Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADGRA1_chr10_133082924_133136675	133111870	T T	TCCAGACC others(203): Show TCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGG CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0004 a0001c0018t0004	a0001c0018t0004g0237 a0001c0018t0004g0237	1	368	0.0027	210	c.401 others(227): Show c.401+9048_401+9049insGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAG GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111891	A A	AGGCACCT others(203): Show AGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGACACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0316 a0001c0002t0007g0316	1	368	0.0027	210	c.401 others(227): Show c.401+9050_401+9051insGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACGGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGAC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111951	C C	CCCACCAG others(203): Show CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0036 a0001c0001t0030g0036	1	368	0.0027	210	c.401 others(227): Show c.401+9111_401+9112insACCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCT AATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATGCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111975	A A	AGGCACCT others(203): Show AGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0025 a0001c0001t0040g0025	1	368	0.0027	210	c.401 others(227): Show c.401+9150_401+9151insCCCACCAGACAACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111975	A A	AGGCACCT others(203): Show AGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCC AGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACC TGCCCACCACG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	368	0.0027	210	c.401 others(227): Show c.401+9150_401+9151insCCCACCAGACAACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCC CTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGAC AACCTGCCCACCACGGGCACCTCCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111977	G G	GCACCTCC others(203): Show GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0277 a0001c0001t0010g0277	1	368	0.0027	210	c.401 others(227): Show c.401+9150_401+9151insCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCC CACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACGGACACCTCCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112018	G G	GGCACCTC others(203): Show GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAGACCACCT GCCCGCCGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0005 a0011c0011t0005	a0011c0011t0005g0252 a0011c0011t0005g0252	1	368	0.0027	210	c.401 others(227): Show c.401+9176_401+9177insGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCT CCTAATGCCTCCAGACCACCTGCCCGCCGTGA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112045	C C	CACCTGCC others(203): Show CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0073 a0001c0003t0073	a0001c0003t0073g0234 a0001c0003t0073g0234	1	368	0.0027	210	c.401 others(227): Show c.401+9210_401+9211insCACCACGGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCTCCAGACAACCTGCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113435445	T T	TGCAGGGT others(203): Show TGCAGGGTGAATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGT GAACATAGGTGTACCCCGGGACCCAGCACCCAGGCACAGAGTGAACATAG GTGTACCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCC CGGGACCGGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCC AGCATCCACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0035 a0003c0003t0009g0035	1	262	0.0038	210	c.380 others(227): Show c.380-1579_380-1578insGTGTGGATGCTGGGTCCCGGGGTACACC TATGTTCACCCTGCGCCTGGGTGCCCGGTCCCGGGGTACACCTATGTTCA CTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCACTCTGTGC CTGGGTGCTGGGTCCCGGGGTACACCTATGTTCACTCTACATGTGGGTGC TGGGTCCCGGGGTACACCTGTATTCACCCTGC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436495	T T	TGTAGGGT others(203): Show TGTAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGT GAATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACATAG GTGTACCCCGGAACCCAGCACCCAGGCACAGAGTGAACATAGGTGTACCC TGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCC AGCATCCACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02809.hp2 