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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(993): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCCCCTTC TCCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCC CTCTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCC TTCCCCTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCCTCC CCTCCTCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTCCTC TCTCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCCT CTTCCTCTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCT CCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCT CCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTCC CCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTC CCCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCT CTTCCTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTT CCTCTCCTCCTCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTT CTCCTCTCCTCCTCCTCTCTTCCTCTCCTCCTCCTCTCCTCTTTTCCTCA TCCTCTCCTCCTTCTCCTCTCCTCTGCCTCCTCCTCTCCTCCTCCTTGTC TCCTCCTCCTACCCTCCTCCTTCCCTCTTCCTCCTCTCCTCCTCCTCTTC TTTTCCTCCTCTCCTCCTTCTTGTCTCCTCCCCGTCCTCTTCTCCTTCCC TCTTCCTCCTCCACTCCTCCTCCTCTCCTCCTTCTCCTCCTCCTCCTCTC CTCCTTCTTCTCTCCTCCTCCACTCCTCCTCTTCCTCCTCTCCTCCTCCT T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0027 a0003c0014t0027	a0003c0014t0027g0138 a0003c0014t0027g0138	1	218	0.0046	1000	c.108 others(1017): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAG AGGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGA GGAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAG AAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAG GAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAG GAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGA GGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGCAGGAGAGG AGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGG AGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGAT GAGGGGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGGAGGAAAAGAGG AGGAGGAGAGGAGGAGGAGGAGAGAGGAGGAGGAGGAGAGGAGGAGGAGG GGGAGGAGGAGAGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGAGGAG GATGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGGAGGAGAGGGGG AGGAGGAGGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGGAGGAGA GGGGAGGAGGAGGGGGAGGAGGAGAAGGGGAGGAGGAGGTGGAGAGGAGG AGGAGAGGAGGAAGAGGAGCAGAAGAGGAGGAGGAGAGGAGGAGGTGGTG GACAAGAGGAGGAGGAGGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49461541	G G	GGCGCCTG others(993): Show GGCGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGAGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCCGGATTCCTGGGTCT GAGGGAGGAGGGGCTGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGC T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	342	0.0029	1000	c.578 others(1013): Show c.578-77_578-76insCGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTC CTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGA GGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGAGCCTGGACTCCTGGGTCTGAGG GAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGC CCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGATTCCTGGGT CTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH7A1_chr5_126536841_126600219	126584671	A A	AAAAAAAA others(993): Show AAAAAAAAAAAAAAAAAGGTTGGCAGGAAAAATCTCTAAGATTTCAGCTC TATTGAAGCTGAAACCTGAAGAATGGGAAAAGTAAGCCATAGGAATATTC TTCCCAGGGATAAGGAAAAAACATATAAGAGGGATCCATGGAAAATAAAA GGGGCTGACTGGGAAGACCAGTATGTCTAAAGCTAGAAGCTTGTAAGGTG TTGGAATCTTACTCCAGGTGCAATGTGAAGTCTTGAATGTCTTTTAAGGT GCAGAATAAGAGGATTTGCTTTATCTTTTAATATCGCTATGTGATAGGTA GAGGATACATTGAAGGGGAAAAGAGTAGAAGCAGGGAGATCAATTAAGAA TGTATTATAGGCCAGGCGCAGTGGTACATGCCTGTAATCCCAGGACTTCG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGCAGATCAAGACCAGCCT GGCCAACACGGGGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGG ACGTTGTGGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTAAGGCAGG AGAATCACTGGAACCCGGGAGGCGGAGGTTGCAGTGAAACGAGATCATGC CACTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAAAA AAAAAAAAAAAGATTATAGTGACTTAGTCTTAAGATTGCAGTGGTGGCCG GGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCAGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGTGAATGGCGTGAACC CGGGAGGTGGAGTTTGCAATAAGCCGAGATTGCGCCACTGCACTCCAGCC TGGGCATCAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAA G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19075.hp1 HG03225.hp2 NA19075.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0027 a0001c0004t0001 a0001c0004t0027	a0001c0004t0001g0114 a0001c0004t0027g0299 a0001c0004t0001g0114 a0001c0004t0027g0299	2	380	0.0053	1000	c.313 others(1015): Show c.313-660_313-659insCTTTTTTTCTTTTTTTTTTTTTTTTGAGAT GGAGTCTCGCTCTGATGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT TATTGCAAACTCCACCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCACCACTGCAATCTTAAGACTAAGT CACTATAATCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGT TGCCCAGGCTGGAGTGCAGTGGCATGATCTCGTTTCACTGCAACCTCCGC CTCCCGGGTTCCAGTGATTCTCCTGCCTTAGCCTCTCAAGTAGCTGGGAT TACAGGTGCCCACCACAACGTCCTGCTAATTTTTGTATTTTTAGTAGAGA CGAGGTTTCCCCGTGTTGGCCAGGCTGGTCTTGATCTGCTGACCTCAGGT GATCCACCCACCTCGGCCTCCCGAAGTCCTGGGATTACAGGCATGTACCA CTGCGCCTGGCCTATAATACATTCTTAATTGATCTCCCTGCTTCTACTCT TTTCCCCTTCAATGTATCCTCTACCTATCACATAGCGATATTAAAAGATA AAGCAAATCCTCTTATTCTGCACCTTAAAAGACATTCAAGACTTCACATT GCACCTGGAGTAAGATTCCAACACCTTACAAGCTTCTAGCTTTAGACATA CTGGTCTTCCCAGTCAGCCCCTTTTATTTTCCATGGATCCCTCTTATATG TTTTTTCCTTATCCCTGGGAAGAATATTCCTATGGCTTACTTTTCCCATT CTTCAGGTTTCAGCTTCAATAGAGCTGAAATCTTAGAGATTTTTCCTGCC AACCTTTTTTTTTTTTTTTT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	3/17			chr5	TogoVar
ASAP2_chr2_9201812_9410678	9406367	T T	TTGTCACT others(993): Show TTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGG CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0157 a0002c0001t0001g0157	1	210	0.0048	1000	c.30 others(1011): Show c.3040_*3041insTGTCACTGAGTGGACCTCTGTGACATCTAGGCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAG GCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTG TGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCC TCAGGCCTTCAGTGTG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		690		chr2	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(993): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCATGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	391	0.0026	1000	c.36 others(1011): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCAT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGC others(993): Show TGGCGGGCGAGTAGACGGTCAGCATGCATAGGGCCGGGGGCGGGGTGTGT ACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0070 a0070	a0070c0122 a0070c0122	a0070c0122t0003 a0070c0122t0003	a0070c0122t0003g0326 a0070c0122t0003g0326	1	338	0.0030	1000	c.300 others(1017): Show c.300-9389_300-9388insCGAGTAGACGGTCAGCATGCATAGGGCC GGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGC GGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(993): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCGGAGGCGGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCA TGCATAGGGCCGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CGTGCGTAGGGGCCGGAGGCGGGGGTGTGTACGGGGCAGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGGC GGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACG G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	338	0.0030	1000	c.300 others(1017): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGG TGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCGGAGGCGGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGG CATGCATAGGGCCGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGGTGTGTACGGGGCAGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG GCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(993): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACACACTGCAATACACAC ACCACACATACACCCCAACACACACACACACACATACAGACACCAATACA TACACCATGCATATACCCCAACACACACACACACCCCCAATACACTCACA ACACATACACCCCAACACACACACACCCCCAATACACACACCACACATAT ACCCCAACACACACACACACACACCCAATACACGCACCACACATATACCC CAACACACACACATACACACACACACAATACATGCACCATGCACATACCC CAACATATACACACCCCCAATACACGCACCACACATACACCAACACACAC ACACACAATACATGCACCACACATATACCACAACACACACACACACACCT CAACATACACACCCCCAATACATGCATCACACATATACCCCAACATACAC ACACATCCCCAATACACGCACTACACATATATCCCCCCACACACACACCC GCAATACACGCACCACACATATACCCCAACACACACACACACACACACCC AATACACACACCACACATATACCCCAACACACACACACCAATACATGCAC CAACACATATACCCCAACATACACACACACCCCCAACACACACCAAAGCA TATACGCCAACACACACACACATACACAGCAATGCATTACCCCAACATAC ACACACAGACACACACACAATACACACACCAATACACACCAATGCATATA CCCCAACATACACACATATAGCAACATACACCCTAACACACATACATACA CATACACACACCAAATAGACACACACCCCAACACACACAACCAACACCCC CACACACCCAACACACACACATACACGTACACACACATCAACACATAACT ATGCACCCCAACACACACACACACACACAACATACACACATATACACATA C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 NA21309.hp1 HG02257.hp1 HG02572.