Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(401): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0184 a0018c0023t0001g0184	1	426	0.0024	408	c.22 others(419): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2085		chr13	TogoVar
RSAD1_chr17_50473860_50490974	50476102	C C	CCAGCGCG others(401): Show CCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGC AGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAG CGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCG CGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCG CCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCC TGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTG CCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCC CCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCC CTTACCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	2	382	0.0052	408	c.-27 others(419): Show c.-2783_-2782insCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCT GCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGC CCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCC CCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCC TTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTT ACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTAC CTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCT CGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCG CAGCGCGCCTGCCCCCTTACCTCG	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2757		chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693503	C C	CTCCACCA others(401): Show CTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCA CCTCCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCACC ACCTCCACCTCCACCACCTCCACCTTCACCACCACCACCTCCATCACCAC CACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCT CCACCACCACCTCCACCACCTCCACCTCCACCACCTCCACCTTCACCACC ACCACCTCCACCTTCACCACCACCACCACCACCTCCACCACCTCCACCTC CACCACCACCACCACCTCCACCTTCACCACCACCACCACCACCTCCACCA CCTCCACCACCACCTCTACCTCCACCTCCACCACCTCCACCACCACCTCC ACCACCTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0026 a0007c0008t0001g0026	1	60	0.0167	408	c.299 others(425): Show c.2992+220_2992+221insTCCACCACCTCCACCTCCACCACCTCCA CCTCCACCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCACCACC ACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCTTCAC CACCACCACCTCCATCACCACCACCTCCACCACCTCCACCTCCACCTCCA CCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCTCC ACCACCTCCACCTTCACCACCACCACCTCCACCTTCACCACCACCACCAC CACCTCCACCACCTCCACCTCCACCACCACCACCACCTCCACCTTCACCA CCACCACCACCACCTCCACCACCTCCACCACCACCTCTACCTCCACCTCC ACCACCTCCACCACCACCTCCACCACCTCT	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25808836	G G	GAGGCGGG others(401): Show GAGGCGGGCAGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACAC GGTGAAACCCCCGTCTCTACTAAAAAATAGAAAAAATTAGCTGGGCGTGG TGGCGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATC ACGAGGTCAGGAAATCGAGAACACCCTGGCTAACACGGTGAAACCCCTAT CTCTACTAAAAAATAGAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAAA TCGAGAACACCCTGGCTAACACGGTGAAACCCCTATCTCTACTAAAAAAT AGAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCACTTT GGGAGGCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0024 a0001c0010t0024	a0001c0010t0024g0309 a0001c0010t0024g0309	1	312	0.0032	408	c.156 others(427): Show c.1565-4085_1565-4084insTGGCCTCCCAAAGTGCTGGGACTACA GGCGCCCGCCACCACGCCCAGCTAATTTTTTCTATTTTTTAGTAGAGATA GGGGTTTCACCGTGTTAGCCAGGGTGTTCTCGATTTCCTGACCTCGTGAT CTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGCCCGCCACCA CGCCCAGCTAATTTTTTCTATTTTTTAGTAGAGATAGGGGTTTCACCGTG TTAGCCAGGGTGTTCTCGATTTCCTGACCTCGTGATCTGCCCGCCTTGGC CTCCCAAAGTGCTGGGATTACAGGCGCCCGCCACCACGCCCAGCTAATTT TTTCTATTTTTTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATTTCCTGACCTCGTGATCTGCCCGCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	9/23			chr4	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(401): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGA GCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	370	0.0027	408	c.-30 others(427): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCG CTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(401): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTG ATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGT GATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTG AAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGAT TGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTG TGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGG TGATGGTGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	150	0.0067	408	c.914 others(425): Show c.914-2368_914-2367insATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTG ATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGT GAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGAT GGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGAT TGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGG TGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGT GGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(401): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTG ATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGT GATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTG AAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGAT TGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTG TGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGG TGATGGTGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	158	0.0063	408	c.860 others(425): Show c.860-2368_860-2367insATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTG ATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGT GAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGAT GGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGAT TGTGATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGG TGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGT GGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3YL1_chr2_213144_269032	214433	C C	CCTGCCAA others(401): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCTTCTGCCAA CAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGG CACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCA CCGGGCTGCCCCTGCCAACAGACACCGGGCTGCTTCTGCCAACAGGCACC GGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	360	0.0028	408	c.43 others(419): Show c.4377_*4378insAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGT TGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTC GCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGC AGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAG GGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3710		chr2	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCCGCT others(401): Show GCCCCGCTCACACCCGCCCGCTCACCCGCCCGCTCACCCCCGGCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCACCCGGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGCCCCGCTCACACACCCGGCCCCGCTCACA CCCCGGCCCCCGCTCACACCCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCCGGCCCCCGCTCACACCCCGGCCCCCGCCTCA CACCCCGCCCCGCTCACACCCGCCCCCGCTCACACCCCGGCCCCGCTCAC ACCCCGCCCCGCTCACACCCCCCCGGCCCCCCCGCTCACCCCCGGCCCCG CTCACACCCGCCCCGCTCACACCCCGCCCCGCTCACACACCCGGCCCGCT CACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0037 a0007c0014t0001g0037	1	242	0.0041	408	c.43 others(419): Show c.4343_*4344insGCGGGTGTGAGCGGGCCGGGTGTGTGAGCGGGGC GGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGGGGC CGGGGGGGTGTGAGCGGGGCGGGGTGTGAGCGGGGCCGGGGTGTGAGCGG GGGCGGGTGTGAGCGGGGCGGGGTGTGAGGCGGGGGCCGGGGTGTGAGCG GGGGCCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGGTGTGAGCGGGGGCCGGGGTGTGAGCGGGGCCGGGTGTGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGCCGGGGGTGAGCGGGCGG GTGAGCGGGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SLC6A3_chr5_1387794_1450440	1422412	G G	GGTGCTGC others(401): Show GGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTAC CCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAG TGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCACGC TGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCC ACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTG CTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTG CTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCG CTGCCCACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00741.hp2 others(16): Show HG00280.hp2 HG00558.hp1 HG00741.hp2 HG01255.hp2 HG01257.hp2 HG01515.hp1 HG02155.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG03225.hp1 HG03579.hp1 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18978.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0003t0001 a0001c0003t0012 a0001c0004t0001 a0001c0004t0008 a0001c0007t0001 a0001c0007t0002 a0001c0010t0015	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0086 others(16): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0002g0292 a0001c0001t0006g0056 a0001c0002t0003g0083 a0001c0003t0001g0133 a0001c0003t0012g0134 a0001c0004t0001g0251 a0001c0004t0001g0254 a0001c0004t0001g0255 a0001c0004t0001g0296 a0001c0004t0008g0263 a0001c0007t0001g0141 a0001c0007t0002g0047 a0001c0010t0015g0258	19	373	0.0509	408	c.654 others(423): Show c.654-399_654-398insTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACC CAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCA GCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACCGTGGGCA GCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGC ACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGC GGTGGGCACCCAGCAGCGTGGGCAGCAC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422412	G G	GGTGCTGC others(401): Show GGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTAC CCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAG TGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCACGC TGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCC ACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTG CTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTG CTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCG CTGCCCACA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	373	0.0027	408	c.654 others(423): Show c.654-399_654-398insTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACC CAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCA GCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACCGTGGGCA GCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGC ACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGC GGTGGGCACCCAGCAGCATGGGCAGCAC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422441	G G	GCTGCCCA others(401): Show GCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGT GCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGC TGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGC TGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGC TGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTG GGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTG CCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCC CACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGG TGCCCACCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01981.hp1 HG02293.hp1 others(1): Show HG01975.hp1 HG01981.hp1 HG02293.