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
SPRED2_chr2_65305851_65437599	65437193	ACATCCCC others(10): Show ACATCCCCTCTCCCCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	276	0.0036	-17	c.-52 others(28): Show c.-5223_-5207delAGAGGGGAGAGGGGATG	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding		4595		chr2	TogoVar
SPRING1_chr12_116705171_116743069	116715943	CTGTTCAC others(10): Show CTGTTCACATTAAATCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0081 a0001c0001t0046g0081	1	362	0.0028	-17	c.18 others(28): Show c.1850_*1866delTAGATTTAATGTGAACA	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	5/5	1850		chr12	TogoVar
SPRYD3_chr12_53059316_53084390	53069828	GCCCACCC others(10): Show GCCCACCCTCTCCACCCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01074.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	404	0.0050	-17	c.694 others(34): Show c.694-1541_694-1525delTGGGTGGAGAGGGTGGG	SPRYD3	ENSG00000167778.9	transcript	ENST00000301463.9	protein_coding	6/10			chr12	TogoVar
SPSB1_chr1_9287894_9374532	9298279	GAATAATT others(10): Show GAATAATTAAAACAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0254 a0001c0003t0008g0254	1	370	0.0027	-17	c.-15 others(36): Show c.-150+5227_-150+5243delATAATTAAAACAGAAAA	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141050515	CTCTGCAT others(10): Show CTCTGCATCTAGACTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0018 a0001c0001t0028g0018	1	254	0.0039	-17	c.-16 others(28): Show c.-1630_-1614delTCTGCATCTAGACTCTG	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding		831		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141082422	GGGTGGGT others(10): Show GGGTGGGTTCATTGCTTA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG02809.hp1 others(8): Show HG00735.hp2 HG02145.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp2 HG03516.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0017 a0001c0001t0025 others(4): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0025 a0001c0001t0040 a0001c0001t0051 a0001c0002t0003 a0001c0002t0029	a0001c0001t0006g0158 a0001c0001t0017g0157 a0001c0001t0017g0169 others(8): Show a0001c0001t0006g0158 a0001c0001t0017g0157 a0001c0001t0017g0169 a0001c0001t0025g0144 a0001c0001t0025g0146 a0001c0001t0040g0170 a0001c0001t0051g0233 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0029g0042 a0001c0002t0029g0043	11	254	0.0433	-17	c.694 others(36): Show c.694+15628_694+15644delGGGTTCATTGCTTAGGT	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTAN1_chr9_128547587_128638662	128570322	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	312	0.0032	-17	c.363 others(34): Show c.363+1427_363+1443delATATATATTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19084.hp1 NA19085.hp2 HG04204.hp1 NA19084.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0006 a0001c0015 a0002c0006	a0001c0015t0002 a0002c0006t0003 a0001c0015t0002 a0002c0006t0003	a0001c0015t0002g0212 a0001c0015t0002g0220 a0002c0006t0003g0200 a0001c0015t0002g0212 a0001c0015t0002g0220 a0002c0006t0003g0200	3	370	0.0081	-17	c.-48 others(36): Show c.-48+10073_-48+10089delAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64797467	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0181 a0002c0006t0011g0181	1	268	0.0037	-17	c.118 others(34): Show c.1182+245_1182+261delTTTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	10/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92091090	ATCTCTAA others(10): Show ATCTCTAACAATGCTACC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02895.hp1 others(1): Show HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0005g0065 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0005g0065 a0001c0001t0005g0067	4	358	0.0112	-17	c.261 others(36): Show c.261-10144_261-10128delGGTAGCATTGTTAGAGA	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	3/14			chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77567161	AAGGTTTC others(10): Show AAGGTTTCATCCTGTTAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	246	0.0041	-17	c.756 others(34): Show c.756+3206_756+3222delCTAACAGGATGAAACCT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77588996	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18995.hp1 NA19010.hp1 NA18953.hp1 NA18995.