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
SCNN1D_chr1_1275436_1297025	1290232	G G	GCTCCATC others(399): Show GCTCCATCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCAT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCTGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCAT GTCTCCA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0210 a0001c0009t0001g0210	1	290	0.0035	406	c.166 others(421): Show c.1663-30_1663-29insCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCATGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCTGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCATGTCTCCACTCCATCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(399): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGG TGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGAT GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG02071.hp1 HG00738.hp2 HG01257.hp2 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0008 a0002c0001t0021 a0002c0001t0005 a0002c0001t0008 a0002c0001t0021	a0002c0001t0005g0169 a0002c0001t0008g0266 a0002c0001t0021g0017 a0002c0001t0005g0169 a0002c0001t0008g0266 a0002c0001t0021g0017	3	316	0.0095	406	c.257 others(425): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCCATCACCCTCAC CCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCC CTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC2_chr19_411589_466033	431544	C C	CAGATAGA others(399): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGACCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCAGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCG GGCAGAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0048 a0005c0009t0005g0048	1	212	0.0047	406	c.111 others(423): Show c.1111-798_1111-797insATCTGCCCGGCCTCCTCTATCTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCC TCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCC GGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT ATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAG CGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCA CGATGAAGCGCCATCTATCTGCCCGGTCTCCTCTAACTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCTATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	401975	C C	CGCTCACC others(399): Show CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGAC CCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCC GCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	242	0.0041	406	c.39 others(417): Show c.3920_*3921insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGC GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGG GGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGT GAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAG CGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGT CGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGG GGTGAGCGGGTCGGGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3740		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(399): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGAGGCGGGGGGCGGGAGGGGAGGAGGCGGGGGA GGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGGAGGCGGGGGGGC GGGAGGGGGGAGGCGGGGGGCGGGGGGGGCGGGAGGGGGGAGGAGGCGGG GCGGGGGGGCGGGAGGGGGAGGGAGGCGGGGGGGCGGGGGGGCGGGGGGC GGGAGGGAGGGGAGGAGGCGGGGGGGAGGCGGGGGGGGGGGGGGCGGGGG GGGGGGGCGGGAGGGGGAGGACGGGGGGCGGGGGGGGGGGGGGGGGGGGG GCGGAGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	222	0.0045	406	c.914 others(425): Show c.914-32089_914-32088insCCTCCGCCCCCCCCCCCCCCCCCCCC CCGCCCCCCGTCCTCCCCCTCCCGCCCCCCCCCCCCGCCCCCCCCCCCCC CGCCTCCCCCCCGCCTCCTCCCCTCCCTCCCGCCCCCCGCCCCCCCGCCC CCCCGCCTCCCTCCCCCTCCCGCCCCCCCGCCCCGCCTCCTCCCCCCTCC CGCCCCCCCCGCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCCTCCC CCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCC TCCCGCCCCCACGCCTCCTCCCCCTCCCGCCTCCCCCGCCTCCTCCCCTC CCGCCCCCCGCCTCCCCCTGCCGCCCCCCCGCCTCCTCCCCCTGCCGCCC CCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SORCS2_chr4_7187538_7747827	7724573	A A	ATAATGGT others(399): Show ATAATGGTGACAATGGTGGTGGTGATGGTGATGGTGATGGTGATGGTGGT GGTGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGCGGTGATGATGG TGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTG GTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGT GGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAG TGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGTTGGTGGGAATG GATGGTGGTAGTAGTGGTGATGGTGGTGATGATGGTGATGGTGGTGATGG TGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTGGTGATG ATGGTAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0028 a0001c0028t0028	a0001c0028t0028g0152 a0001c0028t0028g0152	1	168	0.0060	406	c.261 others(423): Show c.2612-580_2612-579insAATGGTGACAATGGTGGTGGTGATGGTG ATGGTGATGGTGATGGTGGTGGTGAGGATGGTGATGGTGGTGATGGTGGT GGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGA TGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTG CTGGTGAGGATGGTGATGGTGGTGGTGATGGTGGAGGTGATGGTGGTAGT TATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGG TGATAGTGTTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGAT GATGGTGATGGTGGTGATGGTGGTGGTGATGGCGGTGATGATGGTGGAGG TGATGGTGGTAGTGGTGATGATGGTAGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(399): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAAGCG GGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAG ATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGG GAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGG GGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAAG GGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGA AGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0040 a0004c0005t0006g0040	1	251	0.0040	406	c.34 others(415): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCC TTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCC TCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(399): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGAGG GAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAG AGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG02071.hp2 others(2): Show HG00408.hp2 HG00609.hp2 HG02071.hp2 HG02129.