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
SLITRK5_chr13_87666371_87684616	87679800	G G	GTATATAG others(22): Show GTATATAGTATATATATAGTATATAGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	2	404	0.0050	29	c.15 others(40): Show c.1535_*1536insTATATAGTATATATATAGTATATAGTATA	SLITRK5	ENSG00000165300.8	transcript	ENST00000683689.1	protein_coding		185		chr13	TogoVar
SLMAP_chr3_57751309_57935003	57868998	A A	ATTATATA others(22): Show ATTATATATAATATATATTATATGTGTATT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	310	0.0032	29	c.123 others(48): Show c.1238-2637_1238-2609dupTTATATATAATATATATTATATGTGT ATT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(22): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG02055.hp2 others(5): Show HG00544.hp1 HG00673.hp1 HG02055.hp2 NA18944.hp2 NA18949.hp2 NA18957.hp2 NA18980.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0004t0002 a0001c0006t0002 a0001c0001t0002 a0001c0004t0002 a0001c0006t0002	a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0036 others(5): Show a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0058 a0001c0001t0002g0069 a0001c0004t0002g0013 a0001c0004t0002g0018 a0001c0006t0002g0012	8	310	0.0258	29	c.150 others(48): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(22): Show CTTTTTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	310	0.0032	29	c.150 others(48): Show c.1502-1566_1502-1565insCTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258274	A A	AGATAGAT others(22): Show AGATAGATATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	398	0.0025	29	c.-37 others(40): Show c.-3732_-3731insATCTATCTATCTATCTATCTATATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3711		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp2 HG01517.hp2 others(2): Show HG00738.hp2 HG01243.hp2 HG01517.hp2 HG03139.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0276 a0001c0001t0002g0339 a0001c0001t0002g0352 others(2): Show a0001c0001t0002g0276 a0001c0001t0002g0339 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0002t0001g0076	5	386	0.0130	29	c.299 others(48): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850620	T T	TATTATAT others(22): Show TATTATATATATTATGTATAATATATATTA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	310	0.0032	29	c.784 others(44): Show c.784+653_784+654insTAATATATATTATACATAATATATATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19079.hp1 HG01074.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0075 a0001c0001t0043 a0001c0001t0075	a0001c0001t0043g0255 a0001c0001t0075g0288 a0001c0001t0043g0255 a0001c0001t0075g0288	2	310	0.0065	29	c.237 others(48): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	286	0.0035	29	c.28 others(40): Show c.2853_*2854insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar
SMARCE1_chr17_40619962_40652818	40626865	A A	ACTCCAAC others(22): Show ACTCCAACTCAAAAAAAAAAAAAAAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 NA18962.hp2 HG03017.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0076 a0001c0001t0018g0096 a0001c0001t0018g0076 a0001c0001t0018g0096	2	402	0.0050	29	c.19 others(40): Show c.1919_*1920insGCTTTTTTTTTTTTTTTTTTGAGTTGGAG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1919		chr17	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	213	0.0047	29	c.125 others(46): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMG1_chr16_18799860_18931408	18849069	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0239 a0001c0002t0005g0239	1	300	0.0033	29	c.562 others(46): Show c.5623+119_5623+147dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02258.hp2 HG04199.hp2 HG02132.hp1 HG02258.hp2 HG04199.hp2	a0002 a0023 a0002 a0023	a0002c0002 a0023c0016 a0002c0002 a0023c0016	a0002c0002t0001 a0002c0002t0002 a0023c0016t0001 a0002c0002t0001 a0002c0002t0002 a0023c0016t0001	a0002c0002t0001g0095 a0002c0002t0002g0075 a0023c0016t0001g0002 a0002c0002t0001g0095 a0002c0002t0002g0075 a0023c0016t0001g0002	3	278	0.0108	29	c.335 others(50): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMIM14_chr4_39541336_39643865	39580516	T T	TGTTTCTT others(22): Show TGTTTCTTTCTCTTTCTTTTTTTTTTTAGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	344	0.0029	29	c.76- others(44): Show c.76-8054_76-8053insTCTAAAAAAAAAAAGAAAGAGAAAGAAAC	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18947.hp1 NA18990.hp2 HG01943.hp1 NA18947.