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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Select column to sort.

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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
MPG_chr16_73225_90846	82247	G G	GCTCCCCG others(693): Show GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCA GGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCG GCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGCCTCCTGAAT GCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGC CTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCG GGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGACC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCG GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	442	0.0023	700	c.301 others(715): Show c.301-799_301-798insGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCC CCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGA AGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCG CTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCT CCCCACGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGA AGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(693): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAA AATCTTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATA TATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGA TTTTATATATATATAAAATAAGATTTTATATATATATAAGATTTTATATA TATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	330	0.0030	700	c.-5+ others(715): Show c.-5+3009_-5+3010insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATA AAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATA TAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTAT ATATATATAAAATATATAAAAAATATATATCAAATATATATAAAATAAGA TTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(693): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAGAT AAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTA TATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATA TATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATA TATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAAT ATATAAATATAAATATATAAATATATATATATAATTATATATATATATTT AGGTCCTCTGGTTTTGGTTTTTTTTTATATATATATATATTTAGGTCTTC TGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATATA TAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATAT G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	312	0.0032	700	c.293 others(719): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATT AACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATA AAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTAT ATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATA AAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAATAT AAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTCTG GTTTTGGTTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGT TTTATATATATATTTATATATTTATATAAATATAAATATATAAATATATA TAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATAT ATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPRL3_chr16_80386_143673	82247	G G	GCTCCCCG others(693): Show GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCA GGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCG GCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGCCTCCTGAAT GCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGC CTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCG GGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATACTCCCCCGGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGACC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCG GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	350	0.0029	700	c.44 others(711): Show c.4457_*4458insTATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGTCAGCGTGGGGAGCATTCAGGAGGCCTTCCC GGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGTATTCAGGA GGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAG CATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCG CGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCTGGAGGTAGGGTGGTGG GAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTA GGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTC CCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGA GGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAG CATTCAGGAGGCCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCG CCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAG GGGTCAGCGCGGGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3138		chr16	TogoVar
PDCD6_chr5_266646_319974	309755	T T	TGGCCGCC others(693): Show TGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGT GCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGT CCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGC CGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGT GATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCAC CCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGC ACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCC CCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCG CCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACACCAGTGA G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	360	0.0028	700	c.368 others(717): Show c.368-1511_368-1510insGGGCCGCCGTCCCCGTGCACCCCAGTGA TGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGT GCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGT CCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGC CGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGT GAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGC ACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCC CCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCG CCGTCCCCGTGCACCCCAGTGA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309783	T T	TGGCCGCC others(693): Show TGGCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGT GCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGT CCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGC CGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGT GAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCAC CCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGC ACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCC CCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACACCAGTGATGGCCG CCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACACCAGTGA G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	360	0.0028	700	c.368 others(717): Show c.368-1491_368-1490insACCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGC ACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCC CCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCG CCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGA GGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGT GCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGT CCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACACCAGTGATGGC CGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACACCAGT GAGGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(693): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCC TTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCC CTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCC CCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCT CCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTC CCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTT TTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCC TTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	360	0.0028	700	c.35 others(711): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC TCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCT CATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCAC CTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCC CTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGC ACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCT GCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTC ACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATC TGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PFKFB3_chr10_6197932_6240532	6210574	A A	AGTCTTGA others(693): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0251 a0001c0001t0011g0251	1	432	0.0023	700	c.77- others(715): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIAS4_chr19_4002736_4044386	4012047	G G	GGGTGTGG others(693): Show GGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGG TGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGT GTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTG TGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGT GTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGG TGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTT T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02738.hp2 HG03491.hp2 others(2): Show HG00639.hp1 HG02738.hp2 HG03491.hp2 HG03834.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0005 a0001c0005t0017 a0001c0007t0001 a0001c0005t0005 a0001c0005t0017 a0001c0007t0001	a0001c0005t0005g0019 a0001c0005t0005g0231 a0001c0005t0005g0244 others(2): Show a0001c0005t0005g0019 a0001c0005t0005g0231 a0001c0005t0005g0244 a0001c0005t0017g0019 a0001c0007t0001g0024	5	334	0.0150	700	c.28- others(713): Show c.28-861_28-860insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGG GGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGG TGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGG GTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGAGG GGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TTTGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(693): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTG TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAA TTATATAATTATATATTATGTATTATATAATTATATATTATGTATTATAT AATTATATAATTATATATTATGTATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATTATATAATTATATAT TATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTAT ATAATTATATATTATTTATTATATAATTATATATTATTTATTACATAAAT ATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGCATAT AATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTATAT AGTTATTTATTATATAATTGTATATAGTTATTTATTATATAATTCTATAT A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0003 a0001c0005t0008g0003	1	106	0.0094	700	c.862 others(717): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAAT TATATATTATGTATTATATAATTATATAATTATATATTATGTATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA ATTATATATTATTTATTATATAATTATATATTATTTATTATATAATTATA TATTATTTATTACATAAATATATATTATTTATTACATAAGTATATATCAC TTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTAT TTATTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTAT TTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	ATATATAA others(693): Show ATATATAATTATATATAATTATATATAATTATATAATTATATATAATTGT ATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATATA ATTATATATTATTTATTATATATTATATAATTATATAATTATATATTACT TATTATATAATATATAATTATATATTATTTATTATATAATTATATATTAT TTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAAT TATATAATTATATATTATGTATTATATAATTATATATTATGTATTATATA ATTATATAATTATATATTATGTATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATATTATTTATTATATAATTATATATTATTTATTACATAAATA TATATTATTTATTACATAAGTATATATCACTTATTATATAATTGCATATA ATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTATATA GTTATTTATTATATAATTGTATATAGTTATTTATTATATAATTCTATATA G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	106	0.0094	700	c.862 others(717): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTACTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAAT TATATATTATGTATTATATAATTATATAATTATATATTATGTATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA ATTATATATTATTTATTATATAATTATATATTATTTATTATATAATTATA TATTATTTATTACATAAATATATATTATTTATTACATAAGTATATATCAC TTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTAT TTATTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTAT TTATTATATAATTCTATATAGT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRDM16_chr1_3064203_3443621	3163273	G G	GCGCAGAA others(693): Show GCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAG AAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCC CTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCT GGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCCGG CTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGT CTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTGGCATGGTCT AGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTT GGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGA GGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGG GGATGTCCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGT C	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18983.hp2 NA19067.hp1 others(2): Show HG01346.hp1 NA18983.hp2 NA19067.hp1 NA19067.