Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(1005): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC TGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0167 a0001c0001t0020g0167	1	330	0.0030	-1012	c.970 others(19): Show c.970-21767_970-20756del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CCL26_chr7_75764538_75777211	75764767	CAGGCAGG others(1004): Show CAGGCAGGAAGTCCTGGAGAATTAATACTCACCCCTGCCCCACCACATCA ACCATCAGCCAATGACTGCCTGGAGTTGGTGTATAAATACCCTTGCTCGG CCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGG CGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTG AAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCAGGAGTGGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAT ACCCTTGCTCCCTGGCCCCGTGGGTGGGGCTAACTCTGAGACGTGGGTTA TACATCATTGCCCAGAGCTCCTCAACACCGTTAAGCACTGTAGGCCACAT TGATGCCTCGCTTGATAATACACACTTATTGGAGGCTTTCCCTTTTCTGT CTCACGTCCCCACGCCCTAGTGGTGTCTCCTGAGATCACCTTCAAAACAT TACATGCAAATTATTATCTTAAGGTTTATTTCTGGGGAAACAACATCTAA AACATCATCCAAGACCTGAGATAAAAAATTAAGAAGATTGGACTTTGAGC AGTAAGTGCTTCCTAAATGCCAAGTACTAACAGCCAATAGCTGTCATGAA TGATTTTGTATTTTTACAATGTAAATGTAAATAAGAATCGCTTGAACCTA GGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTG GGCAACAGAATGAGACTACATCTTAAAAAAAAAAAAAAACCGGGTCCGGT GGCTCATGCCTACAATCTCAGCACTTTGGTTTGGGAGGCCAAGGCGGGTG GATCACCTGAGGTCAGGAGTTTGAGACCAGCATGACCAACGCGGTGAAAT CCCGTCTCTACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	424	0.0047	-1011	c.39 others(11): Show c.3915_*4925del		CCL26	ENSG00000006606.9	transcript	ENST00000005180.9	protein_coding					4770		chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805443	TCCCTCCC others(1004): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCT AGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC CTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0110	1	314	0.0032	-1011	c.12 others(11): Show c.1278_*2288del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1157		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805443	TCCCTCCC others(1004): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCT AGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC CTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	319	0.0031	-1011	c.-38 others(11): Show c.-3834_-2824del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3749		chr2	TogoVar
ADARB2_chr10_1172313_1742525	1235637	CCCCTCTG others(1003): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCT TTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCG AGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTC CCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGG ATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGA CGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTG TAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTG GCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGC CATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGA TTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCC CCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCC TTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	106	0.0094	-1010	c.136 others(19): Show c.1362-2802_1362-1793del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
GATAD2B_chr1_153799725_153927972	153884919	GCTAATTT others(1003): Show GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGG CTGGTCTCAAACTACTGGCCTGAAGAGATCCTCCCGCTTCGGCCTCCCAA AGTGCTGAGATTACAGGTGTGAGCCAATGTGCCCGGCCCTGTTCTCCATC TTCTGGATATGGAAATTAATTCAGTGAAATTTTAAAAAGCTTAAATGAAG TCACTCATACAGCTCACAATTAGAGGCTGGCTCCAAAGCCCATATGCTTT CCACTATACCACGATGCCTTGAGCATTTCTCAGCACTCAAAAGCCCAGTT CTCCAGGGTAACCATGCTTGCCTTGCCAATCTCCACTTTACCCACTGGAT TAAAGAAAATATTAGCCAAATATGATGGAAGTAAAAACACATAAAGTCTC TGACAGACATGTATGATCTCCACTCATAGATGATTTCACCCAGGACTACT TCTGAAAAGCTAAGGACATGAGCTTCAAGTCAGTGACAAGTAAAGGAAAA ATATTTAAATTTTAAAAAAGGGGCTGGGCATGGTGGCTCACACTTGCAAT CCTAGCACTTTGGGAGGCAGAGGCAGGTGGATCATCTGAGGTTAGGAGTT CGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACA AAAACTAGCTGAGTGTGGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGAGATTGAGACCATCC TGGCTAACATGGTGAAACCCCATCTCTACTAAAAAGACAAAAAAATTAGC CGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGC AGAAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGACGG CGCCACTGCTCTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCCAAAAA AAAAAAAAAAAAAGGAAGACTAAAGATCTAAAGATGTACAACCTAGATAC AAAAAGAATTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp2 HG02280.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0161 a0001c0001t0016g0162 a0001c0001t0016g0161 a0001c0001t0016g0162	2	349	0.0057	-1010	c.-2+ others(17): Show c.-2+36804_-2+37813del		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346253	CGAGAGCA others(1003): Show CGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACC TCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACC CAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTC TGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCG GGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAG AGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTC TGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAG CAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGG AGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAG CAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAG GACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCG GACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTG GCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGA CCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGA CCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGC CGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	288	0.0035	-1010	c.466 others(17): Show c.466-2304_466-1295del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
