a0001c0001t0001g0025 a0002c0003t0001g0158 a0002c0003t0001g0183 a0009c0013t0001g0132	4	190	0.0211	108	c.719 others(127): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222041	C C	CTGTCTCT others(101): Show CTGTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGT CTCTGTCTCTCTCTCTCTGTCTCTGTTTCTGTCTCTGTCTCTATCTCTGT CTCTCTCTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0016 a0016	a0016c0034 a0016c0034	a0016c0034t0001 a0016c0034t0001	a0016c0034t0001g0146 a0016c0034t0001g0146	1	190	0.0053	108	c.719 others(127): Show c.719+12812_719+12813insGTCTCTCTGTCTCTGCCTCTCTCTGT CTCTGTCTGTGTCTCTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGTTT CTGTCTCTGTCTCTATCTCTGTCTCTCTCTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1262582	T T	TCTCAGTC others(101): Show TCTCAGTCCAGACGAGGAAACCCAAAGGCTCAGTCCAGACGAGGAAACCC AAAGGCTCAGTCCAGACGAGGAAACCCAAAGGCTCAGTCCAGACGAGGAA ACCCAAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0045 a0011c0018t0001g0045	1	190	0.0053	108	c.107 others(127): Show c.1077+3208_1077+3209insAGGAAACCCAAAGGCTCAGTCCAGAC GAGGAAACCCAAAGGCTCAGTCCAGACGAGGAAACCCAAAGGCTCAGTCC AGACGAGGAAACCCAAAGGCTCAGTCCAGACG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX18_chr5_54512759_54551586	54513984	A A	ATATATGA others(101): Show ATATATGATATATATAAATTTATATAATATATAAATATATATGATATATA TAAATTTATATAATATATAAATTTATATGATATATATAAATTTATATAAT ATATAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0001 a0001c0001t0034g0001	1	390	0.0026	108	c.-39 others(119): Show c.-3969_-3968insTATATGATATATATAAATTTATATAATATATAAA TATATATGATATATATAAATTTATATAATATATAAATTTATATGATATAT ATAAATTTATATAATATATAAATT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3774		chr5	TogoVar
SNX18_chr5_54512759_54551586	54514195	A A	AATATATG others(101): Show AATATATGATATATATAAATTTATATATTATATAAATATATATGATATAT ATAAATTTATATAATATATAAATATATATGATATATATAAATTTATATAA TATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(29): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG01074.hp2 HG01081.hp2 HG01169.hp1 HG01257.hp1 HG02027.hp1 HG02132.hp2 HG02155.hp1 HG02258.hp1 HG02683.hp2 HG02717.hp1 HG02886.hp2 HG03017.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03831.hp2 HG04115.hp1 NA18747.hp2 NA18947.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18982.hp1 NA18995.hp2 NA18999.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 others(4): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0014 a0001c0003t0047	a0001c0003t0002g0111 a0001c0003t0004g0114 a0001c0003t0005g0005 others(16): Show a0001c0003t0002g0111 a0001c0003t0004g0114 a0001c0003t0005g0005 a0001c0003t0005g0010 a0001c0003t0005g0041 a0001c0003t0005g0106 a0001c0003t0005g0107 a0001c0003t0005g0112 a0001c0003t0005g0115 a0001c0003t0005g0117 a0001c0003t0006g0020 a0001c0003t0006g0110 a0001c0003t0007g0005 a0001c0003t0007g0042 a0001c0003t0007g0109 a0001c0003t0007g0113 a0001c0003t0007g0119 a0001c0003t0014g0020 a0001c0003t0047g0005	32	390	0.0821	108	c.-37 others(119): Show c.-3758_-3757insATATATGATATATATAAATTTATATATTATATAA ATATATATGATATATATAAATTTATATAATATATAAATATATATGATATA TATAAATTTATATAATATATAAAT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		3563		chr5	TogoVar
SNX29_chr16_11971734_12579287	12322885	T T	TGGGGACC others(101): Show TGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACCACTGTC AGGATGCGGTCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACT GGAGTCACC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02622.hp1 NA20300.hp1 HG01261.hp2 HG02622.