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0002g0062 a0001c0001t0002g0097 others(1): Show a0001c0001t0001g0098 a0001c0001t0002g0062 a0001c0001t0002g0097 a0001c0001t0002g0222	4	373	0.0107	408	c.654 others(423): Show c.654-428_654-427insTGGTGGGCACCCAGCAGCGTGGGCAGCACT GTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGG GCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACC GTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGG GCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGC ACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGT GGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGC AGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGCAC CCAGCAGCGTGGGCAGCACTGTGGGCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422441	G G	GCTGCCCA others(401): Show GCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGT GCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGC TGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGC TGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGC TGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTG GGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTG CCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCC CACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGG TGCCCACCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(85): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18956.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0028 a0001c0003t0001 a0001c0003t0012 a0001c0003t0016 a0001c0003t0024 a0001c0003t0037 a0001c0003t0043 a0001c0003t0045 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0022 a0001c0012t0004 a0001c0017t0022 a0001c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0246 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0334 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0072 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0118 a0001c0001t0006g0079 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0007g0071 a0001c0002t0001g0184 a0001c0002t0003g0019 a0001c0002t0003g0084 a0001c0002t0003g0096 a0001c0002t0003g0119 a0001c0002t0003g0244 a0001c0002t0003g0361 a0001c0002t0004g0273 a0001c0002t0028g0293 a0001c0003t0001g0132 a0001c0003t0001g0142 a0001c0003t0001g0148 a0001c0003t0012g0129 a0001c0003t0016g0214 a0001c0003t0024g0009 a0001c0003t0037g0131 a0001c0003t0043g0143 a0001c0003t0045g0144 a0001c0004t0001g0247 a0001c0007t0001g0271 a0001c0008t0001g0202 a0001c0010t0022g0257 a0001c0012t0004g0250 a0001c0012t0004g0256 a0001c0017t0022g0130 a0001c0019t0001g0034	88	373	0.2359	408	c.654 others(423): Show c.654-428_654-427insTGGTGGGCACCCAGCAGCGTGGGCAGCACT GTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGG GCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACC GTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGG GCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGC ACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGT GGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGC AGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGCAC CCAGCAGCGTGGGCAGCACTGTGGGCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422457	C C	CCCACGCT others(401): Show CCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTG GGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTG CCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCC CACGCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGG TACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCC CAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCA CGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCC CACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCA CAGTGCTGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02615.hp1 others(5): Show HG02257.hp1 HG02451.hp2 HG02615.hp1 HG02818.hp2 HG02976.hp1 HG03453.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0003t0005 a0001c0003t0009 others(2): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0009 a0001c0003t0019 a0001c0009t0005	a0001c0003t0001g0035 a0001c0003t0005g0348 a0001c0003t0009g0023 others(5): Show a0001c0003t0001g0035 a0001c0003t0005g0348 a0001c0003t0009g0023 a0001c0003t0009g0349 a0001c0003t0009g0350 a0001c0003t0019g0036 a0001c0009t0005g0020 a0001c0009t0005g0022	8	373	0.0215	408	c.654 others(423): Show c.654-444_654-443insTCAGCACTGTGGGCAGCGGTGGGCACCCAG CAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAG CACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCG GTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCA GCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGCACC GTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGT GGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGC GTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGT GGGCAGCGGTGGGCACCCAGCAGCGTGG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422484	C C	CCACGGTG others(401): Show CCACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGC CCACCGCTGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCC ACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCC ACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAG TGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGC TGCTGGGTGCCCACCACTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCC ACCGCTGCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG02486.hp2 HG03453.