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0001 a0001c0002t0018 a0001c0001t0033 a0001c0002t0001 a0001c0002t0018	a0001c0001t0033g0197 a0001c0002t0001g0114 a0001c0002t0001g0208 others(2): Show a0001c0001t0033g0197 a0001c0002t0001g0114 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0018g0198	5	210	0.0238	700	c.38- others(717): Show c.38-22840_38-22839insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCG CAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCA GAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGA AGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCC TGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAAGCCCCTG GCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGC ATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTC TAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTA GAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTCTAGAGGGC TTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTT TGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAG AGGGGATGTCCGCAGAAGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(693): Show CCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0085 a0001c0002t0018g0085	1	210	0.0048	700	c.387 others(719): Show c.387+26139_387+26140insCCTGCGGTCCTCCCGCTCATCCTCCC GGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCG GTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATC CTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCG CTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGC TCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCC CCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT CCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCC GGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCG GTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATC CTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCG CTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGC TCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCC CCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCT CCCGCTCATCCTCCCGGCCCCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(693): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGT GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG03540.hp1 HG02559.hp2 HG02622.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0025 a0001c0002 a0001c0016 a0001c0025	a0001c0002t0084 a0001c0016t0020 a0001c0025t0044 a0001c0002t0084 a0001c0016t0020 a0001c0025t0044	a0001c0002t0084g0138 a0001c0016t0020g0108 a0001c0025t0044g0109 a0001c0002t0084g0138 a0001c0016t0020g0108 a0001c0025t0044g0109	3	210	0.0143	700	c.387 others(719): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGTGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGT GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC CCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCG CTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123047	C C	CGTGGTGG others(693): Show CGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTG GTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGGTGGTGGTTAGGGTCG TGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAG GGTCACGGTGGTGGTTAGGGTCATGGCGGTGGTTAGGGTCACGGCTGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTGGTTAGCGTCATGGTG GTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGTTCAT GGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTGGTGGGAGTTAGGG TCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTT AGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTC ATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTGGTTAGGGTCAT G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0117 a0001c0003t0014g0117	1	286	0.0035	700	c.335 others(719): Show c.335-12207_335-12206insAGTTATTTAGGGTCACGGTGGTGGTT AGGGTCGTGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGG TGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAG GGTCGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCATGGCGGTGGTTA GGGTCACGGCTGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTG GTTAGCGTCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGT GGTGGTTAGGTTCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCG TGGTGGGAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCACG GCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTG GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGT GGTGGTTAGGGTCATGGTGGTGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(693): Show AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAG TTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTT G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	286	0.0035	700	c.335 others(719): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTAGGGTCGTGG TGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTATTTAGGGTCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT ATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGT AGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBFOX3_chr17_79084345_79616051	79512600	C C	TCATGGCC others(693): Show TCATGGCCAGGGGACGCACACCCGGATACATGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATAAGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATAAGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACGCACACCCGGATACGTGTTACCATCGGCTACGGCC CCATGGCCAGGGGACGCACACCCGGATACGTGTTACCATCGGCTACGGCC CCATGGCCAGGGGACGCACATGCAGATACATGCTACCATCAGGTACAGCC CCATGGCCAGGGAACACCCACCCAGATACATATTACCATCGAGTACAGCC CCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGGCTACGGCC CCATGGCCAGGGGACGCACACCCGGATACGTATTACCATCGGCTACGGCC CCATGGCCAGGGGACGCACATGCAGATACATGTTACCATCGGGTACAGCC CCATGGCCAGGGGACACCCACCCAGATACATGTTACCATCGGGTACAGCC C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	154	0.0065	700	c.-31 others(721): Show c.-319-30002_-319-30001insGGCTGTACCCGATGGTAACATGTA TCTGGGTGGGTGTCCCCTGGCCATGGGGCTGTACCCGATGGTAACATGTA TCTGCATGTGCGTCCCCTGGCCATGGGGCCGTAGCCGATGGTAATACGTA TCCGGGTGTGCGTCCCCTGGCCATGGGGCCGTAGCCGATGGTAACACGTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCTGTACTCGATGGTAATATGTA TCTGGGTGGGTGTTCCCTGGCCATGGGGCTGTACCTGATGGTAGCATGTA TCTGCATGTGCGTCCCCTGGCCATGGGGCCGTAGCCGATGGTAACACGTA TCCGGGTGTGCGTCCCCTGGCCATGGGGCCGTAGCCGATGGTAACACGTA TCCGGGTGTGCGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACGTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACTTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACGTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACTTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACGTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACATGTA TCCGGGTGTGCGTCCCCTGGCCATGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79512600	C C	TCATGGCC others(693): Show TCATGGCCAGGGGACGCACACCCGGATACATGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATAAGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATAAGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGGGTACGGCC CCATGGCCAGGGGACGCACACCCGGATACGTGTTACCATCGGCTACGGCC CCATGGCCAGGGGACGCACACCCGGATACGTGTTACCATCGGCTACGGCC CCATGGCCAGGGGACGCACATGCAGATACATGCTACCATCAGGTACAGCC CCATGGCCAGGGGACACCCACCCAGATACATATTACCATCGAGTACAGCC CCATGGCCAGGGGACACCCACCCGGATACGTGTTACCATCGGCTACGGCC CCATGGCCAGGGGACGCACACCCGGATACGTATTACCATCGGCTACGGCC CCATGGCCAGGGGACGCACATGCAGATACATGTTACCATCGGGTACAGCC CCATGGCCAGGGGACACCCACCCAGATACATGTTACCATCGGGTACAGCC C	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA20129.hp1 HG02723.