NA19240.hp1 HG01071.hp2 HG02809.hp2 NA19240.hp1	a0006 a0015 a0006 a0015	a0006c0007 a0015c0014 a0006c0007 a0015c0014	a0006c0007t0013 a0015c0014t0025 a0006c0007t0013 a0015c0014t0025	a0006c0007t0013g0056 a0006c0007t0013g0241 a0015c0014t0025g0230 a0006c0007t0013g0056 a0006c0007t0013g0241 a0015c0014t0025g0230	3	262	0.0115	210	c.380 others(227): Show c.380-2629_380-2628insGTGTGGATGCTGGGTCCCGGGGTACACC TATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCA CTCTGTGCCTGGGTGCTGGGTTCCGGGGTACACCTATGTTCACTCTACAT GTGGGTGCTGGGTCCCGGGGTACACCTGTATTCACCCTGCACCTGGGTGC CGGGTCCCGGGGTACACCTATGTTCACCCTAC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436579	T T	TGTAGGGT others(203): Show TGTAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGT GAATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACATAG GTGTACCCCGGAACCCAGCACCCAGGCACAGAGTGAACATAGGTGTACCC TGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCC AGCATCCACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0076 a0004c0005t0012g0076	1	262	0.0038	210	c.380 others(227): Show c.380-2713_380-2712insGTGTGGATGCTGGGTCCCGGGGTACACC TATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCA CTCTGTGCCTGGGTGCTGGGTTCCGGGGTACACCTATGTTCACTCTACAT GTGGGTGCTGGGTCCCGGGGTACACCTGTATTCACCCTGCACCTGGGTGC CGGGTCCCGGGGTACACCTATGTTCACCCTAC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436718	T T	TAGGTGTA others(203): Show TAGGTGTACCCCGGAACCCAGCACCCAGGCACAGAGTGAACATAGGTGTA CCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCAC CCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGT AGAGTGAACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0072 a0002c0002t0072	a0002c0002t0072g0174 a0002c0002t0072g0174	1	262	0.0038	210	c.380 others(227): Show c.380-2852_380-2851insGTGTTCACTCTACGTGTGGATGCTGGGT CCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGGGTCCCGGGGT ACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTAT GTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCACTC TGTGCCTGGGTGCTGGGTTCCGGGGTACACCT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
AFAP1_chr4_7753714_7944861	7919007	C C	CCAGATGA others(203): Show CCAGATGAGACACTCGGCCCAGGTCACCAAGAAACAGGGCTGCCAGATGA GACACTCGGCCCAGGTCACCAGGAAACAGGGCTGTTGGAAGAGACACTAG GCCCAGGTCACCAGGAAACAGGGCTGCGGATGAGACACTCGGCCCAGGTC ACCAGGAAACAGGGCTGCCAGAAGAGACACTCGGCCCAGGTCACCAAGAA ACAGGGCTGCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0119 a0001c0001t0023g0119	1	318	0.0031	210	c.-3+ others(227): Show c.-3+20648_-3+20649insAGCAGCCCTGTTTCTTGGTGACCTGGGC CGAGTGTCTCTTCTGGCAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTC TCATCCGCAGCCCTGTTTCCTGGTGACCTGGGCCTAGTGTCTCTTCCAAC AGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCATCTGGCAGCCCTGT TTCTTGGTGACCTGGGCCGAGTGTCTCATCTG	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7919007	C C	CCAGATGA others(203): Show CCAGATGAGACACTCGGCCCAGGTCACCAGGAAACAGGGCTGCCAGATGA GACACTCGGCCCAGGTCACCAGGAAACAGGGCTGTTGGAAGAGACACTAG GCCCAGGTCACCAGGAAACAGGGCTGCGGATGAGACACTCGGCCCAGGTC ACCAGGAAACAGGGCTGCCAGAAGAGACACTCGGCCCAGGTCACCAAGAA ACAGGGCTGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(217): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0020 a0001c0021 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0038 a0001c0043 a0001c0044 a0001c0045 a0002c0005 a0002c0035 a0002c0039 a0002c0040 a0003c0013 a0003c0028 a0003c0041 a0005c0018 a0006c0046 a0008c0042	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(71): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025 a0001c0001t0027 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0070 a0001c0002t0003 a0001c0002t0013 a0001c0002t0022 a0001c0002t0024 a0001c0002t0032 a0001c0002t0034 a0001c0002t0040 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0052 a0001c0002t0053 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0017 a0001c0003t0020 a0001c0003t0056 a0001c0003t0058 a0001c0003t0059 a0001c0004t0006 a0001c0004t0007 a0001c0004t0008 a0001c0004t0011 a0001c0004t0065 a0001c0007t0006 a0001c0007t0021 a0001c0007t0036 a0001c0007t0061 a0001c0007t0067 a0001c0009t0009 a0001c0009t0041 a0001c0009t0042 a0001c0010t0001 a0001c0010t0012 a0001c0010t0039 a0001c0010t0044 a0001c0011t0016 a0001c0012t0018 