TMEM41B_chr11_9275654_9319593	9302093	GCCTCCCG others(1003): Show GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGA ACTACAGACACCTGCCACGATGCCCGGCTAATTTTTTTTTGTATTTTTAG TAGGGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTATCTCCTGATCT TGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCATAGCGCCCGGCATTATTTTTCTCTTGTTTTAACAATCTTCCTTTTTT CCTAGTTTAAACTGATGTCTATTCCTTTCAACCAAAAAGTCTTGACTAAA TAAAAGATGAGCTTCATTTTTATCCCTTGTCTCACTACAACAATTGGCAT TAGTAAGATTTTGCTGATTTTTTTACCCCCGCAAGAGACAGGGTCTCCCT ATGTTGCCGAGGCTGGACTTGAACTCCTGGGCTCCAGCAATCCTCCTACT TCAGCCCCTCAAGTAGCTGGCACTACAGGCATGTAACACTGAGCCCTGAC TAGATATTACTAAATTCTATGTTGAACACATAGAGAAATAGAAACCAACT AGCTCCTTGCTATTCAAAGAATGTTTGGTAGACTATATGAATCAGCATTA TCAGGAAGCTTGCTGGAAATTCAGATTCCCACTGAAGCAAAAATCTGCAT TTTAATGATACTCGTGATCTTCATGCACATTAAAGTTTGAAAAGCTAAAA TCTGGCCCACTTTTACAAGTAAGAGGCCCAAAGAAGAAGGGTATACTATT TTTTAAAAAAAAATCCTGAGCCAGAGTGGTGGTGGTGTACACCTATAGTC CCAACTACTCAAGAAACTCAGTCAGGAGGATCACTTAAGCACAGAACTTT GATTCCGGCCTGGGCAACACAGTGAGACCCTATCTCTAAAAGGAACCAAA TAATGTGAAGTGTATTTCCAAAGCATTTTGTTGTTGTTGTCTGAGAAGGA GTCTCGCTCTGTTGCCCAGGCTGGACTGCAGTGGCACGATCTCGGCTCAC TGCAACCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(203): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0003t0004 a0001c0003t0014 a0001c0003t0016 a0001c0005t0004 a0001c0006t0019 a0001c0006t0028 a0001c0006t0037 a0001c0008t0004 a0002c0002t0001 a0002c0002t0022 a0003c0004t0002 a0003c0004t0005 a0003c0004t0010 a0003c0004t0015	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(174): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0002g0028 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0009g0011 a0001c0001t0009g0282 a0001c0001t0009g0287 a0001c0001t0009g0290 a0001c0001t0009g0292 a0001c0001t0012g0014 a0001c0001t0012g0069 a0001c0001t0012g0083 a0001c0001t0012g0109 a0001c0001t0012g0138 a0001c0001t0014g0101 a0001c0001t0014g0124 a0001c0001t0014g0128 a0001c0001t0016g0074 a0001c0001t0016g0118 a0001c0001t0020g0050 a0001c0001t0021g0051 a0001c0001t0024g0111 a0001c0001t0026g0097 a0001c0001t0029g0228 a0001c0001t0033g0297 a0001c0001t0035g0291 a0001c0001t0038g0318 a0001c0001t0039g0279 a0001c0003t0004g0027 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0004g0277 a0001c0003t0004g0294 a0001c0003t0004g0299 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0014g0143 a0001c0003t0014g0145 a0001c0003t0016g0144 a0001c0005t0004g0275 a0001c0005t0004g0304 a0001c0005t0004g0305 a0001c0005t0004g0306 a0001c0005t0004g0307 a0001c0006t0019g0261 a0001c0006t0019g0262 a0001c0006t0028g0260 a0001c0006t0037g0259 a0001c0008t0004g0229 a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0052 a0002c0002t0001g0062 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0095 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0114 a0002c0002t0001g0123 a0002c0002t0001g0129 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0140 a0002c0002t0022g0086 a0003c0004t0002g0004 a0003c0004t0002g0268 a0003c0004t0002g0269 a0003c0004t0002g0312 a0003c0004t0002g0316 a0003c0004t0002g0317 a0003c0004t0005g0311 a0003c0004t0010g0314 a0003c0004t0015g0313	206	370	0.5568	-1010	c.122 others(17): Show c.122-3402_122-2393del		TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	1/6						chr11	TogoVar
CLUL1_chr18_591988_655182	654174	GCCTCAAA others(1001): Show GCCTCAAAATAACACAAGGGGCCGGGTGCAGTGGCTCACGCCTGTATCCC AGCACTTTGGGAGGCTCGAGGCAGGCAGATTACTTCAGGTGAGGAGTTCG AGACCAGCCTGGCTAACATGGTGAACCTCCATCTCTACTAAAAATACAAA AACTAGCTGGGCATGGTGATGGGTGCCTGTAATCCCAGTTACTCGGGAGG CTGAGGCAGGAGAATTGCTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCT GAGATTCTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCG AAAAGAAAAAAAGAAAGAAAGAAAAAAAACACACAAGGATGTGCAACTGA TGCAGGGCAGGTGAGCCCAGAATTGGGCTTAGCTCAGGAGGGTTCTTGGT TTTGCTCAGGAAAGAATTTAAGAGCTACCTGGTAGAAGAAAAGCTCTACT GATATGGCAACAGCTCCCTGAGTGCCCCTGTAGAGCAGAGCTACCCTATA GGCAGTGTGCTGACAGCAGTAGCTTAAAGGCAGGTCTGCAGTGATATTTA TAACCTACTTTCAATTACATGCAAATTAAGGGGCAGATTATGCAGAAATG TCTAGAAAAAGGGTGGTAACTTCCGGTTGTCGGCTCACTGCCATGGAAAG GGGCAGTAAGCTCTGGATGTTGCCATGACAATCGTAAACTGACATGGCAC ACTGGTGGGCACGTCTTATGGAAAACTACTTCTGCCCCATCCTTGTTTTG ACTACTCCTCAATTTGGTCCCATGTCAGAGCCCTGCCTCCAGAGTCAAGC CCTGTCTACCTCACAATTATTATGTATCAGGTTTTTAAAAAATAACACAA GTAAGGCTGGGCATGGTGGCTCACGCCTTTAATCCCAGCACTTTGGGAGG CCGAGGTGGGCAGATCACTTCAGATCAGAAGTCTGAGACAAGCCTGACCA ACATGGTGAAACCCTGTCTCTCCTAAAAATGCAAAAAAAAAAAAAAAGAA AAAAAAATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03225.hp1 HG02109.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0005 a0001c0011 a0002c0005	a0001c0011t0001 a0002c0005t0001 a0001c0011t0001 a0002c0005t0001	a0001c0011t0001g0071 a0002c0005t0001g0125 a0001c0011t0001g0071 a0002c0005t0001g0125	2	414	0.0048	-1008	c.42 others(11): Show c.4274_*5281del		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding					3993		chr18	TogoVar
DOC2B_chr17_137789_186650	166641	ATCTGACA others(1001): Show ATCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGACGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTGATGG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	339	0.0030	-1008	c.454 others(17): Show c.454-3445_454-2438del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(1001): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG01109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0010 a0001c0001t0017g0047 a0001c0001t0001g0010 a0001c0001t0017g0047	2	339	0.0059	-1008	c.454 others(17): Show c.454-3511_454-2504del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
MAD1L1_chr7_1810795_2237945	1991168	CGAGCACC others(1001): Show CGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACC CGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTG AGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGG TGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAG CGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCT CACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGC TGGCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02280.hp1 others(6): Show HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02698.hp2 HG03195.hp1 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0195 others(6): Show a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0195 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261	9	264	0.0341	-1008	c.141 others(20): Show c.1416+9889_1417-10628del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
