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
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(496): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCATTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCA GGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATC CACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCC CCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02074.hp2 HG02135.hp2 others(2): Show HG01167.hp1 HG02074.hp2 HG02135.hp2 HG03453.hp2 NA18612.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0007c0014	a0001c0001t0005 a0001c0001t0037 a0001c0004t0001 others(2): Show a0001c0001t0005 a0001c0001t0037 a0001c0004t0001 a0001c0008t0001 a0007c0014t0018	a0001c0001t0005g0100 a0001c0001t0037g0058 a0001c0004t0001g0046 others(2): Show a0001c0001t0005g0100 a0001c0001t0037g0058 a0001c0004t0001g0046 a0001c0008t0001g0044 a0007c0014t0018g0102	5	133	0.0376	503	c.-21 others(522): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCC TGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAG TGAGTGTGGATGTGGGGAAGCCTGGGTGGGGGACAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTC GGGGCAATGAGATTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGC CTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCA GTGAGTGTGGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(496): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCATTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCTCCCA GGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATC CACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCC CCCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	133	0.0075	503	c.-21 others(522): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCC TGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAG TGAGTGTGGATGTGGGGAAGCCTGGGTGGGGGACAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTC GGGGCAATGAGATTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGC CTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGGCA GTGAGTGTGGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	356244	C C	CACTTACT others(496): Show CACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAAC AGTCGTCTTCACAGGCGACCGCGCACCACACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC ATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGTCTTCACAGGCGACCGCGCACCACACTTACAGTCGTCTTCACAGGCGA CCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCAC ACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00280.hp2 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0065 a0001c0001t0009g0066 a0001c0001t0001g0065 a0001c0001t0009g0066	2	133	0.0150	503	c.-37 others(514): Show c.-3746_-3745insAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTAAGTGTGGTG CGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCT GTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGAC TGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGT GTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGG TCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAA GACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTA GTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3438		chr17	TogoVar
RTN1_chr14_59590983_59875776	59750547	T T	TATATATA others(496): Show TATATATATCTATAATATATATAATATATCTATAATATATAATATATCTA TAATATATATATTATATCTATAATATATAATATATCTATAATATATATAT TATATCTATAATATATAATATATCTATAATATATATATTATATCTATAAT ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATATATTATATCTATAATATATAATATATCTATAATATATATATTAT ATCTATAATATATAATATATCTATAATATATATATTATATCTATAATATA TAATATATCTATAATATATAATATATCTATAATATATATATTATATATAT AATATATAATATATTATATATATAATATATAATATATTATATATATAATA TATAATATATTATATATATAATATATTATATGTAATATATATATGTTATA TCTATAATATATATTATATCTATAATATATAATATATTATATCTATAATA TATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19012.hp1 NA18995.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0001g0015 a0001c0001t0001g0060	2	172	0.0116	503	c.242 others(520): Show c.242-4067_242-4066insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATATTATAGATATAACATATATATATTACATATA ATATATTATATATATAATATATTATATATTATATATATAATATATTATAT ATTATATATATAATATATTATATATTATATATATAATATATATATTATAG ATATATTATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATTATATATTATAGATATAATATATATATTATAGATATAT TATATATTATAGATATAATATATATATTATAGATATATTATATATTATAG ATATAATATATATATTATAGATATATATTATAGATATAATATATATATTA TAGATATATTATATATTATAGATATAATATATATATTATAGATATATTAT ATATTATAGATATAATATATATATTATAGATATATTATATATTATAGATA TATTATATATATTATAGATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750547	T T	TATATATA others(496): Show TATATATATCTATAATATATATAATATATCTATAATATATAATATATCTA TAATATATATATTATATCTATAATATATAATATATCTATAATATATATAT TATATCTATAATATATAATATATCTATAATATATATATTATATCTATAAT ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATATATTATATCTATAATATATAATATATCTATAATATATATATTAT ATCTATAATATATAATATATCTATAATATATATATTATATCTATAATATA TAATATATCTATAATATATAATATATCTATAATATATATATTATATATAT AATATATAATATATTATATATATAATATATAATATATTATATATATAATA TATAATATATTATATCTATAATATATTATATGTAATATATATATGTTATA TCTATAATATATATTATATCTATAATATATAATATATTATATCTATAATA TATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00741.hp1 others(16): Show HG00323.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01952.hp2 HG01993.hp2 HG02055.hp2 HG03195.hp1 HG06807.hp2 NA18747.hp2 NA18965.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 others(16): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0154	19	172	0.1105	503	c.242 others(520): Show c.242-4067_242-4066insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATATTATAGATATAACATATATATATTACATATA ATATATTATAGATATAATATATTATATATTATATATATAATATATTATAT ATTATATATATAATATATTATATATTATATATATAATATATATATTATAG ATATATTATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATTATATATTATAGATATAATATATATATTATAGATATAT TATATATTATAGATATAATATATATATTATAGATATATTATATATTATAG ATATAATATATATATTATAGATATATATTATAGATATAATATATATATTA TAGATATATTATATATTATAGATATAATATATATATTATAGATATATTAT ATATTATAGATATAATATATATATTATAGATATATTATATATTATAGATA TATTATATATATTATAGATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750547	T T	TATATATA others(496): Show TATATATATCTATAATATATATAATATATCTATAATATATAATATATCTA TAATATATATATTATATCTATAATATATAATATATCTATAATATATATAT TATATCTATAATATATAATATATCTATAATATATATATTATATCTATAAT ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATATATTATATCTATAATATATAATATATCTATAATATATATATTAT ATCTATAATATATAATATATCTATAATATATATATTATATCTATAATATA TAATATATCTATAATATATAATATATCTATAATATATATATTATATATAT AATATATAATATATTATATATATAATATATAATATATTATATATATAATA TATTATATATTATATCTATAATATATTATATGTAATATATATATGTTATA TCTATAATATATATTATATCTATAATATATAATATATTATATCTATAATA TATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	172	0.0058	503	c.242 others(520): Show c.242-4067_242-4066insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATATTATAGATATAACATATATATATTACATATA ATATATTATAGATATAATATATAATATATTATATATATAATATATTATAT ATTATATATATAATATATTATATATTATATATATAATATATATATTATAG ATATATTATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATTATATATTATAGATATAATATATATATTATAGATATAT TATATATTATAGATATAATATATATATTATAGATATATTATATATTATAG ATATAATATATATATTATAGATATATATTATAGATATAATATATATATTA TAGATATATTATATATTATAGATATAATATATATATTATAGATATATTAT ATATTATAGATATAATATATATATTATAGATATATTATATATTATAGATA TATTATATATATTATAGATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750547	T T	TATATATA others(496): Show TATATATATCTATAATATATATAATATATCTATAATATATAATATATCTA TAATATATATATTATATCTATAATATATAATATATCTATAATATATATAT