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0097 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0001g0097 a0001c0001t0009g0085 a0001c0001t0009g0086	3	246	0.0122	-17	c.327 others(34): Show c.327+8173_327+8189delTTTTTTTTTTTTTTTTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443199	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG03209.hp1 others(1): Show HG02280.hp1 HG02965.hp2 HG03209.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0014 a0001c0002t0007g0015 a0001c0002t0007g0016 others(1): Show a0001c0002t0007g0014 a0001c0002t0007g0015 a0001c0002t0007g0016 a0001c0002t0007g0017	4	344	0.0116	-17	c.113 others(34): Show c.113-7912_113-7896delACACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA others(10): Show CAAACAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01361.hp1 others(1): Show HG00140.hp2 HG01192.hp1 HG01361.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0163 a0001c0001t0001g0176	4	358	0.0112	-17	c.205 others(36): Show c.2050-1629_2050-1613delTTTTTTTTTTTTTGTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45586983	AAATTATT others(10): Show AAATTATTTTAAATATTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01069.hp2 others(32): Show HG00140.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0002c0016 others(2): Show a0001c0001 a0002c0002 a0002c0016 a0003c0003 a0009c0011	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0005 a0002c0016t0001 a0003c0003t0001 a0009c0011t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0188 others(32): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0179 a0002c0002t0001g0239 a0002c0002t0005g0022 a0002c0016t0001g0024 a0003c0003t0001g0122 a0009c0011t0001g0117	35	358	0.0978	-17	c.649 others(34): Show c.649-1226_649-1210delAAATATTTAAAATAATT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38588541	GGCCGGTG others(10): Show GGCCGGTGCCTGTCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02258.hp1 others(8): Show HG01884.hp2 HG02055.hp1 HG02258.hp1 HG02572.hp1 HG02818.hp1 HG03195.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0004 a0001c0001 a0001c0017 a0002c0004	a0001c0001t0014 a0001c0017t0001 a0002c0004t0005 others(2): Show a0001c0001t0014 a0001c0017t0001 a0002c0004t0005 a0002c0004t0022 a0002c0004t0023	a0001c0001t0014g0074 a0001c0001t0014g0079 a0001c0017t0001g0081 others(8): Show a0001c0001t0014g0074 a0001c0001t0014g0079 a0001c0017t0001g0081 a0002c0004t0005g0152 a0002c0004t0005g0153 a0002c0004t0005g0158 a0002c0004t0005g0159 a0002c0004t0005g0160 a0002c0004t0005g0161 a0002c0004t0022g0151 a0002c0004t0023g0117	11	261	0.0422	-17	c.23- others(32): Show c.23-9767_23-9751delTGAGGACAGGCACCGGC	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	1/18			chr17	TogoVar
SRCIN1_chr17_38525031_38610952	38605988	GGCGGGCG others(10): Show GGCGGGCGCGCGCGCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0156 a0001c0002t0017g0156	1	261	0.0038	-17	c.-30 others(26): Show c.-300_-284delGCCGCGCGCGCGCCCGC	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding		37		chr17	TogoVar
SRD5A3_chr4_55341242_55378100	55363875	CCAGTGAA others(10): Show CCAGTGAACTGTGTAACA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02818.hp2 others(7): Show HG02280.hp1 HG02572.hp2 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03209.hp1 HG03579.hp1 NA18906.hp1 NA19043.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0027 a0001c0001t0039 a0001c0001t0049 a0005c0005t0040	a0001c0001t0004g0061 a0001c0001t0005g0070 a0001c0001t0015g0009 others(6): Show a0001c0001t0004g0061 a0001c0001t0005g0070 a0001c0001t0015g0009 a0001c0001t0015g0219 a0001c0001t0027g0009 a0001c0001t0027g0067 a0001c0001t0039g0068 a0001c0001t0049g0009 a0005c0005t0040g0069	10	384	0.0260	-17	c.365 others(32): Show c.365-183_365-167delCACAGTGAACTGTGTAA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SREBF2_chr22_41828105_41912305	41852728	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG02886.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0052 a0002c0002t0003g0053	2	336	0.0060	-17	c.89- others(34): Show c.89-14088_89-14072delTTTTTTTTTTTTTTTTT	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1IP1_chr5_64713148_64773691	64772624	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0052 a0001c0003t0005g0052	1	342	0.0029	-17	c.-41 others(28): Show c.-4124_-4108delTTTTTTTTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding		3934		chr5	TogoVar