PPARG_chr3_12284070_12439344	12324026	CCCAGCAC others(1001): Show CCCAGCACTTTGAGAGGCTAAAGCGTGTGAATCACCTGAAGTCAGGAGTT CAAGAGCAGCCTGGCCAACATGGTGAAATCCCGTTTCCACTAAAAATACA AAAATTAGCCACGTGTGTTGGCACTCACCTGTAATCCCCGTTACTTGGGA GGCTGAGGCAGGAAAATCTCTTGAACCCAGGAGGTGGAGGTTGTAGTGAA CCGAGATCGTGCCACTGCACTCCAGGCTGGGCAACAGAGCAAGACTCTGT CTCAAAAGAAAAAAAAAAGAATAGACATTAAAAAGACACAGACGATGTGA GAAAAAAGACTGTTCCCACCAAGTTTAGAAGAAAGGATAATGAGGTTGAT GTGCCTGCTGTGCCGGGGGGATAAGAGAAAGGTGTCAGGCAAGAATAGAT GTATAAAAGCACTAGTTACAACTATACTTTGAAAGTCATATTTTACCTGG AAGAAATCTCAAAAAACAAAGACTACATGGCAGTTAAGTGACCCAAATCA AGTCACTTTCCCTCTTCAGGCCTCAGTTTTCCCATATGTTAGACAGGTTA AATTAGGTGAGACAAACTGATCTTTTAGGACCATTCTATAATACTGTGCT TAACTTTCTAAGCATTCTGGAATGGAGCAGCCTTGATCTTTTCACAGATA CGTCAACCATATAGCTTTATTTATAAAACGAACATGTTGAGATAACTAAA ATTAGAGTTAATATCTTCATAGGTACAAAGAAACTTTTAGAACTTAAGTC CACAAGTCAGAATTTCTGGATGAATTCCTTTTTCCTCTTATTAAAAATTG TTAAGATGTCTGATTAGACTAGTTGTAAATTCCCTTGAAAGCAAGGATGA TATCCTGCTCTCTACTGTGTCCTCAGCATCAAGGACAGTGCCTAACACAG AACAACTACCAATGAATATTTATGAAATGAATGAAAGTTTGAATTGCAAA ATTAAATGCCACCAATAAAGAGGCTTTGTGAGCGAGCGTGGTGGCTCAAG CCTGTAATT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	294	0.0034	-1008	c.-9+ others(17): Show c.-9+11585_-9+12592del		PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
RGPD4_chr2_107821892_107897544	107894220	AGTCTGGG others(1001): Show AGTCTGGGTGCGATGGTTCACACCTGTCATCCCGGCACTTAGGGAGGCCA GGGTGGGCAGATCACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAATA TGGTGAAAACTTGTCTCTACGAAAAATACAAAAATTAGCCAGGCATGTTG GCCCATGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGTAGGAGAATCGC TTGAACTCGGGAGGGGAGGCTGCAGTGAGCCAAGATCACACACCACTGCA CTCCAGCCTGGGCAACAAAGTGAGACCCCCATCTCAAATAAAGAAAGAAA ATTCCTATGAAGAAACACTATACCTCTGAGTTTCAATAATATAGATGATT AACCCAGTTTCCCTGCAAGGATGTGCTCACTGTGAACAGATGTAGTGGTT ACCACTCCAGATGTCTGCCTAGCATTTGAGACAACCTGTCACCCCTGCCT CTCTCTGGGAACTTTTGCCCCACCACCATACAGAGGGGCAGTAGGCCCAG CCATAATCAACTGAAACAGATACAGAGTTATGACCTGAGCCTAGGCAATT AGGTTTTCTCAGGAATATGGATCTGGGACTAAAGAACTCAGCATCTTCCT GTGACTGGAATTGTAGCATGTAAGTACAGAAGCTTTGGAGTGCCCAGAAA GAGCAGAGAAAGCCAGCCAAGAGAGTGCCAGGTTTAAGTTGACAGAAGAG GTCAACAAAATCGTGAAGTGAGTGTTCTGGGGACCTGAGAGTCAAGGGAC TGGATTCTGTACAATGTCTCTGCATCATCATAGTAAACTTTCTACACATG CTTTGAAAGTAAATATCAGATAATTTGGAGCACAGTATAATGGTAAAGTA TAAACTGTGAACTTACACAAGGACACCACAATTTCCGCCTCACTGACGAA TAACTTGGGGCATGTTCTTGACTGCTCTGAGCCCCCATTTCTTTATCTGT AAAAAGGAAATAAATTACATAGTTGTGAGTTATTGGACGACATAAAACCC AGCACAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0033 a0003c0002t0003g0033	1	374	0.0027	-1008	c.34 others(11): Show c.3490_*4497del		RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding					1677		chr2	TogoVar
VAV2_chr9_133756894_133997324	133827216	GCTACTGC others(1001): Show GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGC TGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCA CTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGG GGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGA CCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACC ACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAG TGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCG GGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACG GGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGG CATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0010 a0001c0007t0011g0010	1	200	0.0050	-1008	c.449 others(17): Show c.449+6048_449+7055del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ZNF208_chr19_21961095_22015943	21971336	GCTTTGCC others(1001): Show GCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTTT CTTGTGATATCTAAGGGTTGAGGGCCACTTATAGGCTTTGCCACATTCTT CACATTTGTAGAGTTTCTCTCCAGTATGAATTACCTTATGTTTTGCAAGG ATTGAGAACATAACAAAGCCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTACAGTATGAATTTTCTTATGATAACTAAGGGTTGAGGACCACTTAT AGGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATT ACCTTATGTTTAGTAAGGATTGAGAACGTACTAAAGCTTTTGCCACATTC TTCACATTTGTAGGGTTTCTCTCCAGTATGAATTCTCTTATGTTCCATAA GGTTTGAGGACCAGTTGAAAGCTTTGCCACATTCTTCACATTTGTAGGGT TCCTCTCCAGCATGAGTTGCCTTATGTTCAGTAAGTCTTGAGGGCCAGCT GAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTTTTCTCCAGCATGAG TTGCCTTATGTTCAGTAAGGCTTGAGGGCCAGCTGAAGGCTTTGTCACAT TCTTCACATTTGTAGGGTGTCTCTCCAGTGTGAATTTTCTTATGTTCCAT AAGGTTTGATGACCAGTTGAAAGCTTTGCCACATTCTTCACATTTGTAGG GTTTCTCTCCAGTATGAATTACCTTATGTTTAGTAAGGATTGAGAATGTA CTAAAGCCTTTGCCACATTCTTCATATTTGTAAGGTTTCTCTTCAGTATG AATTTTCTTATGATAACTAAGGGTTGAGGATGACTTATAGGCTTTGCCAC ATGCTTCACATTTGTAGAATTTCTCTCCAGCATGAGTTTTCTTATGTTTA CTAAAGACTGACAACCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTA GGGTTTCTCTCCAGTATGAATTACCTCATGTTTAGTAAGGATGGAGAACA TACTAAAAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18951.hp1 NA18951.hp1	a0029 a0029	a0029c0041 a0029c0041	a0029c0041t0003 a0029c0041t0003	a0029c0041t0003g0100 a0029c0041t0003g0100	1	404	0.0025	-1008	c.269 others(9): Show c.2690_3697del	p.Gly others(14): Show p.Gly897_Lys1232del	ZNF208	ENSG00000160321.16	transcript	ENST00000397126.9	protein_coding	4/4	3846/9088	2690/3843	897/1280			chr19	TogoVar
