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
SLC43A3_chr11_57401954_57432121	57403574	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	330	0.0030	45	c.42 others(56): Show c.4217_*4218insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3379		chr11	TogoVar
SLC48A1_chr12_47768238_47787751	47769837	A A	AATTAAAT others(38): Show AATTAAATTTAAATTAATTTAAATTAAATACACTAAACTTAAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	436	0.0023	45	c.-34 others(56): Show c.-3468_-3467insATTAAATTTAAATTAATTTAAATTAAATACACTA AACTTAAATAC	SLC48A1	ENSG00000211584.14	transcript	ENST00000442218.3	protein_coding		3400		chr12	TogoVar
SLC4A3_chr2_219622630_219646971	219627527	C C	CCGGCGGC others(38): Show CCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0019 a0003c0005t0002g0019	1	360	0.0028	45	c.-31 others(54): Show c.-312_-311insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGG	SLC4A3	ENSG00000114923.17	transcript	ENST00000358055.8	protein_coding		102		chr2	TogoVar
SLC5A9_chr1_48217716_48253638	48227176	C C	CGTGTGTG others(38): Show CGTGTGTGTGTACTGTGCCTGTGTGTGCGTGAGTGCATGTGTGTCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG02451.hp2 others(7): Show HG01192.hp2 HG02055.hp1 HG02451.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 NA20300.hp1	a0001 a0011 a0018 a0001 a0011 a0018	a0001c0001 a0011c0022 a0018c0023 a0001c0001 a0011c0022 a0018c0023	a0001c0001t0001 a0011c0022t0002 a0018c0023t0001 a0001c0001t0001 a0011c0022t0002 a0018c0023t0001	a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0066 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0130 a0011c0022t0002g0067 a0018c0023t0001g0313	10	420	0.0238	45	c.235 others(62): Show c.235-1664_235-1663insACTGTGCCTGTGTGTGCGTGAGTGCATG TGTGTCAGTGTGTGTGT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A11_chr3_10811228_10945714	10873384	T T	TTTATCCT others(38): Show TTTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp2 HG02486.hp1 others(2): Show HG01099.hp1 HG02109.hp2 HG02486.hp1 HG02896.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0020 a0001c0002 a0001c0016 a0001c0020	a0001c0002t0002 a0001c0016t0010 a0001c0020t0023 a0001c0002t0002 a0001c0016t0010 a0001c0020t0023	a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0016t0010g0056 others(2): Show a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0016t0010g0056 a0001c0016t0010g0248 a0001c0020t0023g0054	5	362	0.0138	45	c.757 others(62): Show c.757-1577_757-1576insTTATCCTATCCTATCCTATCCTATCCTA TCCTATCCTATCCTATC	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13			chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873404	C C	CCTATCCT others(38): Show CCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG04199.hp1 HG01168.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0002 a0001c0003t0001 a0001c0005t0002	a0001c0003t0001g0266 a0001c0005t0002g0321 a0001c0003t0001g0266 a0001c0005t0002g0321	2	362	0.0055	45	c.757 others(62): Show c.757-1513_757-1512insGCTATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873409	C C	CCTATCCT others(38): Show CCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0353 a0001c0010t0001g0353	1	362	0.0028	45	c.757 others(62): Show c.757-1551_757-1507dupCTATCCTATCCTATCCTATCCTATCCTA TCCTATCCTATCCTATG	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873548	T T	TCCTATGG others(38): Show TCCTATGGCATGCTATCCTATCCTACCCTACCCTACCCTACCCTAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0266 a0001c0003t0001g0266	1	362	0.0028	45	c.757 others(62): Show c.757-1409_757-1408insTGGCATGCTATCCTATCCTACCCTACCC TACCCTACCCTACCCTA	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873627	A A	ATCCTATC others(38): Show ATCCTATCCTATCCTATCCTATGCCATGCTATCCTATCCTATCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp2 NA18522.hp1 HG02109.hp2 HG02896.hp2 NA18522.hp1	a0001 a0001	a0001c0016 a0001c0019 a0001c0016 a0001c0019	a0001c0016t0010 a0001c0019t0002 a0001c0016t0010 a0001c0019t0002	a0001c0016t0010g0056 a0001c0016t0010g0248 a0001c0019t0002g0058 a0001c0016t0010g0056 a0001c0016t0010g0248 a0001c0019t0002g0058	3	362	0.0083	45	c.757 others(62): Show c.757-1330_757-1329insATCCTATCCTATCCTATGCCATGCTATC CTATCCTATCCTGTCCT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873627	A A	ATCCTATC others(38): Show