SREK1_chr5_66139300_66188615	66171879	CAGGCCTG others(10): Show CAGGCCTGGGAGAAGATT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0058 a0001c0001t0030g0058	1	386	0.0026	-17	c.148 others(34): Show c.1484+934_1484+950delGGCCTGGGAGAAGATTA	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SREK1_chr5_66139300_66188615	66184223	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0201 a0001c0001t0020g0201	1	386	0.0026	-17	c.53 others(28): Show c.5356_*5372delTTTTTTTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding		609		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63868076	TTTGTTTT others(10): Show TTTGTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03540.hp2 HG06807.hp1 others(2): Show HG01978.hp2 HG03540.hp2 HG06807.hp1 NA18951.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0108 a0001c0001t0110 others(2): Show a0001c0001t0007 a0001c0001t0108 a0001c0001t0110 a0001c0001t0128 a0001c0002t0064	a0001c0001t0007g0039 a0001c0001t0108g0001 a0001c0001t0110g0030 others(2): Show a0001c0001t0007g0039 a0001c0001t0108g0001 a0001c0001t0110g0030 a0001c0001t0128g0031 a0001c0002t0064g0049	5	170	0.0294	-17	c.67+ others(34): Show c.67+23196_67+23212delGTTTTTTTTTTTTTGTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63948838	CATATATA others(10): Show CATATATATATTTTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0126 a0001c0002t0065g0126	1	170	0.0059	-17	c.68- others(34): Show c.68-35097_68-35081delTTCCATATATATATATT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63949155	ATTTTCCA others(10): Show ATTTTCCATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01891.hp1 HG02300.hp2 HG00099.hp2 HG01891.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0087 a0001c0002t0031 a0001c0002t0048 a0001c0001t0087 a0001c0002t0031 a0001c0002t0048	a0001c0001t0087g0141 a0001c0002t0031g0063 a0001c0002t0048g0120 a0001c0001t0087g0141 a0001c0002t0031g0063 a0001c0002t0048g0120	3	170	0.0177	-17	c.68- others(34): Show c.68-34777_68-34761delATTTTTTCCATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883561	GGGGCAAA others(10): Show GGGGCAAAAAGCCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	56	0.0179	-17	c.85 others(28): Show c.8582_*8598delGCCCCGGCTTTTTGCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3726		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883865	GGGGGAAG others(10): Show GGGGGAAGCCGCGGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	56	0.0179	-17	c.82 others(28): Show c.8278_*8294delGCCGCCGCGGCTTCCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3422		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145030706	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0018 a0008c0007t0018	a0008c0007t0018g0001 a0008c0007t0018g0001	1	56	0.0179	-17	c.68- others(34): Show c.68-35523_68-35507delATTTTTTTTTTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145069231	CTGAAGAG others(10): Show CTGAAGAGTCTTTCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	56	0.0179	-17	c.67+ others(34): Show c.67+23587_67+23603delACCTGAAAGACTCTTCA	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249564	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0001 a0003c0004t0018g0002 a0003c0004t0018g0001 a0003c0004t0018g0002	2	274	0.0073	-17	c.68- others(34): Show c.68-35237_68-35221delATATATATATATATATT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249568	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0054 a0001c0005t0054	a0001c0005t0054g0270 a0001c0005t0054g0270	1	274	0.0037	-17	c.68- others(34): Show c.68-35233_68-35217delATATATATATATTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396102	CCCCCGCC others(10): Show CCCCCGCCGCTTTTTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(147): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18949.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18981.hp1 NA18983.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0009	a0001c0001 a0001c0008 a0002c0002 others(4): Show a0001c0001 a0001c0008 a0002c0002 a0004c0009 a0006c0011 a0007c0007 a0009c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(31): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0008t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0017 a0002c0002t0020 a0002c0002t0021 a0002c0002t0028 a0002c0002t0037 a0004c0009t0003 a0006c0011t0026 a0007c0007t0052 a0009c0013t0007	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 others(147): Show a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0274 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0226 a0001c0001t0007g0159 a0001c0001t0007g0174 