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0015 a0001c0010t0015	a0001c0010t0015g0259 a0001c0010t0015g0261 a0001c0010t0015g0259 a0001c0010t0015g0261	2	373	0.0054	408	c.654 others(423): Show c.654-471_654-470insTGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTGGGCAGTGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCA GCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCA GCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGG TGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGC AGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGC ACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTG GGTACCCAGCACCTTGGGCAGCACCGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLCO4A1_chr20_62637503_62677293	62639145	T T	TTTTTATT others(401): Show TTTTTATTTTTTTTTTTTTAATACAAAATTTTTGTTAATTTAATTAAAAA ATTTAAAATTAAATTTTTTAAATTTAAAATTTTTTTCAATTAATTTTTAA ATTTTTTATAATTTTTATTAATTTTTATTAATTATATTAATAAAATTATT TTAAAAATTTTGCAAATTTTTTTAATAAAATTATTAAATAATTTTTTTAT TATTTTTTAATTTAAATTAAAAAATTTTTTATAAATTAAAATTATAAAAA AAAAATTTTATTTTTAAAAATTTAAATTTATATAAAATTTTTTTTATTGA AAATTAAAAATAATAATTAAAATAATTTTTTTCCCACCCCAACCATCAAT TCAAATCACCCCACCCCTTAAAATTTTATTTTTTTTTTTTAATTTTAAAA AATTTAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	432	0.0023	408	c.-35 others(419): Show c.-3505_-3504insTTTTATTTTTTTTTTTTTAATACAAAATTTTTGT TAATTTAATTAAAAAATTTAAAATTAAATTTTTTAAATTTAAAATTTTTT TCAATTAATTTTTAAATTTTTTATAATTTTTATTAATTTTTATTAATTAT ATTAATAAAATTATTTTAAAAATTTTGCAAATTTTTTTAATAAAATTATT AAATAATTTTTTTATTATTTTTTAATTTAAATTAAAAAATTTTTTATAAA TTAAAATTATAAAAAAAAAATTTTATTTTTAAAAATTTAAATTTATATAA AATTTTTTTTATTGAAAATTAAAAATAATAATTAAAATAATTTTTTTCCC ACCCCAACCATCAATTCAAATCACCCCACCCCTTAAAATTTTATTTTTTT TTTTTAATTTTAAAAAATTTAAAA	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding		3357		chr20	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(401): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATACTATATATTATATATTATATATATTATGTATACTATATAT TATATATTATATATATTATGTATACTATATATTATATATTATATATATAT TATATATATTATGTATACTATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATATTATATATATTATGT ATAATATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATTATATATATATTATATATATTATGTATAATATATATTAT ATATTATATATATATTATATATATTATGTATAATATATATTATATATTAT ATATATATT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0282 a0001c0001t0005g0282	1	310	0.0032	408	c.784 others(423): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATAGTATACATAATATATATAATATATATATAATATATAATA TATAGTATACATAATATATATAATATATAATATATAGTATACATAATATA TATAATATATAATATATAGTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168592907	C C	CGAGCTCC others(401): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGATC TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT GGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAG GATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATCTCCGAGCTCCTCCTCCTTCCTGAGGCTTCACGGGCATCTTTCTAG AGGATCGCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02970.hp2 HG02559.hp2 HG02922.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0002 a0001c0004t0005 a0001c0001t0003 a0001c0002t0002 a0001c0004t0005	a0001c0001t0003g0169 a0001c0002t0002g0037 a0001c0004t0005g0049 a0001c0001t0003g0169 a0001c0002t0002g0037 a0001c0004t0005g0049	3	180	0.0167	408	c.638 others(425): Show c.638-5864_638-5863insCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCT GAGGCTTCACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594729	C C	CGGGCATC others(401): Show CGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCAC AAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTC ACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAG GCCTCATGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGA GGCCTCATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGG CCTCACAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01261.hp2 others(11): Show HG00738.hp1 HG01167.hp1 HG01261.hp2 HG01496.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp2 HG02572.hp1 HG03130.hp2 HG03209.hp2 NA19030.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0011t0006	a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0124 others(11): Show a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0004g0129 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0052 a0001c0002t0002g0180 a0001c0011t0006g0167	14	180	0.0778	408	c.638 others(425): Show c.638-4069_638-4068insGCTGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCA CAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCT CACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAA GGCCTCATGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTG AGGCCTCATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAG GCCTCACAAGGGGCATCTTTCTAGAGGATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(401): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCTGGACTCCAGTTCTCCTCCTTGGACC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGT CCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG00735.hp2 HG01106.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0013c0020 a0002c0003 a0013c0020	a0002c0003t0001 a0013c0020t0001 a0002c0003t0001 a0013c0020t0001	a0002c0003t0001g0148 a0013c0020t0001g0142 a0002c0003t0001g0148 a0013c0020t0001g0142	2	190	0.0105	408	c.72+ others(425): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGCCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCTGGACT CCAGTTCTCCTCCTTGGACCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGCCCCC AGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TTGGACCCCAATCCTCCTCCTGGCCCCCAGTCCTCCTCCTTGGACCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(401): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0334 a0001c0001t0017g0334	1	356	0.0028	408	c.