a0001c0014t0001 a0001c0014t0015 a0001c0016t0003 a0001c0017t0017 a0001c0020t0026 a0001c0021t0006 a0001c0031t0071 a0001c0032t0009 a0001c0033t0017 a0001c0034t0023 a0001c0038t0002 a0001c0043t0057 a0001c0044t0032 a0001c0045t0001 a0002c0005t0004 a0002c0005t0035 a0002c0005t0064 a0002c0035t0001 a0002c0039t0072 a0002c0040t0073 a0003c0013t0005 a0003c0028t0005 a0003c0041t0005 a0005c0018t0004 a0006c0046t0012 a0008c0042t0004	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 others(217): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0193 a0001c0001t0001g0282 a0001c0001t0010g0041 a0001c0001t0010g0059 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0077 a0001c0001t0014g0049 a0001c0001t0014g0053 a0001c0001t0014g0056 a0001c0001t0014g0065 a0001c0001t0025g0019 a0001c0001t0025g0069 a0001c0001t0027g0071 a0001c0001t0027g0072 a0001c0001t0043g0070 a0001c0001t0046g0080 a0001c0001t0047g0060 a0001c0001t0070g0312 a0001c0002t0003g0029 a0001c0002t0003g0044 a0001c0002t0003g0106 a0001c0002t0003g0274 a0001c0002t0013g0224 a0001c0002t0013g0310 a0001c0002t0013g0311 a0001c0002t0022g0222 a0001c0002t0022g0223 a0001c0002t0024g0291 a0001c0002t0032g0252 a0001c0002t0034g0268 a0001c0002t0034g0292 a0001c0002t0040g0220 a0001c0002t0048g0273 a0001c0002t0049g0290 a0001c0002t0050g0226 a0001c0002t0052g0009 a0001c0002t0053g0303 a0001c0003t0002g0008 a0001c0003t0002g0021 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0160 a0001c0003t0002g0162 a0001c0003t0002g0166 a0001c0003t0002g0169 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0190 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0208 a0001c0003t0002g0256 a0001c0003t0002g0287 a0001c0003t0005g0161 a0001c0003t0005g0165 a0001c0003t0005g0170 a0001c0003t0005g0185 a0001c0003t0005g0186 a0001c0003t0005g0187 a0001c0003t0006g0159 a0001c0003t0017g0206 a0001c0003t0017g0207 a0001c0003t0020g0180 a0001c0003t0020g0181 a0001c0003t0020g0182 a0001c0003t0056g0025 a0001c0003t0058g0198 a0001c0003t0059g0164 a0001c0004t0006g0020 a0001c0004t0006g0063 a0001c0004t0006g0075 a0001c0004t0006g0076 a0001c0004t0006g0211 a0001c0004t0006g0296 a0001c0004t0006g0299 a0001c0004t0007g0302 a0001c0004t0008g0237 a0001c0004t0008g0238 a0001c0004t0008g0247 a0001c0004t0008g0276 a0001c0004t0008g0293 a0001c0004t0008g0295 a0001c0004t0008g0300 a0001c0004t0011g0253 a0001c0004t0011g0270 a0001c0004t0011g0281 a0001c0004t0011g0284 a0001c0004t0011g0301 a0001c0004t0065g0200 a0001c0007t0006g0131 a0001c0007t0006g0189 a0001c0007t0006g0228 a0001c0007t0006g0234 a0001c0007t0006g0235 a0001c0007t0006g0263 a0001c0007t0021g0254 a0001c0007t0021g0255 a0001c0007t0021g0262 a0001c0007t0036g0005 a0001c0007t0061g0258 a0001c0007t0067g0236 a0001c0009t0009g0246 a0001c0009t0009g0277 a0001c0009t0009g0278 a0001c0009t0009g0279 a0001c0009t0041g0202 a0001c0009t0042g0229 a0001c0010t0001g0039 a0001c0010t0012g0002 a0001c0010t0012g0003 a0001c0010t0012g0004 a0001c0010t0039g0225 a0001c0010t0044g0068 a0001c0011t0016g0042 a0001c0011t0016g0043 a0001c0011t0016g0064 a0001c0012t0018g0199 a0001c0012t0018g0201 a0001c0012t0018g0203 a0001c0014t0001g0167 a0001c0014t0015g0163 a0001c0014t0015g0194 a0001c0016t0003g0233 a0001c0017t0017g0221 a0001c0020t0026g0195 a0001c0021t0006g0283 a0001c0021t0006g0294 a0001c0031t0071g0313 a0001c0032t0009g0267 a0001c0033t0017g0017 a0001c0034t0023g0074 a0001c0038t0002g0212 a0001c0043t0057g0286 a0001c0044t0032g0227 a0001c0045t0001g0022 a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0216 a0002c0005t0004g0217 a0002c0005t0004g0218 a0002c0005t0004g0219 a0002c0005t0004g0230 a0002c0005t0004g0244 a0002c0005t0004g0266 a0002c0005t0004g0275 a0002c0005t0004g0280 a0002c0005t0004g0285 a0002c0005t0004g0297 a0002c0005t0004g0298 a0002c0005t0004g0306 a0002c0005t0004g0307 a0002c0005t0004g0308 a0002c0005t0035g0317 a0002c0005t0035g0318 a0002c0005t0064g0245 a0002c0035t0001g0257 a0002c0039t0072g0314 a0002c0040t0073g0315 a0003c0013t0005g0232 a0003c0028t0005g0188 a0003c0041t0005g0094 a0005c0018t0004g0214 a0005c0018t0004g0215 a0006c0046t0012g0001 a0008c0042t0004g0231	220	318	0.6918	210	c.-3+ others(227): Show c.