Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1971): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTACCTTGGCCT CCCAAAGTGCTGGGATTACAGGTGGGAGCTACAGCATCTGGTCCCTACCC ACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGTCAGGGTCTCACCGGGC ATGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCA GATCACGAGGTCAGGAGATCAACATCATCCTGGCCAACATAGTGAAACTC CGTTTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGCACATGCCTG TAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGA GTCGGAGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGTG ACAGAGTGAGACTCTGTCTCAGAAAACAAAAACAAGAAGAGCCAAGGTCT CCATCTGTCATCCGGCTAGAGTGCAGTGGTACAATCATAGCTCACTGCTA CCCACTCCTGGGTAAGCCTTCATTTTTACATTAGTTTTGCTTTCTTAAAA CTCTTAATTTCCCATTGAAGGAGCAAGCAGACACTGGCTGCGTTTCCCAT CTTTGATCTCTCTTGCACTTCAAGTCCCACATTCCTGGCATATCACAGCT GGAGGGATCCTTGGAGATCAGCATATTATGCTGCAGATCAGGAAACTGAG GCTCAGACAGCCGCTGAACTTGTGTTTAGCTATGATGTGATACTAGGTTT CCCGACTCCTGGGCAGGCAGTTTTCCTGGTACAGCACTCTTTATCTGGTT TGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTCGTAA TGTCACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCCTC CACCTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCAGT AGCTGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTATTT ATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCCCTTTGTTGCCCAG GCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCTCCTTAGCCTTCTA AGTAGCTGGGACTACAGGCACATGCCACTATGCATGGCTAATTTTTTTAA GTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGC CCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCATCGCAACCTCTGC CTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGGCACCACGCCTGGCTAATTTTGTATTTTTTAGTAAAGA CAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGT GATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTATAGGCTTGAGCCA CCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTTTTTTAAAGTAAAC TTTATTATATTATTATTTTATTTTTATTTTTTTGAGACCAAGTCTCACTC TGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCTTACTGCAACCTCC ATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	4	0.2500	1978	c.-46 others(1989): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCGATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAAATTAGCTAGGCGTGGTAGTGCACACCTGTGGTCCCAGCTACTGA AGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAGCCTGGGAGGTGGAGGC TGCAGTAAGCTGTGACTGCATCATTGCATTCCAGCCTGGGTGACATTACG AGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAACAAACAAACCA GATAAAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGGAGTCGGGAAACC TAGTATCACATCATAGCTAAACACAAGTTCAGCGGCTGTCTGAGCCTCAG TTTCCTGATCTGCAGCATAATATGCTGATCTCCAAGGATCCCTCCAGCTG TGATATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAGATCAAAGATGGG AAACGCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAATTAAGAGTTTTA AGAAAGCAAAACTAATGTAAAAATGAAGGCTTACCCAGGAGTGGGTAGCA GTGAGCTATGATTGTACCACTGCACTCTAGCCGGATGACAGATGGAGACC TTGGCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCTCACTCTGTCACCA GGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAATCTCCGACTCCCT GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACCAGGGACTACAGGC ATGTGCCACCACGCCCAGCTGATTTTTGTATTTTTAGTAGAAACGGAGTT TCACTATGTTGGCCAGGATGATGTTGATCTCCTGACCTCGTGATCTGCCC CCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGAAACCATGCCCG GTGAGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGAGGGGAGGTGGGTA GGGACCAGATGCTGTAGCTCCCACCTGTAATCCCAGCACTTTGGGAGGCC AAGGTAGGAGGTCAGGAGTTTGTGACCATCCTGGGCAGCATAACAAGACC CCAGCTCTACAAAAATAAATGAATGACGGCTGGGCACATTGGCTTACACC TGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGG ATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAAA TACGAAAATTAGCCGGATGTGGTGGCACACACCTGTAATCCCAGCTACTC AGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAGGCAGAGGTTACCA TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGGACGGAGC		RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding					4605		chr10	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GATGAAGG others(1971): Show GATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGATGGAGAAGGAGGGAGGGAAGAGGAGGG AGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAG GGAGGCAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGG AGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGGA GGGAGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGA AGGAGGGAGGGAAGAGGAGGGAGAAGGGGGGAGGCAAGAGGAGGGAGAAG GAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGA GGGAGAAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAG GGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGGA GGGAGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGG CAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAG GGGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGA GGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGA AGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAA GAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGA GGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGG GAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGG AAAAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAA GGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGA GGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGG GAGAAGGAGGGAGGGAAGAGGAGGGAGGAGGAGGGAGGGAAGAGGAGGGA GAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGG AGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAG GAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGG AGGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAGGGAGAGGAGGGAGGAGGAGGGAGGGAAGAGGAGGGA GAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGA AGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGA GGAGGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGG AGGGAGGAGGAGGGAGGGAAGAGGAGGGAGGAGGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0065 a0004c0023t0001g0065	1	94	0.0106	1978	c.206 others(1997): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTCCTCCCTCCTCTTCCCTCCCTCCTCCTC CCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTTTTCCC TCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTCTTCCCTCCCTCCTCCTCCCTCCTCTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTTTTC CCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCT CCTCCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTCTTCCCTCCCTCCTCCTCCCTCCTCTTCCCTCCCTCCTT CTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTTTT CCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTC CCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCC TCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCT TTTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCC CTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTCCT CTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCT TCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTC CCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCC CCCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTC TTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCT CCCTCCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTC TCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTGCCTC CCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTTCT CCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTGCCTCCCCCCTTCTCCCTCCTCTTCCCTCCCT CCTTCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCT CCCTCCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCT TCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTG CCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTGCC TCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCT TCTCCCTCCTCTTCCCTCCCTCCTTCTCCATCCCTCCTTCTCCCTCCTCT TCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTC CCTCCTTCCTTCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTC AT		SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15						chr17	TogoVar