-11 others(429): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(401): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0014 a0003c0011t0014	a0003c0011t0014g0346 a0003c0011t0014g0346	1	356	0.0028	408	c.-11 others(429): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(401): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATA TAACATATG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0093 a0001c0004t0008g0093	1	356	0.0028	408	c.-11 others(429): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(401): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATGTTATATAATGATATATA ATATATATCATTATATGTTATATAATGATATATAATATATATCATTATAT GTTATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATA TAACATATG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0223 a0001c0001t0112g0223	1	356	0.0028	408	c.-11 others(429): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATGTTATATAATGATATATAATATATATCATTATATGTTATATAATGA TATATAATATATATCATTATATGTTATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190182	T T	TATAATGA others(401): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATA TAACATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0008 a0001c0047t0008	a0001c0047t0008g0131 a0001c0047t0008g0131	1	356	0.0028	408	c.-11 others(429): Show c.-112+29252_-112+29253insAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACATATAATG ATATATAATATATATCATTATATAACATATAATGATATATAATATATATC ATTATATAACATATAATGATATATAATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATATAACATATAAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SRXN1_chr20_641615_658200	642362	G G	GGCCCAGC others(401): Show GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	408	c.63 others(419): Show c.6351_*6352insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4252		chr20	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016141	T T	TCTCCTCC others(401): Show TCTCCTCCTCCTGTATCTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCC TCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTC CTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCT CCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCC TGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTG TATCTTCCCCTCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTA TCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC TCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTC CTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0193 a0002c0002t0015g0193	1	202	0.0050	408	c.262 others(427): Show c.262-28062_262-28061insTCCTCCTCCTGTATCTCCTCCCTCCC CTCCTGTATCTTCCCCTCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCT CCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCC TGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTG TATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA TCTCCTCCCCCTCCTCCTCCTGTATCTTCCCCTCCTCCTCCTCCTGTGTC TCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTC CTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCCCTCC	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(401): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCTCCCCTCCTGTATC TTCCCCTCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTC CTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCC CCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCC CTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCT CCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCC TCCTCCTGTATCTCCTCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTATC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0177 a0002c0002t0008g0177	1	202	0.0050	408	c.262 others(427): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTGTATCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCC CCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCC CTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCT CCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCC TCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTC CTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCTCATCCTC CTGTATCTCCTCCCCCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUCLG2_chr3_67369719_67659612	67444510	T T	TGGGGGGG others(401): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCAC CCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19030.hp2 HG02559.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0105 a0002c0002t0004g0069 a0001c0001t0002g0105 a0002c0002t0004g0069	2	280	0.0071	408	c.106 others(429): Show c.1063-43660_1063-43659insCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGCGGGCTGACC CCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(401): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGGGAG GGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0263 a0001c0001t0082g0263	1	276	0.0036	408	c.-18 others(427): Show c.-18+37479_-18+37480insTCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCT CCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCTCTCCCGCCTCCCCTTCTCTCTCTCCCTCCCC ACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(401): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGAGG GAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGGAGAG AGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAG AGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0008 a0001c0003t0006g0008	1	276	0.0036	408	c.-18 others(427): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC CTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCTCCCCCCCCTCTCTCCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCC CCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(401): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGA GGGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAG AGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0007 a0001c0001t0049g0007	1	276	0.0036	408	c.