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0026 a0001c0001t0007 a0001c0001t0014 a0001c0001t0026	a0001c0001t0007g0061 a0001c0001t0014g0007 a0001c0001t0026g0022 a0001c0001t0007g0061 a0001c0001t0014g0007 a0001c0001t0026g0022	3	184	0.0163	1000	c.449 others(1017): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTGTTGGGG TATATGTGTGGTGCGTGTATTGCGGGTGTGTGTGTGGGGGGATATATGTG TAGTGCGTGTATTGGGGATGTGTGTGTATGTTGGGGTATATGTGTGATGC ATGTATTGGGGGTGTGTATGTTGAGGTGTGTGTGTGTGTGTTGTGGTATA TGTGTGGTGCATGTATTGTGTGTGTGTGTGTTGGTGTATGTGTGGTGCGT GTATTGGGGGTGTGTATATGTTGGGGTATGTGCATGGTGCATGTATTGTG TGTGTGTGTATGTGTGTGTGTTGGGGTATATGTGTGGTGCGTGTATTGGG TGTGTGTGTGTGTGTGTTGGGGTATATGTGTGGTGTGTGTATTGGGGGTG TGTGTGTGTTGGGGTGTATGTGTTGTGAGTGTATTGGGGGTGTGTGTGTG TGTTGGGGTATATGCATGGTGTATGTATTGGTGTCTGTATGTGTGTGTGT GTGTGTTGGGGTGTATGTGTGGTGTGTGTATTGCAGTGTGTGTGTGTGTG TGTGTGTGTATGTTGGGGTATATGCATGGTGCATGTATTGGTGTGTGTAT GCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(993): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATATTATATATTACATATGTAATATATATATTATATATTACATATGTAAT ATATATTACATATGTAATATATATTATATATGTAATATATATTACATATA TTACATATGTAATATATATTATATATGTAATATATAATATATATTATATA TGTAATATATAATATATATTATATATGTAATATATATTACATATGTAATA TATATTATATATGTAATATATAATATATATTACATATGTAATATATATTA TATATGTAATATATATTATATATGTAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATATTATATATGTAATATATATTATAT ATGTAATATATTACATATATAATATATATTACATATATAATATATATTAT ATATGTAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATATTATATATGTAATATATATTATATATTATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATGTAATATATGTAATATATATTATATAT G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	236	0.0042	1000	c.342 others(1021): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATATTATATATTACATATGTAATATATATTACATATGTAATATATATTAT ATATGTAATATATATTACATATATTACATATGTAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATATTACATATGTAATATATATTATATATGTAATATATAATATA TATTACATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAT TATATATGTAATATATATTATATATGTAATATATTACATATATAATATAT ATTACATATATAATATATATTATATATGTAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATTATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(993): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGTAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGCAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATAATATATATTAT ATATGTAATATATATTACATATGTAATATATATTATATATGTAATATATA ATATATATTATATATGTAATATATATTATATATGTAATATATATTATATA TGTAATATATAATATATATTATATATGTAATATATAATATATATTATATA TGTAATATATATTATATATGTAATATATAATATATATTATATATGTAATA TATATTATATATGTAATATATTACATATATAATATATATTACATATATAA TATATATTATATATGTAATATATATTATATATGTAATATATAATATATAT TATATATGTAATATATATTATATATATAATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATGTAATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATGTAATATATGTAATATATATTATATAT G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0108 a0002c0002t0005g0108	1	236	0.0042	1000	c.342 others(1021): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGTAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGCAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATAATATATATTATATATGTAATATATATTACATATGTAAT ATATATTATATATGTAATATATAATATATATTATATATGTAATATATATT ATATATGTAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATATTATATATGTAATATA TAATATATATTATATATGTAATATATATTATATATGTAATATATTACATA TATAATATATATTACATATATAATATATATTATATATGTAATATATATTA TATATGTAATATATAATATATATTATATATGTAATATATATTATATATAT AATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATGTAATATATGTAATATATATTATATATGTAATATATGTA ATATATATTATATATGTAATATATGTAATATATATTATATATGTAATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(993): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATC CCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCT TCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATC CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCCTCCCTCTCTCCCT CTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCT CTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCT CTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCTTTTCTTCCTCTCCCC CTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCC CTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTC CTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCT CTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCCCTCT CTCCCTCTCTCCGTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCC CTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTC CCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCC TCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCC TCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCT CCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCCTTCTCCTCTCCCCCT CTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCC C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	320	0.0031	1000	c.380 others(1017): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCTC TCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCT CTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTC CCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCC CCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCT CCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTC TCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCT TTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCC CGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCC TCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTC TCCCTCTCCCCCTCTCTCCCTCTCTCCGTCTCCTCCTCTCCCTCTCTCCC TCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCC CCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCC CTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCT CTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTC CCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCC TTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCC TCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(993): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATC CCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCT TCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATC CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTC TCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTC TCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTC TCCCTCACGTCCTCTCTCTCTCCCCCCTCTCCCCCTTTCTTCCTCTCCCC CTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCC CTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTC CTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCCTCCCCC TCTCTCCCTCTCCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTC TCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCC CCTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCT CCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTC CTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCC CTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCC TCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCT CTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCC C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	320	0.0031	1000	c.380 others(1017): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCTC TCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCT CTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTC CCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCC CTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTC CCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCT CTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCTCCCCC TTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCC CGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCC TCTCCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCCCCCTCTCTCCCTCT CTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCC CTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCC CCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCC TTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCC TCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(993): Show CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGC AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAA GGGGGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAG GAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGA AGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0234 a0002c0018t0001g0234	1	344	0.0029	1000	c.85- others(1017): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCC TTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(993): Show TGTACATATATGTGTATATACGTATATACACATATATATGTGTACATATA TGTGTATATACGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACACATATATGTGTACATATATGTGTGTATATGTATATACA CATATATATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATA TGTGTATATACACACACATATACACACATATATGTACACATATATATGTG TATATACATATATACACATATATATGTGTATATACATATATACACATATA TGTACACATATATATGTGTATATACATATATACACATATATGTACACATA TATATGTGTATATACGTATATACACATATATGTACACATATGTGTGTATA TATGTGTGTATATACATATATGTGTACATATATGTGTGTATATGTGTGTG TATATACATATATGTGTATATACACACACATATACACACATATATGTACA CAAATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACGTATATACACATA TATGTACACATATGTGTGTGTATATATGTGTGTATATACATATATGTGTA TATACGTATATACACATGTGTATATACGTATATACACATATATATGTGTA CATATATGTGTGTATATATGTGTGTATATACATATATGTGTACATATATG TGTGTATATGTGTGTGTATATACATATATGTGTATATACACACACATATA CACACATATATGTACACAAATATATGTGTATATACATATATACACATATA TATGTGTATATACATATATACACATATATGTACACATATATATGTGTATA TACGTATATACACATATATGTACACATATGTGTGTGTATATATGTGTGTA TATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	1000	c.19 others(1011): Show c.1988_*1989insGTACATATATGTGTATATACGTATATACACATAT ATATGTGTACATATATGTGTATATACGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACACATATATGTGTACATATATGTGT GTATATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATGTGTATATACACACACATATACACACATATATGT ACACATATATATGTGTATATACATATATACACATATATATGTGTATATAC ATATATACACATATATGTACACATATATATGTGTATATACATATATACAC ATATATGTACACATATATATGTGTATATACGTATATACACATATATGTAC ACATATGTGTGTATATATGTGTGTATATACATATATGTGTACATATATGT GTGTATATGTGTGTGTATATACATATATGTGTATATACACACACATATAC ACACATATATGTACACAAATATATGTGTATATACATATATACACATATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACGTATATACACATATATGTACACATATGTGTGTGTATATATGTGTGTAT ATACATATATGTGTATATACGTATATACACATGTGTATATACGTATATAC ACATATATATGTGTACATATATGTGTGTATATATGTGTGTATATACATAT ATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTAT ATACACACACATATACACACATATATGTACACAAATATATGTGTATATAC ATATATACACATATATATGTGTATATACATATATACACATATATGTACAC ATATATATGTGTATATACGTATATACACATATATGTACACATATGTGTGT GTATATATGTGTGTATATACATATATGTGTATATACGTATATACACATGT GTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15932765	G G	GAGAGGAA others(993): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGAAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19002.hp2 NA18981.hp1 NA19002.