ATCCTATCCTATCCTATCCTATGCCATGCTATCCTATTCTATCCTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02615.hp2 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0024 a0001c0005 a0001c0024	a0001c0005t0002 a0001c0024t0005 a0001c0005t0002 a0001c0024t0005	a0001c0005t0002g0203 a0001c0024t0005g0045 a0001c0005t0002g0203 a0001c0024t0005g0045	2	362	0.0055	45	c.757 others(62): Show c.757-1330_757-1329insATCCTATCCTATCCTATGCCATGCTATC CTATTCTATCCTGTCCT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A9_chr1_43991483_44036462	44036286	C C	CCAAAAAC others(38): Show CCAAAAACCAAAAAAACAGAAAACCATTACCACATAATTTTTCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	388	0.0026	45	c.-50 others(56): Show c.-5067_-5066insTAGGAAAAATTATGTGGTAATGGTTTTCTGTTTT TTTGGTTTTTG	SLC6A9	ENSG00000196517.13	transcript	ENST00000372310.8	protein_coding		4825		chr1	TogoVar
SLC8A3_chr14_70039215_70193951	70192015	T T	TATTAATA others(38): Show TATTAATAATAATTAATAATAATAATAATTATTATTATTAATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0133 a0001c0001t0055g0133	1	296	0.0034	45	c.-37 others(56): Show c.-3700_-3699insTATTATTAATAATAATAATTATTATTATTATTAA TTATTATTAAT	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3065		chr14	TogoVar
SLC9A3_chr5_465456_529449	497895	T T	TGGGGTCG others(38): Show TGGGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCCGGGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	218	0.0046	45	c.212 others(62): Show c.212-5825_212-5824insCACCCGGGACAGGGGCAGAGGCTGGGGA TGCGGCCGGGCGACCCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143449186	A A	ATTATATA others(38): Show ATTATATAAAATATAATTATATTATATAATTATATAAAATATAATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	108	0.0093	45	c.146 others(66): Show c.1469+17850_1469+17851insAATTATATTTTATATAATTATATA ATATAATTATATTTTATATAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLCO1B1_chr12_21126194_21244796	21244546	T T	TTCAAAAG others(38): Show TTCAAAAGAAAAAAATAAAAAATAAAATAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0029 a0004c0006t0001g0029	1	318	0.0031	45	c.53 others(56): Show c.5357_*5358insTCAAAAGAAAAAAATAAAAAATAAAATAAAAAAA AAAAAAAAAAA	SLCO1B1	ENSG00000134538.3	transcript	ENST00000256958.3	protein_coding		4751		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	92022862	A A	ACTGGGAA others(38): Show ACTGGGAAGCCTGCAGTGCTACCTGCAGTCAGGGAGTCGTGGGATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02895.hp1 others(2): Show HG02559.hp2 HG02622.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0008 a0001c0001t0029 a0001c0002t0014 others(1): Show a0001c0001t0008 a0001c0001t0029 a0001c0002t0014 a0001c0011t0047	a0001c0001t0008g0107 a0001c0001t0029g0131 a0001c0002t0014g0162 others(2): Show a0001c0001t0008g0107 a0001c0001t0029g0131 a0001c0002t0014g0162 a0001c0002t0014g0164 a0001c0011t0047g0029	5	190	0.0263	45	c.647 others(64): Show c.647-71968_647-71924dupAAGCCTGCAGTGCTACCTGCAGTCAG GGAGTCGTGGGATTCTGGG	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047447	A A	ATATAATA others(38): Show ATATAATATATAAATATATATACAAATATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	190	0.0053	45	c.647 others(64): Show c.647-47434_647-47433insTATAATATATAAATATATATACAAAT ATATATATAATATATAAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666115	C C	CCCCGCCC others(38): Show CCCCGCCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	432	0.0023	45	c.127 others(62): Show c.1277-263_1277-262insCGCCCCCCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLITRK5_chr13_87666371_87684616	87679818	G G	GTATATAG others(38): Show GTATATAGTATATATAGTATATAGTATATATATAGTATATAGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG02976.hp2 HG03098.hp2	a0001 a0006 a0001 a0006	a0001c0014 a0006c0021 a0001c0014 a0006c0021	a0001c0014t0003 a0006c0021t0008 a0001c0014t0003 a0006c0021t0008	a0001c0014t0003g0027 a0006c0021t0008g0027 a0001c0014t0003g0027 a0006c0021t0008g0027	2	404	0.0050	45	c.15 others(56): Show c.1553_*1554insTATATAGTATATATAGTATATAGTATATATATAG TATATAGTATA	SLITRK5	ENSG00000165300.8	transcript	ENST00000683689.1	protein_coding		203		chr13	TogoVar