a0001c0001t0007g0175 a0001c0001t0007g0203 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0251 a0001c0001t0011g0235 a0001c0001t0011g0241 a0001c0001t0013g0116 a0001c0001t0013g0196 a0001c0001t0014g0218 a0001c0001t0014g0220 a0001c0001t0015g0142 a0001c0001t0015g0197 a0001c0001t0016g0166 a0001c0001t0016g0185 a0001c0001t0038g0221 a0001c0001t0039g0210 a0001c0001t0040g0186 a0001c0001t0041g0173 a0001c0001t0042g0228 a0001c0001t0043g0132 a0001c0001t0044g0119 a0001c0001t0045g0217 a0001c0001t0046g0121 a0001c0001t0047g0181 a0001c0001t0049g0145 a0001c0001t0050g0172 a0001c0008t0001g0122 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0026 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0065 a0002c0002t0002g0088 a0002c0002t0002g0103 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0092 a0002c0002t0009g0254 a0002c0002t0009g0255 a0002c0002t0009g0257 a0002c0002t0017g0031 a0002c0002t0020g0083 a0002c0002t0021g0053 a0002c0002t0028g0023 a0002c0002t0037g0253 a0004c0009t0003g0066 a0006c0011t0026g0003 a0007c0007t0052g0273 a0009c0013t0007g0246	150	274	0.5475	-17	c.82 others(28): Show c.8248_*8264delCCCCGCCGCTTTTTGCA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3229		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396136	ACCCCGCC others(10): Show ACCCCGCCGCTTTTTGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02451.hp1 HG02622.hp1 others(6): Show HG01175.hp1 HG02451.hp1 HG02622.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03516.hp2 HG04115.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0031 a0002c0002t0002 a0002c0002t0031	a0002c0002t0002g0021 a0002c0002t0002g0093 a0002c0002t0002g0094 others(6): Show a0002c0002t0002g0021 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0031g0100	9	274	0.0329	-17	c.82 others(28): Show c.8282_*8298delCCCCGCCGCTTTTTGCC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3263		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396369	GCCGCCGC others(10): Show GCCGCCGCGGCTTTTTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA18991.hp1 HG03669.hp2 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0150 a0002c0002t0002g0063 a0001c0001t0001g0150 a0002c0002t0002g0063	2	274	0.0073	-17	c.85 others(28): Show c.8515_*8531delCCGCCGCGGCTTTTTGC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3496		chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372955	CTTTTCTT others(10): Show CTTTTCTTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	182	0.0055	-17	c.424 others(36): Show c.424-11058_424-11042delTTTTCTTTCCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22			chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372956	TTTTCTTT others(10): Show TTTTCTTTCCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0011 a0001c0001 a0001c0013 a0004c0011	a0001c0001t0001 a0001c0013t0016 a0004c0011t0001 a0001c0001t0001 a0001c0013t0016 a0004c0011t0001	a0001c0001t0001g0094 a0001c0013t0016g0121 a0004c0011t0001g0101 a0001c0001t0001g0094 a0001c0013t0016g0121 a0004c0011t0001g0101	3	182	0.0165	-17	c.424 others(36): Show c.424-11049_424-11033delCTTTCTTTCTTTCTTTC	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP54_chr14_34977992_35034567	34998996	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	396	0.0025	-17	c.79- others(30): Show c.79-559_79-543delGTGTGTGTGTGTGTGGT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP72_chr4_56462617_56508681	56467806	GGCGCGCG others(10): Show GGCGCGCGAGACCACCTC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0291 a0001c0001t0006g0292 a0001c0001t0006g0291 a0001c0001t0006g0292	2	388	0.0052	-17	c.109 others(30): Show c.109+68_109+84delCGAGACCACCTCGCGCG	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP9_chr1_225772826_225795464	225784229	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	474	0.0021	-17	c.141 others(32): Show c.141+880_141+896delTTTTTTTTTTTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35915992	ATATATAC others(10): Show ATATATACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	342	0.0029	-17	c.74+ others(32): Show c.74+4459_74+4475delGTGTGTGTGTGTATATA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105280947	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	282	0.0036	-17	c.72- others(34): Show c.72-77179_72-77163delTTTTTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105327240	TGGAATAT others(10): Show TGGAATATTTCATGACAC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	282	0.0036	-17	c.71+ others(34): Show c.71+61391_71+61407delGTGTCATGAAATATTCC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRRM3_chr7_76196896_76292287	76283375	GGGGAGGG others(10): Show GGGGAGGGGGCTCTGTAC	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0314 a0002c0002t0003g0314	1	324	0.0031	-17	c.173 others(34): Show c.1733+275_1733+291delGGGAGGGGGCTCTGTAC	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	14/14			chr7	TogoVar