TATATCTATAATATATAATATATCTATAATATATATATTATATCTATAAT ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATATATTATATCTATAATATATAATATATCTATAATATATATATTAT ATCTATAATATATAATATATCTATAATATATATATTATATCTATAATATA TAATATATCTATAATATATAATATATCTATAATATATATATTATATCTAT AATATATAATATATTATATATATAATATATAATATATTATATATATAATA TATAATATATTATATCTATAATATATTATATGTAATATATATATGTTATA TCTATAATATATATTATATCTATAATATATAATATATTATATCTATAATA TATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	172	0.0058	503	c.242 others(520): Show c.242-4067_242-4066insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATATTATAGATATAACATATATATATTACATATA ATATATTATAGATATAATATATTATATATTATATATATAATATATTATAT ATTATATATATAATATATTATATATTATAGATATAATATATATATTATAG ATATATTATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATTATATATTATAGATATAATATATATATTATAGATATAT TATATATTATAGATATAATATATATATTATAGATATATTATATATTATAG ATATAATATATATATTATAGATATATATTATAGATATAATATATATATTA TAGATATATTATATATTATAGATATAATATATATATTATAGATATATTAT ATATTATAGATATAATATATATATTATAGATATATTATATATTATAGATA TATTATATATATTATAGATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SBNO2_chr19_1102638_1179268	1166017	C C	CCTCAGAC others(496): Show CCTCAGACCCCAGATCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGA CCCCAGATCCTAGACCCCAGACCTCAGACCCCAGATCTCAGACCCCAGAT CCCAGACCCCAGATCTCAGACCCCAGATCCCAGACCCCAGATCTCAGACC CCAGATCCTAGATCCCAGACCCCAGATCTCAGACCCCAGACCCCAGATCC CAGACCCCAAGATCCCAGACCCCAGATCCTAGATCCCAGACCTCAGACCC CAGATCTCAGACCCCAGATCTCAGACCCCAGATCCCAGATCCCAAAACCC AGACCCCAGACCTCAGACCTCAGACCCCCAGACCCCAGATCCCAGACCCC AGACCTCAGACCCCAGATCCCAGACCCCAGATCACCAGATCTCAGACCCC AGACCCCAGATCCCAGACTTCAGATCCCTAGACCTCAGACCCCAGACCCC AGATCCCAGACCCCAAACCTCAGACCCCAGATCCCAGACCCCAGATCACC AGAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0016 a0006c0029 a0001c0016 a0006c0029	a0001c0016t0005 a0006c0029t0005 a0001c0016t0005 a0006c0029t0005	a0001c0016t0005g0030 a0006c0029t0005g0033 a0001c0016t0005g0030 a0006c0029t0005g0033	2	203	0.0099	503	c.-12 others(522): Show c.-127+8154_-127+8155insATCTGGTGATCTGGGGTCTGGGATCT GGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTCTA GGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGATCT GGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTCTG GGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATCTG GGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCTAG GATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGA GATCTGGGGTCTGGGATCTAGGATCTGGGGTCTGAGATCTGGGGTCTGGG ATCTGGGGTCTGAGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGG TCTGAGGTCTGGGGTCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGA TCTGGGGTCTGAGATCTGGGGTCTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(496): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCA CCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCT GCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTG GGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG AGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACC ACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGC CCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGG CGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0219 a0001c0001t0017g0219	1	410	0.0024	503	c.-14 others(514): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGG GCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGA GCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCA CCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCC CTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGC GGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGC ACCACCTGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(496): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGC TGGAGTACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGT TCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGC TCGCCACCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCA CTGTTGGCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTT GGCCTCCCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGG GAAAGTTCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCC GTGATCACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGG CAAACAAGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTC AAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02615.hp1 HG03831.hp1 others(3): Show HG00735.hp1 HG02615.hp1 HG03831.hp1 NA18966.hp1 NA18993.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0024 a0001c0001t0002 a0001c0002t0001 a0001c0003t0024	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0002t0001g0030 others(3): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0002t0001g0030 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0003t0024g0029	6	306	0.0196	503	c.17+ others(520): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTT GCCTTTGAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(496): Show AAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTA AAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTT TAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATT TTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATA TTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAA TATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAA AATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAA AAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTT AAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTT TTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACAC TTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	388	0.0026	503	c.144 others(520): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAA AACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAA AAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTT AAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTT TTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATAT TTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAAT ATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAA ATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAA AAATATTTTTAAAAAACACTTTTAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(496): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GGAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGA GGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGG GAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGC GGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	503	c.34 others(512): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCC CTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCC CCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCACCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCC CCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(496): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATAATATAACTATATATTATATATAATAT ATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0257 a0001c0001t0006g0257	1	268	0.0037	503	c.73 others(514): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATAATATAACTATA TATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SYN3_chr22_32502820_33063381	32572436	T T	TTCCCTCC others(496): Show TTCCCTCCCTCCTTTCCTTCCTTCCTTCCTCCTTCCTTCCCTCCTTTCCT TCCTTCCTTCTCTCCTCCTTTCCTTCCTTCTCTCCCCCTTCCTTCCCTCC CTTCCTCCCTCCCTCCCTTCCTTCTTTTCCTTCCCTTCCCTTCTCTTCCT TCCTTCCCCCTTCCTTCCCTTCTTCCTTAGCTCCTTCTCTTCATTTCCTT CCTTCCTTCCCCTTTTCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCT TCCCTCCCTCCCTTCCTGCCTTTCCTTCCCTCCCTCCCTCCTTCCTTTCC TCCCTTCCTTCCTTCTTTCTCCTTCCCTCCCTTCCTTTTCTTCCTTCCTT CCCCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCCTTACTCCCTTCC CTTCCTTCCGTCCCTCCCTTCCTTCCTTCCTTCCCCTTTTCCTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTTCCTGCCTTTCCTTCCC TCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG02257.hp2 others(1): Show HG00323.hp2 HG00741.hp2 HG02257.