SLPI_chr20_45247239_45259564	45258282	A A	ATAGATAG others(38): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02145.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0006 a0001c0001t0001g0015	2	398	0.0050	45	c.-37 others(56): Show c.-3740_-3739insATCTATCTATCTATCTATCTATCTATCTATCTAT CTATCTATCTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3719		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19065.hp2 HG01943.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0323 a0001c0001t0002g0311 a0001c0001t0002g0323	2	386	0.0052	45	c.299 others(64): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	386	0.0026	45	c.299 others(64): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(38): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	380	0.0026	45	c.17 others(56): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM36_chr17_55444856_55516452	55501183	A A	ATATAATA others(38): Show ATATAATATATCTTATATATTATAATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	340	0.0029	45	c.17 others(64): Show c.174+9651_*174+9695dupATATATAATATATATTATATATTATA ATATATAAGATATATTATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	45	c.16 others(56): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT TTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMOC2_chr6_168436184_168672992	168589730	G G	GGCCTGGT others(38): Show GGCCTGGTGTTGGTCAGGTGTGGCATTAGTTTAGGGGGCAGCCCCA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18973.hp2 NA19085.hp1 NA18950.hp1 NA18973.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112	3	180	0.0167	45	c.638 others(62): Show c.638-9080_638-9079insTTGGTCAGGTGTGGCATTAGTTTAGGGG GCAGCCCCAGCCTGGTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168607779	C C	CCTCCATC others(38): Show CCTCCATCCAACCCTGCAACGGGAGGAGGGGGAGGTGTGGGCACTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0042 a0001c0008t0002g0042	1	180	0.0056	45	c.825 others(60): Show c.825-337_825-336insACTGCTCCATCCAACCCTGCAACGGGAGGA GGGGGAGGTGTGGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168607779	C C	CCTCCATC others(38): Show CCTCCATCCAACCCTGCAACGGGAGGAGGGGGAGGTGTGGGCGCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp2 others(87): Show HG00099.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02602.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19012.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0002c0012 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0004t0005 a0001c0005t0001 a0001c0013t0002 a0002c0012t0010 a0005c0010t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 others(87): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0149 a0001c0001t0003g0171 a0001c0001t0004g0122 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0066 a0001c0002t0005g0069 a0001c0002t0007g0016 a0001c0002t0007g0053 a0001c0003t0001g0155 a0001c0004t0005g0048 a0001c0005t0001g0126 a0001c0013t0002g0033 a0002c0012t0010g0076 a0005c0010t0001g0130	90	180	0.5000	45	c.825 others(60): Show c.825-337_825-293dupCGCTGCTCCATCCAACCCTGCAACGGGAGG AGGGGGAGGTGTGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168607779	C C	CCTCCATC others(38): Show CCTCCATCCAACCCTGCAACGGGAGGAGGGGGAGGTGTGGGTGCTG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	180	0.0056	45	c.825 others(60): Show c.825-338_825-337insTGCTGCTCCATCCAACCCTGCAACGGGAGG AGGGGGAGGTGTGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168607844	G G	GGGAGGAG others(38): Show GGGAGGAGGGGGAGGTGTGAGCGCTGCTCCATCCAACCCTGCAACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	45	c.825 others(60): Show c.825-295_825-294insAGCGCTGCTCCATCCAACCCTGCAACAGGA GGAGGGGGAGGTGTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNAP23_chr15_42490634_42538058	42525451	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0237 a0001c0002t0003g0237	1	308	0.0033	45	c.267 others(62): Show c.267-2781_267-2780insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNIP1_chr1_37529449_37559293	37535240	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0180 a0001c0001t0058g0180	1	394	0.0025	45	c.25 others(56): Show c.2507_*2508insATATATATATATATATATATATATATATATATAT ATATATATATA	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2507		chr1	TogoVar