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0066 a0001c0002t0002g0134 a0001c0001t0001g0066 a0001c0002t0002g0134	2	154	0.0130	700	c.-31 others(721): Show c.-319-30002_-319-30001insGGCTGTACCCGATGGTAACATGTA TCTGGGTGGGTGTCCCCTGGCCATGGGGCTGTACCCGATGGTAACATGTA TCTGCATGTGCGTCCCCTGGCCATGGGGCCGTAGCCGATGGTAATACGTA TCCGGGTGTGCGTCCCCTGGCCATGGGGCCGTAGCCGATGGTAACACGTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCTGTACTCGATGGTAATATGTA TCTGGGTGGGTGTCCCCTGGCCATGGGGCTGTACCTGATGGTAGCATGTA TCTGCATGTGCGTCCCCTGGCCATGGGGCCGTAGCCGATGGTAACACGTA TCCGGGTGTGCGTCCCCTGGCCATGGGGCCGTAGCCGATGGTAACACGTA TCCGGGTGTGCGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACGTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACTTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACGTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACTTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACACGTA TCCGGGTGGGTGTCCCCTGGCCATGGGGCCGTACCCGATGGTAACATGTA TCCGGGTGTGCGTCCCCTGGCCATGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(693): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	276	0.0036	700	c.132 others(717): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFX2_chr19_5988164_6115500	6069986	T T	TGGATGGG others(693): Show TGGATGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGG ATGGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATG GGATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAG AATCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGAT GTGGATGGGGTGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTG GATGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGT GGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGG ATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGAATGGGATGTGGATGG GATGTGATGGGATGTGGATGGGGTGGAATGGGATGTGGATGGGGTGGGAT GAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATGTG GATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGAGT G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	308	0.0033	700	c.-8- others(717): Show c.-8-22483_-8-22482insCACTCTATCCACATCCCTTTCCATCCCA TCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACATC CCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATTCCA CCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATCC CATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCAC ATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACATCCCTTT CCATCCCATCCACATCTCATCCCACCCCATCCACATCCCGTTCCACCCCA TCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATCCACATC CCATCCCATCCCACCCCATCCACATCCCATCCCACCCCATTCACATCCCA TTCCACCCCATTCACATCCGATTCTATCCCATCCACATCCCATTCCATCC CATCCACATCCCATTCCATCCCATCCACATCCCATCCCATCCCATCCACA TCCCATCCCACCCCATCATATCCCATTCCACCCCATTCACATCCGATTCT ATCCCATCCACATCCCATTCCATCCCATCCACATCCCATTCCATCCCATC CACATCCCATTCCATCCCATCC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RPH3AL_chr17_207389_357807	272932	A A	ATCAGGGA others(693): Show ATCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAG GGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCC AGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGA GACCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCA GGGAGAGACCCCAGCGAGAGTGACTTCAGGGTGAGACCCCGGCGAGGGTG ACTTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCGGCG AGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACC CCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACATCAGGAA GAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGG TGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCAGGGTGAGACCCCGG CGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGA CCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACATCAGG AAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGAC G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	133	0.0075	700	c.438 others(717): Show c.438+8835_438+8836insCGTCACCCTCGCTGGGGTCTCTCCCTGA CGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTCA CCCTGACGTAGCCCTTGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGG GTCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCTGAAGTCACTCTC GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCACCCTGACGTC ACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCT GACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCT CACCCTGACGTAGCCCTTGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTG GGGTCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCTGAAGTCACCC TCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCTGAAG TCACTCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACC CTGACGTAGCCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGT CTCTTCCTGATGTCGCCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGC TGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGACGTCAC CCTCGCTGGGGTCTCTCCCTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273567	G G	GAGGGCGA others(693): Show GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGG AGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCGGCGAGGGCGACGTCAG GGTGAGACCCCGGCGAGGGCGACGTCAGGGAGAGACCCCGGCGAGGGCGA CGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTG AGACCCCGGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTC AGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGT GATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGC A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	133	0.0075	700	c.438 others(717): Show c.438+8200_438+8201insTGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGT CACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCC TGACGTCACCCTCGCCGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTC TCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCC CTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCCGGGGTCTCTCCCTGAC GTCGCCCTCGCCGGGGTCTCACCCTGACGTCGCCCTCGCCGGGGTCTCAC CCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGG TCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCG CTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCG CCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTG ACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTCCCTGACGTCGCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273567	G G	