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0054 a0001c0001t0070 others(1): Show a0001c0001t0002 a0001c0001t0054 a0001c0001t0070 a0002c0002t0004	a0001c0001t0002g0018 a0001c0001t0054g0002 a0001c0001t0070g0006 others(1): Show a0001c0001t0002g0018 a0001c0001t0054g0002 a0001c0001t0070g0006 a0002c0002t0004g0159	4	184	0.0217	503	c.774 others(522): Show c.774+24237_774+24238insGGGAGGGAAGGAAAGGCAGGAAGGGA GGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGAAAAGGGGAAGG AAGGAAGGAAGGGAGGGACGGAAGGAAGGGAAGGGAGTAAGGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGGGGGAAGGAAGGAAGAAAAGGAAGGG AGGGAAGGAGAAAGAAGGAAGGAAGGGAGGAAAGGAAGGAGGGAGGGAGG GAAGGAAAGGCAGGAAGGGAGGGAGGGAAGGAGGGAGGGAGGGAAGGAGG GAGGGAGGGAGGAAAAGGGGAAGGAAGGAAGGAAATGAAGAGAAGGAGCT AAGGAAGAAGGGAAGGAAGGGGGAAGGAAGGAAGAGAAGGGAAGGGAAGG AAAAGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAAGGAAGGGGGAGAGA AGGAAGGAAAGGAGGAGAGAAGGAAGGAAGGAAAGGAGGGAAGGAAGGAG GAAGGAAGGAAGGAAAGGAGGGAGGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(496): Show ACCATCCCCCATCGTATACACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCT ATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACC ATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCC CACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCA TCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACC TACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACC CACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACC CATC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	258	0.0039	503	c.113 others(522): Show c.113-25872_113-25871insCATCCCCCATCGTATACACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTAT CCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCTGCCAT CCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCA TCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCA TCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATC CACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTAC CTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTAC CCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(496): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCT ATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACC ATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCC CACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCA TCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACC TACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACC CACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACC CATC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG02015.hp1 others(5): Show HG00642.hp1 HG00738.hp2 HG02015.hp1 HG02602.hp1 HG02809.hp1 HG02965.hp2 HG03239.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0100 a0001c0001t0002g0046 a0001c0001t0002g0252 others(5): Show a0001c0001t0001g0100 a0001c0001t0002g0046 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0006g0208 a0001c0001t0013g0049 a0001c0001t0021g0229 a0001c0001t0023g0116	8	258	0.0310	503	c.113 others(522): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTAT CCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCTGCCAT CCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCA TCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCA TCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATC CACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTAC CTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTAC CCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
THNSL2_chr2_88165346_88191627	88181332	C C	CCTCTCTC others(496): Show CCTCTCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCCTCTCTTCTCTCCTCTCTCTCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTTCTCTCTCTCTCTCTCG TCCTCTCCTCTCCTCTCTCTGCTCCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCTCTCTCCTC TCTCTCCCCTCTCCTCTCTCCTCTCTCGTCTCCTCTCTCTCTCCTCTCTC TCTCGCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCCCTCTCT CCTCTCCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTC CTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	54	0.0185	503	c.803 others(520): Show c.803-1360_803-1359insTCTCCTCTCTCTCTCTCTCCTCTCTCTC CTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTTCTCTCCTCTCT CTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTTCT CTCTCTCTCTCTCGTCCTCTCCTCTCCTCTCTCTGCTCCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCT CTCTCTCTCTCCTCTCTCTCCCCTCTCCTCTCTCCTCTCTCGTCTCCTCT CTCTCTCCTCTCTCTCTCGCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCT CTCCTCTCTCCCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCCCCTCTCTCCTCTCCCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCCTCTCTCTCCTCTCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(496): Show ATATTATATATACATTATATATATATATTATATATACATTATATATATAT ATTATATATACATTATATATATTATATATTATATATACATTATATATATT ATATATTATATATACATTATATATATTATATATTATATATACATTATATA TATTATATATTATATATACATTATATATATTATATATTATATATACATTA TATATATTATATATTATATATACATTATATATATTATATATTATATATAC ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATATTATATATTATATATACATTATATATATTATATATT ATATATACATTATATATATTATATATTATATATACATTATATATATTATA TATTATATATACATTATATATATTATATATTATATATACATTATATATAT TATATATTATATATACATTATATATATTATATATTATATATACATTATAT ATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	224	0.0045	503	c.102 others(522): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATATATATAATGTATATATA ATATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP73_chr1_3647516_3741201	3706425	G G	GGGGGTAA others(496): Show GGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCTGGGGAGAGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGGGTAATAG GGACAATCACGGTGCCCGCCGCAGGCCTGGGGAGAGGGGTAATAGGGACA ATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGGGTAATAGGGACAATC ACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGT GCCCGCCGCAGGCCTGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCG CCGCAGGCCCGGGGAGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCG CAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGC CCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGG GAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	358	0.0028	503	c.187 others(520): Show c.187-1075_187-1074insGGTAATAGGGACAATCACGGTGCCCGCC GCAGGCCTGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGG CCCGGGGAGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCT GGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGA GAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGG GGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCTGGGGAGAGGGGTA ATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGGGTAATA GGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGAC AATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCA CGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTG CCCGCCGCAGGCCCGGGGAGAGGGG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(496): Show ACACACCACACAAACCACACACCCCACACACACCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCCCCACACCACACCC CATACACACCACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACCACACCCCACACACACCACACACCCCCCACACACCACACACCATA CACACCACACCCCACACACACCACACCCCCCACACACCACACCCCACACA CCACACCCCACACACACCACACACCACACACACCACACCCCATACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCACACACCACAC ACCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	338	0.0030	503	c.35 others(522): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACAC CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCC CACACACCACACACCATACACACCACACCCCACACACACCACACCCCCCA CACACCACACCCCACACACCACACCCCACACACACCACACACCACACACA CCACACCCCATACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCACACACCACACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870876	A A	ACCCCACA others(496): Show ACCCCACACACACCACACCCCCACACACCACACACACACATCACACACCA CACACACCACATACCCACACACACCCACCACCCCACACACCCCACACCCC ACACCACCATCACACCCCACACACACCACACCCCCCACACCCACACCCCA CACCCCACACACACACACACCCCACACACACCACACCACCCCAAACACAC ACCCACACACACCACACCCCACACACACACACACCCACACACCCCACACA CCCCACACACACCACACACCCCACACACCACACACACCCACACACACCAC ACCCACACACACCCACACACACACACCCACACACACCACACCCCACACAC ACCACACACCCCACCACACCCCACCCCACACACACCCCCCCCACACCACA CCCCACACACCCCACACCCACACCACACCACACACCCCACCACACACACC CCTACCACCACACCCCACACACACCACACCCCACACACACCCACCCCACA CCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	338	0.0030	503	c.35 others(522): Show c.35+22144_*35+22145insCCCACACACACCACACCCCCACACAC CACACACACACATCACACACCACACACACCACATACCCACACACACCCAC CACCCCACACACCCCACACCCCACACCACCATCACACCCCACACACACCA CACCCCCCACACCCACACCCCACACCCCACACACACACACACCCCACACA CACCACACCACCCCAAACACACACCCACACACACCACACCCCACACACAC ACACACCCACACACCCCACACACCCCACACACACCACACACCCCACACAC CACACACACCCACACACACCACACCCACACACACCCACACACACACACCC ACACACACCACACCCCACACACACCACACACCCCACCACACCCCACCCCA CACACACCCCCCCCACACCACACCCCACACACCCCACACCCACACCACAC CACACACCCCACCACACACACCCCTACCACCACACCCCACACACACCACA CCCCACACACACCCACCCCACACCACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(496): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCC CCTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01496.hp2 HG02602.hp1 others(6): Show HG01071.hp1 HG01496.hp2 HG02602.hp1 HG03492.hp1 HG03834.hp2 HG04184.hp1 HG06807.hp2 NA18970.hp1 NA19065.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0002c0014 a0004c0004 others(1): Show a0002c0002 a0002c0014 a0004c0004 a0005c0005	a0002c0002t0001 a0002c0014t0004 a0004c0004t0003 others(1): Show a0002c0002t0001 a0002c0014t0004 a0004c0004t0003 a0005c0005t0003	a0002c0002t0001g0001 a0002c0002t0001g0143 a0002c0002t0001g0198 others(6): Show a0002c0002t0001g0001 a0002c0002t0001g0143 a0002c0002t0001g0198 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0014t0004g0205 a0002c0014t0004g0206 a0004c0004t0003g0151 a0005c0005t0003g0092	9	246	0.0366	503	c.53- others(516): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC CTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253208	T T	TCCCCCTC others(496): Show TCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCC TCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCC CTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTC CTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCCCTC CCCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0097 a0002c0002t0009g0097	1	246	0.0041	503	c.53- others(516): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC CTTCCCCCTCCCCCTCCCCCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR35_chr2_19905263_19995105	19985275	G G	GCCATCAT others(496): Show GCCATCATCCTCAAACCCTACCACAAGCAGCTCCAACCCAGGGCCATCAT CCTCAAACCCTACCACAAGCAGCTCCAACCCAGGGCCATCATCCTCAAAC CCTACCACAAGCAGCTCCAACCCAGGGCCATCATCCTCAAACCCTACCAC AAGCAGCTCCAACCCAGGGCCATCATCCTCAAACCCTACCACAAGCAGCT CCAACCCAGGGCCATCATCCTCAACCCTACCACAAGCAGCTCCAACCCAG GGCCATCATCCTCAAACCCTACTACCTGCAGCTCCAACCCAGGGTCATCG TTCTCCAACCCTACCACCTGCAGCTCCAGCCCAAGGCCATCATCCTCAAA CCCTACAACAAGCAGCTCCAACCCAGGGTTATCATTCTCAAACCCTACCA CAAGCAGCTCCAACCCAGGACCATCATCCTCAAACCCTACCACAAGCAGC TCCAACCCAGGGCCATCATCCTCAAACCCTACCACAAGCAGCTCCAACCC AGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00609.hp2 others(52): Show HG00099.hp1 HG00280.hp2 HG00609.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02145.hp1 HG02155.hp1 HG02300.hp2 HG02451.hp2 HG02615.hp2 HG02735.hp1 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03927.hp1 HG04115.hp1 NA18944.hp2 NA18950.hp2 NA18956.hp2 NA18965.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp2 NA19007.hp1 NA19054.hp2 NA19086.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0009 a0012c0021 a0001c0001 a0001c0009 a0012c0021	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(8): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0009t0002 a0001c0009t0022 a0012c0021t0002	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(45): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0130 a0001c0001t0007g0071 a0001c0001t0011g0021 a0001c0001t0017g0062 a0001c0001t0018g0110 a0001c0001t0019g0129 a0001c0001t0020g0104 a0001c0001t0021g0038 a0001c0009t0002g0095 a0001c0009t0002g0097 a0001c0009t0002g0098 a0001c0009t0022g0096 a0012c0021t0002g0073	55	398	0.1382	503	c.143 others(520): Show c.143-2742_143-2741insTCCTGGGTTGGAGCTGCTTGTGGTAGGG TTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGA TGATGGTCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGAATGATAACC CTGGGTTGGAGCTGCTTGTTGTAGGGTTTGAGGATGATGGCCTTGGGCTG GAGCTGCAGGTGGTAGGGTTGGAGAACGATGACCCTGGGTTGGAGCTGCA GGTAGTAGGGTTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAG GGTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGG ATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGATGATGGC CCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGATGATGGCCCTGGGTT GGAGCTGCTTGTGGTAGGGTTTGAGGATGATGGCCCTGGGTTGGAGCTGC TTGTGGTAGGGTTTGAGGATGATGG	WDR35	ENSG00000118965.16	transcript	ENST00000281405.9	protein_coding	2/26			chr2	TogoVar
WDR35_chr2_19905263_19995105	19985278	A A	ATCATCCT others(496): Show ATCATCCTCAAACCCTACCACAAGCAGCTCCAACCCAGGGCCATCATCCT CAAACCCTACCACAAGCAGCTCCAACCCAGGGCCATCATCCTCAAACCCT ACCACAAGCAGCTCCAACCCAGGGCCATCATCCTCAAACCCTACCACAAG CAGCTCCAACCCAGGGCCATCATCCTCAAACCCTACCACAAGCAGCTCCA ACCCAGGGCCATCATCCTCAACCCTACCACAAGCAGCTCCAACCCAGGGC CATCATCCTCAAACCCTACTACCTGCAGCTCCAACCCAGGGTCATCGTTC TCCAACCCTACCACCTGCAGCTCCAGCCCAAGGCCATCATCCTCAAACCC TACAACAAGCAGCTCCAACCCAGGGTTATCATTCTCAAACCCTACCACAA GCAGCTCCAACCCAGGACCATCATCCTCAAACCCTACCACAAGCAGCTCC AACCCAGGGCCATCATCCTCAAACCCTACCACAAGCAGCTCCAACCCAGG ACCG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp2 HG02109.hp1 others(8): Show HG01346.hp1 HG01934.hp2 HG02109.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0007 a0001c0001t0008g0024 a0001c0001t0008g0026 others(7): Show a0001c0001t0008g0007 a0001c0001t0008g0024 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0011g0025 a0001c0001t0011g0115	11	398	0.0276	503	c.143 others(520): Show c.143-2745_143-2744insCGGTCCTGGGTTGGAGCTGCTTGTGGTA GGGTTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGA GGATGATGGTCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGAATGATA ACCCTGGGTTGGAGCTGCTTGTTGTAGGGTTTGAGGATGATGGCCTTGGG CTGGAGCTGCAGGTGGTAGGGTTGGAGAACGATGACCCTGGGTTGGAGCT GCAGGTAGTAGGGTTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGG TAGGGTTGAGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTG AGGATGATGGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGATGAT GGCCCTGGGTTGGAGCTGCTTGTGGTAGGGTTTGAGGATGATGGCCCTGG GTTGGAGCTGCTTGTGGTAGGGTTTGAGGATGATGGCCCTGGGTTGGAGC TGCTTGTGGTAGGGTTTGAGGATGA	WDR35	ENSG00000118965.16	transcript	ENST00000281405.9	protein_coding	2/26			chr2	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(496): Show ATATATAATATATATATATTATATATATATATAATATATATATATTATAT ATATATATAATATATATATATTATATATATAATATATATATATTATATAT ATATATAATATATATAATATATATATAATATATATATATTATATATATAT