DLGAP2_chr8_732628_1713476	1396201	TGTATTGA others(1000): Show TGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGC TTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGC GCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCG TCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCT CCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAG AGTCGTGTATTGACGGACCTTTGCCAGGTGATGGCACAGTAGTGATGCTC ATGGGCTGTGTTCTTTCTTCGGGATAATTGCAGCTTGAAACTCCTGGGCA TCTGTGATTGGACTTTGGCAAAGTGAATGTATGTGTGTTGGAATGGGGCG TGTGTCTTTGTTAAATGTGACGTTTCTGTTTTTTTTTTGAGACGGAGTCT CTGTGACTCTTTTTTTACAACTATTCCCCCCAAATGGAGACAGATCAGTT TTGCTCTAAATGTGAATCCGAGGCCTCAGGAAGGCATTCGAGGTTTTCAG AACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACC TCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCT CGTCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTGCCTCCTCATCCTCC TGAGTCGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03492.hp2 HG02258.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0005 a0001c0002t0002 a0002c0001t0005	a0001c0002t0002g0021 a0002c0001t0005g0028 a0001c0002t0002g0021 a0002c0001t0005g0028	2	40	0.0500	-1007	c.107 others(21): Show c.107-105134_107-104128del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
MSI2_chr17_57251523_57689689	57509673	GGCCTCCC others(1000): Show GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCTGG TTGCTTGCTTTTTGCTCCTTCTTCAACTCCAAACCCAAGGCATTGCCAAG CAAATGCAGTCCCCCCATGATTAATTCAGTTGTCTCTACCACATGACACC TTCACAAGGTCTTTTCTGCTTTTTCAAAACTTTCCCATCCTTTACGATTA GTGTCATTCCTGAAGATTTTTGGCCAAATGGCAGTTTCTCCATTCCTTCT GTTGTAGCACCTGATTGTGCCACAATCAGTCACTGCATTTGCCCATTGGT TTAAATGTCTGTTTCAGCTTGCCTCTTCACCTGGGGCATGGGAGGCAGAA AGGGTGCATTTTTCATGTGTGCTGGGCCTGCCACGTATTTGTTGTCAGTT TGTTCTTAATTGCGCTGTTTGTCACACCACCGTTCTGCCCCACGAGGTTT CCCCATCTACTCCTTCCTCTGTCTTGGTCCCATAGGACTTTCAGCCTTTT GTGTGGCTGGGTTTTCTGCAGGCCTCTTTGGGGGCTGGTATGGATGGCCT TGGGTGGGGAGGGTGCCTGGGCCCCTGAGGCCCTCTTGATGAGGTGGGAT GTTGTGAATGGTGGCCCCATCCCCAGGGAGCCCTCTCGTTTCTTCCTACC CTGATATTTTATAACAAGATGCTCATAAGCCTTTGGTTCCACTGGCGTGA GCTCCTAAATAATGTTGCACTCCTCTTGTTTTTTTTTTTGTTTGTTTGTT TGTTTTGTCTTTTGTTTTTCTGGAGACAGAGTTTTGCTCTTGTCGCCCAA GCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGG GTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GTGTGCCACCACGCCCGGCTAATTTCTGTATTATTAGTAGAGACAGGGTT TCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCAC CCACCTCT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp2 HG03139.hp2 HG01884.hp2 HG02896.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0056 a0001c0001t0006 a0001c0001t0056	a0001c0001t0006g0022 a0001c0001t0006g0128 a0001c0001t0056g0020 a0001c0001t0006g0022 a0001c0001t0006g0128 a0001c0001t0056g0020	3	168	0.0179	-1007	c.406 others(19): Show c.406-19964_406-18958del		MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
NOC4L_chr12_132139457_132157468	132149573	ACTCACAC others(1000): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	294	0.0034	-1007	c.901 others(15): Show c.901+683_902-397del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149740	GGCCGCCT others(1000): Show GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	294	0.0034	-1007	c.901 others(15): Show c.901+863_902-217del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NPIPB11_chr16_29376310_29411711	29382620	GGAAGGTG others(1000): Show GGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATC GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCA TCCGCTGACGGTGGAAGCGGAACCCGCAGATGCTCAGCAGGTATCTTGAT ATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCGGAAGGTCTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGAACT GCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCT GAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATC ATCCGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGTTGTCTTGA TATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGA CGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCC CCGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAG CTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTA TCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTT GATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCT GACGCTCA	G G	frameshift_variant frameshift_variant	HIGH	NA18962.hp1 NA18962.hp1	a0094 a0094	a0094c0070 a0094c0070	a0094c0070t0001 a0094c0070t0001	a0094c0070t0001g0080 a0094c0070t0001g0080	1	428	0.0023	-1007	c.130 others(9): Show c.1305_2311del	p.His others(5): Show p.His502fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5058/6369	1305/3486	435/1161			chr16	TogoVar
DPH7_chr9_137549444_137583925	137567400	ACTCTGTC others(999): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	340	0.0029	-1006	c.641 others(17): Show c.641-3252_641-2247del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
PXDN_chr2_1626887_1749515	1710528	TCTACGAA others(999): Show TCTACGAACACCCACTCCACCAGCACCCACTCTCCACCAGCACCCTCTCC ACTAGCACCCTCTCCACCAGCACCCACTCTCCACCAGCACCCACTCTCCA CCAGCACCCACTCTATGAACACCCACTCTCCACCAGCACCCGCTCTACCA GCACCCACTCTATGAACACCCACTCTCCACCAGCACCCACTCCACCAGCA CCCTCTCCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCACCCAC TCTCCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCACCCACTCT CCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCACCCACTCTCCA CCAGCACCTGCTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCA GCACCCACTCTATGAACACCCGCTCCACCAGTACCCACTCTCCACCAGCA CCCGCTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCC ACTCCACCAGCATCCACTCTACCAGCACCCGCTCCACAAGCACCCACTCT CCACCAGCACCCACTCTCCACTAGCACCCACTCCACCAGCACCCACTCTC CACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCC ACCAGCACCCGCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCCACC AGCACCCACTCCACCAGCATCCACTCTACCAGCACCCGCTCCACCAGCAC CCACTCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACC CGCTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCATCCAC TCTACCAGCACCCGCTCCACAAGCACCCACTCTCCACCAGCACCCACTCT CCACTAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCA CCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCA GCATCCA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp1 NA21309.hp1 HG02647.hp2 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0007t0006 a0001c0001t0001 a0001c0002t0002 a0001c0007t0006	a0001c0001t0001g0078 a0001c0002t0002g0077 a0001c0007t0006g0076 a0001c0001t0001g0078 a0001c0002t0002g0077 a0001c0007t0006g0076	3	322	0.0093	-1006	c.201 others(19): Show c.201-18400_201-17395del		PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22						chr2	TogoVar