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0119 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0001g0119 a0001c0001t0004g0031 a0001c0001t0004g0032	3	344	0.0087	29	c.76- others(46): Show c.76-12019_76-12018insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM28_chr6_138372905_138388486	138380787	T T	TAAATAAA others(22): Show TAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02257.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0039 a0002c0002t0012g0038 a0002c0002t0002g0039 a0002c0002t0012g0038	2	374	0.0054	29	c.112 others(46): Show c.112-1709_112-1708insAAATAAATAAATAAATAAATAAATAAAA T	SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM36_chr17_55444856_55516452	55500850	A A	ATTTTATA others(22): Show ATTTTATAATATGTAATATATTATTATATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG02027.hp2 others(17): Show HG01081.hp2 HG01109.hp2 HG02027.hp2 HG02074.hp2 HG02129.hp2 HG02630.hp1 HG02896.hp1 HG03225.hp1 HG03540.hp1 HG03704.hp1 NA18747.hp1 NA18941.hp2 NA18964.hp1 NA18979.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011	a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 others(17): Show a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0316 a0001c0001t0006g0266 a0001c0001t0011g0247	20	340	0.0588	29	c.17 others(50): Show c.174+10028_*174+10029insAATATAATAATATATTACATATTA TAAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55500938	T T	TATATAAA others(22): Show TATATAAAAATATATATTATATATTTTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02451.hp1 others(10): Show HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014	a0001c0001t0002g0322 a0001c0001t0006g0319 a0001c0001t0006g0323 others(10): Show a0001c0001t0002g0322 a0001c0001t0006g0319 a0001c0001t0006g0323 a0001c0001t0006g0330 a0001c0001t0008g0285 a0001c0001t0008g0287 a0001c0001t0008g0318 a0001c0001t0008g0320 a0001c0001t0008g0321 a0001c0001t0008g0324 a0001c0001t0011g0317 a0001c0001t0014g0279 a0001c0001t0014g0286	13	340	0.0382	29	c.17 others(48): Show c.174+9940_*174+9941insTATAAAATATATAATATATATTTTTA TAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55500967	T T	TATATAAA others(22): Show TATATAAAAATATATATTATATATTTTATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01069.hp1 others(33): Show HG00544.hp2 HG00597.hp1 HG01069.hp1 HG01255.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18948.hp2 NA18959.hp2 NA18963.hp2 NA18988.hp1 NA18989.hp2 NA19030.hp2 NA19058.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011	a0001c0001t0002g0250 a0001c0001t0002g0272 a0001c0001t0002g0274 others(33): Show a0001c0001t0002g0250 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0006g0270 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0006g0288 a0001c0001t0006g0293 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0298 a0001c0001t0006g0299 a0001c0001t0006g0301 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0314 a0001c0001t0008g0273 a0001c0001t0011g0271	36	340	0.1059	29	c.17 others(48): Show c.174+9911_*174+9912insTATAAAATATATAATATATATTTTTA TAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM39_chr2_131030092_131040262	131038431	C C	CCCAGCCT others(22): Show CCCAGCCTCTCCCTCCTGCAGCCTTGCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02615.hp1 others(4): Show HG01257.hp2 HG01258.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG03098.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	7	348	0.0201	29	c.31 others(40): Show c.3169_*3170insCCAGCCTCTCCCTCCTGCAGCCTTGCAGT	SMIM39	ENSG00000284479.3	transcript	ENST00000711663.1	protein_coding		3170		chr2	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	406	0.0025	29	c.16 others(40): Show c.1695_*1696insTATATATATATATATATATTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMS_chrX_21935709_21999837	21944544	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18940.hp1 NA19067.hp1 HG01261.hp1 NA18940.