TATATATATTATATATATTATATATATATTATATATATTATATATATATA ATATATATAATATATATATAATATATATTATATATATAATATATATTATA TATATAATATATATATTTAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTTAATATATATTATATATATAATATATATATTA TATATATAATATATATATAATATATATATTATATATATAATATATATATT ATATATATATAATATATATATTTAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTAATATATATTATATATATAATATATA TATT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0017 a0003c0004t0001g0017	1	330	0.0030	503	c.38 others(514): Show c.3884_*3885insAATATATATATTATATATATAATATATATTAAAT ATATATATTATATATATAATATATATTATATATATAATATATATATTAAA TATATATATTATATATATATAATATATATATTATATATATAATATATATA TTATATATATATTATATATATAATATATATATTATATATATAATATATAT TAAATATATATATTATATATATAATATATATTATATATATAATATATATA TTAAATATATATATTATATATATAATATATATTATATATATAATATATAT TATATATATATTATATATATTATATATATATAATATATATAATATATATA TAATATATATAATATATATAATATATATATAATATATATATATTATATAT ATATTATATATATTATATATATATATAATATATATATATTATATATATAA TATATATATATTATATATATATATAATATATATATATTATATATATATAT AATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(496): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATGTCACATATATCACATGTGATATAT GTCATATATATCATATATATGATATATATCATATATATCATATATATGAT ATATATCATATATCATATATATGATATATATCACATATATATATCATATA TATCACATATATATCATATATATCATATATATATCATATATATGATATAT ATCACATATATATCATATATATCATATATATATCATATATATGATATATA TCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	503	c.-35 others(514): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATGTCACATATA TCACATGTGATATATGTCATATATATCATATATATGATATATATCATATA TATCATATATATGATATATATCATATATCATATATATGATATATATCACA TATATATATCATATATATCACATATATATCATATATATCATATATATATC ATATATATGATATATATCACATATATATCATATATATCATATATATATCA TATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172215	A A	AGTGGGAT others(497): Show AGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAAT GAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGT GGGATGCATAAATGAGTGAGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGG TGGGATGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGTGGG ATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAA ATGGGTGGGTGGGATGGATAAATGGGTGGGATGGATGGATAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATG GCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATG AGTGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG02818.hp2 others(1): Show HG00639.hp2 HG02109.hp1 HG02818.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0049 a0002c0068 a0001c0001 a0001c0049 a0002c0068	a0001c0001t0001 a0001c0049t0001 a0002c0068t0001 a0001c0001t0001 a0001c0049t0001 a0002c0068t0001	a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0049t0001g0352 others(1): Show a0001c0001t0001g0233 a0001c0001t0001g0305 a0001c0049t0001g0352 a0002c0068t0001g0097	4	357	0.0112	504	c.278 others(523): Show c.2787+1068_2787+1069insCCACTCATTTAGCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATC CATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATC CCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCAT TTATCCATCCCACCCACTCATTTATCCATCCCACTCACTCATTTATGCAT CCCACCCACTCATTTATCCATCCATCCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTA TCCATCCCACTCACTCATTTATGCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCC ATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCC ATCCCACCCACCCATTTATCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(497): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0015 a0003c0016t0015	a0003c0016t0015g0241 a0003c0016t0015g0241	1	354	0.0028	504	c.523 others(523): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS19_chr5_129455298_129743683	129578103	C C	CATATGCA others(497): Show CATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATA TGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTA CATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATG CATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACG TATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATA CCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTA TATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACG TACATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATA TGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTA CGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACATA TACCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18947.hp1 NA18990.hp1 others(1): Show HG03041.hp2 NA18947.hp1 NA18990.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0016 a0002c0002t0001 a0002c0002t0016	a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 others(1): Show a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0016g0088	4	226	0.0177	504	c.137 others(525): Show c.1373-18118_1373-18117insGTACGTATACGTACATATACCTAT ATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGT ACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTATAT GTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACGTAC ATATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGC ATGTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGT ATACGTACATATACCTATATGCATGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADARB2_chr10_1172313_1742525	1340591	G G	GCCCCACA others(497): Show GCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACACACCCCACA GCGGCAATAACCGGCATCCACCAGAGAACCACGTGCCCCACAGCGGCAAT AACCGGCATCCACCAGAGAACCACACACCCCACAGCGGCAATAACCAGCA TCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCAGCATCCACCAG AGAACCACACACCCCACAGCGGCAATAACCAGCATCCACCAGAGAACCAC GTGCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACACACCCCA CAGCGGCAATAACCAGCATCCACCAGAGAACCACGCGCCCCACAGCGGCA ATAACCAGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCAG CATCCACCAGAGAACCACACACCCCACAGCGGCAATAACCGGCATCCACC AGAGAACCACGCGCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACC ACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG02717.hp2 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0039 a0001c0003t0032 a0001c0003t0039	a0001c0003t0032g0071 a0001c0003t0039g0044 a0001c0003t0032g0071 a0001c0003t0039g0044	2	106	0.0189	504	c.107 others(525): Show c.1077+22436_1077+22437insTGTGTGGTTCTCTGGTGGATGCCG GTTATTGCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGCCGGTTATTGC CGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGG GGCGCGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGGGGCGCGTG GTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGGGGTGTGTGGTTCTCTG GTGGATGCCGGTTATTGCCGCTGTGGGGCACGTGGTTCTCTGGTGGATGC TGGTTATTGCCGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCTGGTTATT GCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGT GGGGTGTGTGGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGCACG TGGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGTGTGTGGTTCTC TGGTGGATGCCGGTTATTGCCGCTGTGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1340591	G G	GCCCCACA others(497): Show GCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACACACCCCACA GCGGCAATAACCGGCATCCACCAGAGAACCACGTGCCCCACAGCGGCAAT AACCGGCATCCACCAGAGAACCACACACCCCACAGCGGCAATAACCAGCA TCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCAGCATCCACCAG AGAACCACACACCCCACAGCGGCAATAACCAGCATCCACCAGAGAACCAC GTGCCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCACACACCCCA CAGCGGCAATAACCAGCATCCACCAGAGAACCACGCGCCCCACAGCGGCA ATAACCAGCATCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCAG CATCCACCAGAGAACCACACACCCCACAGCGGCAATAACCGGCATCCACC AGAGAACCACGCGCCCCACAGTGGCAATAACCGGCATCCACCAGAGAACC ACACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0038 