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0073 a0001c0004t0002 a0001c0004t0073	a0001c0004t0002g0043 a0001c0004t0073g0022 a0001c0004t0002g0043 a0001c0004t0073g0022	2	386	0.0052	1000	c.198 others(1017): Show c.198+1445_198+1446insGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCACTCACTCATTTCTCTGCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCACTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933505	G G	GAGAGGAA others(993): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAGTGAGTGAGCGAGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGTGAGCGAGCAGAGGAGTG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0356 a0001c0002t0001g0356	1	386	0.0026	1000	c.198 others(1015): Show c.198+705_198+706insGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCTCT CCTCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT TCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCTCGCTCAC TCACTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933961	C C	CGGGCAGA others(993): Show CGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAG T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0050 a0001c0004t0022g0050	1	386	0.0026	1000	c.198 others(1015): Show c.198+249_198+250insACTCACTCATTCCTCTGCCCACTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCC ACTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DVL1_chr1_1330278_1354418	1351426	G G	GGAGGGGG others(993): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGAC GGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGGAG TGAGGAGGGGGCCTGGACCGGGCGGGAGCGACGGGGGGAGTGAGGAGGGG GCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGG GGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCG ACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAG TGAGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGG GCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGG GGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCG ACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAG TGAGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGG GCCTGGACCGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGG GGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCGGGAGCG ACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCGGGAGCGACGGGGGGAG TGAGGAGGGGGCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGG GCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGG GGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCG GTGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGGTGGGGAGAG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0068 a0002c0005t0003g0068	1	344	0.0029	1000	c.-23 others(1011): Show c.-2362_-2361insACTCTCCCCACCGCTCCAGCCCCGTCCAGGCCCC CTCCTCACTCCCCCCACCGCTCCAGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCG TCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCGGTCCAGGCCCC CTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCG TCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCC CTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCG TCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCC CTCCTCACTCCCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCCGCCCGG TCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTGCCCGGTCCAGGCCC CCTCCTCACTCCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCAC TCCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGT CGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCC CCGTCCAGGCCCCCTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		2009		chr1	TogoVar
EVC2_chr4_5557439_5713559	5706317	G G	GATACATA others(993): Show GATACATAGATAGATAGATAGATAGATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATA GATAGATAGATAGATACATAGATAGACAGATAGATAGATAGATAGATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATACATACATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATACACAGATAGATACATACATACATAGATAGATACATAGACAGA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACA TAGATAGATACATAGATAGATACATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATAGATACATACATACATAGATAGATACATAGATAGA TATATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATACATACATAGATAGATACATACATACATAGATAGATAGATACA TACATAGATAGATACATAGATAGATAGATACATAGATAGATACATAGATA CATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGA TACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATA GATAGATAAATACATAGATAGATAGATAGATAGATAGATAGAAACATAGA TAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAAATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATA C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0165 a0002c0007t0002g0165	1	292	0.0034	1000	c.228 others(1017): Show c.228+1968_228+1969insGTATGTATCTATCTATCTATGTATCTAT GTATCTATCTATCTATCTATTTATGTATCTATCTATCTATCTATCTATCT ATGTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTAT CTATCTATCTATCTATCTATCTATCTATGTTTCTATCTATCTATCTATCT ATCTATCTATGTATTTATCTATCTATCTATGTATCTATCTATGTATCTAT CTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCT ATGTATCTATCTATCTATCTATGTATCTATGTATCTATCTATGTATCTAT CTATCTATGTATCTATCTATGTATGTATCTATCTATCTATGTATGTATGT ATCTATCTATGTATGTATCTATCTATCTATGTATGTATGTATCTATCTAT CTATCTATGTATCTATCTATATATCTATCTATGTATCTATCTATGTATGT ATGTATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTAT GTATCTATCTATGTATCTATCTATGTATCTATCTGTGTATGTATCTATCT ATCTATGTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTAT CTATCTATCTATGTATCTATCTATCTGTCTATGTATCTATCTATGTATGT ATGTATCTATCTGTGTATCTATCTATCTATCTATCTATCTATCTATGTAT CTATCTATGTATGTATCTATCTATCTATGTATCTATCTATGTATCTATCT ATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCT ATCTATGTATCTATCTATCTATCTATCTATCTATGTATCTATGTATCTAT CTAGCTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCTATCT ATCTATCTATCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706317	G G	GATACATA others(993): Show GATACATAGATAGATAGATAGATAGATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATA GATAGATAGATAGATAGATACATAGATAGACAGATAGATAGATAGATAGA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATACATACATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATACACAGATAGATACATACATACATAGATAGATACATAGA CAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACA TAGATAGATACATAGATAGATACATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATAGATACATACATACATAGATAGATACATAGATAGA TATATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATACATACATAGATAGATACATACATACATAGATAGATAGATACA TACATAGATAGATACATAGATAGATAGATACATAGATAGATACATAGATA CATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGA TACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAAATACATAGATAGATAGATAGATAGATAGAAACATAGA TAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAAATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATA C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0186 a0002c0007t0001g0186	1	292	0.0034	1000	c.228 others(1017): Show c.228+1968_228+1969insGTATGTATCTATCTATCTATGTATCTAT GTATCTATCTATCTATCTATTTATGTATCTATCTATCTATCTATCTATCT ATGTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTAT CTATCTATCTATCTATCTATCTATCTATGTTTCTATCTATCTATCTATCT ATCTATGTATTTATCTATCTATCTATGTATCTATCTATCTATGTATCTAT CTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCT ATGTATCTATCTATCTATCTATGTATCTATGTATCTATCTATGTATCTAT CTATCTATGTATCTATCTATGTATGTATCTATCTATCTATGTATGTATGT ATCTATCTATGTATGTATCTATCTATCTATGTATGTATGTATCTATCTAT CTATCTATGTATCTATCTATATATCTATCTATGTATCTATCTATGTATGT ATGTATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTAT GTATCTATCTATGTATCTATCTATGTATCTATCTGTGTATGTATCTATCT ATCTATGTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTAT CTATCTATCTATGTATCTATCTGTCTATGTATCTATCTATGTATGTATGT ATCTATCTGTGTATCTATCTATCTATCTATCTATCTATCTATCTATGTAT CTATCTATGTATGTATCTATCTATCTATGTATCTATCTATGTATCTATCT ATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCTATCT ATGTATCTATCTATCTATCTATCTATCTATCTATGTATCTATGTATCTAT CTAGCTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCTATCT ATCTATCTATCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706317	G G	GATACATA others(993): Show GATACATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATACA TAGATACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATA GATAGATAGATAGATAGATACATAGATAGACAGATAGATAGATAGATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATAGATACACAGATAGATACATACATACGTAGATAGATACATAGACAGA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACA TAGATAGATACATAGATAGATACATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATAGATACATACATACATAGATAGATACATAGATAGA TATATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATACATACATAGATAGATACATACATACATAGATAGATAGATACA TACATAGATAGATACATAGATAGATAGATACATAGATAGATACATAGATA CATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACA TAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA GATAGATAAATACATAGATAGATAGATAGATAGATAGATAGATAGAAACA TAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAAATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATA C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0172 a0001c0014t0001g0172	1	292	0.0034	1000	c.228 others(1017): Show c.228+1968_228+1969insGTATGTATCTATCTATCTATGTATCTAT GTATCTATCTATCTATCTATTTATGTATCTATCTATCTATCTATCTATCT ATGTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTAT CTATCTATCTATCTATCTATCTATGTTTCTATCTATCTATCTATCTATCT ATCTATCTATGTATTTATCTATCTATCTATGTATCTATCTATCTATGTAT CTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCT ATCTATGTATCTATCTATCTATGTATCTATGTATCTATCTATGTATCTAT CTATCTATGTATCTATCTATGTATGTATCTATCTATCTATGTATGTATGT ATCTATCTATGTATGTATCTATCTATCTATGTATGTATGTATCTATCTAT CTATCTATGTATCTATCTATATATCTATCTATGTATCTATCTATGTATGT ATGTATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTAT GTATCTATCTATGTATCTATCTATGTATCTATCTGTGTATGTATCTATCT ATCTATGTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTAT CTATCTATCTATGTATCTATCTATCTGTCTATGTATCTATCTACGTATGT ATGTATCTATCTGTGTATCTATCTATCTATCTATCTATCTATCTATCTAT CTATGTATCTATCTATGTATGTATCTATCTATCTATGTATCTATCTATGT ATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATCTATCTATCTATCTATCTGTCTATCT ATGTATCTATCTATCTATCTATCTATCTATGTATCTATGTATCTATCTAG CTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCTATCTATCT ATCTATCTATCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706317	G G	GATACATA others(993): Show GATACATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATACA TAGATACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATA GATAGATAGATAGATAGATACATAGATAGACAGATAGATAGATAGATAGA TAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATA CATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATACA TAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATAGATA GATAGATAGATAGATACACAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGA TAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATAGATACATACATACATAGATAGATACA TAGATAGATATATAGATAGATACATAGATAGATAGATAGATACATACATA CATAGATAGATAGATACATACATAGATAGATACATACATACATAGATAGA TAGATACATACATAGATAGATACATAGATAGATAGATACATAGATAGATA CATAGATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATA GATAGATAGATAAATACATAGATAGATAGATAGATAGATAGATAGAAACA TAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAAATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATA C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0168 a0002c0007t0002g0168	1	292	0.0034	1000	c.228 others(1017): Show c.228+1968_228+1969insGTATGTATCTATCTATCTATGTATCTAT GTATCTATCTATCTATCTATTTATGTATCTATCTATCTATCTATCTATCT ATGTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTAT CTATCTATCTATCTATCTATCTATGTTTCTATCTATCTATCTATCTATCT ATCTATGTATTTATCTATCTATCTATGTATCTATCTATGTATCTATCTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCT ATCTATCTATCTATGTATCTATGTATCTATCTATGTATCTATCTATCTAT GTATCTATCTATGTATGTATCTATCTATCTATGTATGTATGTATCTATCT ATGTATGTATCTATCTATCTATGTATGTATGTATCTATCTATCTATCTAT GTATCTATCTATATATCTATCTATGTATCTATCTATGTATGTATGTATCT ATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTAT CTATGTATCTATCTATGTATCTATCTGTGTATGTATCTATCTATCTATGT ATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTATCTAT CTATGTATCTATCTATCTGTCTATGTATCTATCTATGTATGTATGTATCT ATCTGTGTATCTATCTATCTATCTATCTATCTATCTATCTATGTATCTAT CTATGTATGTATCTATCTATCTATGTATCTATCTATGTATCTATCTATGT ATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCTATCTAT GTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCTATCT ATGTATCTATCTATCTATCTATCTATCTATGTATCTATGTATCTATCTAG CTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCTATCTATCT ATCTATCTATCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706337	G G	GATAGATA others(993): Show GATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGATAGC TAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATA GATACATACATACATAGATAGATACATAGACAGATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATA GATAGATAGATACATACACAGATAGATACATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATACATAGATAGATAGATAGATACATACATACATAGATAGATAGA TAGATACATAGATAGATAGATACATACATACATACATACATAGATAGATA CATACATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGA TAGATACATAGATACATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGA TAGATAGATAAATACATAGATAGATAGATAGATAGATACATAGATAAATA GATAGAAACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAAATA GATAGATAGATAGATACATAGATACATAGATACATAGATAGATAGATACA TACATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATACA TAGATAGATAGATAGATAGATACATAGATAGAGAGATAGATAGATAGATA C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0018 a0018	a0018c0077 a0018c0077	a0018c0077t0002 a0018c0077t0002	a0018c0077t0002g0231 a0018c0077t0002g0231	1	292	0.0034	1000	c.228 others(1017): Show c.228+1948_228+1949insGTATCTATCTATCTATCTCTCTATCTAT GTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCTATGT ATCTATCTATGTATCTATCTATCTATCTATCTATCTATCTATCTATGTAT CTATCTATCTATCTATGTATGTATGTATCTATCTATCTATGTATCTATGT ATCTATGTATCTATCTATCTATCTATTTATGTATCTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCT ATCTATCTATCTATGTTTCTATCTATTTATCTATGTATCTATCTATCTAT CTATCTATGTATTTATCTATCTATCTATGTATCTATCTATCTATCTATCT ATGTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTAT CTATCTATGTATCTATGTATCTATCTATCTATCTATCTATCTATCTATCT ATGTATCTATCTATCTATGTATGTATCTATCTATGTATGTATGTATGTAT GTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTATGTATCT ATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCTATGTATCT ATCTGTGTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTAT CTATCTATGTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGT ATCTATCTATGTATGTATGTATCTATCTATGTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCTATCT ATCTATCTATCTATGTATCTATCTATCTATCTATCTATCTATCTATCTAT CTATGTATCTATGTATCTATCTAGCTATCTATCTATGTATGTATCTATGT ATCTATCTATCTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706317	G G	GATACATA others(993): Show GATACATAGATAGATAGATAGATAGATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATA GATAGATAGATAGATAGATACATAGATAGACAGATAGATAGATAGATAGA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATACATACATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATACACAGATAGATACATACATACATAGATAGATACATAGA CAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACA TAGATAGATACATAGATAGATACATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATAGATACATACATACATAGATAGATACATAGATAGA TATATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATACATACATAGATAGATACATACATACATAGATAGATAGATACA TACATAGATAGATACATAGATAGATAGATACATAGATAGATACATAGATA CATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGA TACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAAATACATAGATAGATAGATAGATAGATAGAAACATAGA TAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAAATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0267 a0004c0020t0001g0267	1	369	0.0027	1000	c.-50 others(1011): Show c.-5064_-5063insATACATAGATAGATAGATAGATAGATAGATAGAT AGATAGATACATAGATACATACATAGATAGATAGCTAGATAGATACATAG ATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGACAGAT AGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATACATACATAGATAGATACATAGATAG ATAGATAGATAGATAGATAGATAGATACACAGATAGATACATACATACAT AGATAGATACATAGACAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACAT ACACAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAG ATACATAGATAGATAGATAGATAGATAGATAGATACATACATACATAGAT AGATACATAGATAGATATATAGATAGATACATAGATAGATAGATAGATAC ATACATACATAGATAGATAGATACATACATAGATAGATACATACATACAT AGATAGATAGATACATACATAGATAGATACATAGATAGATAGATACATAG ATAGATACATAGATACATAGATAGATAGATAGATACATAGATAGATACAT AGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAG ATAGATAGATACATAGATAGATAGATAAATACATAGATAGATAGATAGAT AGATAGAAACATAGATAGATAGATAGATAGATAGATAGATAGATAGATAC ATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATACATAAATAGATAGATAGATAGATACATAGATACATAG ATAGATAGATACATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4883		chr4	TogoVar
EVC_chr4_5706201_5819305	5706317	G G	GATACATA others(993): Show GATACATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATACA TAGATACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATA GATAGATAGATAGATAGATACATAGATAGACAGATAGATAGATAGATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATAGATACACAGATAGATACATACATACGTAGATAGATACATAGACAGA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACA TAGATAGATACATAGATAGATACATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATAGATACATACATACATAGATAGATACATAGATAGA TATATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATACATACATAGATAGATACATACATACATAGATAGATAGATACA TACATAGATAGATACATAGATAGATAGATACATAGATAGATACATAGATA CATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACA TAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA GATAGATAAATACATAGATAGATAGATAGATAGATAGATAGATAGAAACA TAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAAATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0012 a0012	a0012c0037 a0012c0037	a0012c0037t0003 a0012c0037t0003	a0012c0037t0003g0184 a0012c0037t0003g0184	1	369	0.0027	1000	c.-50 others(1011): Show c.-5064_-5063insATACATAGATAGATAGATAGATAGATAGATAGAT AGATAGATAGATACATAGATACATACATAGATAGATAGCTAGATAGATAC ATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGACAGAT AGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAG ATAGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGAT ACATAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATAG ATAGATAGATAGATAGATAGATACACAGATAGATACATACATACGTAGAT AGATACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACAT ACACAGATAGATACATAGATAGATACATAGATAGATACATAGATAGATAG ATACATAGATAGATAGATAGATAGATAGATAGATACATACATACATAGAT AGATACATAGATAGATATATAGATAGATACATAGATAGATAGATAGATAC ATACATACATAGATAGATAGATACATACATAGATAGATACATACATACAT AGATAGATAGATACATACATAGATAGATACATAGATAGATAGATACATAG ATAGATACATAGATACATAGATAGATAGATACATAGATAGATACATAGAT AGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAG ATAGATACATAGATAGATAGATAAATACATAGATAGATAGATAGATAGAT AGATAGATAGAAACATAGATAGATAGATAGATAGATAGATAGATAGATAC ATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATACATAAATAGATAGATAGATAGATACATAGATACATAG ATAGATAGATACATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4883		chr4	TogoVar