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0030 a0001c0003t0027 others(1): Show a0001c0001t0004 a0001c0002t0030 a0001c0003t0027 a0001c0003t0083	a0001c0001t0004g0012 a0001c0002t0030g0011 a0001c0003t0027g0019 others(2): Show a0001c0001t0004g0012 a0001c0002t0030g0011 a0001c0003t0027g0019 a0001c0003t0027g0120 a0001c0003t0083g0009	5	276	0.0181	406	c.-18 others(425): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC TCCCCCCCCTCTCTCCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628699	A A	ACGGGGTG others(399): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAA GGGGACACCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGA GCTCACAGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGCGGGAAAGGGACAGCAG AACTCACGGGGTGAGGTGGGAAGGGGACACCAGAGCTCACAGGGGGTGAT GCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAG CAGAACT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0035 a0003c0006t0035	a0003c0006t0035g0345 a0003c0006t0035g0345	1	352	0.0028	406	c.299 others(423): Show c.299-1274_299-1273insAGTTCTGCTGTCCCTTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGCTCTGG TGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTC ACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCTTTCCCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCAT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CATCACCCCCTGTGAGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGT TCTGCTGTCCCCTTCCCGCCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629082	C C	CGGGAAGG others(399): Show CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGG ACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGACAGAAGAGCTCATGGGG ATGGGGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0002 a0012c0030t0002	a0012c0030t0002g0163 a0012c0030t0002g0163	1	352	0.0028	406	c.299 others(423): Show c.299-1657_299-1656insACCCCATCCCCATGAGCTCTTCTGTCCC CTTCCCGCCCCACCCGTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCA TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAT CCCCTGTGAGCTCTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(399): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATC CGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAG CCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG03654.hp1 HG01261.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0004 a0001c0001t0001g0001 a0001c0002t0002g0004	2	434	0.0046	406	c.-27 others(417): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAG GTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTGCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTC CCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMEM120B_chr12_121707752_121787068	121747258	G G	GAAGGTGG others(399): Show GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGG GAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0292 a0002c0002t0008g0292	1	314	0.0032	406	c.189 others(423): Show c.189-1044_189-1043insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAAAAGGTGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(399): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCCT CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCT CTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTC TCCCCTCCCCTCGCCCTTCCCCTCCCCCTCGCCCTTCCCCTCTTCCCTCC CCTCTCCCCTCTCCCCTCCCCTCCCCATCTCCCCTCTCATCTCCCCTCTC CCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCC TCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCC TCCCCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	114	0.0088	406	c.-25 others(425): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTC TCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCC CCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCCT CGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCATC TCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCT CTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCC TTCCCTCCCCTCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(399): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCTC CTCTCCCCTCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCTCCC CTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTC TCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCT CTCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCCTCTTCCCCTC CCCTCTCCCCCTCTCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTC CCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCC TCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCC TCCCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0046 a0002c0005t0002g0046	1	114	0.0088	406	c.