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0233	3	298	0.0101	29	c.49+ others(44): Show c.49+3672_49+3673insAAAAAAAAAAAAAAAAAAAAAAGAAAAGA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4586926	G G	GGGAACTC others(22): Show GGGAACTCCAGGTGACGCTGTCCCAGAGCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18992.hp1 NA19005.hp2 NA18950.hp2 NA18992.hp1 NA19005.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262	3	442	0.0068	29	c.399 others(46): Show c.399+1936_399+1937insCGCTGTCCCAGAGCAGGAACTCCAGGTG A	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMYD2_chr1_214276159_214342131	214340870	C C	CTCCCTTA others(22): Show CTCCCTTAGGCCCCCCCTTATTTTATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	380	0.0026	29	c.40 others(40): Show c.4086_*4087insTCCCTTAGGCCCCCCCTTATTTTATGTGA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding		3740		chr1	TogoVar
SMYD3_chr1_245744347_246512279	245799450	T T	TAGTCCCT others(22): Show TAGTCCCTCCTGCCTACCTTCTACTCTAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(134): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18984.hp1 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0003c0010 a0004c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0006t0003 a0001c0009t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0003c0010t0001 a0004c0013t0002 a0005c0015t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(134): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0037 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0006t0001g0022 a0001c0006t0001g0025 a0001c0006t0001g0035 a0001c0006t0001g0076 a0001c0006t0003g0001 a0001c0009t0001g0002 a0001c0011t0002g0049 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0096 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0133 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0001g0144 a0002c0003t0001g0148 a0002c0003t0002g0095 a0002c0003t0002g0102 a0002c0003t0002g0104 a0002c0003t0002g0110 a0002c0003t0002g0114 a0002c0003t0002g0116 a0002c0003t0002g0130 a0002c0003t0002g0131 a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0003t0002g0150 a0002c0004t0001g0098 a0002c0004t0001g0107 a0002c0004t0001g0113 a0002c0004t0001g0117 a0002c0004t0001g0119 a0002c0004t0001g0121 a0002c0004t0001g0126 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0001g0149 a0002c0004t0002g0139 a0002c0005t0001g0136 a0002c0005t0001g0138 a0002c0005t0001g0142 a0002c0005t0001g0146 a0002c0005t0002g0106 a0002c0005t0002g0115 a0002c0005t0002g0118 a0002c0007t0001g0120 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122 a0003c0010t0001g0031 a0004c0013t0002g0072 a0005c0015t0002g0094	137	150	0.9133	29	c.107 others(50): Show c.1077-35302_1077-35301insCTTAGAGTAGAAGGTAGGCAGGAG GGACT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03831.hp2 HG01109.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0055 a0001c0002t0001g0062 a0001c0001t0001g0055 a0001c0002t0001g0062	2	150	0.0133	29	c.107 others(50): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTTTTTTTT TTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246292135	C C	CAGCATCT others(22): Show CAGCATCTTAGACTTACTATCCAACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG02004.hp2 others(25): Show HG01109.hp2 HG01175.hp2 HG02004.hp2 HG02027.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA19030.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0009t0001 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 others(25): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0060 a0001c0002t0002g0078 a0001c0009t0001g0002 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0096 a0002c0003t0001g0105 a0002c0003t0001g0111 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0003t0002g0102 a0002c0003t0002g0110 a0002c0004t0001g0119 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0002g0139 a0002c0005t0001g0142 a0002c0005t0002g0106 a0002c0005t0002g0118	28	150	0.1867	29	c.531 others(48): Show c.531+35065_531+35066insTGTGTGTTGGATAGTAAGTCTAAGAT GCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246292344	A A	ATTAGACT others(22): Show ATTAGACTTACTATCCAACACACCAGCATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	150	0.0067	29	c.531 others(48): Show c.531+34828_531+34856dupGATGCTGGTGTGTTGGATAGTAAGTC TAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325018	A A	AGCGGGAA others(22): Show AGCGGGAAGGAGGGAGAAGGAGTCGCGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02132.hp1 NA18984.hp1 others(3): Show HG00621.hp2 HG02132.hp1 NA18984.hp1 NA19000.hp2 NA19057.