a0001c0001t0019g0038	1	106	0.0094	504	c.107 others(525): Show c.1077+22436_1077+22437insTGTGTGGTTCTCTGGTGGATGCCG GTTATTGCCACTGTGGGGCGCGTGGTTCTCTGGTGGATGCCGGTTATTGC CGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGG GGCGCGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGGGGCGCGTG GTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGGGGTGTGTGGTTCTCTG GTGGATGCCGGTTATTGCCGCTGTGGGGCACGTGGTTCTCTGGTGGATGC TGGTTATTGCCGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCTGGTTATT GCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGT GGGGTGTGTGGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGCACG TGGTTCTCTGGTGGATGCCGGTTATTGCCGCTGTGGGGTGTGTGGTTCTC TGGTGGATGCCGGTTATTGCCGCTGTGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111179	G G	GCACCTCC others(497): Show GCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACC ACAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	368	0.0027	504	c.401 others(521): Show c.401+8397_401+8398insTCCAGACAACCTGCCCACCACGGGCACC TCCCTCCTAATCCCTCCAGACCACCTGCCCGCCACAGACACCTCCCTCCT AATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTC CAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAAC CTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACA ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCC ACCACAGGCACCTCCCTCCTAATCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111520	T T	TCCCTCCT others(497): Show TCCCTCCTAATCCCTCCAGACCACCTGCCCCCCCGGGAACCACCCCTCCT AATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAAC CTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACA CCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC TCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCCCCCGGGA ACCAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0050 a0001c0010t0011g0050	1	368	0.0027	504	c.401 others(521): Show c.401+8691_401+8692insTCCAGACCACCTGCCCCCCCGGGAACCA CCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCT AATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTC CAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC TCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCC CCCCGGGAACCACCCCTCCTAATCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111555	G G	GGGCACCT others(497): Show GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACAC CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCA CCACA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0334 a0001c0001t0021g0334	1	368	0.0027	504	c.401 others(521): Show c.401+8714_401+8715insGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGAC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111807	A A	AGACACCT others(497): Show AGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	368	0.0027	504	c.401 others(521): Show c.401+8966_401+8967insACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111851	G G	GCACCTCC others(497): Show GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCTGCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATGCCTCCAGACCACCTGCCTGCCATGGGCATCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCTGCAGACCACCTGCCCACC ACAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0274 a0001c0001t0030g0274	1	368	0.0027	504	c.401 others(521): Show c.401+9048_401+9049insGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTGCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACCACCTG CCTGCCATGGGCATCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCTGCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCAC	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(497): Show AGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0336 a0001c0001t0021g0336	1	368	0.0027	504	c.401 others(521): Show c.401+9150_401+9151insCCCCCCAGACAACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGAC AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAAT	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(497): Show AGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0334 a0001c0001t0021g0334	1	368	0.0027	504	c.401 others(521): Show c.401+9150_401+9151insCCCCCCAGACAACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGAC AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113435343	C C	CAGGACCT others(497): Show CAGGACCTGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCC AGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCA GGTGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGG GTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGTGAATAC AGGTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACATAGGTGTAC CCCGGGACCCAGCACCCAGGCACAGAGTGAACATAGGTGTACCCTGGGAC CCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACC CAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTA GAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAAC ATAGGTGTACCCCAGGACCCGGCACCCACGCATAGAGTGAACATAGGTGT ACCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0041 a0019c0028t0041	a0019c0028t0041g0260 a0019c0028t0041g0260	1	262	0.0038	504	c.380 others(521): Show c.380-1477_380-1476insAGGGTACACCTATGTTCACTCTATGCGT GGGTGCCGGGTCCTGGGGTACACCTATGTTCACTCTACACCTGGGTGCTG GGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGG GGTACACCTATGTTCACCCTGCGCCTGGGTGCCGGGTCCCGGGGTACACC TATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCA CTCTGTGCCTGGGTGCTGGGTCCCGGGGTACACCTATGTTCACTCTACAT GTGGGTGCTGGGTCCCGGGGTACACCTGTATTCACCCTGCACCTGGGTGC CGGGTCCCGGGGTACACCTATGTTCACCCTACACCTGGGTGCTGGGTCCC GGGGTACACCTGTGTTCACTCTACACCTGGGTGCCGGGTCCCGGGGTACA CCTATGTTCACTCTACACCTGGGTGCTGGGTCCCGGGGTACACCTGTGTT CACTCTACACCTGGGTGCCAGGTCCT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436752	G G	GGTGAATA others(497): Show GGTGAATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACA TAGGTGTACCCCGGAACCCAGCACCCAGGCACAGAGTGAACATAGGTGTA CCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCAC CCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGT AGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAA CATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTG TACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAG GACCCGGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGACCCAGC ACCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGT GTAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01243.hp1 others(16): Show HG00639.hp2 HG01074.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01358.hp2 HG01993.hp1 HG02074.hp1 HG02135.hp1 HG02809.hp1 HG03017.hp1 HG03139.hp1 HG03225.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp2 HG04184.hp2 NA18999.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0010 a0013 a0014 a0027 a0032 a0036 a0040	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0010c0010 a0013c0016 a0014c0048 a0014c0061 a0027c0032 a0032c0043 a0036c0047 a0040c0037	a0001c0001t0001 a0001c0001t0007 a0001c0001t0044 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0044 a0001c0001t0062 a0002c0002t0002 a0002c0002t0003 a0002c0002t0075 a0002c0002t0080 a0003c0003t0008 a0004c0005t0104 a0010c0010t0010 a0013c0016t0014 a0014c0048t0037 a0014c0061t0038 a0027c0032t0027 a0032c0043t0002 a0036c0047t0015 a0040c0037t0050	a0001c0001t0001g0166 a0001c0001t0007g0256 a0001c0001t0044g0233 others(16): Show a0001c0001t0001g0166 a0001c0001t0007g0256 a0001c0001t0044g0233 a0001c0001t0062g0087 a0002c0002t0002g0198 a0002c0002t0003g0057 a0002c0002t0003g0197 a0002c0002t0075g0154 a0002c0002t0080g0020 a0003c0003t0008g0105 a0004c0005t0104g0255 a0010c0010t0010g0146 a0013c0016t0014g0100 a0014c0048t0037g0127 a0014c0061t0038g0155 a0027c0032t0027g0122 a0032c0043t0002g0142 a0036c0047t0015g0151 a0040c0037t0050g0088	19	262	0.0725	504	c.380 others(521): Show c.380-2886_380-2885insTCTACACCTGGGTGCTGGGTCCCGGGGT ACACCTGTGTTCACTCTACGTGTGGGTGCTGGGTCACAGGGTACACCTAC GTTCACTCTATGCGTGGGTGCCGGGTCCTGGGGTACACCTATGTTCACTC TACACCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTG GATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGG GTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCGGG GTACACCTATGTTCACCCTGCGCCTGGGTGCCGGGTCCCGGGGTACACCT GTGTTCACTCTACGTGTGGATGCTGGGTCCCGGGGTACACCTATGTTCAC TCTACACCTGGGTGCTGGGTCCCAGGGTACACCTATGTTCACTCTGTGCC TGGGTGCTGGGTTCCGGGGTACACCTATGTTCACTCTACATGTGGGTGCT GGGTCCCGGGGTACACCTGTATTCAC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