SNTG1_chr8_49906407_50801692	50701579	T T	TTTCTTCT others(38): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0044 a0001c0005t0019g0044	1	106	0.0094	45	c.103 others(64): Show c.1039-3015_1039-3014insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1221697	T T	TAGCTCTG others(38): Show TAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	190	0.0053	45	c.719 others(64): Show c.719+12467_719+12468insAGCTCTGCCTCTGTTAGTCCCTCTCT GTCTCTCCCTGTCTCTGTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX10_chr7_26286862_26379383	26291922	T T	TGCGCGGG others(38): Show TGCGCGGGGAGCGCGGGGAGCGCGGGGAGCGCGGGGAGCGCGGGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 NA18945.hp2 NA19054.hp2 HG00544.hp1 NA18945.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0020g0239 a0001c0001t0021g0049 a0001c0001t0022g0033 a0001c0001t0020g0239 a0001c0001t0021g0049 a0001c0001t0022g0033	3	390	0.0077	45	c.-15 others(54): Show c.-153_-152insAGCGCGGGGAGCGCGGGGAGCGCGGGGAGCGCGGGG AGCGCGGGG	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/7	54485	INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX25_chr4_185204598_185368966	185241511	A A	AGAGGGAG others(38): Show AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01975.hp2 HG02109.hp1 others(9): Show HG01192.hp1 HG01975.hp2 HG02109.hp1 HG02630.hp2 HG03041.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG04115.hp2 NA18522.hp1 NA19043.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0019 a0001c0001 a0003c0004 a0006c0019	a0001c0001t0001 a0003c0004t0001 a0006c0019t0005 a0001c0001t0001 a0003c0004t0001 a0006c0019t0005	a0001c0001t0001g0107 a0001c0001t0001g0191 a0001c0001t0001g0192 others(9): Show a0001c0001t0001g0107 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0230 a0001c0001t0001g0231 a0003c0004t0001g0209 a0006c0019t0005g0267	12	276	0.0435	45	c.430 others(62): Show c.430-5748_430-5704dupGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGG	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(38): Show AAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0270 a0001c0003t0003g0270	1	302	0.0033	45	c.949 others(62): Show c.949+5616_949+5617insAAAAAAATATATATATATATATATATAT ATATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7724129	G G	GGTGGTGG others(38): Show GGTGGTGGTGATGGTGGTGATAGTGGTGGTGATGGTGGTGGTGATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0028 a0001c0028t0028	a0001c0028t0028g0152 a0001c0028t0028g0152	1	168	0.0060	45	c.261 others(62): Show c.2611+255_2611+256insATGGTGGTGATAGTGGTGGTGATGGTGG TGGTGATAGTGGTGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104840781	C C	CCTGAAGG others(38): Show CCTGAAGGCTTGATGTTGGGGAAAAATGATTTTGGAGGCATGTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00609.hp1 others(117): Show HG00140.hp1 HG00140.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18970.hp1 NA18970.hp2 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp1 NA19079.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0015 a0001c0018 a0002c0004 a0002c0013 a0003c0008 a0004c0009 a0005c0007 a0006c0010 a0006c0011 a0007c0021 a0008c0020 a0009c0019 a0010c0016 a0011c0017 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0006t0001 a0001c0015t0002 a0001c0018t0002 a0002c0004t0001 a0002c0013t0002 a0003c0008t0001 a0004c0009t0002 a0005c0007t0001 a0006c0010t0001 a0006c0011t0001 a0007c0021t0001 a0008c0020t0001 a0009c0019t0002 a0010c0016t0004 a0011c0017t0003 a0013c0012t0001	a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0027 others(117): Show a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0079 a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0048 a0001c0001t0004g0067 a0001c0001t0004g0094 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0001t0004g0125 a0001c0001t0009g0080 a0001c0001t0010g0127 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0114 a0001c0002t0001g0134 a0001c0002t0002g0053 a0001c0002t0002g0108 a0001c0002t0002g0129 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0070 a0001c0002t0003g0118 a0001c0002t0003g0128 a0001c0002t0005g0074 a0001c0002t0007g0078 a0001c0002t0011g0020 a0001c0003t0002g0010 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0005t0001g0007 a0001c0005t0001g0081 a0001c0005t0001g0092 a0001c0006t0001g0077 a0001c0015t0002g0130 a0001c0018t0002g0064 a0002c0004t0001g0002 a0002c0004t0001g0132 a0002c0013t0002g0131 a0003c0008t0001g0005 a0003c0008t0001g0126 a0004c0009t0002g0096 a0004c0009t0002g0097 a0005c0007t0001g0061 a0005c0007t0001g0062 a0006c0010t0001g0068 