DCDC2C_chr2_3698575_3853008	3725423	A A	AGGTGGAT others(1972): Show AGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGG AGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCT GGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0004 a0003c0009t0004	a0003c0009t0004g0298 a0003c0009t0004g0298	1	224	0.0045	1979	c.340 others(1996): Show c.340-1571_340-1570insTGGAGGGAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCA GGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGG AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC C		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRG2_chr17_18082948_18112969	18092147	T T	TGATGTCA others(1972): Show TGATGTCAGCATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTAAGGACATATCATATTTATTCATACACATGCTGGAATTA TTGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTT TTTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGG TGCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCC CAGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTC AGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTGC CACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGT CCATTCTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATA ATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAAT AGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTT CCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTAC TTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGC ATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTG AGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCAC AGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAA TGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCC GATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCC GCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCA GACAGGGTGGTGGCCGGGCAGAGGGGCTCCTCACCTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC AGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCCTACCG GACGGGGCGGCTGGCCGGGTGGGGGGGCTG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	397	0.0025	1979	c.65- others(1994): Show c.65-1650_65-1649insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTAAGGACATATCATATTTATTCATACACATGCTGGAA TTATTGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTT TTTTTTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAA TGGTGCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCAC GCCCAGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTG GTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCC TGCCACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAA AGTCCATTCTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTG ATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGAC AATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGT TTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGAT TACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCA AGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACC CTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGT CACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACA AAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCA TCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAA GCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTC CCAGACAGGGTGGTGGCCGGGCAGAGGGGCTCCTCACCTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCCTA CCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGGATGTCAGCATATTCT		DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXRED1_chr11_126264154_126283126	126276308	T T	TGTGTGTG others(1972): Show TGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTATGGGGTTGGGGAG GGTGTGTGTGTGTGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGT ATGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGT TGGGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTG TGTGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTATGGG GTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGTGTATG TGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGGTGTGTGTGTA GGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTATG GGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTGTGTGTG TATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGGTTGGGG AGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGTGTGTGT GGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGAGGGTGTGT ATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTAT GTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGGGGGTGTGTGT GTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTATGGGGTTGGG GAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTA GGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGTGTG TGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAT GGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATGGGG TTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGT GTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTGCAG TTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGTATG TGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTATGGGGTTGGG GAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGGGGG GGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGG GGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGG AGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGGGGGT TGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGTG TGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGTGTATGGGGTT GGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTGTATGGT GTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTGTGTGTGTATGGGGT CAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGTGTG GACGGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTG TGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGG TGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGGGTGGGAGGTG GACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTGGGGA GGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTG GGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGG TTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGT GGGGGTGCGGGGTAGACAGGGTTGGGGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	4	0.2500	1979	c.972 others(1992): Show c.972-79_972-78insTGTGTGTGTGTGTGTGTGGTGTGTGTGTATGG GGTTGGGGAGGGTGTGTGTGTGTGGTGTGTGTGTGTATGTATGGGTTGGG GAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTG TGTATGGGGTTGGGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAG GGTGTGTGTGTGTGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTG TGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAG AGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGG TGTGTGTGTAGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGG TGTGTGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTG TGTGTGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTAT GGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGG GTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGG GAGGGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGA GGGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGG GGGTGTGTGTGTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTA TGGGGTTGGGGAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAG GGTGTGTGTAGGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGG GAAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGG GGTTGGGGATGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGT GTGTATGGGGTTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGT GTGTGTGTGTGTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCT GTTCCTGCAGTTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGG GTAGTGTATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTA TGGGGTTGGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTG TATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGA GTGTATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTAT GGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTAT GTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTT GGGGAGGGTGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGT GTATGGGGTTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTG TGTGTATGGTGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTGTGTG TGTATGGGGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTG TGTGGGTGTGGACGGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGG GGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGG TTGGGGAGGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGG GTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACG GGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTG TGTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGG GTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGG GAGGGTGTGTGGGGGTGCGGGGTAGACAGGGTTGGGGAGGGTGTGTG		FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDGFA_chr7_492258_524846	494645	G G	GGGGGACG others(1972): Show GGGGGACGGGGGATCTGTGAGGGGACGGGGGATCTGTGAGGGGGATGGGG GATCTGTGAGGGGGACGGGGGATCTGTGAGGGGACGGGGGATCTGTGAGG GGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCTGTGAGGGGGATGGA GGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGAT CTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGGGGATCTGTGAGGGG GATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGG GGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGT GAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGG GATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGG GGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCT GTGAGGGGGATGGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGA TGGGGGATCCGTGAGGGGGATGGGGGATCTGTGAGGGGGACGGGGGATCC GTGAGGGGACGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGG ACGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGA TCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCCGTG AGGGGACGGGGGATCTGTGAGGGGGACGGGGGATCCGTGAGGGGACGGGG GATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCTGTG AGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGG ATGGAGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGG GATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTG AGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGAT GGAGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGA TCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAG GGGGATGGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGGG GATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTG TGAGGGGGATGGAGGGGATCCGTGAGGGGACGGGGGATCTGTGAGGGGGA CGGGGGATCCGTGAGGGGGACGGGGGATCTGTGAGGGGGATGGAGGGGAT CCGTGAGGGGGACGGGGGAATCCGTGAGGGGACGGGGGATCTGTGAGGGG GATGGGGGATCCGTGAGGGGGATGGGGGATCTGTGAGGGGGACAGGGGAT CCGTGAGGGGACGGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGG ATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCCGTGAGGGGGACGGGG GATCTGTGAGGGGGATGGGGGATCTCTGAGGGGGACGGGGGATCTGTGAG GGGACGGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGG GGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCCGT GAGGGGGACGGGGGATCTGTGAGGGGGACAGGGGATCTGTGAGGGGACGG GGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGGGGATCCGTG AGGGGGATGGGGGATCCGTGAGGGGACGGGGGATCTGTGAGGGGGATGGG GGATCTGTGAGGGGGACAGGGGATCTGTGAGGGGGATGGGGGATCTGTGA GGGGGACAGGGGATCTGTGAGGGGGACGGGGGATCCGTGAGGGGGATGGG GGATCTGTGAGGGGGACGGGGGATCTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0278 a0001c0001t0033g0278	1	224	0.0045	1979	c.39 others(1990): Show c.3918_*3919insTCACAGATCCCCCGTCCCCCTCACAGATCCCCCA TCCCCCTCACGGATCCCCCGTCCCCCTCACAGATCCCCTGTCCCCCTCAC AGATCCCCCATCCCCCTCACAGATCCCCTGTCCCCCTCACAGATCCCCCA TCCCCCTCACAGATCCCCCGTCCCCTCACGGATCCCCCATCCCCCTCACG GATCCCCCATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCCGT CCCCTCACAGATCCCCTGTCCCCCTCACAGATCCCCCGTCCCCCTCACGG ATCCCCCGTCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTC CATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCA CAGATCCCCCGTCCCCCTCAGAGATCCCCCATCCCCCTCACAGATCCCCC GTCCCCCTCACGGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCC CTCACGGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCACGGATCC CCTGTCCCCCTCACAGATCCCCCATCCCCCTCACGGATCCCCCATCCCCC TCACAGATCCCCCGTCCCCTCACGGATTCCCCCGTCCCCCTCACGGATCC CCTCCATCCCCCTCACAGATCCCCCGTCCCCCTCACGGATCCCCCGTCCC CCTCACAGATCCCCCGTCCCCTCACGGATCCCCTCCATCCCCCTCACAGA TCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCC ATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCCATCCCCCTCA CAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCC CTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCTCCATCC CCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACA GATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCT CCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCC CTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACA GATCCCCCGTCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCC GTCCCCTCACGGATCCCCCGTCCCCCTCACAGATCCCCCGTCCCCTCACG GATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCC CCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCGTCCCC CTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCGTCCCCTCACGGAT CCCCCGTCCCCCTCACAGATCCCCCATCCCCCTCACGGATCCCCCATCCC CCTCACAGATCCCCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGAT CCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTC CATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCC TCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAG ATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCTC CATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCC TCACAGATCCCCCATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCC CCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCA TCCCCCTCACAGATCCCCCGTCCCCCTCACAGATCCCCTCCATCCCCCTC ACAGATCCCCCGTCCCCTCACAGATCCCCCGTCCCCCTCACAGATCCCCC ATCCCCCTCACAGATCCCCCGTCCCCTCACAGATCCCCCGTCCCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding					2612		chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2124296	C C	CGGCGGTA others(1972): Show CGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTGGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGCGGTAGTTAGGGTCG TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTG GTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATA GTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTGGTTAGGGTCG TGGTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTAT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATA GTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCG TGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT ATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGT AGTTGGGGTCACGGCTATAGTTGGGGTCAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00733.hp1 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0258 a0001c0003t0001g0136 a0001c0003t0001g0258	2	100	0.0200	1979	c.335 others(1998): Show c.335-10964_335-10963insCGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGCGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTC ATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGG TCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGT AGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATA GTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGG ATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGC TGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCA TGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1972): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTACCTTGGCCT CCCAAAGTGCTGGGATTACAGGTGGGAGCTACAGCATCTGGTCCCTACCC ACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGTCAGGGTCTCACCGGGC ATGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCA GATCACGAGGTCAGGAGATCAACATCATCCTGGCCAACATAGTGAAACTC CGTTTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGCACATGCCTG TAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGA GTCGGAGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGTG ACAGAGTGAGACTCTGTCTCAGAAAACAAAAACAAGAAGAGCCAAGGTCT CCATCTGTCATCCGGGCTAGAGTGCAGTGGTACAATCATAGCTCACTGCT ACCCACTCCTGGGTAAGCCTTCATTTTTACATTAGTTTTGCTTTCTTAAA ACTCTTAATTTCCCATTGAAGGAGCAAGCAGACACTGGCTGCGTTTCCCA TCTTTGATCTCTCTTGCACTTCAAGTCCCACATTCCTGGCATATCACAGC TGGAGGGATCCTTGGAGATCAGCATATTATGCTGCAGATCAGGAAACTGA GGCTCAGACAGCCGCTGAACTTGTGTTTAGCTATGATGTGATACTAGGTT TCCCGACTCCTGGGCAGGCAGTTTTCCTGGTACAGCACTCTTTATCTGGT TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTCGTA ATGTCACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCCT CCACCTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCAG TAGCTGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTATT TATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCCCTTTGTTGCCCA GGCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCTCCTTAGCCTTCT AAGTAGCTGGGACTACAGGCACATGCCACTATGCATGGCTAATTTTTTTA AGTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCATCGCAACCTCTG CCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTACAGGCATGCGGCACCACGCCTGGCTAATTTTGTATTTTTTAGTAAAG ACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGG TGATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTATAGGCTTGAGCC ACCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTTTTTTAAAGTAAA CTTTATTATATTATTATTTTATTTTTATTTTTTTGAGACCAAGTCTCACT CTGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCTTACTGCAACCTC CATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG03453.hp2 HG02523.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0099 a0001c0001t0001g0021 a0001c0001t0001g0099	2	5	0.4000	1979	c.-46 others(1990): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCGATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAAATTAGCTAGGCGTGGTAGTGCACACCTGTGGTCCCAGCTACTGA AGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAGCCTGGGAGGTGGAGGC TGCAGTAAGCTGTGACTGCATCATTGCATTCCAGCCTGGGTGACATTACG AGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAACAAACAAACCA GATAAAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGGAGTCGGGAAACC TAGTATCACATCATAGCTAAACACAAGTTCAGCGGCTGTCTGAGCCTCAG TTTCCTGATCTGCAGCATAATATGCTGATCTCCAAGGATCCCTCCAGCTG TGATATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAGATCAAAGATGGG AAACGCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAATTAAGAGTTTTA AGAAAGCAAAACTAATGTAAAAATGAAGGCTTACCCAGGAGTGGGTAGCA GTGAGCTATGATTGTACCACTGCACTCTAGCCCGGATGACAGATGGAGAC CTTGGCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCTCACTCTGTCACC AGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAATCTCCGACTCCC TGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACCAGGGACTACAGG CATGTGCCACCACGCCCAGCTGATTTTTGTATTTTTAGTAGAAACGGAGT TTCACTATGTTGGCCAGGATGATGTTGATCTCCTGACCTCGTGATCTGCC CCCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGAAACCATGCCC GGTGAGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGAGGGGAGGTGGGT AGGGACCAGATGCTGTAGCTCCCACCTGTAATCCCAGCACTTTGGGAGGC CAAGGTAGGAGGTCAGGAGTTTGTGACCATCCTGGGCAGCATAACAAGAC CCCAGCTCTACAAAAATAAATGAATGACGGCTGGGCACATTGGCTTACAC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAG GATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAA ATACGAAAATTAGCCGGATGTGGTGGCACACACCTGTAATCCCAGCTACT CAGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAGGCAGAGGTTACC ATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGGACGGAGC		RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding					4605		chr10	TogoVar