-3+20648_-3+20649insAGCAGCCCTGTTTCTTGGTGACCTGGGC CGAGTGTCTCTTCTGGCAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTC TCATCCGCAGCCCTGTTTCCTGGTGACCTGGGCCTAGTGTCTCTTCCAAC AGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCATCTGGCAGCCCTGT TTCCTGGTGACCTGGGCCGAGTGTCTCATCTG	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7919007	C C	CCAGATGA others(203): Show CCAGATGAGACACTCGGCCCAGGTCACCAGGAAACAGGGCTGCCAGATGA GACACTCGGCCCAGGTCACCAGGAAACAGGGCTGTTGGAAGAGACACTAG GCCCAGGTCACCAGGAAACAGGGCTGCGGATGAGACACTCGGCCCAGGTC ACCAGGAAACAGGGCTGCCAGAAGAGACACTTGGCCCAGGTCACCAAGAA ACAGGGCTGCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG03139.hp1 HG02257.hp2 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0030 a0001c0004 a0001c0030	a0001c0004t0006 a0001c0030t0038 a0001c0004t0006 a0001c0030t0038	a0001c0004t0006g0260 a0001c0004t0006g0261 a0001c0030t0038g0259 a0001c0004t0006g0260 a0001c0004t0006g0261 a0001c0030t0038g0259	3	318	0.0094	210	c.-3+ others(227): Show c.-3+20648_-3+20649insAGCAGCCCTGTTTCTTGGTGACCTGGGC CAAGTGTCTCTTCTGGCAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTC TCATCCGCAGCCCTGTTTCCTGGTGACCTGGGCCTAGTGTCTCTTCCAAC AGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCATCTGGCAGCCCTGT TTCCTGGTGACCTGGGCCGAGTGTCTCATCTG	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AFDN_chr6_167821911_167977023	167976498	T T	TGGGAGGA others(203): Show TGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGA GAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAG TGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTC ATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCCC TGCAGTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0267 a0002c0013t0002g0267	1	326	0.0031	210	c.65 others(221): Show c.6563_*6564insGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGC AGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTT GGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAG GAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGT GGGGGTCATTCCCCCTGCAGTGTGGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4476		chr6	TogoVar
AGBL4_chr1_48527854_50028954	49947954	A A	ATATATAT others(203): Show ATATATATAAATATATATATTTATAAATATATATTTATATATATAAATAT ATATATTTATAAATATATATTTATATATATAAATATATATTTATAAATAT ATATTTATATATATAAATATATATATTTATAAATATATATTTATATATAT AAATATATATATTTATAAATATATATTTATATATAAATATATATATTTAT AAATATATATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0032 a0001c0007t0003g0032	1	104	0.0096	210	c.34+ others(227): Show c.34+75808_34+75809insAATATATATTTATAAATATATATATTTA TATATAAATATATATTTATAAATATATATATTTATATATATAAATATATA TTTATAAATATATATATTTATATATATAAATATATATTTATAAATATATA TTTATATATATAAATATATATTTATAAATATATATATTTATATATATAAA TATATATTTATAAATATATATATTTATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49947954	A A	ATATATAT others(203): Show ATATATATAAATATATATATTTATAAATATATATTTATATATATAAATAT ATATATTTATAAATATATATTTATATATATAAATATATATTTATAAATAT ATATTTATATATATAAATATATATATTTATAAATATATATTTATATATAT AAATATATATATTTATAAATATATATTTATATATATAAATATATATATTT ATATATATATT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0094 a0006c0008t0004g0094	1	104	0.0096	210	c.34+ others(227): Show c.34+75808_34+75809insAATATATATATAAATATATATATTTATA TATATAAATATATATTTATAAATATATATATTTATATATATAAATATATA TTTATAAATATATATATTTATATATATAAATATATATTTATAAATATATA TTTATATATATAAATATATATTTATAAATATATATATTTATATATATAAA TATATATTTATAAATATATATATTTATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49947954	A A	ATATATAT others(203): Show ATATATATAAATATATATATTTATAAATATATATTTATATATATAAATAT ATATATTTATAAATATATATTTATATATATAAATATATATTTATAAATAT ATATTTATATATATAAATATATATTTATAAATATATATTTATATATATAA ATATATATATTTATAAATATATATTTATATATATAAATATATATATTTAT AAATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG03540.hp1 others(2): Show HG02809.hp2 HG03041.hp1 HG03540.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(2): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0004t0003 a0002c0003t0001	a0001c0001t0005g0028 a0001c0001t0010g0027 a0001c0001t0014g0031 others(2): Show a0001c0001t0005g0028 a0001c0001t0010g0027 a0001c0001t0014g0031 a0001c0004t0003g0026 a0002c0003t0001g0070	5	104	0.0481	210	c.34+ others(227): Show c.34+75808_34+75809insAATATATATTTATAAATATATATATTTA TATATATAAATATATATTTATAAATATATATATTTATATATATAAATATA TATTTATAAATATATATTTATATATATAAATATATATTTATAAATATATA TTTATATATATAAATATATATTTATAAATATATATATTTATATATATAAA TATATATTTATAAATATATATATTTATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15529621	A A	ATATATAT others(203): Show ATATATATACTATATATATTCTATATATAGAATATATATACTATATATAT TCTATATATAGAATATATATACTATATGTATTCTATATATAGAATACATA CAGTATATATATTCTATATATAGAATATATATAGAATATATATACTATAT TAATTCTATATATAGAATATATATAGAATATATATATAGAATATATATAG AATATATATTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG03486.hp1 others(2): Show HG02717.