a0006c0011t0001g0069 a0007c0021t0001g0117 a0008c0020t0001g0024 a0009c0019t0002g0109 a0010c0016t0004g0059 a0011c0017t0003g0088 a0013c0012t0001g0003	120	134	0.8955	45	c.628 others(62): Show c.628-1985_628-1941dupTGATTTTGGAGGCATGTCCTCTGAAGGC TTGATGTTGGGGAAAAA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104840838	A A	ATGTTGGG others(38): Show ATGTTGGGGAAAAATGATTTTGGAGGCATGTCCTCTGAAGGCTTGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	134	0.0075	45	c.628 others(62): Show c.628-1941_628-1940insTGATTTTGGAGGCATGTCCTCTGAAGGC TTGTTGTTGGGGAAAAA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOWAHC_chr2_109609364_109623990	109610095	G G	GTTTTTTT others(38): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	432	0.0023	45	c.-43 others(56): Show c.-4395_-4394insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding		4268		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706319	G G	GGTAGGCT others(38): Show GGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0000 a0001c0001t0089g0000	1	434	0.0023	45	c.12 others(58): Show c.12272_*12273insGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGG GTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4935		chr2	TogoVar
SP100_chr2_230411201_230550606	230497539	G G	GAGGAAAG others(38): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0182 a0001c0003t0003g0182	1	290	0.0035	45	c.164 others(62): Show c.1646-918_1646-917insAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAGAG others(38): Show GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0004 a0006c0016t0004	a0006c0016t0004g0281 a0006c0016t0004g0281	1	290	0.0035	45	c.164 others(62): Show c.1646-913_1646-912insGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA5_chrX_48001988_48014733	48013051	T T	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	292	0.0034	45	c.34 others(56): Show c.3406_*3407insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC TTTCTTCCTTC	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3319		chrX	TogoVar
SPAG16_chr2_213279464_214415501	213833479	A A	ATATATTA others(38): Show ATATATTATATATATATATTATATATAATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0019 a0003c0003t0003g0019	1	86	0.0116	45	c.107 others(66): Show c.1071-29001_1071-29000insTATATATATATATTATATATAATA TATATTATATATATATTATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA3_chr2_230991121_231013040	230994146	C C	CTCTCTGA others(38): Show CTCTCTGATTCTAAATGGAGTCCCCTCAAGGGTTCCATTGCTCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0001 a0004c0004t0002g0001	1	436	0.0023	45	c.-20 others(56): Show c.-2088_-2087insTCTCTGATTCTAAATGGAGTCCCCTCAAGGGTTC CATTGCTCTTG	SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding		1974		chr2	TogoVar
SPHK2_chr19_48614506_48635405	48616643	C C	CCAGCACA others(38): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	398	0.0025	45	c.-30 others(56): Show c.-3014_-3013insCAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCACAGCA	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPICE1_chr3_113437718_113520156	113480931	A A	AGAAAGAA others(38): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01358.hp1 HG01516.hp2 others(15): Show HG00621.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp2 HG02056.hp2 HG02135.hp1 HG02148.hp1 HG02647.hp1 HG02895.hp2 HG03471.hp2 HG03492.hp1 NA18612.hp2 NA18999.hp1 NA19010.hp1 NA19043.hp2 NA19055.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0025 a0001c0002t0003 a0001c0002t0007 a0001c0002t0025	a0001c0002t0003g0245 a0001c0002t0003g0251 a0001c0002t0003g0272 others(15): Show a0001c0002t0003g0245 a0001c0002t0003g0251 a0001c0002t0003g0272 a0001c0002t0003g0274 a0001c0002t0003g0278 a0001c0002t0003g0280 a0001c0002t0003g0284 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0307 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0007g0259 a0001c0002t0007g0262 a0001c0002t0025g0263	18	364	0.0495	45	c.611 others(62): Show c.611+8013_611+8014insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47458323	G G	GTATTTTA others(38): Show GTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	216	0.0046	45	c.109 others(66): Show c.1097+17806_1097+17850dupTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar

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