-18 others(427): Show c.-18+37479_-18+37480insTCTCTCTCTCTCCCTCCCTCCCTCCC TCCCCCTCTCTCTCCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCC TCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC TCCCCCCCCTCTCTCCCCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCC CCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(401): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGGAGAGAGGGGGAGG GGGGAGAGAGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGAG GGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAG AGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0010 a0001c0001t0046g0010	1	276	0.0036	408	c.-18 others(427): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CTCCCCCCCCTCTCTCCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCC CCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158701195	A A	AAGGAGTG others(401): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGG AGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATG AAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGT GAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGA GGGTCATGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG01258.hp1 others(7): Show HG01099.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG03942.hp1 HG04228.hp2 NA18990.hp1 NA19070.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0008c0018	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0008c0018t0001	a0001c0001t0001g0041 a0001c0001t0001g0235 a0001c0001t0001g0236 others(7): Show a0001c0001t0001g0041 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0285 a0003c0006t0001g0064 a0008c0018t0001g0079	10	292	0.0343	408	c.395 others(425): Show c.395-5824_395-5823insAGTGTGAGCTGGGGTGTAGATGAAGGGC TGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGG GGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCAT GGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGC CGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TALDO1_chr11_742464_770012	763236	C C	CCCCCGCC others(401): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATC CCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCC GCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATCCCCGC CCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCT CACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCAC CGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGTCCCCGCCCTCACCCA TCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCC CGCCCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGC CCTCACCGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	416	0.0024	408	c.462 others(421): Show c.462-94_462-93insGCCCCCGCCCTCACCCATCCCCGCCCTCACCC ATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCC CCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATCCC CGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGC CCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCT CACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGTCCCCGCCCTCAC CCATCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCCCGCCCTCACCCGC CCCCGCCCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCC CGCCCTCACCGTCCCCGCCCTCACCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TBCE_chr1_235362427_235457443	235412172	C C	CCCGCTCC others(401): Show CCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCCTTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCTTCCCCCTCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCTCCCCCCTC CCCCTCCTCTCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCT CCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCT CCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	268	0.0037	408	c.186 others(425): Show c.186-2259_186-2258insGCTCCCCTCCCCCTCCCCTCCCCTCCCC ATCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCTCCCCCCTCCCCCTCCTCTCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCC TCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCC TCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTC CCCTCCCCCCTCCCCCCTCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(401): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	330	0.0030	408	c.222 others(427): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF3_chr19_1604292_1657615	1628016	G G	GGGGGTGA others(401): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGG CGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCAC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0021 a0001c0005t0009g0021	1	352	0.0028	408	c.299 others(423): Show c.299-591_299-590insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTC TGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628157	G G	GGTGGGGC others(401): Show GGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGG GGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0254 a0009c0021t0001g0254	1	352	0.0028	408	c.299 others(423): Show c.299-732_299-731insTCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTT CTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCGCCCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCT TCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCAC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628969	A A	ACGGGGTG others(401): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAGCAGAACT CACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGG CGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGC AGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGAC AGCAGAGCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0284 a0002c0001t0019g0284	1	352	0.0028	408	c.299 others(425): Show c.299-1544_299-1543insAGCTCTGCTGTCCCCTTCCCACCCCATC CCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCC ACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGC TCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(401): Show CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGG GGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAA GGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTC ATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAA GGGGACAGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0092 a0003c0006t0001g0092	1	352	0.0028	408	c.299 others(425): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCACGCTCCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCACGCTCCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTTCTGTCCC CTTCCCGCCCCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCTGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273120	A A	ACATCAGA others(401): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0183 a0001c0003t0001g0183	1	392	0.0026	408	c.228 others(425): Show c.2287-841_2287-840insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFEB_chr6_41678978_41740608	41738241	T T	TATATATG others(401): Show TATATATGCATATATATATGCATATATATATGCATATATATACGTATATA TATGCATATATATATGCATATATATGCATATATATACGTATATATATGCA TATATATATGCATATATATATGCATATATATACGTATATATATGCATATA TATGCATATATATACGTATATATATACATATATATGCATATATATATACA TATATATATGCATATATATGCATATATATATACGTATATATATGCATATA TATATGCATATATATACGTATATATATGCATATATATATGCATATATATA CGTATATATATATATGCATATATATACGTATATATATGCATATATATATG CATATATATACGTATATATATGCATATATATATGCATATATATATACATA TATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	406	0.0025	408	c.-29 others(419): Show c.-2915_-2914insGTATATATATATGTATATATATATGCATATATAT ATGCATATATATACGTATATATATGCATATATATATGCATATATATACGT ATATATATGCATATATATATATACGTATATATATGCATATATATATGCAT ATATATACGTATATATATGCATATATATATGCATATATATACGTATATAT ATATGCATATATATGCATATATATATGTATATATATATGCATATATATGT ATATATATACGTATATATATGCATATATATGCATATATATACGTATATAT ATGCATATATATATGCATATATATATGCATATATATACGTATATATATGC ATATATATGCATATATATATGCATATATATACGTATATATATGCATATAT ATATGCATATATATATGCATATAT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding		2634		chr6	TogoVar
TMCO3_chr13_113486021_113555229	113543295	C C	CCCACCTC others(401): Show CCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCAC CTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCCTCCCCCTGA CCCCCTGCCCTCCCTCTGTCCGTGACCCCCCTCCTCCCCCTGTGCCCCAC CCTCCCTGTGTGTGACCCCCACCTCCTCCCCCTGCCCCCGCCCTCCCTCT GTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGAC CACCTCCTCCCCCTGCCCTCCCTCTGTCCGTGACCCCCACCTCCTCCCCT TGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCC ACCCTCTCTGTCTGTGACCCCCACCTCCTCCCCCTGCCCCCCGCCCTCCC TGTCCGTGA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0087 a0003c0002t0002g0087	1	368	0.0027	408	c.169 others(427): Show c.1690+3801_1690+3802insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTC CTCCCCCTGACCCCCTGCCCTCCCTCTGTCCGTGACCCCCCTCCTCCCCC TGTGCCCCACCCTCCCTGTGTGTGACCCCCACCTCCTCCCCCTGCCCCCG CCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCC TGTCCGTGACCACCTCCTCCCCCTGCCCTCCCTCTGTCCGTGACCCCCAC CTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCTCCTCCC CCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCCCTGCCCC CCGCCCTCCCTGTCCGTGACCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM242_chr6_157284025_157328519	157310972	T T	TAGTGCCC others(401): Show TAGTGCCCCAGTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGC ACTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCAT CATAGTGGCCCAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGT GTGCTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTC ATCACAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGT GTACACACACCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCC TCATCAGAGTGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCA GTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGG CCTCATCAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG02717.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	2	344	0.0058	408	c.327 others(425): Show c.327+7809_327+7810insGTGATGAGGCCGGGTGAGTGCACACTGG GACCCTATGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGC CGGGTGAGTGCACACTGGGGCACTCTGATGAGGCTAGGTGAGCGCACACT GGGACACCATGATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAG GCTAGGTGAGCGCACACTGGGGCACTGTGATGAGGCTAGGTGAGTGCACA CTGGGACACTGTGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATG AATCTAGGTGATCGGATACTGGGCCACTATGATGAGGCTAGGTAAGCGGA CACTGGGACACTATGATTAGGCCAGGTGAGTGCTCACTGGGACACTATGA TTAGGCCAGGTGAGTGCACACTGGGGCACT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157310972	T T	TAGTGCCC others(401): Show TAGTGCCCCAGTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGC ACTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCAT CATAGTGGCCCAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGT GTGCTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTC ATCACAGTGCCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGTCCCAGT GTACACACACCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCC TCATCATAGTGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCA GTGTGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGG CCTCATCAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	344	0.0029	408	c.327 others(425): Show c.327+7809_327+7810insGTGATGAGGCCGGGTGAGTGCACACTGG GACCCTATGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGC CGGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCGCACACT GGGACACCATGATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAG GCCAGGTGAGCGCACACTGGGGCACTGTGATGAGGCTAGGTGAGTGCACA CTGGGACACTGTGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATG AATCTAGGTGATCGGATACTGGGCCACTATGATGAGGCTAGGTAAGCGGA CACTGGGACACTATGATTAGGCCAGGTGAGTGCTCACTGGGACACTATGA TTAGGCCAGGTGAGTGCACACTGGGGCACT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311258	A A	AGCCTCAT others(401): Show AGCCTCATCATAGTGTACCAGTGTGCGCTCACCCGGCCTAATCATAGTGC CCCAGTGTGCACTCACCAGGTCTCATCATAATGACCCAGTGTGCACTCAC CTAGCCTCATCATACTATCCCAGTATGCGCTCACCTAGCCTCATCATTGT GTCCCAGTGTGCGCTCAACCGGCCTCATCATAGTGCCCCAGTGTGCACAC ACCTAGCCTCATAATAGTGTCCCAGTGTGCGCTCAACCGGCCTCATCATA GTGCCCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCGCAGTGTGCGC TCACCTGGCTTCAACATAGTGTCCCAGTGAGCGCTCGCCTGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCCGGCCTCATCATGGTGCCCCAGTGTGC ACTCACCCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0074 a0001c0001t0027g0074	1	344	0.0029	408	c.327 others(425): Show c.327+7523_327+7524insCGGGTGAGTGCACACTGGGGCACCATGA TGAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCCAGGCGAGCG CTCACTGGGACACTATGTTGAAGCCAGGTGAGCGCACACTGCGGCACTAT GATGAGGCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCCGGTTGAG CGCACACTGGGACACTATTATGAGGCTAGGTGTGTGCACACTGGGGCACT ATGATGAGGCCGGTTGAGCGCACACTGGGACACAATGATGAGGCTAGGTG AGCGCATACTGGGATAGTATGATGAGGCTAGGTGAGTGCACACTGGGTCA TTATGATGAGACCTGGTGAGTGCACACTGGGGCACTATGATTAGGCCGGG TGAGCGCACACTGGTACACTATGATGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311522	A A	ACTCACCC others(401): Show ACTCACCCGGCCTCATCATAGTGCCCAAGTGTGCACTTACCTAGCCTCAT CATAGTGTCCCACTGTGCGCTCACCCGGCCTCATCATAGTGTAACAGTGT GCGCTCACCTGGCCTCATCTTAGTGCCCCACTGTGCACTCACCTAGCCTC ATCATAGTGCCTCAGTGTGCACTCACATAGCCTCATCATAGTGCCCCAGT ATGAGCTCACCTAGCCTCATCATAGTGCCCCAGTCTGCGCACACCTAGCC TCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCACATCATAGTGTCCCA GTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGAGTGCGCTCACCCGG CCTCATCATAGTGCCCCAGTGTGCGCTCACCTAGCTTCATCATAGTGTCA TAGTGGGAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02055.hp2 HG02083.hp1 others(30): Show HG01975.hp2 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02523.hp1 HG02630.hp2 HG02735.hp2 HG02895.hp2 HG03098.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18966.hp2 NA18969.hp2 NA18975.hp2 NA18980.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19060.hp1 NA19066.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0003t0010	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0012g0114 a0001c0001t0016g0142 a0001c0001t0022g0140 a0001c0003t0010g0063	33	344	0.0959	408	c.327 others(425): Show c.327+7259_327+7260insCTCCCACTATGACACTATGATGAAGCTA GGTGAGCGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACTCTGG GACACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGTGGC TAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTGTGCGCAGACT GGGGCACTATGATGAGGCTAGGTGAGCTCATACTGGGGCACTATGATGAG GCTATGTGAGTGCACACTGAGGCACTATGATGAGGCTAGGTGAGTGCACA GTGGGGCACTAAGATGAGGCCAGGTGAGCGCACACTGTTACACTATGATG AGGCCGGGTGAGCGCACAGTGGGACACTATGATGAGGCTAGGTAAGTGCA CACTTGGGCACTATGATGAGGCCGGGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311559	C C	CACCCGGC others(401): Show CACCCGGCCTCATCACAGTGTCCCAGTATGCGCTAACCTAGCCTCATCAT AGTGTCCCAGTGTTCGCTCACCTAGCCTGATCATAGTCCCCCAGTGTGCA CTCACGTGGCCTCATCATACTGTCCCAGTGTGCACTCACCTGGCCTCATC ATAGTGTCCCAGTGAGCACTCAACGGGCCTAATCATAGTGTCCCAGTGTC CGCTTACCTAGCCTCACCATAGTGGCCCAGTATCCGATCACCTACATTCA TCATATTGTCCCAGTGTGCACTCACCTGGCCTCATCATAGTGCCCCAGTG TGTGCTCATCTAGCCTCATCATAGTGTCCCAGTGTGCCCTCACCTAGCCT CATCATACTATCCCAGTGTGCACTCACCTGGCCTCATGATAGTGTACCAG TGTGCACTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	344	0.0029	408	c.327 others(425): Show c.327+7222_327+7223insTAGTGCACACTGGTACACTATCATGAGG CCAGGTGAGTGCACACTGGGATAGTATGATGAGGCTAGGTGAGGGCACAC TGGGACACTATGATGAGGCTAGATGAGCACACACTGGGGCACTATGATGA GGCCAGGTGAGTGCACACTGGGACAATATGATGAATGTAGGTGATCGGAT ACTGGGCCACTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGAT TAGGCCCGTTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGC ACACTGGGACAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATG ATCAGGCTAGGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGC GCATACTGGGACACTGTGATGAGGCCGGGT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311972	G G	GGCCTCAT others(401): Show GGCCTCATCATAGTGCCCCAGTGAGCACTCACCTAGCCTCAGCATAGTGC CCCAGTGTGCACTCAACCGGCCTCATCATAGTGTCCCAGTGTGCGCTCAC CTAGCCTCAACATAGCGCCCTAGTGTCCCCTCACCTAGCCTCATCATAGT GTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTTCCAGTGTGCGCTC ACCTAGCCTCATCATAGTGTTCCAGTGTGCACGCATACGGCCTCATCATA GTGTCCCAGTGTGCAATCACCTGGCCTCATCATAGTGCCCCAGTGAGCAC TCACCTAGCCTCAGCATAGTGCCCCAGTGTGCACTCAACCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCTAGCCTCAACATAGCGCCCTAGTGTCC CCTCACCTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	344	0.0029	408	c.327 others(425): Show c.327+6809_327+6810insTAGGTGAGGGGACACTAGGGCGCTATGT TGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCCGGTTGAGTG CACACTGGGGCACTATGCTGAGGCTAGGTGAGTGCTCACTGGGGCACTAT GATGAGGCCAGGTGATTGCACACTGGGACACTATGATGAGGCCGTATGCG TGCACACTGGAACACTATGATGAGGCTAGGTGAGCGCACACTGGAACACT ATGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTG AGGGGACACTAGGGCGCTATGTTGAGGCTAGGTGAGCGCACACTGGGACA CTATGATGAGGCCGGTTGAGTGCACACTGGGGCACTATGCTGAGGCTAGG TGAGTGCTCACTGGGGCACTATGATGAGGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar

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Search Results (Total: 10000 hits)