GAGGGCGA others(693): Show GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGG AGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGG GTGACTTCAGGGTGAGACCCCAGCGAGGGCGACATCAGGAAGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAG ACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGACGTCAG GGTGAGACCCCGGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGA CGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCAA GGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTC AGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGT GATGTCAGGGAGAGACCCCAGCGAGGGTGATGTCAGGGAGAGACCCCAGC A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	133	0.0075	700	c.438 others(717): Show c.438+8200_438+8201insTGCTGGGGTCTCTCCCTGACATCACCCT CGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACATCACC CTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAA GTCACCCTCGCCGGGGTCTCACCCTGACGTCACCCTTGCTGGGGTCTCTC CCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGG TCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCG CTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACATCA CCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTG ACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTCGCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(693): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	133	0.0075	700	c.-33 others(711): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCCTGTGGA GGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(693): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01255.hp1 HG01070.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0128 a0001c0002t0009g0126 a0001c0001t0001g0128 a0001c0002t0009g0126	2	133	0.0150	700	c.-33 others(711): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGA GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
RPH3AL_chr17_207389_357807	356555	A A	ACACACAC others(693): Show ACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGT CGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAG GCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACAC ACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTC CACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACC GCGCACCACACTCACTAACAGTCGCCTCCACAGGCGACCGCGCACCACAC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0016 a0003c0011t0001g0016	1	133	0.0075	700	c.-40 others(711): Show c.-4057_-4056insAGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT TAGTGAGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3749		chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(693): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATC CCCTCCCCTCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCT T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0143 a0001c0001t0009g0143	1	150	0.0067	700	c.77- others(717): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCT TTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(693): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATC CCCTCCCCTCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCT T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	158	0.0063	700	c.22+ others(717): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCT TTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(693): Show CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACATATATACATATGTATATATA CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACATATATACATATGTATATATA CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATATACATA TGTATATATACATATATGTACATATGTACATATATACATATGTATATATA CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0175 a0001c0001t0015g0175	1	182	0.0055	700	c.173 others(719): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATACATATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCCCG others(693): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCACCATC ACCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCAACCCTCCCCAC GCTCCACTCCCCACGCCATCGCCGACCCTCCCCACGCTCCACTCCCCACG CCATCGCCGACCCTCCCCACGCTCCACTCCCCACGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCC ACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCC A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02300.hp2 NA20300.hp2 HG02004.hp2 HG02300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012	a0001c0001t0004g0027 a0001c0001t0007g0033 a0001c0001t0012g0182 a0001c0001t0004g0027 a0001c0001t0007g0033 a0001c0001t0012g0182	3	218	0.0138	700	c.212 others(717): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTC GGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGG AGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGA GGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGTGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGTGGGGAGTGGAGCGTGGGGAGGGTC GGCGATGGCGTGGGGAGTGGAGCGTGGGGAGGGTTGGCGATGGCGCGGGG AGTGGAGCGTGGGGAGGGTCGGTGATGGTGCGGGGAGTGGAGCGTGGGGA GGGTCGGCGATGGCGCGGGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SNTG2_chr2_945849_1372613	1222457	A A	AGCTGGAG others(693): Show AGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGG CGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAA AGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTG TCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAG TGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGC TGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGC TGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGG TGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAA ACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTGTCTCCCTG TCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAG TGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGC TGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGC T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0132 a0009c0013t0001g0132	1	190	0.0053	700	c.719 others(719): Show c.719+13242_719+13243insCCGCTGTAGAGGAAAGCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGTG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAC CGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222599	C C	CTGGAGGT others(693): Show CTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAC TGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTG ATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0064 a0002c0003t0001g0064	1	190	0.0053	700	c.719 others(719): Show c.719+13396_719+13397insGGCGGTGCAGTGATGGAGTGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGT GCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGC CTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGG AGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGA GGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGG AGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGT GCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGC CTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGATGG AGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGA GGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGG AGGTGCTGGATCGCTGTAGAGGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222772	T T	TGCAGTGA others(693): Show TGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGG ATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGCCTCCCTGTCCTG CCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATG GAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAG AGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTG GAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCT CCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGG TGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGG ACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTG CCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATG GAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAG AGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTG GAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCT CCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGG C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	190	0.0053	700	c.719 others(719): Show c.719+13608_719+13609insTGGTGCAGTGATGGAGGGCGCCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAG GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(693): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTC CTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG02280.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0185 a0002c0002t0003g0190 a0002c0002t0003g0185 a0002c0002t0003g0190	2	202	0.0099	700	c.262 others(719): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCC TCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTC CTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(693): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATATTATATATATTATATATTATATAACTATATATTATATA TATTATATATATTATATATTATATAACTATATATTATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATAATATAACTATATATTATATATAATATATA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	268	0.0037	700	c.73 others(711): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATTATATATATTATATATTATATA ACTATATATTATATATATTATATATATTATATATTATATAACTATATATT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATAATATAACTATATAT TATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ATCATCCA others(693): Show ATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCC ATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGC CATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACAT CTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCAC CTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCAC CCACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATC CTATTCATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACA CTATCCATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACC CACCCAGTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACC CACCCTATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACA CACCCTATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCAC CCACCCACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTAT CCTATTCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCAC CTACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCAC C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	258	0.0039	700	c.113 others(719): Show c.113-25873_113-25872insTCATCCACTATCCATCCACCACCCCC ACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCAT CCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCT ACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCC ACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCC ATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCC ACCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCT ATCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCA TCCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTA TCCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACA CCCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCC ACCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCC ACACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCC AGCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCT ATCCTATTCATCCATCCACCCACC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3			chr22	TogoVar
TBCD_chr17_82747065_82950914	82764853	C C	CTGTGTGC others(693): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGC TTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCT TTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGC GGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGC TTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCT G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01993.hp2 HG02735.hp2 HG01256.hp1 HG01993.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0017 a0001c0002t0001 a0001c0002t0017	a0001c0002t0001g0260 a0001c0002t0017g0259 a0001c0002t0017g0261 a0001c0002t0001g0260 a0001c0002t0017g0259 a0001c0002t0017g0261	3	318	0.0094	700	c.333 others(715): Show c.333+795_333+796insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTT TTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAG CTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACA AGCTTGCGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(693): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATAATATACATATTATATATTATATATTATATACATATTA TATATTATATATTATATACATATTATATATTATATACATATTATATATTA TATATTATATACATATTATACATTATATATATCTAAAATATATAATACAC ATTATATATTATATAATACACATTATATATAATATATAATACACATTATA TATTATATATAATACACATTATATATTATATATAATACACATTATATATT ATATAATACACATTATATATTATATATAATACACATTATATATTATATAT AATACACATTATATATTATATATAATACACATTATATATTATATATAATA CACATTATATATTATATAATACACATTATATATTATATATAATACACATT ATATATATAATACACATTATATATTATATATAATACATAATACACATTAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	700	c.62 others(711): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATTATATATAATGTGT ATTATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTAT AATATGTATATAATATATAATATATAATATGTATATAATATATAATATGT ATATAATATATAATATATAATATGTATATAATATATAATATATAATATGT ATATTATATATAATATATAATACATATAATATGTATATTATATATATAAT ATATAATATATAATACATATAATATGCATATTATATATAATATATTATAT AATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTAT ATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATA TTATATATAATGCATATAATAGGTATATTATATATAATGTATATAATAGG TATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(693): Show TTGTATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTATATAAATATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATTTTTTATATTTATATTTATATATTATTATATTATATTTATATATTAT ATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATAAAAATATATATCATATATATTTATATTATATAAAAATATATATCA TATATATTTATATTATATAAAAATATATATCATATATATTTATATTATAT AAAAATATATATCATATATATTTATATATTATATAAAAATATATATCATA TATATTTATATATTATATAAAAATATATATCATATATATTTATATATTAT ATAAAAATATATATCATATATATTTATATTATATAAAAATATATATCATA TATATTTATATATTATATAAAAATATATATCATATATATTTATATATTAT ATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCA TATATATTTATATATTATATAAAAATATATATGATATATATTTATATTAT A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0017 a0002c0001t0017	a0002c0001t0017g0080 a0002c0001t0017g0080	1	128	0.0078	700	c.143 others(721): Show c.1437+28933_1437+28934insGTATAAAAATATATATATCATATA TATTTATATATTATATAAAAATATATATCATATATATTTATATATTATAT AAATATATATATCATATATATTTATATATTATATATTATATATTTATATT TTATTTTTATATTTATATTATATATATTTTTTATATTTATATTTATATAT TATTATATTATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAAT ATATATCATATATATTTATATATTATATAAAAATATATATCATATATATT TATATTATATAAAAATATATATCATATATATTTATATTATATAAAAATAT ATATCATATATATTTATATTATATAAAAATATATATCATATATATTTATA TATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAAT ATATATGATATATATTTATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(693): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03195.hp2 HG03710.hp2 others(2): Show HG02698.hp1 HG03195.hp2 HG03710.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0015 a0002c0003t0008 others(1): Show a0001c0001t0002 a0001c0001t0015 a0002c0003t0008 a0003c0005t0001	a0001c0001t0002g0026 a0001c0001t0002g0078 a0001c0001t0015g0005 others(2): Show a0001c0001t0002g0026 a0001c0001t0002g0078 a0001c0001t0015g0005 a0002c0003t0008g0090 a0003c0005t0001g0019	5	94	0.0532	700	c.129 others(721): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCTGGTGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303253	T T	TCATCACT others(693): Show TCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGG ACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTC CACCAACATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCG CCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGA GCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATC ACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCT GCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCA TCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGG ACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTC CACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCG CCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGA GCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCAACATC ACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCT GCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCA A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0064 a0001c0010t0005g0064	1	94	0.0106	700	c.129 others(721): Show c.1299+34380_1299+34381insTTGGTGGAGGCTCTGCAGAGTCCC GGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGG TGGAGGCTCTGCAGAGTCCCGGCGAGTGATGTTGGTGGAGGCTCTGCAGA GTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGAT GATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCT GCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGA GTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAG GCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCC GGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGG TGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGA GTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGAT GATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCT GCAGAGTCCCGGCGAGTGATGTTGGTGGAGGCTCTGCAGAGTCCCGGCGA GTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAG GCTCTGCAGAGTCCCGGCGAGTGATG	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(693): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACATACCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCC CCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCCTCCCTCCAGG GGACACATTCCCCCCCCCCCCCCCACGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCTCCTCAGGGCACATCCCCCCTCCCTCCAGGG GACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGA CACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCA CATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACA TCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATC CCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0064 a0002c0003t0064	a0002c0003t0064g0233 a0002c0003t0064g0233	1	260	0.0039	700	c.54 others(711): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGG ACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGAC ACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACAC ATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCCTCCCTCCAGGGGACACATTCCCCCCCCCCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCAGGGCACATCC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCC TCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTC CCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCC TCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTC CAGGGGACACATCCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2418961	T T	TCCCCTTC others(693): Show TCCCCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCC CTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCA CTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTT CCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCT CCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCT CCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCT CCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCC TCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACC CTCCCTCTCCTTCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCC CTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCT CCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCT CCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTT CCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCC TCTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTTTCCTTTCCTTCC C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0082 a0005c0010t0002g0082	1	114	0.0088	700	c.215 others(717): Show c.2154+823_2154+824insCCCCTTCCCTCCCTCCCTTTCCTTCCCT CCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTC TCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGC CTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCC CTACGTCTCCTTTCCTTCCCTCCCTCCCTACGTCTCCTTTCCTTCCCTCC CTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCAC CCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTC CCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTC TCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCTCCCTCTCCT TCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCC TTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCC CTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCC CTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCT CCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCCT CCCTCCCTTTCCTTTCCTTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287759	C C	CCCTCCCC others(693): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0115 a0001c0002t0007g0115	1	348	0.0029	700	c.519 others(715): Show c.519+864_519+865insCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(693): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGA CCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAG GGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0042 a0002c0002t0007g0042	1	466	0.0022	700	c.46 others(711): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGT CTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTA ACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(693): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGG AGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGA CCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAG GGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18961.hp1 NA18994.hp2 NA18747.hp2 NA18961.hp1 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0021 a0002c0002t0001g0007 a0001c0001t0001g0021 a0002c0002t0001g0007	3	466	0.0064	700	c.46 others(711): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAAC CCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGT CTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTA ACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TPO_chr2_1408463_1548673	1489968	T T	TGGGTCCC others(693): Show TGGGTCCCACACAGGAGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCTGCCACG TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	130	0.0077	700	c.176 others(719): Show c.1768+1991_1768+1992insAGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCTGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGA GCCGCCACGAGGGTCCCACACAGG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC9_chr8_139722725_140462744	139755543	G G	GAGGACAG others(693): Show GAGGACAGCAGGTCGCAGGAGGAGCCAGCGTTTGGGGATGAGGACAGCAG GTCGCAGGAGGAGCCAGGGATGGGGTTAAGGACAGCAGGTCGCAGGAGAA GCCAGGGATTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGATGG GGTATAAGGACAGCATGTCGCAGGAGGAGCCAGGATTGGGGATGAGGACA GCATGTCGCAGGAGAAGCCAGGGTTTGGGGATGAGGACAGCAGGTCACAG GAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGG GTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGTTGGGGTATA AGGACAGCAGGTCGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCAGG TCGCAGGAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGA GCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGATTG GGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGTTTGAGGATGAGGAC AGCAGGTCGCAGGAGGAGCCAGGGTTGGGGTATAAGGACAGCAGGTCGCA GGAGGAGCCAGGGATTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAG GGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGTTGGGGTAT A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0015 a0001c0002t0023g0015	1	98	0.0102	700	c.305 others(721): Show c.3056-23342_3056-23341insTATACCCCAACCCTGGCTCCTCCT GCGACCTGCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGACCTGCTG TCCTCATCCCCAATCCCTGGCTCCTCCTGCGACCTGCTGTCCTTATACCC CAACCCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCTCAAACCCTGGCT CCTCCTGCGACCTGCTGTCCTCATCCCCAATCCCTGGCTCCTCCTGCGAC CTGCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGACCTGCTGTCCTC ATCCCCAAACCCTGGCTCCTCCTGCGACCTGCTGTCCTTATACCCCATCC CTGGCTCCTCCTGCGACCTGCTGTCCTTATACCCCAACCCTGGCTCCTCC TGCGACCTGCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGACCTGCT GTCCTCATCCCCAAACCCTGGCTCCTCCTGTGACCTGCTGTCCTCATCCC CAAACCCTGGCTTCTCCTGCGACATGCTGTCCTCATCCCCAATCCTGGCT CCTCCTGCGACATGCTGTCCTTATACCCCATCCCTGGCTCCTCCTGCGAC CTGCTGTCCTCATCCCCAATCCCTGGCTTCTCCTGCGACCTGCTGTCCTT AACCCCATCCCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCCCAAACGC TGGCTCCTCCTGCGACCTGCTGTCCT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(693): Show TTATATATATATTATATATATAAAAATTATATATATTATATATATAAAAA TTATATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATTATATATATA AAAATTATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA TAAATTATATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATATTATATATATATAAAAATTATATAT ATATATTATATATATAAAAATTATATATATATATTATATATATATAAAAA TTATATATATATAATATATATATATAAAAATTATATATACATATTATATA TATAAAAATTATATATACATATTATATATATATATAAATTATATATACAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0019 a0001c0008t0001g0019	1	272	0.0037	700	c.29 others(711): Show c.2994_*2995insTATATATATATTATATATATAAAAATTATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATTATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATATAAATTATATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATATTATATATAT ATAAAAATTATATATATATATTATATATATAAAAATTATATATATATATT ATATATATATAAAAATTATATATATATAATATATATATATAAAAATTATA TATACATATTATATATATAAAAATTATATATACATATTATATATATATAT AAATTATATATACATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152649	G G	GTGAGAAG others(693): Show GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGGGGGTGAGAAGGGG AGTGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGGGAGTGTGGGGTGGGAGGGGGGTGAGGGGA GTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGTGAGAGGGGGGTGAGAAGGGAAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGA GAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGTGTGAGAGT GGGGGTGAGAAGAGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	228	0.0044	700	c.52 others(711): Show c.5277_*5278insTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGA GGGGGTGAGAAGGGGAGTGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGGGAGTGTGGGGTGGG AGGGGGGTGAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGTGAGAGGGGGGT GAGAAGGGAAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTG AGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGTGTGAGAGTGGGGGTGAGAAGAGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4907		chr4	TogoVar

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Search Results (Total: 8931 hits)