EVC_chr4_5706201_5819305	5706317	G G	GATACATA others(993): Show GATACATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATACA TAGATACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATA GATAGATAGATAGATAGATACATAGATAGACAGATAGATAGATAGATAGA TAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATA CATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATACA TAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATAGATA GATAGATAGATAGATACACAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGA TAGATACATAGATAGATACATAGATAGATACATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATAGATACATACATACATAGATAGATACA TAGATAGATATATAGATAGATACATAGATAGATAGATAGATACATACATA CATAGATAGATAGATACATACATAGATAGATACATACATACATAGATAGA TAGATACATACATAGATAGATACATAGATAGATAGATACATAGATAGATA CATAGATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATA GATAGATAGATAAATACATAGATAGATAGATAGATAGATAGATAGAAACA TAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAAATAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0019 a0019	a0019c0050 a0019c0050	a0019c0050t0009 a0019c0050t0009	a0019c0050t0009g0198 a0019c0050t0009g0198	1	369	0.0027	1000	c.-50 others(1011): Show c.-5064_-5063insATACATAGATAGATAGATAGATAGATAGATAGAT AGATAGATAGATACATAGATACATACATAGATAGATAGCTAGATAGATAC ATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGACAGAT AGATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATAG ATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGAT ACATAGATAGATACATAGATAGATAGATACATACATAGATAGATACATAG ATAGATAGATAGATAGATAGATAGATAGATACACAGATAGATACATACAT ACATAGATAGATACATAGACAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGAT AGATACATACACAGATAGATACATAGATAGATACATAGATAGATACATAG ATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATACATACAT ACATAGATAGATACATAGATAGATATATAGATAGATACATAGATAGATAG ATAGATACATACATACATAGATAGATAGATACATACATAGATAGATACAT ACATACATAGATAGATAGATACATACATAGATAGATACATAGATAGATAG ATACATAGATAGATACATAGATACATAGATAGATAGATAGATACATAGAT AGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAC ATAGATAGATACATAGATAGATAGATAAATACATAGATAGATAGATAGAT AGATAGATAGAAACATAGATAGATAGATAGATAGATAGATAGATAGATAC ATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATACATAAATAGATAGATAGATAGATACATAGATACATAG ATAGATAGATACATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4883		chr4	TogoVar
EVC_chr4_5706201_5819305	5706337	G G	GATAGATA others(993): Show GATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGATAGC TAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATA GATACATACATACATAGATAGATACATAGACAGATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATA GATAGATAGATACATACACAGATAGATACATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATACATAGATAGATAGATAGATACATACATACATAGATAGATAGA TAGATACATAGATAGATAGATACATACATACATACATACATAGATAGATA CATACATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGA TAGATACATAGATACATAGATAGATAGATAGATACATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGA TAGATAGATAAATACATAGATAGATAGATAGATAGATACATAGATAAATA GATAGAAACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAAATA GATAGATAGATAGATACATAGATACATAGATACATAGATAGATAGATACA TACATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATACA TAGATAGATAGATAGATAGATACATAGATAGAGAGATAGATAGATAGATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0075 a0001c0009t0006g0075	1	369	0.0027	1000	c.-50 others(1011): Show c.-5044_-5043insATAGATAGATAGATAGATAGATACATAGATACAT ACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAG ATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAG ATAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGAT AGATAGATACATAGATAGATAGATAGATACATAGATAGATACATAGATAG ATAGATAGATACATAGATAGATAGATACATACACAGATAGATACATAGAT ACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATACAT ACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATAC ATACATAGATAGATACATACATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATAGATAGATACATAGATACATAGATAGATAGATAGATAC ATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATACATAGATAGATAGATAAATACATAGATAGATAGATAGATAG ATACATAGATAAATAGATAGAAACATAGATAGATAGATAGATAGATAGAT AGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATACATAAATAGATAGATAGATAGATACATAGATACATAGATACAT AGATAGATAGATACATACATACATAGATAGATAGATAGATACATAGATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGAT AGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGAGAG ATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4863		chr4	TogoVar
EXD3_chr9_137301896_137428162	137355506	A A	AGGGAGGA others(993): Show AGGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAGGAGGAAGGGAG GAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAG GAGGAAGGGAGGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGG AAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAA GGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA AGGAGGAAGAAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAG GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGGAGGAAAGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAA G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0064 a0013c0027t0001g0064	1	82	0.0122	1000	c.758 others(1015): Show c.758-734_758-733insCTTTCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC CTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CCTTCCTCTTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCCTTTCTCCTTCCTC CTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCT TCCTCCTTCCTTCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCC TCCTTCCTCCCTCCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC TTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCC CTTTCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCCTTCCTCCTTCCT CCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCC TCCTTCCTCCCTTCCTCCTTCCTCCCTTCCTCCTCCTCCTTCCTCCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCCTTCCTCCTTCCTCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(993): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	272	0.0037	1000	c.238 others(1021): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(993): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0195 a0001c0001t0005g0195	1	272	0.0037	1000	c.238 others(1021): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
GALNT17_chr7_71127144_71718599	71680111	T T	TCTCCCTT others(993): Show TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTCTC CCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTG TCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTCCCTCTC TCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCC TCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTG TCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTCTCCCTGTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTC C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0074 a0001c0002t0010g0074	1	76	0.0132	1000	c.150 others(1019): Show c.1500+2807_1500+2808insCCCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCTCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTCCTCC CTCCCTCTCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCTCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCT CTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCT GTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCT CTCTTCCTCCCTCCCTCTCTCCCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(993): Show AACACCACCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACC CCCCAACACCACCCCAACACCACCCCCAATACCACCCCCACCACCCCCAA CACCACCCCCAACACCACCCCAACACCACCCCCACACCGCCCACACACCA GCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCC CAACACCACCCCCACCACCACCCCCACACCACCCCCAACACCACCCCCAC CACCACCCCCAACACCACCCCCAACACCACCCCCACCACCCCCACACCAC CCCCAACACCACCCCCAACACCACCCCCACCACCACCCCCAACACCACCC CCACCACCCCCAACACCACCCCCACACCACCCCCACACCACCCCCACACC ACCCCCAACACCACCCCCACACCACCCCCAACACCAGCCCCAACACCAGC CCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCCAA CACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCACACCA CCCCCAACACCACCCCCACCACCACCCCCAACACCACCCCCACCACCCCC ACACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCACACC ACCCCCAACACCAGCCCCAACACCAGCCCCAACACCACCCCAATACCTCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCC ACACCAGCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCACC ACCACCCCCAACACCACCCCCAACACCACCCCCACCACCCCCACACCACC CCCACACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCAC ACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACC ACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0002	1	106	0.0094	1000	c.27 others(1011): Show c.2795_*2796insACACCACCCCAACACCACCCCCAACACCATCCCC AACACCCCAATAACCCCCCAACACCACCCCAACACCACCCCCAATACCAC CCCCACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAC ACCGCCCACACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACC ACCCCAATACCTCCCCAACACCACCCCCACCACCACCCCCACACCACCCC CAACACCACCCCCACCACCACCCCCAACACCACCCCCAACACCACCCCCA CCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCACCACCA CCCCCAACACCACCCCCACCACCCCCAACACCACCCCCACACCACCCCCA CACCACCCCCACACCACCCCCAACACCACCCCCACACCACCCCCAACACC AGCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCC CCAACACCACCCCAACACCACCCCCACACCACCCCCACACCACCCCCAAC ACCACCCCCACACCACCCCCAACACCACCCCCACCACCACCCCCAACACC ACCCCCACCACCCCCACACCACCCCCACACCACCCCCACACCACCCCCAA CACCACCCCCACACCACCCCCAACACCAGCCCCAACACCAGCCCCAACAC CACCCCAATACCTCCCCAACACCACCCCCAACACCACCCCAACACCACCC CCAACACCATCCCCCACACCAGCCCCAACACCATCCCCAACACCACCCCC AACACCACCCCCACCACCACCCCCAACACCACCCCCAACACCACCCCCAC CACCCCCACACCACCCCCACACCACCCCCACACCACCCCCACACCACCCC CAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAAC ACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCA CCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