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 others(2): Show a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0002c0002t0001g0060 a0002c0002t0001g0061	5	236	0.0212	210	c.409 others(229): Show c.409+15150_409+15151insGAATATATATTCTATATATATTCTAT ATATATATTCTATATATATTCTATATATAGAATTAATATAGTATATATAT TCTATATATATTCTATATATAGAATATATATACTGTATGTATTCTATATA TAGAATACATATAGTATATATATTCTATATATAGAATATATATAGTATAT ATATTCTATATATAGAATATATATAGTATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318038	C C	CTTGCCCT others(203): Show CTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCC CTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCC CCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACA CCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0219 a0001c0001t0007g0219	1	268	0.0037	210	c.-37 others(221): Show c.-3792_-3791insTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCA CCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCT CCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCT CACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3675		chr5	TogoVar
ALLC_chr2_3653200_3707671	3704709	A A	AGGGGGGA others(203): Show AGGGGGGAGGGGCGTGGGGGAGGGGCATGGGGCAGAAACAGGGGTGTGGA GGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGGGC GTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGGGGTGTGGAGAGGGGC ATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCGTGGGGAGGAGTGTAG GGGAGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0033 a0006c0006t0001g0033	1	274	0.0037	210	c.21 others(221): Show c.2146_*2147insGGGGGGAGGGGCGTGGGGGAGGGGCATGGGGCAG AAACAGGGGTGTGGAGGAGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTG GGGGGCGTGGGGGGCGTGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGAGG GGTGTGGAGAGGGGCATGGGGGAGGGGTGTGGAGAGGGGCGTGGGGGGCG TGGGGAGGAGTGTAGGGGAGGGGGAG	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		2039		chr2	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGAGAG others(203): Show GGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGAGAGGG GGAGAGGGGGGAGAGGGGGAAGGGGGGGAGAGGGGAAGGGGGAGGGGAGG GGGGAGGGGGGAGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGG AGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGG GAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0003 a0001c0001t0030g0003	1	356	0.0028	210	c.667 others(225): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCTCCCCCCTCTCTC CCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCTCCCCTCCCCCTTCCCC TCTCCCCCCCTTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCC TCTCCCCTCTCCCCCCTCTCCCCCTCTCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKLE2_chr12_132720503_132766832	132759526	C C	CTATATGT others(203): Show CTATATGTGCTATATGATATACACGTATCATATGCCATGATATACGTATA TTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATTTTA TGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGATATA CGTATATTATACATCATATATAAAAACATTTTTATATAAAATATCAGTAT TTTATGTATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	350	0.0029	210	c.181 others(227): Show c.181+2091_181+2092insATATACATAAAATACTGATATTTTATAT AAAAATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGA TACGTGTATATCATATAGCACATATAATATACATAAAATACTGATATTTT ATATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGC ATATGATACGTGTATATCATATAGCACATATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89429144	G G	GCGCTCAG others(203): Show GCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTA GTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATT CTCAACTCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	310	0.0032	210	c.-14 others(231): Show c.