ZNF516_chr18_76352682_76500242	76393227	GGGGAGGG others(999): Show GGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTG GGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0286 a0001c0001t0010g0286	1	346	0.0029	-1006	c.181 others(21): Show c.1811-13930_1811-12925del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393232	GGGCAGGT others(999): Show GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0160	a0001c0001t0160g0136 a0001c0001t0160g0136	1	346	0.0029	-1006	c.181 others(21): Show c.1811-13935_1811-12930del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
GALNT9_chr12_132191372_132334589	132231783	GTGCTACA others(998): Show GTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGG TGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG TGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTG GAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGT CCCTAC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	-1005	c.107 others(21): Show c.1077+15122_1077+16126del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
MUC4_chr3_195741771_195816929	195775620	TCATACCT others(998): Show TCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCGATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACATCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACGGCCATAACTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACAGCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAT CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAG CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CACACCCATACCTTCCGCATCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCACACCCATACCTTCCGCACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0097 a0097	a0097c0129 a0097c0129	a0097c0129t0002 a0097c0129t0002	a0097c0129t0002g0188 a0097c0129t0002g0188	1	249	0.0040	-1005	c.129 others(21): Show c.12943+1678_12944-1316del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
NEU4_chr2_241804193_241822413	241806645	ACCCTCCC others(998): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	319	0.0031	-1005	c.-26 others(11): Show c.-2632_-1628del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2547		chr2	TogoVar
PAQR5_chr15_69293912_69412780	69322071	GGCTTATG others(998): Show GGCTTATGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGTGGGAGGGTCA CTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATTTCTAAAAAAAAAA AAAAAAAAAATTAAAAACTAGCCAGGGCCGGGTGCAGTGGCTCATGTCTG TAATCCCAGCACTTTGGGAGGCTGAGACAGGCAGATCACCTGAGGTCAGG AGTTCGAGACCAGCCTGGCCATCCATGGCTAACATGGTGAAACCCTGTCT CTACTAAAAATACAAAAATCAGCTGGGCGCGGTAGCGGGCACCTGTAATC CCAGCTACTTAGGAGGATAAGACAGGAGGCAGAGGTTGCAGTGAGCCGAG ATCGCACCACTGCACTCCAGCCTGGATGACAGAGGGAGACCCCGTCTCAA AAAAACCAAAAATAAAAAACAAGAAAAAAACCTAGCTAGGTACTGTGGCG TGTGCGTGTGGTCCAAGCTACTCAGGAGGGAGGCTGTGGTAAGAGGATCA TTTCAGCCTAGGAGGTCGAGGCTGCAGTGAGCTGTGTTTGTACCACTGCA CTCCAGGCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAA AAAGAAGAAGAAGGAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AGGGAGAAGAAGAAGACGAGGAAGAAGAAGAAGAGGAAGAGGAAGAAGAA GAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAATTATTTCATCAAGAAGA GAAGATGGAGTAAGAGATGTCTCATCCAGTGCAAATAACGAGCACAAAGA GCGCATGGGGGTGGGAAGTTCCTGGTGCACTAAGGACCGAGATGACAGGA GGGCAGGCATATGGCAAGGCTGGTGGGAGGTGGGGCTGGGGGACTGCGGA GGGCTTGAGGATATGCTAAGGAGTGGGGTTTTCCAGGACCTACTGCTGGG GACTGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(34): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG01167.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02897.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp2 NA18939.hp1 NA18942.hp1 NA18954.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18981.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19063.hp1 NA19067.hp2 NA19081.hp2 NA19086.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0003 a0001c0003t0020 a0002c0002t0002	a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0276 others(34): Show a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0233 a0001c0001t0003g0131 a0001c0001t0004g0269 a0001c0001t0006g0251 a0001c0003t0003g0028 a0001c0003t0003g0083 a0001c0003t0003g0106 a0001c0003t0003g0114 a0001c0003t0003g0142 a0001c0003t0003g0220 a0001c0003t0003g0248 a0001c0003t0003g0259 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0267 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0279 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0020g0132 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0266	37	284	0.1303	-1005	c.-27 others(21): Show c.-276-15266_-276-14262del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PLEKHG4B_chr5_87168_194966	100445	AAAAAGCC others(998): Show AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTT GTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACT GTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAG ACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGG GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTAT AGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTC TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGC CCGGGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0127 a0002c0005t0127	a0002c0005t0127g0124 a0002c0005t0127g0124	1	210	0.0048	-1005	c.45+ others(15): Show c.45+8222_45+9226del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100902	TAATCCAT others(998): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAG AGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTA GGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCC TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCGGGGA AAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCT CTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAA GCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATAT AAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCA TATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAAT CCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTT AATCCATATAAAGCCCTGGAGAAAGTCTATAGGGGAGAGACTGTTGTGAG GTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGT GAGGTA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp2 HG03209.hp2 others(2): Show HG02886.