HTRA3_chr4_8264754_8312098	8294667	T T	TCCACTTA others(993): Show TCCACTTATCCACCCATCCACCCACCCATCCATCTATCCATTCACCCATC CATTCACTCATTCATCCGTCCATCCATCCACCCACCCACCCATCCACCCA CCTATCCATCCATCTATCCATTCACCCACCCATCCATCCATCCATCCACC CATCCATCCAATCATCCATTCACCCACCCACTCATCCATCCATCCATCCA CCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACC CACCCATTTACCATCCATCCATCCATCCACCTATCCACCCACCCATCCAT CCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACTCATCC ATCCATCCATCCATCCATCCACCATCCATCCACCCACACCTTTCTATCCA TCCATCTACCCACCCCCACCCATCTTTCCACCCACCCATATACCATCCAT CCATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCT ATCCATCCATTCACCCATCCATTCACTCATTCATCCATCCATCCATCTGC CCACCCAGCCACCCATCCATCCACCCACCCACCCATCCACCCACACACCC ATCCATCCACCCACCCATTTACCATCCATCCATCCATCCATCCATCCACT TATCCACCCATCCACCCACCCATCCATCTATCCATCCATTGACCCATCCA TTCACTCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCATCCATC CACCCACCCATCCACCCACACACCCATCCATCCACCCACCTATCCATCCA TCTATCCATTCACCCACCCACCCATCCATCCATCCACCCACCCATCCATC CAATCATCCATTCATCCATCCACTCATCCATCCATCCATCCATCCATCCA TCCATCCATCCACCATCCATCCACCCACACCTTTCTACCCATCTACCCAT CCACCCACCCACCCATCTTTCCATCCACCCATCTTTCCACCTACCCTTTT A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	388	0.0026	1000	c.105 others(1017): Show c.1051+469_1051+470insCTTATCCACCCATCCACCCACCCATCCA TCTATCCATTCACCCATCCATTCACTCATTCATCCGTCCATCCATCCACC CACCCACCCATCCACCCACCTATCCATCCATCTATCCATTCACCCACCCA TCCATCCATCCATCCACCCATCCATCCAATCATCCATTCACCCACCCACT CATCCATCCATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACC CCCACCCATCTTTCCACCCACCCATTTACCATCCATCCATCCATCCACCT ATCCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCAT TCACCCACCCACTCATCCATCCATCCATCCATCCATCCACCATCCATCCA CCCACACCTTTCTATCCATCCATCTACCCACCCCCACCCATCTTTCCACC CACCCATATACCATCCATCCATCCATCCATCCATCCATCCACTTATCCAC CCATCCACCCACCCATCTATCCATCCATTCACCCATCCATTCACTCATTC ATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCCAC CCATCCACCCACACACCCATCCATCCACCCACCCATTTACCATCCATCCA TCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCATCTATC CATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATCCGCCCA CCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCATCCATC CACCCACCTATCCATCCATCTATCCATTCACCCACCCACCCATCCATCCA TCCACCCACCCATCCATCCAATCATCCATTCATCCATCCACTCATCCATC CATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCACACCT TTCTACCCATCTACCCATCCACCCACCCACCCATCTTTCCATCCACCCAT CTTTCCACCTACCCTTTTACCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406367	T T	TTGTCACT others(993): Show TTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGG CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGT G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0215 a0001c0001t0215	a0001c0001t0215g0103 a0001c0001t0215g0103	1	276	0.0036	1000	c.46 others(1009): Show c.466_*467insCACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGA GGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGT CACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACG AGATGTCACAGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGC CTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGA GGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAG GCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACA CTGAAGGCCTGAGGAAGCCGAGATGTCACAGAGGTCCACTCAGTGACAAA CACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGT GACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCA CTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGA GGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCGAGATGT CACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCG AGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGG AAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGC CTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACT GAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACA CACACTGAAGGCCTGAGGAAGCCGAGATGTCACAGAGGTCCACTCAGTGA CAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACT CAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGG TCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	466		chr2	TogoVar
KIRREL3_chr11_126418358_127005770	126799420	C C	CTGTGTGC others(993): Show CTGTGTGCATGTATCTGTGTGCATGCATCTCTGTGTGCATGTGTGTACCT GTAGGCATGTGCATGTGTGTATGTGTGTGTGCATGTGTGTATCTCTGTGT GTGCATGTGTGTATCTGTGTGCATGTGTGTATCTGTGTGCATGTGCATGT GTATATCTGTATGTGTGCATGTGTGTATCACTGTGTGCATGTATGTGTCT GTGTGTGAATGTGTGTATCTGTGTATGTGCATGTAGCTGTGTGTGTGCAT GTATCTGTGTGCATGTGGTATCTGTGTGTGCGCATGTGTATCTGCATATG TGTGTATCCATGTGCACGTGTGTATCTGTGTGCATGTGCATGTGATGTGT GTATCTGTGTGTGCATATATCTGTGTGTGCATGTGTGTATCTGTGTGTGC ATATGTGTATCTGCATATGTGCATGTATCTATGTGTGCATGTGTGTGTCT GTGTGTGCATGTGCATGTATCTGTGCATGTGCATGTATCTGTGCATGTGT GTATCTGTGTGCATGTGCACGTGGTATCTGGGTGTGTGCGTGTGTGTGCA TGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTATCTA TGTGTGCATGTGTGTGTCTCTGTGTGCATGTGCATGTATCTGTGCATGTG CATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCTGG GTGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTATCT GTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTGC ATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTG TATCTGTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGT GTGTATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGT GCATGTATCTGTGTGTGCGCATGTATCTGTGTTTGCATGTGTGTATCTGT G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01106.hp2 others(14): Show HG00140.hp2 HG00738.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01928.hp1 HG01978.hp2 HG02080.hp1 HG02083.hp1 HG04228.hp1 NA18962.hp1 NA18984.hp2 NA19070.hp2 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0004c0007 a0005c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0043 a0001c0002t0002 a0001c0002t0044 a0001c0003t0001 a0001c0003t0006 a0003c0006t0005 a0004c0007t0003 a0005c0008t0001	a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0090 others(14): Show a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0090 a0001c0001t0003g0104 a0001c0001t0004g0101 a0001c0001t0007g0080 a0001c0001t0013g0066 a0001c0001t0017g0069 a0001c0001t0043g0109 a0001c0002t0002g0100 a0001c0002t0044g0111 a0001c0003t0001g0078 a0001c0003t0006g0015 a0001c0003t0006g0022 a0003c0006t0005g0014 a0004c0007t0003g0113 a0005c0008t0001g0108	17	114	0.1491	1000	c.55+ others(1019): Show c.55+201034_55+201035insCACAGATACACACATGCAAACACAGA TACATGCGCACACACAGATACATGCACACACAGATATGTGTACACACAGA TACACACATGCACACATGAATACACACACGCAGATACATGCACACACACA GATACCACGTGCACACACACAGATACACACATGCACACACACAGATACAC ACATGCACAACACAGATACGCACATGCACACACAGATATACACATGCACA CACACAGATACACACATGCACACACAGATACACATATGCACACACAGATA CACACATGCACACACATGCACACACCCAGATACCACGTGCACATGCACAC AGATACACACATGCACAGATACATGCACATGCACAGATACATGCACATGC ACACAGAGACACACACATGCACACATAGATACATGCACATATGCAGATAC ACATATGCACACACAGATACACACATGCACACACACGCACACACCCAGAT ACCACGTGCACATGCACACAGATACACACATGCACAGATACATGCACATG CACAGATACATGCACATGCACACACAGACACACACATGCACACATAGATA CATGCACATATGCAGATACACATATGCACACACAGATACACACATGCACA CACAGATATATGCACACACAGATACACACATCACATGCACATGCACACAG ATACACACGTGCACATGGATACACACATATGCAGATACACATGCGCACAC ACAGATACCACATGCACACAGATACATGCACACACACAGCTACATGCACA TACACAGATACACACATTCACACACAGACACATACATGCACACAGTGATA CACACATGCACACATACAGATATACACATGCACATGCACACAGATACACA CATGCACACAGATACACACATGCACACACAGAGATACACACATGCACACA CACATACACACATGCACATGCCTACAGGTACACACATGCACACAGAGATG CATGCACACAGATACATGCACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(993): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGT GATGACGGTGATGGTGGGGGTGATGATGGTGATGGTGATGGTGATGGTGA TGGTGATGGTGATGGTGATGGTGATGGTGATGGTGGGGGTGGTGATGGTG GGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTAATGACGGTGATGGTGGG GGTGATGACGGTGGGGCTGGGGGTGATGACGGTGGGGGTGATGACGGTGA TGATGGGGGTGGGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGGTGA TGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGG GTGATGATGGTGGGGGTGGGGGGGGTGATGATGGTGAGGGTGATGATGGT GGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGG TGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGATGGCG GTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGATGATGGCGGG GGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GATGGTAGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGATGGTGATGGTAGGGGTGATGATGGTGGGG GTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGGTGGG GGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGG TGGGGGTGGGGGTGGGGGTGATGACGGTGGGAGTGGGGGTGATGACGGTG G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0079 a0079	a0079c0063 a0079c0063	