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0012 a0001c0002t0024 a0001c0021t0111 a0001c0001t0012 a0001c0002t0024 a0001c0021t0111	a0001c0001t0012g0009 a0001c0002t0024g0050 a0001c0021t0111g0035 a0001c0001t0012g0009 a0001c0002t0024g0050 a0001c0021t0111g0035	3	176	0.0171	108	c.178 others(129): Show c.1783-33242_1783-33135dupCGGGGACCACTGTCAGGATGCGGT CACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCG GGGACCACTGTCAGGATGCGGTCACTGGAGTCAC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SORCS2_chr4_7187538_7747827	7724931	A A	AGTAGTGG others(101): Show AGTAGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGG TGATGGTGGTGGTGATGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTG ATGATGGTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0088	1	168	0.0060	108	c.261 others(125): Show c.2612-202_2612-201insGTGGTGATGGTGATGGTGGTGGTGATGG TGATGGTGGTGGTGATGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTG ATGATGGTGGTAGTGGTGATGGTGGTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORL1_chr11_121447314_121638763	121480691	A A	AGGCAGGC others(101): Show AGGCAGGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGATAC CAATAAGCAAGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAG ATACCTATC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0012 a0001c0008 a0001c0012	a0001c0008t0002 a0001c0012t0002 a0001c0008t0002 a0001c0012t0002	a0001c0008t0002g0177 a0001c0012t0002g0178 a0001c0008t0002g0177 a0001c0012t0002g0178	2	272	0.0074	108	c.528 others(125): Show c.528+2498_528+2499insAATAAGCAAGCTCCATCTCCTCCTCCCC AGCTCCTCCCCTAGTGCACAGATACCTATCGGCAGGCTCCATCTCCTCCT CCCCAGCTCCTCCCCTAGTGCACAGATACC	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121480750	A A	AGCTCCAT others(101): Show AGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGATACCAATA AGCAAGCTCCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGATACC TATCGGCAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	272	0.0037	108	c.528 others(125): Show c.528+2552_528+2553insAATAAGCAAGCTCCATCTCCTCCTCCCC AGCTCCTCCCCTAGTGCACAGATACCTATCGGCAGGCTCCATCTCCTCCT CCCCAGCTCCTCCCCTAGTGCACAGATACC	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SORL1_chr11_121447314_121638763	121481774	C C	CCATCTCC others(101): Show CCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGATACCTATAGGCA GGCTTCATCTCCTCCTCCCCAGCTCCTCCCCTAGTACACAGATACCTATA GGCAGGCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0216 a0001c0021t0003g0216	1	272	0.0037	108	c.528 others(125): Show c.528+3600_528+3707dupCAGCTCCTCCCCTAGTACACAGATACCT ATAGGCAGGCTTCATCTCCTCCTCCCCAGCTCCTCCCCTAGTGCACAGAT ACCTATAGGCAGGCTTCATCTCCTCCTCCC	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPAAR_chr9_35904490_35916686	35913660	T T	TAGTGTGT others(101): Show TAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	108	c.29 others(119): Show c.2969_*2970insAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1975		chr9	TogoVar
SPAG9_chr17_50957174_51125868	51076993	T T	TCTAGCTA others(101): Show TCTAGCTATCTAGCTAGCTAGCTAGCTATCTAGCTATCTATCTAGCTATC TAGCTATCTAGCTAGCTATCTAGCTAGCTATCTAGCTATCTAGCTAGCTA TCTATCTAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18989.hp2 HG02273.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0009 a0001c0001t0014	a0001c0001t0009g0186 a0001c0001t0014g0105 a0001c0001t0009g0186 a0001c0001t0014g0105	2	292	0.0069	108	c.424 others(125): Show c.424+2483_424+2590dupCTAGATAGATAGCTAGCTAGATAGCTAG ATAGCTAGCTAGATAGCTAGCTAGATAGCTAGATAGCTAGATAGATAGCT AGATAGCTAGCTAGCTAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077001	T T	TCTAGCTA others(101): Show TCTAGCTATCTAGCTATCTAGCTAGCTAGCTATCTATCTAGCTATCTAGC TAGCTAGCTATCTATCTAGCTATCTAGCTATCTAGCTAGCTAGCTATCTA GCTAGCTAG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	292	0.0034	108	c.424 others(125): Show c.424+2582_424+2583insCTAGCTAGCTAGATAGCTAGCTAGCTAG ATAGCTAGATAGCTAGATAGATAGCTAGCTAGCTAGATAGCTAGATAGAT AGCTAGCTAGCTAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077001	T T	TCTAGCTA others(101): Show TCTAGCTATCTAGCTATCTAGCTAGCTAGCTATCTATCTAGCTATCTAGC TATCTAGCTAGCTAGCTATCTATCTAGCTATCTAGCTATCTAGCTAGCTA GCTATCTAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	292	0.0034	108	c.424 others(125): Show c.424+2582_424+2583insCTAGATAGCTAGCTAGCTAGATAGCTAG ATAGCTAGATAGATAGCTAGCTAGCTAGATAGCTAGATAGCTAGATAGAT AGCTAGCTAGCTAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPEF2_chr5_35612863_35819611	35713869	T T	TTATATAT others(101): Show TTATATATTTTATATATAGTATATATGTTATATATAGTATATATTTTATA TATAGTATATATGTTATATATAGTATATATTTTATATATAGTATATATGT TATATATAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02922.hp2 others(3): Show HG01243.hp2 HG02258.hp1 HG02922.hp2 HG03195.hp1 HG03486.hp2 HG03704.