-144-10777_-144-10776insTGAGAGTTGAGAATCCCTGCTGTG TACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAA CGTCTGAGCGTGAGAGTTGAGAATCCCTGCTGTGTACTAGAACGTCTGAG CGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAG TTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429174	T T	TTCTCAAC others(203): Show TTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAAC TCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGC TCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGT TCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTAGTAC ACAGCAGGGAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	310	0.0032	210	c.-14 others(231): Show c.-144-10807_-144-10806insGTCCCTGCTGTGTACTAGAACGTC TGAGCGTGAGAGTTGAGAATCCCTGCTGTGTACTAGAACGTCTGAGCGCG AGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGA GAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCT GCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429340	G G	GACTCTCA others(203): Show GACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTC GTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGT ACACAGCAGGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	310	0.0032	210	c.-14 others(231): Show c.-144-10973_-144-10972insACCTGCTGTGTACTAGAACGTCTG AGCGTGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGACTGAGCGCGAG AGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAGTTGAGA GTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGC TGTGTACTAGAACGTCTGAGCGCGAGAGTTGAGAGT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(203): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG02055.hp1 others(13): Show HG00642.hp2 HG01069.hp1 HG02055.hp1 HG02647.hp1 HG02818.hp2 HG03654.hp2 HG03831.hp2 NA18945.hp1 NA18954.hp2 NA18955.hp1 NA18975.hp1 NA18982.hp2 NA19009.hp1 NA19065.hp2 NA19070.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0001 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0120 others(13): Show a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0218 a0001c0001t0001g0260 a0001c0001t0008g0046 a0001c0001t0010g0097 a0001c0001t0010g0098	16	352	0.0455	210	c.723 others(227): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(203): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCC TTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTCCT TTCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	48	0.0208	210	c.252 others(231): Show c.2526+14945_2526+14946insGGGAGGAAGAAAGGAAGGAAGGAA GAAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAAGGAA AGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGA GGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(203): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTC TTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTCCTTCCTTCCTTCCTTTCT TCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	48	0.0208	210	c.252 others(231): Show c.2526+14945_2526+14946insGGGAGGGAGGAAGAAAGGAAGGAA GGAAGGAAGGAAGAAGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAA GGAAAGAAAGGAGGAAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGGAGAAAAAGAGAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO6_chr12_45211095_45437349	45248399	T T	TAAAGAAA others(203): Show TAAAGAAAATATATTTTATAATACAAAAAAAAATTAGCCGGGCGTAGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	234	0.0043	210	c.70+ others(227): Show c.70+32028_70+32029insTACAAAAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAAAATATATTTTATAA	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
APOB_chr2_20996429_21049073	21001204	T T	TTTTAATT others(203): Show TTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTA ATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTAT AAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATA TTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAAATTTTA ATTATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0027 a0027	a0027c0033 a0027c0033	a0027c0033t0001 a0027c0033t0001	a0027c0033t0001g0136 a0027c0033t0001g0136	1	350	0.0029	210	c.52 others(219): Show c.525_*526insTATTTTATAATTAAAATTTTTATAATTAAAATATTT ATAATTAAATATTTTATAATTAAAATATTTATAATTAAATATTTTATAAT TAAAATATTTATAATTAAATATTTTATAATTAAAATATTTATAATTAAAT ATTTTATAATTAAAATATTTATAATTAAATATTTTATAATTAAAATATTT ATAATTAAATATTTTATAATTAAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		224		chr2	TogoVar