a0079c0063t0001 a0079c0063t0001	a0079c0063t0001g0032 a0079c0063t0001g0032	1	186	0.0054	1000	c.956 others(1017): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACTCCCACCGT CATCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCA TCACCCCCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACC CTCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCCTACCATCAC CATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCCCCACCC CCACCATCATCACCCCTACCATCACCGTCATCACCCCCACCCCCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCGCCATCACCGTCATCACCCCCCGCCATCATCGTCATCACCCCCACC GCCATCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCAT CACCGTCATCACCCCCACCCCCACCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCACC CCCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCG TCATCACCCCCACATCACCGTCATCACCCCCCCCACCCCCATCATCACCG TCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCCACCGTCATCA CCCCCAGCCCCACCGTCATCACCCCCACCATCACCGTCATTACCCCCACC CCCACCATCACCACCCCCACCCCCACCATCACCACCCCCACCATCACCAT CACCATCACCATCACCATCACCATCACCATCACCATCACCATCACCATCA TCACCCCCACCATCACCGTCATCACCCCCACCATCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCAC CATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088874	T T	TGGCCAGG others(993): Show TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGCCAGTATCTGTGCAGAGTGGCCAGGAT CTGTGAAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGTAT CTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGG AGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTCTGCAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG02622.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	102	0.0196	1000	c.-46 others(1011): Show c.-4656_-4655insTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCCTGGCCACTCTTCACAGATC CTGGCCACTCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCAGAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTTCACAGATC CTGGCCACTCTGCACAGATCCTGGCCTCCTTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCTCCTTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCC TGCACAGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTTCACAGATC CTGGCCACTCTGCACAGATACTGGCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCATGGCCTCCCTGCACGGATC CTGGCCACTCTTCACAGATCCTGGCCACTCTGCACAGATACTGGCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4477		chr20	TogoVar
MKRN2_chr3_12552087_12588713	12563712	A A	ACTCCTGA others(993): Show ACTCCTGACCTCAAGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGA TTACGGGTGTGAGCCACCATGCCCTGCTGGGCCCCAGATTTTTAAAGTAC ATGTATGTATATATTTATAATCTTTTACCAAAATGAGATCATACTGTATA TACTGGTTTAAAAAATTTTATGTGGGCTGGGCGCAGTAGCTCACTTCTGT AATCCCAGCACTCTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGT TCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATAC AAAAATTAGCTGGGCGTGGTGGCGGGTGCTTGTAATCCCAGCTACTTCGG AGGCTGAGGCAGGTGAACGCTTGAACTTGGGAGGCGGAGGTTGCAGTGAG CCAAGATCATGTCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCAT CTCAAAAAAAAAAAAAAATCATTGTAAAATTTCCATAAAATTTACCATCT TAACCATTTTTAAGTTATAGTTCTGTCACGTGCATTCACATTGTTGTGTA ACCAATCTCCAGAGCTCTTTATCTTGCATAACTGAAACTCTGTACTACCC ATTAAAAAACTTCCATTTCTCCCATCCCCAGCCTCTGACACCTGGCATTC GACTGTCTGTCCCTATGAATTTGACTACTCTAGGGACCTCACAGAAGTGG AGTCGTGACTGGTTTATTTTACTTAGCGTCATGTCCTCAAGGTTCATGCA TGTTGCAGCGTGTGTCAGAATCACCTTTCTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTTGTAGTGCAGTGGCGCAATCGTGGCCC ACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTT GTATTTTTCATAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTCTCTA T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01167.hp2 others(6): Show HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01943.hp2 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0006g0004 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0006g0004 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0002t0001g0133	9	328	0.0274	1000	c.27- others(1015): Show c.27-5151_27-5150insAGTGATCTACCTGCCTCAGCCTCCCAAAGT GCTGGGATTACGGGTGTGAGCCACCATGCCCTGCTGGGCCCCAGATTTTT AAAGTACATGTATGTATATATTTATAATCTTTTACCAAAATGAGATCATA CTGTATATACTGGTTTAAAAAATTTTATGTGGGCTGGGCGCAGTAGCTCA CTTCTGTAATCCCAGCACTCTGGGAGGCCAAGGTGGGCAGATCACGAGGT CAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTA AAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCTTGTAATCCCAGCT ACTTCGGAGGCTGAGGCAGGTGAACGCTTGAACTTGGGAGGCGGAGGTTG CAGTGAGCCAAGATCATGTCACTACACTCCAGCCTGGGTGACAGAGCAAG ACTCCATCTCAAAAAAAAAAAAAAATCATTGTAAAATTTCCATAAAATTT ACCATCTTAACCATTTTTAAGTTATAGTTCTGTCACGTGCATTCACATTG TTGTGTAACCAATCTCCAGAGCTCTTTATCTTGCATAACTGAAACTCTGT ACTACCCATTAAAAAACTTCCATTTCTCCCATCCCCAGCCTCTGACACCT GGCATTCGACTGTCTGTCCCTATGAATTTGACTACTCTAGGGACCTCACA GAAGTGGAGTCGTGACTGGTTTATTTTACTTAGCGTCATGTCCTCAAGGT TCATGCATGTTGCAGCGTGTGTCAGAATCACCTTTCTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGTAGTGCAGTGGCGCAATC GTGGCCCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAA TTTTTTTGTATTTTTCATAGAGACGGGGTTTCACCGTGTTAGCCGGGATG GTCTCTATCTCCTGACCTCA	MKRN2	ENSG00000075975.17	transcript	ENST00000170447.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
MKRN2_chr3_12552087_12588713	12563712	A A	ACTCCTGA others(993): Show ACTCCTGACCTCAAGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGA TTACGGGTGTGAGCCACCATGCCCTGCTGGGCCCCAGATTTTTAAAGTAC ATGTATGTATATATTTATAATCTTTTACCAAAATGAGATCATACTGTATA TACTGGTTTAAAAAATTTTATGTGGGCTGGGCGCAGTAGCTCACTTCTGT AATCCCAGCACTCTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGT TCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATAC AAAAATTAGCTGGGCGTGGTGGCGGGTGCTTGTAATCCCAGCTACTTCGG AGGCTGAGGCAGGTGAACGCTTGAACTTGGGAGGCGGAGGTTGCAGTGAG CCAAGATCATGTCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCAT CTCAAAAAAAAAAAAAAATCATTGTAAAATTTCCATAAAATTTACCATCT TAACCATTTTTAAGTTATAGTTCTGTCACGTGCATTCACATTGTTGTGTA ACCAATCTCCAGAGCTCTTTATCTTGCATAACTGAAACTCTGTACTACCC ATTAAAAAACTTCCATTTCTCCCATCCCCAGCCTCTGACACCTGGCATTC GACTGTCTGTCCCTATGAATTTGACTACTCTAGGGACCTCACAGAAGTGG AGTCGTGACTGGTTTATTTTACTTAGCGTCATGTCCTCAAGGTTCATGCA TGTTGCAGCGTGTGTCAGAATCACCTTTCTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTTGTAGTGCAGTGGCGCAATCGTGGTCC ACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTT GTATTTTTCATAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTCTCTA T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	328	0.0031	1000	c.27- others(1015): Show c.27-5151_27-5150insAGTGATCTACCTGCCTCAGCCTCCCAAAGT GCTGGGATTACGGGTGTGAGCCACCATGCCCTGCTGGGCCCCAGATTTTT AAAGTACATGTATGTATATATTTATAATCTTTTACCAAAATGAGATCATA CTGTATATACTGGTTTAAAAAATTTTATGTGGGCTGGGCGCAGTAGCTCA CTTCTGTAATCCCAGCACTCTGGGAGGCCAAGGTGGGCAGATCACGAGGT CAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTA AAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCTTGTAATCCCAGCT ACTTCGGAGGCTGAGGCAGGTGAACGCTTGAACTTGGGAGGCGGAGGTTG CAGTGAGCCAAGATCATGTCACTACACTCCAGCCTGGGTGACAGAGCAAG ACTCCATCTCAAAAAAAAAAAAAAATCATTGTAAAATTTCCATAAAATTT ACCATCTTAACCATTTTTAAGTTATAGTTCTGTCACGTGCATTCACATTG TTGTGTAACCAATCTCCAGAGCTCTTTATCTTGCATAACTGAAACTCTGT ACTACCCATTAAAAAACTTCCATTTCTCCCATCCCCAGCCTCTGACACCT GGCATTCGACTGTCTGTCCCTATGAATTTGACTACTCTAGGGACCTCACA GAAGTGGAGTCGTGACTGGTTTATTTTACTTAGCGTCATGTCCTCAAGGT TCATGCATGTTGCAGCGTGTGTCAGAATCACCTTTCTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGTTGTAGTGCAGTGGCGCAATC GTGGTCCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAA TTTTTTTGTATTTTTCATAGAGACGGGGTTTCACCGTGTTAGCCGGGATG GTCTCTATCTCCTGACCTCA	MKRN2	ENSG00000075975.17	transcript	ENST00000170447.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
MKRN2_chr3_12552087_12588713	12563768	G G	GTGAGCCA others(993): Show GTGAGCCACCATGCCCTGCTGGGCCCCAGATTTTTAAAGTACATGTATGT ATATATTTATAATCTTTTACCAAAATGAGATCATACTGTATATACTGGTT TAAAAAATTTTATGTGGGCTGGGCGCAGTAGCTCACTTCTGTAATCCCAG CACTCTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAATTA GCTGGGCGTGGTGGCGGGTGCTTGTAATCCCAGCTACTTCGGAGGCTGAG GCAGGTGAACGCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCCAAGATC ATGTCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAA AAAAAAAAAAAATCATTGTAAAATTTCCATAAAATTTACCATCTTAACCA TTTTTAAGTTATAGTTCTGTCACGTGCATTCACATTGTTGTGTAACCAAT CTCCAGAGCTCTTTATCTTGCATAACTGAAACTCTGTACTACCCATTAAA AAACTTCCATTTCTCCCATCCCCAGCCTCTGACACCTGGCATTCGACTGT CTGTCCCTATGAATTTGACTACTCTAGGGACCTCACAGAAGTGGAGTCGT GACTGGTTTATTTTACTTAGCGTCATGTCCTCAAGGTTCATGCATGTTGC AGCGTGTGTCAGAATCACCTTTCTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTTGTAGTGCAGTGGCGCAATCGTGGCCCACTGCA AGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTT TTCATAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTCTCTATCTCCT GACCTCATGATCCGCCTGCCTCGGCCTCCCTAAATGCTGGGATTACAGGC A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	328	0.0031	1000	c.27- others(1015): Show c.27-5097_27-5096insTGCCCTGCTGGGCCCCAGATTTTTAAAGTA CATGTATGTATATATTTATAATCTTTTACCAAAATGAGATCATACTGTAT ATACTGGTTTAAAAAATTTTATGTGGGCTGGGCGCAGTAGCTCACTTCTG TAATCCCAGCACTCTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAG TTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATA CAAAAATTAGCTGGGCGTGGTGGCGGGTGCTTGTAATCCCAGCTACTTCG GAGGCTGAGGCAGGTGAACGCTTGAACTTGGGAGGCGGAGGTTGCAGTGA GCCAAGATCATGTCACTACACTCCAGCCTGGGTGACAGAGCAAGACTCCA TCTCAAAAAAAAAAAAAAAAATCATTGTAAAATTTCCATAAAATTTACCA TCTTAACCATTTTTAAGTTATAGTTCTGTCACGTGCATTCACATTGTTGT GTAACCAATCTCCAGAGCTCTTTATCTTGCATAACTGAAACTCTGTACTA CCCATTAAAAAACTTCCATTTCTCCCATCCCCAGCCTCTGACACCTGGCA TTCGACTGTCTGTCCCTATGAATTTGACTACTCTAGGGACCTCACAGAAG TGGAGTCGTGACTGGTTTATTTTACTTAGCGTCATGTCCTCAAGGTTCAT GCATGTTGCAGCGTGTGTCAGAATCACCTTTCTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGTTGTAGTGCAGTGGCGCAATCGTGG CCCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTT TTTGTATTTTTCATAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTCT CTATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCTAAATGCTGGG ATTACAGGCATGAGCCACCA	MKRN2	ENSG00000075975.17	transcript	ENST00000170447.