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 NA19043.hp1	a0009 a0017 a0009 a0017	a0009c0012 a0009c0034 a0017c0029 a0009c0012 a0009c0034 a0017c0029	a0009c0012t0033 a0009c0012t0114 a0009c0012t0115 others(2): Show a0009c0012t0033 a0009c0012t0114 a0009c0012t0115 a0009c0034t0033 a0017c0029t0112	a0009c0012t0033g0161 a0009c0012t0114g0156 a0009c0012t0115g0157 others(2): Show a0009c0012t0033g0161 a0009c0012t0114g0156 a0009c0012t0115g0157 a0009c0034t0033g0162 a0017c0029t0112g0155	5	210	0.0238	-1005	c.45+ others(15): Show c.45+8655_45+9659del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101090	GTAGGGGA others(998): Show GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG TCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATAT AAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCA TATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAAT CCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTA AATCCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAG GTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGT GAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGAC TGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGTCTATAGGGGAGA GACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGG AGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTATAG GGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGTCTA TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAA AGTCTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0065 a0014c0065	a0014c0065t0038 a0014c0065t0038	a0014c0065t0038g0166 a0014c0065t0038g0166	1	210	0.0048	-1005	c.45+ others(15): Show c.45+8864_45+9868del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
RPH3AL_chr17_207389_357807	256891	CGTGACTA others(998): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTA GGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCT GTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCT ACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCT AGGAAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	133	0.0075	-1005	c.439 others(18): Show c.439-10611_439-9607del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
TRIML1_chr4_188134441_188152743	188151209	TTGAGAAG others(998): Show TTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGAGGAATGAGAGTGGGGGT GAGAAGGGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAATGAGAGTGGGGGTGAGAGG GGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGG GGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTG AGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGATTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGGGGTTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG AGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02257.hp1 NA18522.hp2 HG01109.hp2 HG02257.hp1 NA18522.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0006c0008 a0003c0005 a0006c0008	a0003c0005t0002 a0006c0008t0001 a0003c0005t0002 a0006c0008t0001	a0003c0005t0002g0105 a0006c0008t0001g0076 a0006c0008t0001g0077 a0003c0005t0002g0105 a0006c0008t0001g0076 a0006c0008t0001g0077	3	228	0.0132	-1005	c.38 others(11): Show c.3838_*4842del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					3467		chr4	TogoVar
ZNF516_chr18_76352682_76500242	76393228	GGGAGGGC others(998): Show GGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGG GAAGCC	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0022 a0001c0001t0047g0022	1	346	0.0029	-1005	c.181 others(21): Show c.1811-13930_1811-12926del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
DPH7_chr9_137549444_137583925	137566514	TCTGTCTG others(997): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0314 a0001c0001t0006g0314	1	340	0.0029	-1004	c.641 others(17): Show c.641-2364_641-1361del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567020	TCTGTCTG others(997): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	340	0.0029	-1004	c.641 others(17): Show c.641-2870_641-1867del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
NTM_chr11_131365615_132341822	132069068	AAACACGT others(997): Show AAACACGTCACACAGCCAAGTTAACACAACAAACTGACGATCACAGGTTA GTTTACACGTCACACAGCCAAAACACGTCAAACTGACCATCACAGGTTAG TTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCATCACAGGTT AGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTGACCATCACAGA TTAGTTAACACGTCACTCAGCCAAGTTAACACGTCACACTGACCATCACA GGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCACACTGACCATCA CAGGTTAGTTAACACGTCACTCAGCCAAGTTAACACGTCAAACTGACTGT CACCGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACC GTCACAGGTTAGTTAACATGTCACACAGCCAAGTTAACACGTCACACTGA CCGTCACAGGTTAGTTAACACGTCACCCAGCCAAGTTAACACGTCAAACT GACCGTCACAGGTTAGTTAACACGTCACACAGACAAGTTAACACATCACA CTGACCGTCACAGGTTAGTTAACAGGTCACCCAGCCAAGTTAACACGTCA CACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAGGTTAACACGT CACACTGACCATCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACAC GTCAAACTGACGATCACAGGTTAGTTAACACGTCACACAGCCAAAACACA TCAAACTGACCATCACAGGTTAGCTAACACGTCACACAGCCAAGTTAACA CGTCACACTGACCGTCACAGGTTAGTTTACACGTCACACAGCCAAAACAC GTCAAACTGACCATCACAGGTTAGTTAACATGTCACACAGCCAAGTTAAC ACGTCAAACTGACGATCACAGGTTAGTTAACACGTCACACAGCCAAGTAA GTTAACACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCC AAGTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	86	0.0116	-1004	c.168 others(19): Show c.168-77187_168-76184del		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE6A_chr5_149852953_149949793	149881851	CAAAACCA others(997): Show CAAAACCAGCCTAGGCAACATGGCAAAACCTGTTTCTACCAAAATTACAA AAATTAGCCAGGTATAGTGCGTGTGCCTGTAGTCCCAACTACTAAGGAGG CTGAGGTGAGGGGATTGCTTGAGCCTGGAAGGTTGAGGCTGCAGTGAGCC CTGATCGCCACTGCACTCCAGCCTGGGCAATAGAGCAAGACCCTGTCTCA AAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGTCC AGGGGGGCAGCTCCTGGCCAGTCTATGAGTAACTGTGGGCTGAGCATGCC CCCTTGTTCAGTGAAAGCAGATTGCACTGCTCCCAGAATCAGGGGACCTT