-25 others(425): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCCCCCTCCTCTCCCCTCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCT CTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCC CTCTCCTCTCTCCTCCCCTCTCTCCCTCCCCTCGCCCTTCCCCTCCCCTC GCCCTTCCCCCTCTTCCCCTCCCCTCTCCCCCTCTCCCTCCCCTCCCATC TCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCT CTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCC TTCCCTCCCCTCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287395	G G	GCCTCCCC others(399): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	348	0.0029	406	c.519 others(423): Show c.519+1228_519+1229insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287493	C C	CCCTCCCC others(399): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CTCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	348	0.0029	406	c.519 others(423): Show c.519+1130_519+1131insCTGCGGCGGGGAGGGTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287549	G G	GCCTCCCC others(399): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA GCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	348	0.0029	406	c.519 others(423): Show c.519+1074_519+1075insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287605	C C	CCCTCCCC others(399): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	348	0.0029	406	c.519 others(423): Show c.519+1018_519+1019insCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287605	C C	CCCTCCCC others(399): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	348	0.0029	406	c.519 others(423): Show c.519+1018_519+1019insCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287633	G G	GCCTCCCC others(399): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	348	0.0029	406	c.519 others(421): Show c.519+990_519+991insGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGTGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(399): Show CGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTG CCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCC TCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTC CCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGC AGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCAC CCTCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0309 a0001c0001t0004g0309	1	348	0.0029	406	c.519 others(421): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGC AGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGC TGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGG GGAGGCTGCGGCAGAGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507285	C C	CATACGTA others(399): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATAATGTATATATACATTAT ACATACGTAAATGTATAATGTATAATGTATATATACATTATACATACGTA AATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATAT ATACATTATACATACGTAAATGTATAATGTATATATACATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATATATATACATTATACATACGTAA ATGTATT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	388	0.0026	406	c.-23 others(423): Show c.-23+2762_-23+2763insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTATACATTTACGTATGTATAATGTATATATACATTATA CATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT GTATAATACATGTATATATACATATATACATTTACGTATGTATAATACAT GTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(399): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATACATAAAAATTATATATATATTATATATACATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATAATATATATATATA AAAATTATATATATATATTATATATATATATAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	406	c.29 others(417): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATACATAAAAATTATATATATATTATAT ATACATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TAATATATATATATAAAAATTATATATATATATTATATATATATATAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATAA others(399): Show AAAAATAAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAAAATAAAATA AAATAAAATAAAATAAATAAAATAAATAAAATAAAATAAAATAAAATAAA ATAAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0021 a0001c0001t0022g0021	1	352	0.0028	406	c.546 others(425): Show c.5468-2441_5468-2440insATTTTATTTTATTTTATTTTATTTTA TTTTATTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTTTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTA TTTTATTTTATTTTATTTTATTTTTATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(399): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATA TTTATGTAATATATAATATTTATATATATTTATGTAATATATAATATTTA TATATTATATTTATGTAATATATATTTATATATTATATTTATGTAATATA TAATATT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0094 a0002c0002t0005g0094	1	204	0.0049	406	c.213 others(425): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATATATTACATAAATATAATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATATATAAATATTATATA TTACATAAATATAATATATAAATATTATATATTACATAAATATAATATAT AAATATTATATATTACATAAATATAATATATAAATATTATATATTACATA AATATAATATATAAATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAAATATTATATATTACATAAATATAA TATATAATATATATTATATATTACATAAATATAATATATAATATATATTA TATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(399): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATAT TTATATATATTTATGTAATATATAATATTTATATATATTTATGTAATATA TAATATT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	204	0.0049	406	c.213 others(425): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATATA TAAATATTATATATTACATAAATATATATAAATATTATATATTACATAAA TATATATAAATATTATATATTACATAAATATAATATATAAATATTATATA TTACATAAATATAATATATAAATATTATATATTACATAAATATAATATAT AAATATTATATATTACATAAATATAATATATAAATATTATATATTACATA AATATAATATATAAATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAAATATTATATATTACATAAATATAA TATATAATATATATTATATATTACATAAATATAATATATAATATATATTA TATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX3A_chrX_6528618_6540118	6533459	A A	ACACCACC others(399): Show ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCCACACACCACGTCTTCCTCCCTCCCTCCC CACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0007 a0007c0008t0001g0007	1	74	0.0135	406	c.28 others(415): Show c.285_*286insGTGTGTGGGGAGGGAGGGAGGAAGACGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		158		chrX	TogoVar