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0002g0068 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0002t0001g0073 a0001c0002t0002g0010 a0002c0003t0001g0100	6	150	0.0400	29	c.531 others(46): Show c.531+2182_531+2183insCCCCGCGACTCCTTCTCCCTCCTTCCCG C	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325041	C C	CGGGGGGC others(22): Show CGGGGGGCAGGAAGGAGGGAGAAGGAGTCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02300.hp2 HG02622.hp2 others(2): Show HG01243.hp2 HG02300.hp2 HG02622.hp2 HG02970.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0001c0001t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0002g0014 a0002c0003t0001g0133 a0002c0003t0002g0116 others(2): Show a0001c0001t0002g0014 a0002c0003t0001g0133 a0002c0003t0002g0116 a0002c0003t0002g0145 a0002c0003t0002g0147	5	150	0.0333	29	c.531 others(46): Show c.531+2131_531+2159dupCGACTCCTTCTCCCTCCTTCCTGCCCCC C	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325221	G G	GGGAAGGA others(22): Show GGGAAGGAGGGAGAAGGAGTCGGGGGGGCA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	150	0.0067	29	c.531 others(46): Show c.531+1979_531+1980insTGCCCCCCCGACTCCTTCTCCCTCCTTC C	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGCG others(22): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	150	0.0067	29	c.531 others(46): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC C	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325269	C C	CGCGGGGG others(22): Show CGCGGGGGCGGGAAGGAGGGAGAAGGAGTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01081.hp1 others(15): Show HG00408.hp2 HG00423.hp2 HG01081.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02559.hp1 HG03017.hp1 HG03491.hp1 HG04228.hp1 NA18747.hp1 NA18965.hp1 NA18984.hp2 NA19057.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0005c0015t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0054 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0002g0010 a0001c0002t0002g0037 a0002c0003t0001g0109 a0002c0003t0002g0104 a0005c0015t0002g0094	18	150	0.1200	29	c.531 others(46): Show c.531+1931_531+1932insAACTCCTTCTCCCTCCTTCCCGCCCCCG C	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325271	G G	GGGGGGCG others(22): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02145.hp1 HG02647.hp1 others(3): Show HG02027.hp2 HG02145.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 others(2): Show a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0002 a0001c0006t0003 a0002c0003t0001 others(2): Show a0001c0001t0002 a0001c0006t0003 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001	a0001c0001t0002g0051 a0001c0006t0003g0001 a0002c0003t0001g0144 others(3): Show a0001c0001t0002g0051 a0001c0006t0003g0001 a0002c0003t0001g0144 a0002c0004t0001g0107 a0002c0004t0001g0127 a0002c0005t0001g0136	6	150	0.0400	29	c.531 others(46): Show c.531+1929_531+1930insGCGACTCCTTCTCCCTCCTTCCCGCCCC C	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325296	G G	GTCGGGGG others(22): Show GTCGGGGGGCGGGAAGGAGGGAGAAGGAGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	150	0.0067	29	c.531 others(46): Show c.531+1904_531+1905insACTCCTTCTCCCTCCTTCCCGCCCCCCG A	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0103 a0006c0005t0005g0103	1	390	0.0026	29	c.153 others(48): Show c.1537+5751_1537+5752insAAAAAAATATATATATATATATATAT ATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTATTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18973.hp2 NA18975.hp2 NA18945.hp2 NA18973.hp2 NA18975.hp2	a0008 a0008	a0008c0008 a0008c0028 a0008c0008 a0008c0028	a0008c0008t0003 a0008c0028t0003 a0008c0008t0003 a0008c0028t0003	a0008c0008t0003g0091 a0008c0008t0003g0102 a0008c0028t0003g0134 a0008c0008t0003g0091 a0008c0008t0003g0102 a0008c0028t0003g0134	3	390	0.0077	29	c.153 others(48): Show c.1537+5751_1537+5752insAAAAATAAATATATATATATATATAT ATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNAI1_chr20_49977980_49993886	49991714	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	440	0.0023	29	c.36 others(40): Show c.3658_*3659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		2829		chr20	TogoVar