TGTGGGAGGCCTGGTTGGACAACTGCAGGGCTGAAGGAGTGGCAACTTGC TGCTGCCCCCCCCGTTTCCGGAGCCTGTCCCAGTGGTCTCCTCTTCTCTG TTGCAGACATTTGCAATGCTTGTGACTTAATCAAGCCTCATTTCCACAGA AGCATCTGGGGATAAACAAATAACCCAATGCTTCCTAGGCAACTAGTCAG CCTTGTCTCCCCTGCAACTTTTCCTGACCATTGCCTTCAATGCCCAGGAC CCATCACAGAGGAGCCAGGGGACCATTTGGCTTGGGCCACATATTCATAA AAGGCCTCAAATTTACACTTCTCACCCCATTGTCAATTGAGGTGAATCAT GGAAGCACACTGAGAAAACTGAAAAAAGACATTCACCAGACAACTTAAAT TTGAGTCCCATTACCAACCATGCCAGACCATGCACTGTAAATTTCATACC AACCATAACCAATTTGTGACTAGCACAGCTATATTGTGGGATATTGTCCT ATGTAAAGGAATACGTTAAAAATTAAGCCTATATGTTTTGAATAACACAT TAACTATCACTCAAACTTTAATTCGGGCCGGGCATGATGGCTCACGCCTA TAATCCCAGCACTTTGAGAGACAGAGGTGGGTGTATCACTTGAGGTCAGG AGTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0027 a0001c0009t0027	a0001c0009t0027g0175 a0001c0009t0027g0175	1	328	0.0031	-1004	c.213 others(18): Show c.2135+574_2135+1577del		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	17/21						chr5	TogoVar
ACAP3_chr1_1287391_1312930	1288988	TCTGCTCC others(996): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	295	0.0034	-1003	c.35 others(11): Show c.3573_*4575del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3402		chr1	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(996): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	350	0.0029	-1003	c.21 others(11): Show c.2161_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186264	GACACGGG others(996): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAATACCAACACGGGAGGAAC AGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG01106.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 others(1): Show a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321	4	350	0.0114	-1003	c.19 others(11): Show c.1931_*2933del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2725		chr16	TogoVar
MYT1L_chr2_1784113_2336275	2035187	CATCTCCA others(996): Show CATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC AACCATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTC TCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCAACAATCTCCACCCTCCAATGTGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGA GCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAG AGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAG AAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTG CAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCCCCCTCCAATGTGGG TGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGC GGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAAT GCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCC AATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCC TCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCA TCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCT CCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAAT CTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAAC AATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC AACA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0088 a0001c0005t0005g0088	1	104	0.0096	-1003	c.-15 others(21): Show c.-158+17788_-158+18790del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24						chr2	TogoVar
RNF212_chr4_1066478_1118564	1095230	TGGTCTCG others(996): Show TGGTCTCGGGATAGCGCACCTGGCTCATCACGGAACCAAGCACACCCCCC ACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACCAAGC ACACCTCCCACAGCTCCATGGTCTCAGCATAGCGCACCTGGCTCATCACA GAACCAAGCACAACTCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGG CTCATCACAGAACCAAGCACAACTCCCACAGCTCCACGGTCTCGGGATAG CGCACCTGGCTCATCACAGAACCAAGCACAACTCCCACAGCTCCATGGTC TCGGGATAGTGCACCTGGCTCATCACAGAACCAAGCACACCTCCCACAGC TCCATGGTCTCAGCATAGCGCACCTGGCTCATCACAGAACCAAGCACACC CCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACC AAGCACACCTCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCAT CACAGAACCAAGCACACCTCCCACAGCTCCATGGTCTCAGCATAGCGCAC CTGGCTCATCACGGAACCAAGCACACCCCCCACAGCTCCATGGTCTCGGG ATAGCGCACCTGGCTCATCACAGAACCAACCACACCCCCCACAGCTCCAT GGTCTCAGCATAGCGCACCTGGCTCATCACAGAACCAAGCACACCTCCCA CAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACCAAGCA CAACTCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACGG AACCAAGCACACCCCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGC TCATCACGGAACCAAGCACACCCCCCACAGCTCCACGGTCTCGGGATAGC GCACCTGGCTCATCACGGAACCAAGCACACCCCCCACAGCTCCACGGTCT CGGGATAGCGCACCTGGCTCATCACGGAACCAAGCACACCCCCCACAGCT CCAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	406	0.0025	-1003	c.246 others(16): Show c.246+532_246+1534del		RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9						chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288988	TCTGCTCC others(996): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0006 a0012c0022t0006	a0012c0022t0006g0269 a0012c0022t0006g0269	1	290	0.0035	-1003	c.166 others(17): Show c.1662+969_1663-263del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP6V1E1_chr22_17587136_17633749	17613902	GCTTGCAG others(995): Show GCTTGCAGCGAGTGGAGATCGTGCCACTGCACTCTAGCCTGGGCGACAGA GCAGAACTCTGTCTCAAAAAAAAACAAAGATCCAGATTACTGCCCATAAA ATGTGGTCGAGTAACCTCAGGCTTAGTGTCCTCTCTTGTAAAATGAACTT AAAAAAATTAAAAAGTTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCAGACAGATCACCTAAGGTCAGGAGTTTGAG ATCGGCCTGATCAACATAGAGAAACCTCGTCTCTACTAAAAATATAAAAC TGGCCAGGCGTGGCGGCGCATGCCTGTAATCCCAGCTAGTCGGAAGGCTG AGGGAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAG ATCGTGCCACTGCACTCTAGCTTAGGGAAGAAGAGGGAAACTCCATCTAA AAAAATAAAAATAAAAAATAAAGGCTAGGCATGGTGGCCTAACGCCTGCC ATCCCAGCACTTTGGGGGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAG TTCGAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTAAAAATA CACACACACACACACAAAAATTAGCCGCGCATGGTGGGCACATGCCTGTA ATCCCAGATACTCAAGAGGGAGAGGTAGGAGAAATGCTTGAACCCAGGAG GTGGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCA ACAAAAGCGAACTCTTAAAAAAAAAAAAAAAAGTTGCCTGGGCACGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCT ACTAAAAAATACAAAAAATTAGGCGGGCGTGGTGGCAGTCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCG GAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	370	0.0027	-1002	c.100 others(16): Show c.100-1584_100-583del		ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	2/8						chr22	TogoVar