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0009 a0001c0002 a0008c0009	a0001c0002t0001 a0008c0009t0001 a0001c0002t0001 a0008c0009t0001	a0001c0002t0001g0199 a0008c0009t0001g0165 a0008c0009t0001g0166 others(3): Show a0001c0002t0001g0199 a0008c0009t0001g0165 a0008c0009t0001g0166 a0008c0009t0001g0167 a0008c0009t0001g0168 a0008c0009t0001g0169	6	268	0.0224	108	c.291 others(127): Show c.2914+1022_2914+1023insATATTTTATATATAGTATATATGTTA TATATAGTATATATTTTATATATAGTATATATGTTATATATAGTATATAT TTTATATATAGTATATATGTTATATATAGTAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35713869	T T	TTATATAT others(101): Show TTATATATTTTATATGTAGTATATATGTTATATATAGTATATATTTTATA TATAGTATATATGTTATATATAGTATATATTTTATATATAGTATATATGT TATATATAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18985.hp2 NA18984.hp2 NA18985.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0209 a0002c0001t0001g0210	2	268	0.0075	108	c.291 others(125): Show c.2914+997_2914+998insGTAGTATATATGTTATATATAGTATATA TTTTATATATAGTATATATGTTATATATAGTATATATTTTATATATAGTA TATATGTTATATATAGTATATATTTTATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210235	C C	CATATATA others(101): Show CATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCA TACATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTG CATACATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA21309.hp2 HG02965.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0186 a0002c0002t0001g0100 a0002c0002t0001g0186	2	438	0.0046	108	c.82- others(123): Show c.82-3672_82-3671insTATATGTATGTGTTTCTGCATACATATATA TGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATA TATGTATGTGTTTCTGCATACATATATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210338	A A	ATATGTAT others(101): Show ATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACAT ATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATAC ATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02572.hp1 others(14): Show HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18975.hp1 NA19003.hp1 NA19043.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0072 others(6): Show a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0072 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0109 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185	17	438	0.0388	108	c.82- others(123): Show c.82-3567_82-3566insATGTGTTTCTGCATACATATATATGTATGT GTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGTAT GTGTTTCTGCATACATATATATGTATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPNS3_chr17_4428940_4493204	4462494	C C	CACCCACC others(101): Show CACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACCCA CCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCACC AGTCTATCA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01433.hp1 HG01515.hp1 others(4): Show HG01123.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01981.hp1 HG02257.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0002 a0001c0007t0003 a0001c0001t0001 a0001c0003t0002 a0001c0007t0003	a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0003t0002g0138 others(4): Show a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0150 a0001c0007t0003g0163	7	362	0.0193	108	c.111 others(127): Show c.1113+9290_1113+9291insCCCACCCATCCACCAATCCATCCATC CACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCACCCA CCCACCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462558	C C	CACCAATC others(101): Show CACCAATCCATCCATCCACCAATCCATCCATCTACCCACCCACCAATCCA TCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATTCATC CACCAATCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0284 a0002c0002t0001g0284	1	362	0.0028	108	c.111 others(127): Show c.1113+9354_1113+9355insCCAATCCATCCATCCACCAATCCATC CATCTACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCA CCCACCCACCCACCCATTCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462582	C C	CACCCATC others(101): Show CACCCATCCACCAATCCATCCATCCACCAATCCATCCATCTACCCACCCA CCAATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATTCATC CACCAATCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG03098.hp2 others(1): Show HG01099.hp1 HG02145.hp2 HG03098.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0009 a0004c0017 a0004c0030 others(1): Show a0001c0009 a0004c0017 a0004c0030 a0004c0048	a0001c0009t0002 a0004c0017t0002 a0004c0030t0002 others(1): Show a0001c0009t0002 a0004c0017t0002 a0004c0030t0002 a0004c0048t0002	a0001c0009t0002g0028 a0004c0017t0002g0033 a0004c0030t0002g0009 others(1): Show a0001c0009t0002g0028 a0004c0017t0002g0033 a0004c0030t0002g0009 a0004c0048t0002g0006	4	362	0.0111	108	c.111 others(127): Show c.1113+9378_1113+9379insCCCATCCACCAATCCATCCATCCACC AATCCATCCATCTACCCACCCACCAATCCATCCATCCATCCATCCATCCA CCCACCCACCCACCCATTCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPSB1_chr1_9287894_9374532	9310073	C C	CCTGTGAT others(101): Show CCTGTGATGATGCCTCTGCACCTGCCGTGGGAAGGCCACAGAGTCTAGGG GCCATCTGTGATGATGCCTCTGCACCTGCCGTGGGAAGGCCACAGAGTCT AGGGGCCAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18954.hp2 NA18949.hp1 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0033 a0001c0003t0012 a0001c0003t0033	a0001c0003t0012g0069 a0001c0003t0033g0068 a0001c0003t0012g0069 a0001c0003t0033g0068	2	370	0.0054	108	c.-15 others(129): Show c.-150+17015_-150+17122dupCTCTGCACCTGCCGTGGGAAGGCC ACAGAGTCTAGGGGCCATCTGTGATGATGCCTCTGCACCTGCCGTGGGAA GGCCACAGAGTCTAGGGGCCATCTGTGATGATGC	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	A A	AACACACA others(101): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02451.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0193 a0001c0004t0001g0003 a0001c0004t0001g0193	2	228	0.0088	108	c.-33 others(117): Show c.-335_-334insACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
ST3GAL3_chr1_43702536_43936159	43905559	T T	TGCCACTG others(101): Show TGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTC CCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCT TCTCTTCCC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19084.hp1 NA18969.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0028 a0001c0001t0001g0039	2	274	0.0073	108	c.744 others(125): Show c.744+5854_744+5961dupCCTGCTTCTCTTCCCGCCACTGTTTCTC CCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCT TCTCTTCCCGCCACTGTTTCTCCCCCTCCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905559	T T	TGCCACTG others(101): Show TGCCACTGTTTCTCCCCCTCCTTCTGCTTCTCTTCCCGCCACTGTTTCTC CCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCT TCTCTTCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	274	0.0037	108	c.744 others(125): Show c.744+5853_744+5854insTCTGCTTCTCTTCCCGCCACTGTTTCTC CCCCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCT TCTCTTCCCGCCACTGTTTCTCCCCCTCCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905605	T T	TCTACCCC others(101): Show TCTACCCCTCCTTCTGCCCCCCTTCCCACCACTCTTCCTCCCCCTCCTCC TGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCTG TCACTTTTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18968.hp1 NA19010.hp2 NA18947.hp1 NA18968.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0201 a0001c0001t0003g0211 a0001c0001t0003g0071 a0001c0001t0003g0201 a0001c0001t0003g0211	3	274	0.0110	108	c.744 others(125): Show c.744+5880_744+5881insACCCCTCCTTCTGCCCCCCTTCCCACCA CTCTTCCTCCCCCTCCTCCTGTTCCCCTTCCCACCACTCTTCCTCTCCGT CCTCCTGTTCCCCTTCCTGTCACTTTTCCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar

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