SRRM3_chr7_76196896_76292287	76287140	TTGGCCCA others(10): Show TTGGCCCAACCAGGCAGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0220 a0001c0001t0006g0220	1	324	0.0031	-17	c.13 others(28): Show c.1300_*1316delGCCCAACCAGGCAGATG	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	15/15	1300	INFO_REALIGN_3_PRIME	chr7	TogoVar
SRSF11_chr1_70216380_70258052	70243336	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02717.hp1 others(6): Show HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02895.hp2 HG03130.hp2 HG03579.hp2 NA19000.hp2 NA19086.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0087 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0001g0207 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0005g0045 a0001c0001t0005g0046	9	338	0.0266	-17	c.801 others(34): Show c.801-1327_801-1311delAAAAAAAAAAAAAAAAA	SRSF11	ENSG00000116754.14	transcript	ENST00000370949.2	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRSF4_chr1_29142743_29186900	29174655	AGAGACTG others(10): Show AGAGACTGTGCAGGAGAT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	368	0.0027	-17	c.107 others(34): Show c.107+6974_107+6990delATCTCCTGCACAGTCTC	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding	1/5			chr1	TogoVar
SRSF4_chr1_29142743_29186900	29184246	GCTCACTG others(10): Show GCTCACTGCAGTCTCTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01496.hp2 others(5): Show HG00738.hp2 HG01099.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0186 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0186 a0002c0002t0001g0194 a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0002t0001g0219 a0002c0002t0001g0239	8	368	0.0217	-17	c.-25 others(28): Show c.-2511_-2495delGCAGAGACTGCAGTGAG	SRSF4	ENSG00000116350.18	transcript	ENST00000373795.7	protein_coding		2347		chr1	TogoVar
SRSF7_chr2_38738599_38756361	38749772	AACTCTTT others(10): Show AACTCTTTCCAACCACTC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	426	0.0024	-17	c.210 others(30): Show c.210-84_210-68delGAGTGGTTGGAAAGAGT	SRSF7	ENSG00000115875.19	transcript	ENST00000313117.11	protein_coding	2/7			chr2	TogoVar
SRXN1_chr20_641615_658200	652904	GACCTCCC others(10): Show GACCTCCCTCCTCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp2 others(87): Show HG00099.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18993.hp2 NA18997.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19068.hp2 NA19079.hp2 NA19082.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0002t0014	a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0029 others(25): Show a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0003g0027 a0001c0001t0003g0058 a0001c0001t0004g0055 a0001c0001t0005g0001 a0001c0001t0010g0067 a0001c0002t0002g0152 a0001c0002t0014g0025	90	422	0.2133	-17	c.210 others(30): Show c.210+55_210+71delTGCCGGAGGAGGGAGGT	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding	1/1			chr20	TogoVar
SS18_chr18_26011253_26095613	26060771	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01069.hp2 others(71): Show HG00544.hp1 HG00609.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01257.hp2 HG01433.hp2 HG01516.hp2 HG01928.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18945.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18989.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0002t0006 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0004g0007 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0082 a0001c0001t0004g0085 a0001c0001t0004g0096 a0001c0001t0004g0305 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0015g0065 a0001c0002t0006g0088 a0001c0002t0006g0089 a0001c0002t0006g0090 a0001c0002t0006g0091 a0001c0002t0006g0092 a0001c0002t0006g0113 a0001c0008t0001g0045	74	318	0.2327	-17	c.232 others(34): Show c.232-3046_232-3030delTTTTTTTTTTTTTTTTT	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10			chr18	TogoVar

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