APOL3_chr22_36135329_36165755	36165240	T T	TAAAAATT others(203): Show TAAAAATTACTCAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02055.hp2 HG02280.hp1 others(8): Show HG01496.hp1 HG02055.hp2 HG02280.hp1 HG02647.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG06807.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0001 a0001c0003t0001 a0002c0005t0001	a0001c0003t0001g0008 a0001c0003t0001g0062 a0001c0003t0001g0068 others(2): Show a0001c0003t0001g0008 a0001c0003t0001g0062 a0001c0003t0001g0068 a0001c0003t0001g0069 a0002c0005t0001g0061	11	366	0.0301	210	c.-46 others(221): Show c.-4660_-4659insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTGAGTAATTTTT	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding		4486		chr22	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCCGTG others(203): Show CCCCCGTGACCACACACTGGCAGTGAGCACTTCCCACCCCGTGACCACAC ATTTACAGTGAACACTTCCCACCCCGTGACCACACATTTACAGTGAACAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTG AGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	246	0.0041	210	c.-15 others(221): Show c.-1517_-1516insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTG CTCACTGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCGTGA others(203): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCG AGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	246	0.0041	210	c.-15 others(221): Show c.-1517_-1516insTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687179	C C	CGAGCACT others(203): Show CGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACC CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	246	0.0041	210	c.-15 others(221): Show c.-1576_-1575insACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1334		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(203): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCG AGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	246	0.0041	210	c.-15 others(221): Show c.-1589_-1588insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCAC TGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687391	G G	GGCGAGCA others(203): Show GGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCA CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACT TCCCACCCCGTGACCACACACTAGCGGCGAGCACTTCCCACCCCGTGACC ACTCATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0022 a0001c0001t0018g0022	1	246	0.0041	210	c.-17 others(221): Show c.-1788_-1787insTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCG CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1546		chr8	TogoVar
ARHGEF1_chr19_41878184_41912452	41896814	C C	CTCTCTCA others(203): Show CTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCCCTCCTCTCTCACCT CCCCTCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCCTCCTCT CTCACCTCCCCTCTCCTCTCTCACCTCCCCCATCCTCTCTCACCTCCCCC CCTCCTCTCTCACCTACCCCCTCCTCTCACCTCCCCCCTCCTCTCTCACC TCCCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	234	0.0043	210	c.112 others(227): Show c.1121+347_1121+348insCTCCTCTCTCACCTCCCCCCCTCCTCTC TCACCTCCCCTCTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCC TCCTCTCTCACCTCCCCTCTCCTCTCTCACCTCCCCCATCCTCTCTCACC TCCCCCCCTCCTCTCTCACCTACCCCCTCCTCTCACCTCCCCCCTCCTCT CTCACCTCCCCCTCTCTTCTCTCACCTCCCCC	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111221360	T T	TATCTATA others(203): Show TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTC TATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATA TATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATATAGATATATATGTCTATATATA TCTATATATAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0005 a0003c0011t0005	a0003c0011t0005g0191 a0003c0011t0005g0191	1	274	0.0037	210	c.670 others(227): Show c.670+3482_670+3483insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATATAG ATATATATGTCTATATATATCTATATATAGAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARSB_chr5_78772209_78990310	78818271	C C	CACAACTA others(203): Show CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG ATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATA TACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAGATCTCTGTAG ATCTCTGATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	360	0.0028	210	c.121 others(231): Show