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1972): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTACCTTGGCCT CCCAAAGTGCTGGGATTACAGGTGGGAGCTACAGCATCTGGTCCCTACCC ACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGTCAGGGTCTCACCGGGC ATGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCA GATCACGAGGTCAGGAGATCAACATCATCCTGGCCAACATAGTGAATCTC CGTTTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGCACATGCCTG TAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGA GTCGGAGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGTG ACAGAGTGAGACTCTGTCTCAGAAAACAAAAACAAGAAGAGCCAAGGTCT CCATCTGTCATCCGGGCTAGAGTGCAGTGATACAATCATAGCTCACTGCT ACCCACTCCTGGGTAAGCCTTCATTTTTACATTAGTTTTGCTTTCTTAAA ACTCTTAATTTCCCATTGAAGGAGCAAGCAGACACTGGCTGCGTTTCCCA TCTTTGATCTCTCTTGCACTTCAAGTCCCACATTCCTGGCATATCACAGC TGGAGGGATCCTTGGAGATCAGCATATTATGCTGCAGATCAGGAAACTGA GGCTCAGACAGCCGCTGAACTTGTGTTTAGCTATGATGTGATACTAGGTT TCCCGACTCCTGGGCAGGCAGTTTTCCTGGTACAGCACTCTTTATCTGGT TTGTTTGTTTGTTTATTTGTTTGTTTGTTTGAGACAGAGTCTCGTAATGT CACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCCTCCAC CTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCAGTAGC TGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTATTTATT TATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCCCTTTGTTGCCCA GGCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCTCCTTAGCCTTCT AAGTAGCTGGGACTACAGGCACATGCCACTATGCATGGCTAATTTTTTTA AGTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCATTGCAACCTCTG CCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTACAGGCATGCGGCACCACGCCTGGCTAATTTTGTATTTTTTAGTAAAG ACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGG TGATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTATAGGCTTGAGCC ACCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTTTTTTAAAGTAAA CTTTATTATATTATTATTTTATTTTTATTTTTTTGAGACCAAGTCTCACT CTGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCTTACTGCAACCTC CATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGTTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0324 a0001c0001t0003g0324	1	4	0.2500	1979	c.-46 others(1990): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCAACTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCAATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAATAAAATTAGCTAGGCGTGGTAGTGCACACCTGTGGTCCCAGCTA CTGAAGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAGCCTGGGAGGTGG AGGCTGCAGTAAGCTGTGACTGCATCATTGCATTCCAGCCTGGGTGACAT TACGAGACTCTGTCTCAAACAAACAAACAAATAAACAAACAAACAAACCA GATAAAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGGAGTCGGGAAACC TAGTATCACATCATAGCTAAACACAAGTTCAGCGGCTGTCTGAGCCTCAG TTTCCTGATCTGCAGCATAATATGCTGATCTCCAAGGATCCCTCCAGCTG TGATATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAGATCAAAGATGGG AAACGCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAATTAAGAGTTTTA AGAAAGCAAAACTAATGTAAAAATGAAGGCTTACCCAGGAGTGGGTAGCA GTGAGCTATGATTGTATCACTGCACTCTAGCCCGGATGACAGATGGAGAC CTTGGCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCTCACTCTGTCACC AGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAATCTCCGACTCCC TGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACCAGGGACTACAGG CATGTGCCACCACGCCCAGCTGATTTTTGTATTTTTAGTAGAAACGGAGA TTCACTATGTTGGCCAGGATGATGTTGATCTCCTGACCTCGTGATCTGCC CCCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGAAACCATGCCC GGTGAGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGAGGGGAGGTGGGT AGGGACCAGATGCTGTAGCTCCCACCTGTAATCCCAGCACTTTGGGAGGC CAAGGTAGGAGGTCAGGAGTTTGTGACCATCCTGGGCAGCATAACAAGAC CCCAGCTCTACAAAAATAAATGAATGACGGCTGGGCACATTGGCTTACAC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAG GATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCGTCTCTACTAAAA ATACGAAAATTAGCCGGATGTGGTGGCACACACCTGTAATCCCAGCTACT CAGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAGGCAGAGGTTACC ATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGGACGGAGC		RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding					4605		chr10	TogoVar
AHNAK2_chr14_104932253_104983374	104945729	C C	CGATCTAC others(1973): Show CGATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTG CCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGT CCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTG ATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGC CTCCACCTTCGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTG GGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTG CTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAG CCGTGCACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGC CGGGCTGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCT TTCAGGTCCAGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATC TACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTT TGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACC TGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTC AGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCA CCTTCGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCA GACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC TTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTG CACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGC TGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAG GTCCAGCTTGGGGCCCTTGACATCTATCTGGGGTCCCTTGCGATCTACTT TGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGG CCAGCTCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCC AGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGG TCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTC GGCGCAGACACATCCACCGAGACCTCAATGGACTTGCCTGGGGCAGACAC CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGTGCACCA TCCAGCTTTGCTCTCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGA CACCTCCACGTCGGGGGCCGTCACCTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATCTACTTTGGGC ATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGC TCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCCAGCCT GGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGGTCTTC AGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTCGGCGC AGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACACCCCGA ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCAA CTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAGACACCT CCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTG GGGCCCTTGATGTCTATCTGGGGGCCCTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02280.hp1 HG02922.hp1 HG03209.hp2 HG02280.hp1 HG02922.hp1 HG03209.hp2	a0033 a0065 a0033 a0065	a0033c0025 a0065c0088 a0033c0025 a0065c0088	a0033c0025t0001 a0065c0088t0001 a0033c0025t0001 a0065c0088t0001	a0033c0025t0001g0023 a0065c0088t0001g0096 a0033c0025t0001g0023 a0065c0088t0001g0096	3	353	0.0085	1980	c.972 others(1989): Show c.9721_9722insACAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGC TGGACCTGAAAGGCCCGAAGACGGACGTGACGGCCCCCGACGTGGAGGTG TCTCAGCCCGGCATGGAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGA TGGTGCACGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGGATGTGACTG CCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGG GTGTCTGCCCCAGGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCC GAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGA CCACTGACATCAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCT GGCCAGGTGGACCTGAAGCTCCCAGAGGGCCACGTTCCCGAGGGAGCTGG CCTCAAAGGGCACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCA AAGTAGATCACAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGAC CTGAAAGGCCCCAAGGCGGAGGTGACGGCCCCCGACGTGGAGGTGTCTCT GCCCAGCGTGGAGGTGGACGTCGAGGCCCCGAGAGCAAAGCTGGATGGTG CACGGCTGGAGGGTGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAA GACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTC TGCCCCAGGCAAGTCCATTGAGGTCTCGGTGGATGTGTCTGCGCCGAAGG TGGAGGCCGAAGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGACCACT GACATCAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCA GGTGGACCTGAAGCTCCCAGAGGGCCACGTTCCCGAGGGAGCTGGCCTCA AAGGGCACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTA GATCGCAAGGGACCCCAGATAGATGTCAAGGGCCCCAAGCTGGACCTGAA AGGCCCGAAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCG GCATGGAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGG CTGGAGGGGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAG CAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCC CAGGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAG GCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACAT CAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGG ACGTGAAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGG CACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCA CAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGACCTGAAAGGCC CGAAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCGGCATG GAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGGCTGGA GGGGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAAGT TCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCCCAGGC AAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAGGCCGA CGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACATCAGCA TTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGGACGTG AAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGGCACCT GCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATC	p.Asp others(1995): Show p.Asp3240_Arg3241insHisLysGlyProGlnIleAspIleLysGly ProLysLeuAspLeuLysGlyProLysThrAspValThrAlaProAspVa lGluValSerGlnProGlyMetGluValAspValGluAlaProGlyAlaL ysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAsp ValThrAlaLysAspSerLysPheLysMetProLysPheLysMetProSe rPheGlyValSerAlaProGlyLysSerIleGluValLeuValAspValS erAlaProLysValGluAlaAspValSerLeuProSerMetGlnGlyAsp LeuLysThrThrAspIleSerIleGluProProSerAlaGlnLeuGluVa lGlnAlaGlyGlnValAspLeuLysLeuProGluGlyHisValProGluG lyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLys MetProLysValAspHisLysGlyProGlnIleAspIleLysGlyProLy sLeuAspLeuLysGlyProLysAlaGluValThrAlaProAspValGluV alSerLeuProSerValGluValAspValGluAlaProArgAlaLysLeu AspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAspValTh rAlaLysAspSerLysPheLysMetProLysPheLysMetProSerPheG lyValSerAlaProGlyLysSerIleGluValSerValAspValSerAla ProLysValGluAlaGluValSerLeuProSerMetGlnGlyAspLeuLy sThrThrAspIleSerIleGluProProSerAlaGlnLeuGluValGlnA laGlyGlnValAspLeuLysLeuProGluGlyHisValProGluGlyAla GlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLysMetPr oLysValAspArgLysGlyProGlnIleAspValLysGlyProLysLeuA spLeuLysGlyProLysThrAspValThrAlaProAspValGluValSer GlnProGlyMetGluValAspValGluAlaProGlyAlaLysLeuAspGl yAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaL ysAspSerLysPheLysMetProLysPheLysMetProSerPheGlyVal SerAlaProGlyLysSerIleGluValLeuValAspValSerAlaProLy sValGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnT hrAspIleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGly GlnValAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLe uLysGlyHisLeuProLysLeuGlnMetProSerPheLysMetProLysV alAspHisLysGlyProGlnIleAspIleLysGlyProLysLeuAspLeu LysGlyProLysThrAspValThrAlaProAspValGluValSerGlnPr oGlyMetGluValAspValGluAlaProGlyAlaLysLeuAspGlyAlaA rgLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAsp SerLysPheLysMetProLysPheLysMetProSerPheGlyValSerAl aProGlyLysSerIleGluValLeuValAspValSerAlaProLysValG luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnThrAsp IleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGlyGlnVa lAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLeuLysG lyHisLeuProLysLeuGlnMetProSerPheLysMetProLysValAsp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9858/18335	9721/17388	3241/5795			chr14	TogoVar
ASAP2_chr2_9201812_9410678	9406452	A A	AGTCTTCC others(1973): Show AGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTC AGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCT CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTG TTTGTCACTGAGTGGACCTCTGTGACATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0049	1	110	0.0091	1980	c.31 others(1991): Show c.3125_*3126insGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGG CTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGG CCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTC CTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					775		chr2	TogoVar
CFAP46_chr10_132803392_132947570	132914556	G G	GCCCGAGG others(1973): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAG GCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACAC TGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGG CTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACT GCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGC TGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTG CACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCT GTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGC ACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCC GGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCC AGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCG GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0056 a0056	a0056c0059 a0056c0059	a0056c0059t0001 a0056c0059t0001	a0056c0059t0001g0142 a0056c0059t0001g0142	1	237	0.0042	1980	c.212 others(1999): Show c.2121-1299_2121-1298insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGGCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGG ACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGG GGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGA CACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGG GTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGCAGTGTGGCTGGAC ACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG TGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACA CAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGT GCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACAC AGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTG CAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACA GCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGC AGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(1973): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	127	0.0079	1980	c.-95 others(1999): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTTACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTTACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCC		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
DIRAS1_chr19_2709567_2726372	2713606	C C	CCCTCACT others(1973): Show CCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTT CATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCT CACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTC CTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACAC CCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCA CCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCC TTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTC CTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACT TCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCGTCACTGTCTAC ACCGATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCAC CACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTACACCCATCACCTC CTCCACCCTTCATCCCATCCATCACTGTCTACACCCATCACCTCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCA TCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTC CTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACAC CCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCT CCACCCTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCC TTCACCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACA CCATCCCTCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATCC CTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACT TCCTCCACGCACCACCCCCTCCACCCTTCATCCCATTCCTCACTTCCTAC ACCCACCACCTCCTCCACCCTTCATCCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	376	0.0027	1980	c.36 others(1991): Show c.3603_*3604insAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTA GGAAGTGAGGAATGGGATGAAGGGTGGAGGGGGTGGTGCGTGGAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAAGTGGTGGGTGTAGGAAGTGAGGGATGGTGT GAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGG TGGAGGAGGTGGTGGGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGG AGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGG TGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTG TAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAA GTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGG GATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGG ATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAG GGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGG TGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGAGGTGATGGGTGTAGACAGTGATGGATGGGATGAAGGGTGGAGGAG GTGATGGGTGTAGGAAGTGAGAGATGGCATTAAGGGTGGAGGAGGTGGTG GGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATCGGTGTA GACAGTGACGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAA TGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGAT GAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGG TGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG AGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGA CGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTG TAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAA GTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGG AATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGG ATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAG GGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGG		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					960		chr19	TogoVar