SNAI3_chr16_88672688_88691507	88682762	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02135.hp2 HG00438.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0120 a0001c0001t0002g0121	2	400	0.0050	29	c.77- others(44): Show c.77-1077_77-1049dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	1/2			chr16	TogoVar
SNAP23_chr15_42490634_42538058	42525451	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0233	1	308	0.0033	29	c.267 others(46): Show c.267-2809_267-2781dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNAPIN_chr1_153653703_153666852	153658903	T T	TTGGGGGC others(22): Show TTGGGGGCGGGGCCTGTCTCTCTGGCTTTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	400	0.0025	29	c.143 others(42): Show c.143+19_143+47dupGGGGGCGGGGCCTGTCTCTCTGGCTTTGT	SNAPIN	ENSG00000143553.11	transcript	ENST00000368685.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
SND1_chr7_127647194_128097593	127922184	T T	TTTTTTTT others(22): Show TTTTTTTTGTTTTTTTTTGTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG02723.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	262	0.0076	29	c.152 others(48): Show c.1528-6997_1528-6996insGTTTTTTTTTGTTTTTTTTTTGTTTT TTT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	241057380	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0004 a0003c0024t0004	a0003c0024t0004g0281 a0003c0024t0004g0281	1	344	0.0029	29	c.225 others(48): Show c.2257+4054_2257+4055insTATATATATATATATATATATATATA TAT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	16/31			chr2	TogoVar
SNN_chr16_11663455_11684152	11673903	T T	TGGAGTCA others(22): Show TGGAGTCAGGGGGAAGGCAGTGGAATGGAG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	440	0.0023	29	c.-85 others(46): Show c.-85-2067_-85-2039dupTCAGGGGGAAGGCAGTGGAATGGAGGGA G	SNN	ENSG00000184602.6	transcript	ENST00000329565.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNRPD3_chr22_24550999_24579971	24561064	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0251 a0001c0002t0002g0251	1	400	0.0025	29	c.126 others(46): Show c.126+3289_126+3290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SNRPG_chr2_70276362_70298740	70283096	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	424	0.0024	29	c.181 others(46): Show c.181-1413_181-1412insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SNRPG	ENSG00000143977.14	transcript	ENST00000272348.7	protein_coding	3/3			chr2	TogoVar
SNTB2_chr16_69182164_69314052	69199595	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	218	0.0046	29	c.580 others(48): Show c.580+11865_580+11866insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTTTTT others(22): Show TTTTTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0069 a0001c0002t0038g0069	1	106	0.0094	29	c.-10 others(50): Show c.-103+26375_-103+26376insTTTTCTTTTCTTTCTTTCTTTCTT TCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701618	C C	CTTCTTCT others(22): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 HG03669.hp2 others(2): Show HG02451.hp1 HG03209.hp1 HG03669.hp2 NA18968.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0026	a0001c0001t0002g0026 a0001c0001t0004g0074 a0001c0001t0004g0078 others(2): Show a0001c0001t0002g0026 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0009g0085 a0001c0001t0026g0095	5	106	0.0472	29	c.103 others(48): Show c.1039-2982_1039-2981insTTCTTCTTCTTCTTCTTCTTCTTCTT CTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18			chr8	TogoVar
SNTG2_chr2_945849_1372613	983183	A A	AGCAGAAG others(22): Show AGCAGAAGCTGCAGAGGTGGTGGTCAGGAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0002 a0007c0024t0002	a0007c0024t0002g0073 a0007c0024t0002g0073	1	190	0.0053	29	c.72+ others(46): Show c.72+32135_72+32163dupTGGTCAGGATGCAGAAGCTGCAGAGGTG G	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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