c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT CAGAGATCTACAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTT AGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ASMTL_chrX_1398139_1457909	1408471	A A	ACAACACT others(203): Show ACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGGCAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCACTTGAGCGCAGGAGGTCAAGGCTGCAGTG AACTATGATGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0099 a0001c0040t0001g0099	1	185	0.0054	210	c.164 others(229): Show c.1645+4260_1645+4261insCCATCATAGTTCACTGCAGCCTTGAC CTCCTGCGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTATTTGGGAG TACCAGCATTTGGCTGGAGGGCAGTGTTGCCATCATAGTTCACTGCAGCC TTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTATTT GGGAGTACCAGCATTTGGCTGGAGGGCAGTGTTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(203): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19043.hp2 HG01255.hp1 NA19043.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0194 a0004c0005t0001g0198 a0004c0005t0001g0194 a0004c0005t0001g0198	2	362	0.0055	210	c.16+ others(225): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112873159	G G	GGTGTGAG others(203): Show GGTGTGAGGTGTGGCTTTGTCCTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGT GTGGCTTTGTCTTCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02809.hp2 others(9): Show HG02109.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0019 others(3): Show a0001c0002 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0045	a0001c0002t0008 a0001c0002t0014 a0001c0002t0015 others(6): Show a0001c0002t0008 a0001c0002t0014 a0001c0002t0015 a0001c0002t0070 a0001c0009t0075 a0001c0019t0015 a0001c0020t0068 a0001c0021t0024 a0001c0045t0014	a0001c0002t0008g0066 a0001c0002t0014g0197 a0001c0002t0014g0213 others(9): Show a0001c0002t0008g0066 a0001c0002t0014g0197 a0001c0002t0014g0213 a0001c0002t0015g0054 a0001c0002t0015g0163 a0001c0002t0070g0199 a0001c0009t0075g0153 a0001c0019t0015g0147 a0001c0020t0068g0055 a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0045t0014g0254	12	254	0.0472	210	c.305 others(227): Show c.3058-394_3058-393insCTCCTGAGCGGTGTGAGGTGTGGCTTTG TCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTTCCTGAACAGTGTGAGGTGTGGCTTTGTCTTCCTGAG CGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTG TCTTCCTGAACAGTGTGAGGTGTGGCTTTGTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(203): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA19085.hp2 NA18940.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	2	391	0.0051	210	c.36 others(221): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAAGGAGAGGGGGGATGGG GATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0030 a0007c0014t0002g0030	1	298	0.0034	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCCCCTCTCCTTCCC CCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGG GGGAGGGGAGGGGGAGGGGAAGAGGGAGGGGGAGAGGGGGGAGGGAGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	298	0.0034	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCTCTTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCATCCCCCTCCCCCCTCTCCTTCCCCCTCCCCCTCCC CCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0251 a0001c0004t0003g0251	1	298	0.0034	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCCCTCCCTCCCCTCCCCCATCCCCA TCCCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCT CCCCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGG GGGGAAGGAGAGGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	298	0.0034	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCCTCCCCCATCCCCCTCTCCTTCCCCCCTCCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(203): Show GGGAGGGAGGGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGGA GGGGGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGG GGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGA TGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0291 a0001c0003t0003g0291	1	298	0.0034	210	c.51+ others(223): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATCC CCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCTCCCTCC CCCTCCCCCCTCCCCCCTCCCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar

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