VPS50_chr7_93227366_93366123	93347520	T T	TGTTTGTT others(399): Show TGTTTGTTTTTTGGAGACAAGATCGTGCTCCGTCACTCAGGCTGGAGTGC AATGGCATGATCACAGCTCACTGCAGTCTTGACCTCCCAGGTTCAAGCGA TCCATTCACCTTAGCCCCCTGAGTAGCTGAGTCTACAGTCACCTGCCACC ACACCCAGCTAATTTTTTTTTTTTTTTGAGATGGCATTTCCCTCTTGTCA TCCAGGCTGGGGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGCCT CCCGAGTTCAAGCGATTCTCCTGCCTCGAACTCCTGAGCAACACGCCCAG CTAATATTTAAAAATTTGTAGAGATAAGGGTCTCAGCTTGTTGCCCAGGA TGGTCTTGAACTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTAAA GTGCTGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG02109.hp2 others(3): Show HG00639.hp1 HG01167.hp2 HG02109.hp2 HG02896.hp1 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0030	a0001c0001t0001g0150 a0001c0002t0001g0266 a0001c0002t0001g0267 others(3): Show a0001c0001t0001g0150 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0002g0274 a0001c0002t0002g0288 a0001c0002t0030g0138	6	316	0.0190	406	c.220 others(425): Show c.2208-1190_2208-1189insTTTGTTTTTTGGAGACAAGATCGTGC TCCGTCACTCAGGCTGGAGTGCAATGGCATGATCACAGCTCACTGCAGTC TTGACCTCCCAGGTTCAAGCGATCCATTCACCTTAGCCCCCTGAGTAGCT GAGTCTACAGTCACCTGCCACCACACCCAGCTAATTTTTTTTTTTTTTTG AGATGGCATTTCCCTCTTGTCATCCAGGCTGGGGTGCAATGGTGTGATCT TGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCG AACTCCTGAGCAACACGCCCAGCTAATATTTAAAAATTTGTAGAGATAAG GGTCTCAGCTTGTTGCCCAGGATGGTCTTGAACTCCTAGGCTCAAGCCAT CCTCCTGCCTCAGCCTCCTAAAGTGCTGGG	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(399): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01358.hp2 HG03486.hp2 others(5): Show HG00673.hp1 HG01358.hp2 HG03486.hp2 NA18969.hp1 NA18987.hp1 NA18994.hp1 NA19090.hp1 NA21309.hp2	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0005 a0008c0009 a0003c0003 a0005c0005 a0008c0009	a0003c0003t0002 a0005c0005t0002 a0008c0009t0009 a0003c0003t0002 a0005c0005t0002 a0008c0009t0009	a0003c0003t0002g0002 a0003c0003t0002g0021 a0003c0003t0002g0083 others(4): Show a0003c0003t0002g0002 a0003c0003t0002g0021 a0003c0003t0002g0083 a0003c0003t0002g0093 a0005c0005t0002g0004 a0005c0005t0002g0105 a0008c0009t0009g0096	8	412	0.0194	406	c.-42 others(417): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(399): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGATATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACATATATATATCATATATATCACATA TATATATCATATATATATCATATATATGATATATATCATATATATATCAT ATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	350	0.0029	406	c.-34 others(417): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGATATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACATATATATAT CATATATATCACATATATATATCATATATATATCATATATATGATATATA TCATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317946	A A	ACACCCCC others(399): Show ACACCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCAGACACA GAGATGGAAAGACCACACACCCCGCCCAGACACAGAGATGGAAAGACCAC ACACCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCCAGACACA GAGATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCA CACACCCCGCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACA GAGATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCA CACCCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGA CACAGAGATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCA CACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	406	c.50 others(417): Show c.5080_*5081insCACCCCCAGACACAGAGATGGAAAGACCACACCC CCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGACACAG AGATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCACACAC CCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCAGACACA GAGATGGAAAGACCACACACCCCGCCCAGACACAGAGATGGAAAGACCAC ACACCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCAGACACA GAGATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCA CACACCCCGCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACACA GAGATGGAAAGACCACACACCC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4786		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(400): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0253 a0002c0003t0001g0253	1	336	0.0030	407	c.361 others(426): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(400): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCA TCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCT CAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCC ACCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0174 a0001c0001t0057g0174	1	337	0.0030	407	c.61+ others(422): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGGGGGGGGT GGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGG TGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(400): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0003 a0001c0032t0003	a0001c0032t0003g0066 a0001c0032t0003g0066	1	388	0.0026	407	c.33+ others(424): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG TGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(400): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGG GGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGG AGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGG GGAGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp2 NA18522.hp1 HG03453.