AFAP1_chr4_7753714_7944861	7835035	T T	TGGGCTGC others(497): Show TGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGC CTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGT TACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGG TGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTT GAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGAC TGCGGGCGGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCT GCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTCAAG GTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGTCTTGAGGTTACCTG GGTGGCTCTTGAATGGACTGCGGGCTGCCTTACAGTTACCTGGGTGGCTC TTGAATGGACTGTGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGG ACTGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02895.hp2 others(2): Show HG01884.hp2 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0022 a0001c0002t0040 a0001c0002t0013 a0001c0002t0022 a0001c0002t0040	a0001c0002t0013g0310 a0001c0002t0013g0311 a0001c0002t0022g0222 others(2): Show a0001c0002t0013g0310 a0001c0002t0013g0311 a0001c0002t0022g0222 a0001c0002t0022g0223 a0001c0002t0040g0220	5	318	0.0157	504	c.726 others(521): Show c.726+3488_726+3489insGCAGTCCATTCAAGAGCCACCCAGGTAA CCTTAAGGCAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACTGTAAGG CAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTCAAGACAGCCCAC AGTCCATTCAAGAGCCACCCAGGTAACCTTGAGGCCGCCCGCAGTCCATT CAAGAGCCACCCAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCC ACCCAGGTAACCTTAAGGCCGCCCGCAGTCCATTCAAGAGCCACCCAGGT AACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAA GGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCC GCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCGCAGTCCA TTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAG CCACCCAGGTAACCTTAAGGCAGCCC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835707	C C	CAGGCGGC others(497): Show CAGGCGGCCTCAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGT CTTGAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACAGT TACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTACCTGGG TGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTT GAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGAC TGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCG GCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAG GTTACCTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTCAAGGTTACCTG GGTGGCTCTTGAATGGACTGTGGGCTGTCTTGAGGTTACCTGGGTGGCTC TTGAATGGACTGCGGGCTGCCTTACAGTTACCTGGGTGGCTCTTGAATGG ACTGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0044 a0001c0010t0044	a0001c0010t0044g0068 a0001c0010t0044g0068	1	318	0.0031	504	c.726 others(521): Show c.726+2816_726+2817insACAGTCCATTCAAGAGCCACCCAGGTAA CTGTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTCAAGA CAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACCTTGAGGCCGCCCGC AGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCACAGTCCATT CAAGAGCCACCCAGGTAACCTTAAGGCCGCCCGCAGTCCATTCAAGAGCC ACCCAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGT AACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAA GGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCC ACAGTCCATTCAAGAGCCACCCAGGTAACTGTAAGGCAGCCCGCAGTCCA TTCAAGAGCCACCCAGGTAACCTCAAGACAGCCCACAGTCCATTCAAGAG CCACCCAGGTAACCTTGAGGCCGCCT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835707	C C	CGGGCAGC others(497): Show CGGGCAGCCTCAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGT CTTGAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACAGT TACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGATTACCTGGG TGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTT GAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGAC TGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCG GCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAG GTTACCTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTCAAGGTTACCTG GGTGGCTCTTGAATGGACTGTGGGCTGTCTTGAGGTTACCTGGGTGGCTC TTGAATGGACTGCGGGCTGCCTTACAGTTACCTGGGTGGCTCTTGAATGG ACTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0013 a0001c0002t0030g0018 a0001c0002t0030g0013 a0001c0002t0030g0018	2	318	0.0063	504	c.726 others(521): Show c.726+2816_726+2817insACAGTCCATTCAAGAGCCACCCAGGTAA CTGTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTCAAGA CAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACCTTGAGGCCGCCCGC AGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCACAGTCCATT CAAGAGCCACCCAGGTAACCTTAAGGCCGCCCGCAGTCCATTCAAGAGCC ACCCAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGT AACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAA GGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAATCTTAAGGCAGCCC ACAGTCCATTCAAGAGCCACCCAGGTAACTGTAAGGCAGCCCGCAGTCCA TTCAAGAGCCACCCAGGTAACCTCAAGACAGCCCACAGTCCATTCAAGAG CCACCCAGGTAACCTTGAGGCTGCCC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835707	C C	CGGGCAGC others(497): Show CGGGCAGCCTCAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGT CTTGAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACAGT TACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTACCTGGG TGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTT GAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGAC TGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCG GCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAG GTTACCTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTCAAGGTTACCTG GGTGGCTCTTGAATGGACTGTGGGCTGTCTTGAGGTTACCTGGGTGGCTC TTGAATGGACTGCGGGCTGCCTTACAGTTACCTGGGTGGCTCTTGAATGG ACTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0038 a0001c0030t0038	a0001c0030t0038g0259 a0001c0030t0038g0259	1	318	0.0031	504	c.726 others(521): Show c.726+2816_726+2817insACAGTCCATTCAAGAGCCACCCAGGTAA CTGTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTCAAGA CAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACCTTGAGGCCGCCCGC AGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCACAGTCCATT CAAGAGCCACCCAGGTAACCTTAAGGCCGCCCGCAGTCCATTCAAGAGCC ACCCAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGT AACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAA GGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCC ACAGTCCATTCAAGAGCCACCCAGGTAACTGTAAGGCAGCCCGCAGTCCA TTCAAGAGCCACCCAGGTAACCTCAAGACAGCCCACAGTCCATTCAAGAG CCACCCAGGTAACCTTGAGGCTGCCC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835712	G G	GGCCTCAA others(497): Show GGCCTCAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGTCTTGA GGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACAGTTACCT GGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTACCTGGGTGGCT CTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATG GACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGG GCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTT AAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTAC CTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTCAAGGTTACCTGGGTGG CTCTTGAATGGACTGTGGGCTGTCTTGAGGTTACCTGGGTGGCTCTTGAA TGGACTGCGGGCTGCCTTACAGTTACCTGGGTGGCTCTTGAATGGACTGT GGGCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0072 a0001c0001t0027g0072	1	318	0.0031	504	c.726 others(521): Show c.726+2811_726+2812insAGCCCACAGTCCATTCAAGAGCCACCCA GGTAACTGTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCT CAAGACAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACCTTGAGGCCG CCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCACAGT CCATTCAAGAGCCACCCAGGTAACCTTAAGGCCGCCCGCAGTCCATTCAA GAGCCACCCAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACC CAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAAC CTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGC AGCCCACAGTCCATTCAAGAGCCACCCAGGTAACTGTAAGGCAGCCCGCA GTCCATTCAAGAGCCACCCAGGTAACCTCAAGACAGCCCGCAGTCCATTC AAGAGCCACCCAGGTAACCTTGAGGC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835712	G G	GGCCTCAA others(497): Show GGCCTCAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGTCTTGA GGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACAGTTACCT GGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTACCTGGGTGGCT CTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATG GACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGG GCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTT AAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTAC CTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTCAAGGTTACCTGGGTGG CTCTTGAATGGACTGTGGGCTGTCTTGAGGTTACCTGGGTGGCTCTTGAA TGGACTGCGGGCTGCCTTACAGTTACCTGGGTGGCTCTTGAATGGACTGT GGGCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(59): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01070.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02818.hp1 HG03491.hp1 HG03654.hp1 HG03831.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18977.hp1 NA18982.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0010 a0001c0011 others(5): Show a0001c0001 a0001c0010 a0001c0011 a0001c0016 a0001c0025 a0001c0033 a0001c0034 a0007c0029	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0043 a0001c0001t0046 a0001c0010t0001 a0001c0011t0016 a0001c0016t0002 a0001c0025t0001 a0001c0033t0017 a0001c0034t0023 a0007c0029t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 others(59): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0193 a0001c0001t0001g0282 a0001c0001t0010g0041 a0001c0001t0010g0059 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0077 a0001c0001t0014g0049 a0001c0001t0014g0053 a0001c0001t0014g0056 a0001c0001t0014g0065 a0001c0001t0023g0119 a0001c0001t0025g0019 a0001c0001t0025g0069 a0001c0001t0027g0071 a0001c0001t0043g0070 a0001c0001t0046g0080 a0001c0010t0001g0039 a0001c0011t0016g0042 a0001c0011t0016g0043 a0001c0011t0016g0046 a0001c0011t0016g0064 a0001c0016t0002g0031 a0001c0025t0001g0141 a0001c0033t0017g0017 a0001c0034t0023g0074 a0007c0029t0002g0032	62	318	0.1950	504	c.726 others(521): Show c.726+2811_726+2812insAGCCCACAGTCCATTCAAGAGCCACCCA GGTAACTGTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCT CAAGACAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACCTTGAGGCCG CCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCACAGT CCATTCAAGAGCCACCCAGGTAACCTTAAGGCCGCCCGCAGTCCATTCAA GAGCCACCCAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACC CAGGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAAC CTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGC AGCCCACAGTCCATTCAAGAGCCACCCAGGTAACTGTAAGGCAGCCCGCA GTCCATTCAAGAGCCACCCAGGTAACCTCAAGACAGCCCACAGTCCATTC AAGAGCCACCCAGGTAACCTTGAGGC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFDN_chr6_167821911_167977023	167976273	A A	ACCCCTGC others(497): Show ACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGC AGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTG GGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAG AAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGT GGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGACAGTGGGGGTCA TTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCT GCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTG TTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGG AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACA GTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGT CATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02559.hp2 HG03130.hp1 others(1): Show HG01099.hp1 HG02559.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0304 a0001c0004t0001g0305 a0001c0004t0001g0306 others(1): Show a0001c0004t0001g0304 a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0004t0001g0307	4	326	0.0123	504	c.63 others(515): Show c.6338_*6339insCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGG GGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTC CCCCTGCAGTGTGTGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCA GTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTG GGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGA AGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTG GGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCAT TCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTG CAGTGTGTGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGG GGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGA GAAGACAGTGGGGGTCATTC	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4251		chr6	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(497): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CACGTATACGTATACACACATATACACGTATACGTATACACACATATACA CGTATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTA CACACATATACACGTATATACGTATACGTGTACACACATATACACGTATA TACGTATACGTGTACACACATATATATACACGTATATATACGTATACGTG TACACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA CACGT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	169	0.0059	504	c.48- others(521): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACACGTATACGTATACACACATATACACGTATACGTATACACAC ATATACACGTATACGTATACGTGTACACACATATACACGTATATACGTAT ACGTGTACACACATATACACGTATATACGTATACGTGTACACACATATAC ACGTATATACGTATACGTGTACACACATATATATACACGTATATATACGT ATACGTGTACACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTAC ACACACACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581451	T T	TACGTGTA others(497): Show TACGTGTACACACACACACGTATATATACGTATACGTGTACACACACACA CGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTG TACACACACACGTATATATACGTATACGTGTACACACACGTATATATACG TATACGTGTACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACACGTATATACGTATACGTGTACACACACACACGTA TATACGTATACGTGTACACACACATACACGTATATACGTATACGTGTACA CACACATACACGTATACGTGTACACACACATACACGTATACGTGTACACA CACATACACGTATACGTGTACACACACATACACGTCTACGTGTACACACA CATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02145.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0106 a0001c0003t0109 a0001c0001t0106 a0001c0003t0109	a0001c0001t0106g0121 a0001c0003t0109g0122 a0001c0001t0106g0121 a0001c0003t0109g0122	2	169	0.0118	504	c.48- others(521): Show c.48-70544_48-70543insGTACACACACACACGTATATATACGTAT ACGTGTACACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTAC ACACACGTATATATACGTATACGTGTACACACACGTATATATACGTATAC GTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGT GTACACACACACACGTATATACGTATACGTGTACACACACATACACGTAT ATACGTATACGTGTACACACACATACACGTATACGTGTACACACACATAC ACGTATACGTGTACACACACATACACGTATACGTGTACACACACATACAC GTCTACGTGTACACACACATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)