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NFATC1_chr18_79390930_79534323	79532257	T T	TCCCCCGC others(993): Show TCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0269 a0002c0002t0001g0269	1	322	0.0031	1000	c.46 others(1011): Show c.4680_*4681insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCC TGTCTCCGCCTGCAGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2935		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532291	C C	CTGCAGCC others(993): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0065 a0001c0008t0002g0065	1	322	0.0031	1000	c.47 others(1011): Show c.4714_*4715insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2969		chr18	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(993): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGC GATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACA GTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGG GCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATG GGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGCGATGGGCAAGGAC AGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCGGGGGAT GGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGCGGGGGATGGGCAG GGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAG TGCGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGCGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGTTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTG A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0008 a0007c0022t0008	a0007c0022t0008g0009 a0007c0022t0008g0010 a0007c0022t0008g0009 a0007c0022t0008g0010	2	324	0.0062	1000	c.141 others(1017): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCCAACACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCC CAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCGCCCCACTGTCCCT GCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCATCGCCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCC CTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ACCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(993): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGAGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGG GGGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGG GGGAGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGAGGAG GTGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAGGGGGGGAGGAGGGGAG GGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGG GAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGG AGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGGGAGGAGGGGAAGAAG GGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAGGGGGGAGGGGAGGA GGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAG GAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGA AGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGAGGGG TGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGG GTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGG G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0119	1	208	0.0048	1000	c.279 others(1015): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCCCCTCTCCCCTCCCC ATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCC CTCCCCCTTCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCTCCCCCTTCCTCTCCCCTCCCCTTCCCCTCC CCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTT CTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(993): Show AGAAGAGAGGGGAGGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAA GGAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGG GGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGA GGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGAGGGG AGGAAGGGGGAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAG GGGAGGGGGGAGGGGGGAGGGGGGAGGGGAGGAGGTGGGAGGGGGAGGGG AGGATGGGGAGGGGAGAAGGGGGGGGGAGGAGGGGAGGGGAGGAGGGGGA GGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGG AGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGGGAGGAGGGGAAGAAG GGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAGGGGGGAGGGGAGGA GGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAG GAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGA AGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGAGGGG TGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGG GTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGG G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	208	0.0048	1000	c.279 others(1015): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCCC CCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCC TCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCC CTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTC TCCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
OPRL1_chr20_64075082_64105633	64088874	T T	TGGCCAGG others(993): Show TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGCCAGTATCTGTGCAGAGTGGCCAGGAT CTGTGAAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGTAT CTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGG AGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTCTGCAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0033 a0001c0001t0015g0032 a0001c0001t0014g0033 a0001c0001t0015g0032	2	66	0.0303	1000	c.-18 others(1019): Show c.-184-3085_-184-3084insATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGTATCTGT GCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCCGTGCAGGGAGGC CATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGCCAGTATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGGGAGGGCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTCTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGCCAGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(993): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGT ATATGTGTATATATGCATATATATGTATATGTGTGTATATATACATATAT ATGTATATGTATATGTGTGTATATATACATATATATGTATATGTATATGT GTATATATACATATATGTATATGTATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATGTATATGCATGTGTGTAT ATATACATATATATGTATATGCATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTAAATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTGTATATACATATATATGTATATGCATATGTGT GTATATACATATATATGTATATGCATATGTGTGTATATATACATATATAC ATATATATGCATATATGTGTATATACACATATACATATATATGCATATAT GTGTGTATATATACATATACATATATATGCATATATGTGTGTATATATAC ATATATATGCATATATGTGTGTATATATACATATACATATATATGCATAT ATGTGTATATATACACATATATATGCATATATGTGTATATATACACATAT ATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	456	0.0022	1000	c.31 others(1011): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGTATATGTGTATATATGCATATATATGTATATGTGTG TATATATACATATATATGTATATGTATATGTGTGTATATATACATATATA TGTATATGTATATGTGTATATATACATATATGTATATGTATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATGTA TATGCATGTGTGTATATATACATATATATGTATATGCATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTAAATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTGTATATACATATATATG TATATGCATATGTGTGTATATACATATATATGTATATGCATATGTGTGTA TATATACATATATACATATATATGCATATATGTGTATATACACATATACA TATATATGCATATATGTGTGTATATATACATATACATATATATGCATATA TGTGTGTATATATACATATATATGCATATATGTGTGTATATATACATATA CATATATATGCATATATGTGTATATATACACATATATATGCATATATGTG TATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATA CACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PFKFB3_chr10_6197932_6240532	6210924	A A	AGTCTTGA others(993): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0026 a0001c0001t0030g0026	1	432	0.0023	1000	c.77- others(1015): Show c.77-2691_77-2690insAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(993): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0180 a0001c0001t0046g0180	1	332	0.0030	1000	c.112 others(1017): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(993): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGG GGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAG GGGGGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGGGGG AGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAG AGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAG AGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAG AGGGCGAGGGCGAGAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCG AGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTG AGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAG AGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAG TGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAG AAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAA A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0085 a0004c0009t0001g0085	1	308	0.0033	1000	c.371 others(1017): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCCTCTCCCCCTCTCCCCC TCTCCCCCTCCCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTC CCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCC CTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCC TCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCC CCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCC TCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCA CTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCT CTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)