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0002g0157 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0002g0157	3	352	0.0085	407	c.51 others(418): Show c.5165_*5166insCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTC CCCTCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTC CCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCT TCCCTCCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCC TCCCCTCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCC CCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTC CCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCC CTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCC CCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(400): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAG GGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGG GGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAG GGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGA GGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGG AGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGG GGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	352	0.0028	407	c.51 others(418): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCT CCCCCCCTCCTCCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCC CTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCC CCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1459943	T T	TAGCAAAC others(400): Show TAGCAAACCTGCCTGTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGT GACCTGAGTTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTG CGTAACGAACCTGCCTGTGACCTGAATTTACCTGCGTAACAAACCTGCCT GTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACCTGAGTTTACC TGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAACCTGC CTGTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACCTGAGTTTA CCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCT GCCTGTGACCTGAATTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTT TACCTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0089 a0001c0001t0055g0089	1	106	0.0094	407	c.101 others(426): Show c.101-80784_101-80783insCACAGGTAAACTCAGGTCACAGGCAG GTTCGTTACGCAGGTAAATTCAGGTCACAGGCAGGTTTGTTACACAGGTA AACTCAGGTCACAGGCAGGTTCGTTACACAGGTAAACTCAGGTCACAGGC AGGTTTGTTACGCAGGTAAACTCAGGTCACAGGCAGGTTCGTTACACAGG TAAACTCAGGTCACAGGCAGGTTCGTTACGCAGGTAAACTCAGGTCACAG GCAGGTTTGTTACGCAGGTAAACTCAGGTCACAGGCAGGTTTGTTACGCA GGTAAATTCAGGTCACAGGCAGGTTCGTTACGCAGGTAAACTCAGGTCAC AGGCAGGTTTGCTACACAGGTAAACTCAGGTCACAGGCAGGTTTGTTACG CAGGTAAACTCAGGTCACAGGCAGGTTTGCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ALLC_chr2_3653200_3707671	3690385	C C	CCCCTCCC others(400): Show CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCCTCCCCCCCCTCCC CTCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0259 a0007c0008t0003g0259	1	274	0.0037	407	c.512 others(424): Show c.512-5329_512-5328insTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
APBA2_chr15_28880974_29123315	29063614	C C	CGGGGAGT others(400): Show CGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATC TGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTG TATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCG GGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTG GTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTA TGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGG GAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGT CAGTGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATG GGTGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0080 a0002c0004t0022g0080	1	204	0.0049	407	c.951 others(424): Show c.951+8831_951+8832insTCAGTGTCTGTATGGGTGGTGCGGGGAG TTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAG TGTCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGT GGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTT GATCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTG TCTGTATGGGTGGTGCGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGG GGAGGGGAGTTGATCTGGTCAGTGTCTGTATGGGTGGTGCGGGGAGTTGA TCTGGTCAGTGTCTGTATGGGTGGGGAGGGGAGTTGATCTGGTCAGTGTC TGTATGGGTGGGGAGGGGAGTTGATCTGG	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ATP11A_chr13_112685038_112892168	112845262	A A	AGCACTAG others(400): Show AGCACTAGCAGTACTAACCAGTCCAGTTGCCGGCACTAGCGGTACTATTC AGTCCAGTTGCCAGGCACTAGTGGTTCTAACCAGTCCAGTTGCCGGCACT AGCGGTACTAACCAGTCCAGTTGCCAGGCACTAGTGGTTCTAACCAGTCC AGTTGCCGGCACTAGCGGTACTAACCAGTCCAGTTGCCGGCACTAGCGGT ACTAACCAGTCCAGTTGCCAGGCACTAGTGGTTCTAACCAGTCCAGTTGC CGGCACTAGCGGTACTAACCAGTCCAGTTGCCGGCACTAGCGGTTCTAAC CAGTCCAGTTGCCGGCACTAGCGGTACTAACCAGTCCAGTTGCCAGGCAC TAGTGGTTCTAACCAGTCCAGTTGCCGGCACTAGTGGTTCTAACCAGTCC AGTTGCCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 NA18906.hp2 HG02965.hp1 HG03195.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0009 a0004c0027 a0001c0009 a0004c0027	a0001c0009t0003 a0001c0009t0048 a0004c0027t0074 a0001c0009t0003 a0001c0009t0048 a0004c0027t0074	a0001c0009t0003g0218 a0001c0009t0048g0045 a0004c0027t0074g0155 a0001c0009t0003g0218 a0001c0009t0048g0045 a0004c0027t0074g0155	3	254	0.0118	407	c.180 others(426): Show c.1809+2891_1809+2892insAGTACTAACCAGTCCAGTTGCCGGCA CTAGCGGTACTATTCAGTCCAGTTGCCAGGCACTAGTGGTTCTAACCAGT CCAGTTGCCGGCACTAGCGGTACTAACCAGTCCAGTTGCCAGGCACTAGT GGTTCTAACCAGTCCAGTTGCCGGCACTAGCGGTACTAACCAGTCCAGTT GCCGGCACTAGCGGTACTAACCAGTCCAGTTGCCAGGCACTAGTGGTTCT AACCAGTCCAGTTGCCGGCACTAGCGGTACTAACCAGTCCAGTTGCCGGC ACTAGCGGTTCTAACCAGTCCAGTTGCCGGCACTAGCGGTACTAACCAGT CCAGTTGCCAGGCACTAGTGGTTCTAACCAGTCCAGTTGCCGGCACTAGT GGTTCTAACCAGTCCAGTTGCCGGCACTAGC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(400): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	391	0.0026	407	c.36 others(418): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BRF1_chr14_105204286_105306001	105237612	G G	GCAGCCCC others(400): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCGCGTAGTCGCCCAGCTGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	72	0.0139	407	c.694 others(424): Show c.694+3652_694+3653insTCCAGGCTGTCCCCCGCCCCCAGCTGGG CGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGT TGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCAGCTGG GCGACTACGCGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGT TGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTG GGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTT GTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGC TGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGG TTGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(400): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGT CCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGATCTGTCC ACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGAACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0156 a0001c0001t0050g0156	1	322	0.0031	407	c.