DLEC1_chr3_38034208_38129025	38084579	G G	GGGGGGTG others(1973): Show GGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTG GTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTAGTAGT GGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTGG TTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTG GTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTGGTGGTGGTGGTAGT AGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAG TAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGT AGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGG TGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTG GTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGT GGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAG TGGTGGTGGTGGTAGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTG GTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGT TGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGG TGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTA GTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGTAGTGGT AATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAG TAGTAGTGGTGGTGGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTA GTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGT AGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGG TAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTG GTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGT AGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGG TGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTA GTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGTAGTAGTAGTGGT GGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAG TAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTG GTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGT AGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAG TAGTAGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTG GTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGT AGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTAGTAG TAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTAGTG GTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGT GGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGG TAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTG GTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGT GGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAA TAGTAGTGGTGGTGGTAGTAGTAGTAGTGGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0019 a0002c0054t0001g0019	1	2	0.5000	1980	c.126 others(1997): Show c.1261+352_1261+353insGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTAGT AGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAG TGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTGGTGGTGGTGGT AGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAG TAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTAGTAGTA GTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGT GGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGG TGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAAT AGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAG TAGTGGTGGTGGTGGTAGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTG GTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGT GGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGG TGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTG GTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGTAGT GGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGG TAGTAGTAGTGGTGGTGGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTA GTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAAT AGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAG TGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTG GTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGT AGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTAGTAGTAGTAG TGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTA GTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGTAGTAGTAGT GGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAG TAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTG GTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGT AGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGG TAGTAGTAGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTG GTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGT GGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTAG TAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTA GTGGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGT AGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGG TGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTG GTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGT GGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAG TAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTGGGGGTGGTAGTAGTA GT		DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
EXD3_chr9_137301896_137428162	137323377	A A	ACCCACGA others(1973): Show ACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTG ATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGC CGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCC GGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGG TGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACAC CCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCC ACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCT GCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACC CCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGG GGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGAC ACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGAC CCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGAT CTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCA CCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGA GGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCG ACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGG ACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTG ATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGC CGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCC GGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGG TGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACAC CCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCC ACGAGGGGTGATCTGCCGACACCCCACCCCGGGCCCACGAGGGGTGATCT GCCGACACCCCACCCCGGGCCCACGAGGGGTGATCTGCCGACACCCCACC CCGGGCCCACGAGGGGTGATCTGCCGACACCCCACCCCGGGCCCACGAGG GGTGATCTGCCGACACCCCACCCCGGGCCCACGAGGGGTGATCTGCCGAC ACCCCACCCCGGGCCCACGAGGGGTGATCTGCCGACACCCCACCCCGGGC CCACGAGGGGTGATCTGCCGACACCCCACCCCGGGCCCACGAGGGGTGCT CTGCCGACACCCCACCCCGGGCCCACGAGGGGTGCTCTGCCGACACCCCA CCCCGGGCCCACGAGGGGTGCTCTGCCGACACCCCACCCCGGGCCCACGA GGGGTGCTCTGCCGACACCCCACCCCGGGCCCACGAGGGGTGCTCTGCCG ACACCCCACCCCGGGCCCACGAGGGGTGCTCTGCCGACACCCCACCCCGG GCCCACGAGGGGTGCTCTGCCGACACCCCACCCCGGGCCCACGAGGGGTG CTCTGCCGACACCCCACCCCGGGCCCACGAGGGGTGATCTGCCGACACCC CACCCCGGGCCCACGAGGGGTGCTCTGCCGACACCCCACCCCGGGCCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0066 a0006c0005t0001g0066	1	76	0.0132	1980	c.218 others(1997): Show c.2184+347_2184+348insCCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGCCCGGGGTGGGGTGTCGGCAGAGCACCCCTCGTGGGCCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCA GAGCACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCAGAGCACCCCTCGTG GGCCCGGGGTGGGGTGTCGGCAGAGCACCCCTCGTGGGCCCGGGGTGGGG TGTCGGCAGAGCACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCAGAGCAC CCCTCGTGGGCCCGGGGTGGGGTGTCGGCAGAGCACCCCTCGTGGGCCCG GGGTGGGGTGTCGGCAGAGCACCCCTCGTGGGCCCGGGGTGGGGTGTCGG CAGAGCACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCAGATCACCCCTCG TGGGCCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGCCCGGGGTGG GGTGTCGGCAGATCACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCAGATC ACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGCC CGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGCCCGGGGTGGGGTGTC GGCAGATCACCCCTCGTGGGCCCGGGGTGGGGTGTCGGCAGATCACCCCT CGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGT GGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGA TCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGG TCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTG GGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGG TGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCAC CCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCG GGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGG CAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCG TGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGG GGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATC ACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTC CGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTC GGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCT CGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGT GGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGA TCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGG TCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTG GG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
FOXRED1_chr11_126264154_126283126	126276308	T T	TGTGTGTG others(1973): Show TGTGTGTGTGTGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGTAT GTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTG GGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGGGTGTGTGTG TGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTGTGTGTG TGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAG TGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGGTG TGTGTGTAGGGTTGGGGAGGGTGTGTGTGTATGGGGTTGGGGAGGGTGTG TGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTG TGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGG TTGGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGT GTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGAGG GTGTGTATGGGGTTGGGGAGGGTGTGTATGTGTGTATGGGGTTGGGGAGG GTGTGTGGGGTTGGGGAGGGGGTGTGTGTGTGTTTATGGGGTTGGGGAGG GTGTGTGTGTGTGTGTGTATGGGGTTGGGGAGGGAGGGTGGGTGTGTGTG TGTGTATGGGGTTGGGGAGGGTGTGTGTAGGGGGTTGGGGAGGGTGTGTG TGTGTGGGTATAGGGTTGGGAAGGGTGTGTGTGTGTGTATGGGGTTGGGG AGGGTGTGTGTGTGTATGGGGTTGGGGATGGTGTGTGTGTGTATGGGGTT GGGGAGGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGGGGGTGTGTGTGT GTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGTGGACGGGGTTG GGGAGGGTTGCCGGCCATGCTGTTCCTGCAGTTCATAACTGCATTAGGGG TGTGTGTGTGTGCTGGGTTGGGTAGTGTATGTGGGGGGGTTGGGGAGGGG GTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGGGTGTGTGTGTGTG TGTGCTGGGTTGGGGAAAGTGTATGTGGGGGGGTTGGGGAGGGGGTGTGT GTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGGGGGTTGGGGAGGGTGTG TGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGT GCTGGGTTGGGGAGAGTGTATGTGGGGGGGTTGGGGAGGGTGTGTGTGTG TGTGTGCATGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGGGGACGG GGTTGGGGTGGGTGTGTGTGTGTATGGGGTTGGGGAGGTGTGTGTATGTA TGTATGGGGTTGGGGAAGGTGTGTGTATGGTGTGTGTGTGTATGGGATTG GGGAGGGGGGTGTGTGTGTGTGTATGGGGTCAGGGAGGGTGTGTGTGTGG GGACAGGGTTGGGGAGGGTGTGTGGGTGTGGACAGGGTTGGGGAGGGTGT GTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGA GGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGGGGACAGG GTTGGGGAGGGTGTGTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGT GTGGGGGTCGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGT GGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTGGGG AGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGT GGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGG GTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTG TGGGGGTGCGGGGTAGACAGGGTTGGGGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	4	0.2500	1980	c.972 others(1993): Show c.972-79_972-78insTGTGGTGTGTGTGTGTATGTATGGGTTGGGGA GAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTG TATGGGGTTGGGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGG GGTGTGTGTGTGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTGTG TGTGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGG TTGGGGAGAGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGT GTGTGTGGTGTGTGTGTAGGGTTGGGGAGGGTGTGTGTGTATGGGGTTGG GGAGGGTGTGTGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGG AGGGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGT GTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTG AGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGG GTTAGGGAGGGTGTGTATGGGGTTGGGGAGGGTGTGTATGTGTGTATGGG GTTGGGGAGGGTGTGTGGGGTTGGGGAGGGGGTGTGTGTGTGTTTATGGG GTTGGGGAGGGTGTGTGTGTGTGTGTGTATGGGGTTGGGGAGGGAGGGTG GGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTAGGGGGTTGGGG AGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGTGTGTGTGTGTGTAT GGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGATGGTGTGTGTGT GTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGGGG GTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGTG GACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTGCAGTTCATAACT GCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGTATGTGGGGGGGT TGGGGAGGGGGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGGGTG TGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGGGGGGGTTGGGGA GGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGGGGGTTGG GGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGTGTGT GTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGGGGGTTGGGGAGGG TGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGTGTGTGTGTGT GTGGGGACGGGGTTGGGGTGGGTGTGTGTGTGTATGGGGTTGGGGAGGTG TGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTGTATGGTGTGTGTGTG TATGGGATTGGGGAGGGGGGTGTGTGTGTGTGTATGGGGTCAGGGAGGGT GTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGTGTGGACAGGGTTG GGGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATG GGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTG TGGGGACAGGGTTGGGGAGGGTGTGTGGGGGTGGGAGGTGGACGGGGTTG GGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTGGGGAGGGTGTGTGG GGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGAC GGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGT GTGTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGG GGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGG GGAGGGTGTGTGGGGGTGCGGGGTAGACAGGGTTGGGGAGGGTGTGTG		FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406452	A A	AGTCTTCC others(1973): Show AGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTC AGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTGTGACATCT CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTG TTTGTCACTGAGTGGACCTCTGTGACATCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	143	0.0070	1980	c.38 others(1989): Show c.381_*382insGAGATGTCACAGAGGTCCACTCAGTGACAAACACTG AAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAA GGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAA ACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCAC TCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAG GTCCACTCAGTGACAAACACTGAAGGCCTGAGGAAGACTAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATG TCACAGAGGTCCACTCAGTGACAAACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG CCGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACTGAAGGCC TGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTG AAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACTGAAGGCC TGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACTGAAGG CCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACACACAC TGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAAC ACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTG ACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCAC TCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAG GTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTC ACAGAGGTCCACTCAGTGACAAACACTGAAGGCCTGAGGAAGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				381		chr2	TogoVar