ATP9B_chr18_79064394_79383283	79144992	GCGGTGTG others(995): Show GCGGTGTGGAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGC GGTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCGGAGCTGGCGGTGT GGAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCCGGCGGTGTGC AGAGTGACTGAAGGTGCAGGCTGCATGTCGGAGCTGGCGGTGTGCAGAGT GACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCAGTGTGGAGAGTGA CTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACT GAAGGTCCAGGCTGCATGTCGGGGTTGCTGGCGGTGTGCAGAGTGACTGA AGGTGCAGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAG GTGCAAGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGT GCAGGCTGCATGTCGGGGCTGCTGGCGGTGTGCAGAGTGACTGAAGGTGC AGGCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAA GCTGCATGTCAGGGGAGCTGCCGGTGTGGAGAGTGACTGAAGGTGCAGGC TGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTG CATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCA TGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATG TCGGGGGAGCTGACGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTC GGGGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGG GGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGG GAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGA GCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCAGGGGAGC TGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(7): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG02258.hp2 HG02735.hp2 HG06807.hp2 NA18955.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0008 a0004c0036 a0001c0006 a0004c0008 a0004c0036	a0001c0006t0003 a0001c0006t0004 a0004c0008t0001 others(1): Show a0001c0006t0003 a0001c0006t0004 a0004c0008t0001 a0004c0036t0001	a0001c0006t0003g0268 a0001c0006t0004g0273 a0004c0008t0001g0001 others(6): Show a0001c0006t0003g0268 a0001c0006t0004g0273 a0004c0008t0001g0001 a0004c0008t0001g0269 a0004c0008t0001g0270 a0004c0008t0001g0272 a0004c0008t0001g0274 a0004c0008t0001g0275 a0004c0036t0001g0271	10	298	0.0336	-1002	c.726 others(17): Show c.726+1206_726+2207del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
OR9Q1_chr11_58018881_58186616	58051619	GAAAAAAA others(995): Show GAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACAAGCAACCTACA AAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGGGCTAATATC CAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAAAACAAACAACC CCATCAAATAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGAC ATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCAT CAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTA GAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGT GGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATT ATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCG CACCAGCATGGCACATGTATATATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAAAAGAAAAAAAG GAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	324	0.0031	-1002	c.-92 others(17): Show c.-92-4236_-92-3235del		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
RAVER2_chr1_64740075_64838232	64751340	TCTCCCAG others(995): Show TCTCCCAGCTTCAAATCATCAGTAGGTACTCCTGCATCTTATGGCAAAAG CTCAGGAAGAAGGGAATTTAAGGAAATTGCTCCTTGAATTAACAAGACTC AGATCAGGGAAGCATTAAATGAAGTCAACTCTGATCAAAGGCTGTTACTG CAAAAGGGGTTCCTATTACTAACTACCTGAGTTTTGTCTCTTGATTCTTC TATTTGCACTTATTCTTCTTTCCTTATGGACAAAAAGTTTTTGTTTTTCA TTTTTAGATACGGGATGTTGCTATGTTGCCCAGGCTGGAGTGCAGTGGCT ATTCACACATTCACAGGCATAATCATAGTGCACTGCACTGTGGCCTCAAG CTCCTGGCCTCAGATCCTGTGCTACCAAGCCCAGCCTTGATTTTTTTAAA ATCTTTACTTTATTTTGTAAATTTATTTTTAATTTTTAATTTAATTTTTT TAAAAAAAGCTTTATGCTTAACTTTCCTCGCTCAGCTAAAACAGGCAAAC CAAGGAATATTAAAATGTAAATAAAATTATTTATATATTTTTAAATCCTA AAATTGCTTATCATGTGTCTCGGCTGTTTGTATTTTGTTTGCCTAATTAC ACAATTGCCTGACTCTAAGGAGATAGTATGAACTGAGAGGGGTAATAAGT GAGAAGTCGGAAGATCAGATCACCTAGAACATTTGGCTATACAGTACTGT ATATTTTTTGGCTGATGATTATGGGCAGGATAGCCCTTGGTGGTTGTGCT GAATAGCTTCCATTTGCTCTTCCAGATCTATTCTCGACCCTTCTCACCCA CTCCTTATCCAGGGAGGCTAACCTGTACTGTGGATTGCACCAACAAGGCT CTCTCTTATCCTCTGTTTTATGGTTGCACTTGGCCAGAGCCACTAGTGGG GGATCAGAGGGTTGAGGAGAGGAGCATTTATTCACCCAGCATTTATTCAC AGGTGACTGTGGGTTGGCTGCTTCCTCTTTAAAAGTCGGTTTCTATCCAG TGG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	364	0.0028	-1002	c.249 others(17): Show c.249+5925_249+6926del		RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SUMO2_chr17_75160586_75187959	75185588	GTCTCTAC others(995): Show GTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGT ATTCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGTA AGTAGAAGTTGCAGTGAGCCAAGATCACACCACTCACTGCACTCTAGCCT GGGCAACAGAGCAAGACTTCGTCTCAAAAAAAAAAACAAAAAAACAAAAA AACACAAAGATACTGCAATATGGAAATACCCTCCTAACTCATCTGTTTTT TTTTGTTGTTGTTGTTGTTTGTTTTGTTTTAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGGCACGATCTCGGCTCACTGCAACTTCTGCCCCCCG GGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGG CACATGCCACCACGCCCGGCTAATTTTTTGTATTTCTAGTAGAGATGGGG TTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATGTGC CCGTCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCC CGGCTGTTTATTTGTTTGTTTGTTTTTTTCAGACAGAATTTTGCTCTTGT GGCCCAGGCTGGAGTGCAATGGCAAGATCTCAGCTCACTGCAAACTCCGC CTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGAT TACAGGCATGCCATGCACCACCGTGCCTGGCTAATTTTGTATTTTTAATA GAGACGGGGTTTCTCCATGTTGGTCACACTGGTCTCGAACTCCCGACTTC AGGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGA GCCACCGCGCCCAGCCTAACCCATCTGTTTTAAAGTACCTCCAGGCCGGG TGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC AGATCACGAGGTCAGGAGATCGAGACCACCCTGGCTAACACAGTGAAACC CCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-1002	c.-37 others(11): Show c.-3756_-2755del		SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding					2630		chr17	TogoVar

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Search Results (Total: 2609 hits)