-17 others(418): Show c.-1799_-1798insTCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCA GCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGC AGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(400): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATC CTTGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTC CACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0095 a0001c0001t0116g0095	1	322	0.0031	407	c.-18 others(418): Show c.-1822_-1821insAGACGGTGGACAGATCCCCAGGATCCGGGCCCAG CAGGGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGA CCCCCAGGATCCGTGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
C2CD4C_chr19_400445_414147	410907	C C	CCGGATCC others(400): Show CCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCC CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0006 a0003c0009t0006	a0003c0009t0006g0150 a0003c0009t0006g0150	1	322	0.0031	407	c.-19 others(418): Show c.-1943_-1942insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGAT CCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGT GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGC GGTGGACAGATCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1761		chr19	TogoVar
C2CD4C_chr19_400445_414147	411008	C C	CCTGCTGG others(400): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCACG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCAC TGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTC CACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0027 a0001c0001t0031g0027	1	322	0.0031	407	c.-20 others(418): Show c.-2044_-2043insTGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGATCCCCAGGATC CGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1862		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(400): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACG GATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTC TGCTGGGCACGGATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA TCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTA CTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATC CTGGGGGTCTGTCCACCGTCTCTGCTGGGCCTGGATCCTTGGGGTCTGTC CACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0129 a0001c0002t0068g0129	1	322	0.0031	407	c.-23 others(418): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACA GACCCCAAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGA GACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(400): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGTCTCTG CTGGGCCCGGATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATC CTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTC CACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	322	0.0031	407	c.-23 others(418): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GATGGTGA others(400): Show GATGGTGATGATATTGATGGTGATGATATTGATGGTGATGATATTGATGG TGATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGA TAGTTATGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATG TGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATAGT GATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGTGAT GGTGATGATGACGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGGTGATGGTGATGGAGATGTTGGTGATGATGGTGATGGTGGTGATGATG TGATGGTA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0105 a0105	a0105c0117 a0105c0117	a0105c0117t0000 a0105c0117t0000	a0105c0117t0000g0018 a0105c0117t0000g0018	1	346	0.0029	407	c.963 others(424): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCACCATCACCACCATCACCATCATCACCATC ACCATCATCACCATCACCGTCATCATCACCATCACATCATCACCATCACC ATCATCACCATCACCATCATCACCATCATCACTATCATCACCATCACCAT CATCACCATCACCATCATCACCATCATCACCATCACCATCACCATCATCA CCATCACCATCATCACCATCATCACCATCACATCATCACCATCACCATCA TCACCATCATCACCATCACCATCATAACTATCACCATCATCACCATCATC ACCATCACATCATCACCATCACCATCATCACCATCAATATCATCACCATC AATATCATCACCATCAATATCATCACCAT	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GATGGTGA others(400): Show GATGGTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGA TGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGTGAT GGTGATGATGACGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGGTGATGGTGATGGAGATGTTGGTGATGATGGTGATGGTGGTGATGATG TGATGGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp1	a0033 a0074 a0033 a0074	a0033c0035 a0074c0083 a0033c0035 a0074c0083	a0033c0035t0000 a0074c0083t0000 a0033c0035t0000 a0074c0083t0000	a0033c0035t0000g0228 a0033c0035t0000g0236 a0074c0083t0000g0237 a0033c0035t0000g0228 a0033c0035t0000g0236 a0074c0083t0000g0237	3	346	0.0087	407	c.963 others(424): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCACCATCACCACCATCACCATCATCACCATC ACCATCATCACCATCACCGTCATCATCACCATCACATCATCACCATCACC ATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTAT CATCACCATCACCATCATCACCATCACCATCATCACCATCATCACCATCA CCATCACCATCATCACCATCACCATCATCACCATCATCACCATCACATCA TCACCATCACCATCATCACCATCATCACCATCACCATCATAACTATCACC ATCATCACCATCATCACCATCACATCATCACCATCACCATCATCACCATC AATATCATCACCATCAATATCATCACCAT	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar

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Search Results (Total: 10000 hits)