LMF1_chr16_848634_975984	953985	A A	ACACAGAC others(1973): Show ACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCA CACCAGCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCT ACATGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACCCCAAACCAGCCTCCTGCACATCCACACAGACACAGACCC GAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACATCCAC ACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCAC CCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCC TCCTACATGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTGCACATCCACACAGACACAG ACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACAT CCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACAC CCACCCCACACCAGCCTCCTACACATCCACACAGACACAGACCCGAAACC AGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACAC GTCCACACAGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGAC ACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACA CCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTAC ACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAG ACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACATCCACACAGACACAGACCC GAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTC CTACATGTCCACACAGACACCCACCCCACACCAGCCTCCTACATGTCCAC ACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCT TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCACACCAGCCTCCTACACATCCACACAGACACAG ACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGT CCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACAC CCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTGCAC ATCCACACAGACACCCACCCCACACCAGCCTCCTACACATCCACACAGAC ACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACA CCAGCCTCCTACACATCCACACAGACACAGACCCGAAACCAGCTTCCTAC ACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAG ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTGCACATCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	144	0.0069	1980	c.503 others(1995): Show c.503+371_503+372insGGTGTCTGTGTGGATGTGCAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACG TGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTG TGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA TGTGCAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGG TCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGG AAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTG TGTGGACATGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTA GGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTT CGGGTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTC TGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTG TAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGG TGTCTGTGTGGACATGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGC TGGTTTCGGGTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTG GATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGG TCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTG TGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTA GGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTT CGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTC TGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATG TAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364472	T T	TACACCCA others(1973): Show TACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCA CCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAATTACA CCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCA CACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACT CACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACAATTACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACAATTACACCCACCCACACTTACACCCACGCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATCTA CCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATC TACCTCCACACCCACAATTACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACAATTACACCCACGCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACAATTACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATC TACCTCCACACCCACAATTACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	216	0.0046	1980	c.129 others(1997): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAATT ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACAATTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACAATTACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACAATTACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL2_chr13_97217333_97399120	97339102	G G	GTGTGCTA others(1973): Show GTGTGCTATGAGTGCATGTGTTGTCTGTAGTGTATCTGTGTTGCATGTGT ATTGTGAGTGTACGTGTGTTGTGTGTAGTGAATGTATTATGTGTGGTGTA TGACTGTGTTGTGAGTATATGTGAGTGTACGTGTTTTTTGTGTGCATGAG TGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAGTACATGAGTGTGTGTGT AGTGTGTTGAGTGCTGTGTGTGTATAGTGTTATAGTGTGAGTGTAAGTGT ACATGAGGATATTGTGTATGAACATATGTGAATGTGAGTGTATGAGTGTA CATGAGTGTGTTGTATGTGAGTGTGTGTATGATCATATGAGTGTGTTGTG TGTGAGTGTACATGAGTGTTGTGTTGGTGTGTATGAGTGTACACGAATGT GTTGGTGTTGTATGTGAGTGTACATGTGTTGTTTGTGTATAGTGTGAGTG TACATCAGTGCGTTGTGGGTGTGTGTACTGCAAGTATGTGTGTACGTGAG TGTATTGTGAGTGTATATTAGTGTGCTGTCAGTGTATATACTGTGAGTAC GAGTGTATTGTGTATGTGTGTAGTGTATGTGTGTACATGTGTGGTGTATT GTGAGTGTACATTAGTTTTGTGTGTACATGTGTTGTGTGTGTACATGAGT GTTATTTTATGTGAGTGTACAGTGTGTGAGTGTACAAGTGTGTGTTGAGT GTACGAGTGTTGGGTGTGAATGTGTGTGTTGTGAGTGTATGTATGTGTGT ACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTGTATGTGACTGCTGTGTG TATAGTGTATGTGCGTGTACATGACTGTGTTGTGTATGGGACTGTTTACA TGAGTGTGTTTGAGTGTACATGTATTGTGTGTAGTGAGTATATGTGAGTG TACATAAGTGTGTATGTGTGTTGTGAGAGTGTATGTGGGTGTGAGTGTAC ATGAGTGTGTTTTGTGTTGTGAGTGTACATGAGTGTTTTGTGAGTGTGTG GGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTGAGTGTATGTGATGTGTG TGTTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTT GTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTTGTG AGTGTATGAGTACACATGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTT TGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGAGTAGAAGTGTTTGTGTG TGTTGTGTGTGTTTTGAGTATGTGAGTATACATGGGTGTGTGTGTTGAGT ATATGCGTATCTGAGTGTATAGTGTGTATATGTGACTATACATGAGTGTG GTGTGTTTTGAGCATGCAAGTGTTGTGTGTAGTGAGTGTACATGAGTGTG TGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGAGTGTATATGAGTGTTGT GTGTATGTGCGTGTTGTGTTTGTGAGTGTACATGAGTGTGTTGAGTGTAT GAACGTTGTGTGAGAGTACAAGTGTTTGTGTGTAAGTGTGTGTGTTGTGT GTTTTGAGTATGTGAGTATACATGAGTGTGTGTTGAATATGTGTATCTGA GTGTATATGTGTATATGTGAGTGTACCTGAGTGTGTTGTGTTTCGAGTAC ATGAGTTTTGTGTGTAGTGAGTGTACATGAGTGTGTTGTGTGTGTGGTGG GTGTGGGTGTTTTGAGTGTGTGTGAGTATACATGAGTGTGTTGTGTATGT GTGTTGTGAGTGTATGTGTATGTATGAAAGCGTGTTGTGTGTGTTGTGTA TGAGTGTGTTGTGTGTATGTGTTGTGCATATGAGTGTGTCGTGTGTGAGT GTATGGGAGTGTGTTGTGAATGTATATGAGTATGTGTTGTGTATATGAGT GTGTTGTGTGTGAGTGTACGTGTGTTGTGAGTGTATGGGAGTGTGTTGTG AATGTGTACGAGTGTGTGTATGAGTATGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	3	0.3333	1980	c.340 others(1997): Show c.340-3910_340-3909insCTATGAGTGCATGTGTTGTCTGTAGTGT ATCTGTGTTGCATGTGTATTGTGAGTGTACGTGTGTTGTGTGTAGTGAAT GTATTATGTGTGGTGTATGACTGTGTTGTGAGTATATGTGAGTGTACGTG TTTTTTGTGTGCATGAGTGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAG TACATGAGTGTGTGTGTAGTGTGTTGAGTGCTGTGTGTGTATAGTGTTAT AGTGTGAGTGTAAGTGTACATGAGGATATTGTGTATGAACATATGTGAAT GTGAGTGTATGAGTGTACATGAGTGTGTTGTATGTGAGTGTGTGTATGAT CATATGAGTGTGTTGTGTGTGAGTGTACATGAGTGTTGTGTTGGTGTGTA TGAGTGTACACGAATGTGTTGGTGTTGTATGTGAGTGTACATGTGTTGTT TGTGTATAGTGTGAGTGTACATCAGTGCGTTGTGGGTGTGTGTACTGCAA GTATGTGTGTACGTGAGTGTATTGTGAGTGTATATTAGTGTGCTGTCAGT GTATATACTGTGAGTACGAGTGTATTGTGTATGTGTGTAGTGTATGTGTG TACATGTGTGGTGTATTGTGAGTGTACATTAGTTTTGTGTGTACATGTGT TGTGTGTGTACATGAGTGTTATTTTATGTGAGTGTACAGTGTGTGAGTGT ACAAGTGTGTGTTGAGTGTACGAGTGTTGGGTGTGAATGTGTGTGTTGTG AGTGTATGTATGTGTGTACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTG TATGTGACTGCTGTGTGTATAGTGTATGTGCGTGTACATGACTGTGTTGT GTATGGGACTGTTTACATGAGTGTGTTTGAGTGTACATGTATTGTGTGTA GTGAGTATATGTGAGTGTACATAAGTGTGTATGTGTGTTGTGAGAGTGTA TGTGGGTGTGAGTGTACATGAGTGTGTTTTGTGTTGTGAGTGTACATGAG TGTTTTGTGAGTGTGTGGGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTG AGTGTATGTGATGTGTGTGTTGTGTTGTGTTGTGAGTGTATGAGTACACA TGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTTTGTGTGTATGTGGGTG TGTTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTT GTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGA GTAGAAGTGTTTGTGTGTGTTGTGTGTGTTTTGAGTATGTGAGTATACAT GGGTGTGTGTGTTGAGTATATGCGTATCTGAGTGTATAGTGTGTATATGT GACTATACATGAGTGTGGTGTGTTTTGAGCATGCAAGTGTTGTGTGTAGT GAGTGTACATGAGTGTGTGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGA GTGTATATGAGTGTTGTGTGTATGTGCGTGTTGTGTTTGTGAGTGTACAT GAGTGTGTTGAGTGTATGAACGTTGTGTGAGAGTACAAGTGTTTGTGTGT AAGTGTGTGTGTTGTGTGTTTTGAGTATGTGAGTATACATGAGTGTGTGT TGAATATGTGTATCTGAGTGTATATGTGTATATGTGAGTGTACCTGAGTG TGTTGTGTTTCGAGTACATGAGTTTTGTGTGTAGTGAGTGTACATGAGTG TGTTGTGTGTGTGGTGGGTGTGGGTGTTTTGAGTGTGTGTGAGTATACAT GAGTGTGTTGTGTATGTGTGTTGTGAGTGTATGTGTATGTATGAAAGCGT GTTGTGTGTGTTGTGTATGAGTGTGTTGTGTGTATGTGTTGTGCATATGA GTGTGTCGTGTGTGAGTGTATGGGAGTGTGTTGTGAATGTATATGAGTAT GTGTTGTGTATATGAGTGTGTTGTGTGTGAGTGTACGTGTGTTGTGAGTG TATGGGAGTGTGTTGTGAATGTGTACGAGTGTGTGTATGAGTATGTGTTG TG		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97339102	G G	GTGTGCTA others(1973): Show GTGTGCTATGAGTGCATGTGTTGTCTGTAGTGTATCTGTGTTGCATGTGT ATTGTGAGTGTACGTGTGTTGTGTGTAGTGAATGTATTATGTGTGGTGTA TGACTGTGTTGTGAGTATATGTGAGTGTACGTGTTTTTTGTGTGCATGAG TGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAGTACATGAGTGTGTGTGT AGTGTGTTGAGTGCTGTGTGTGTATAGTGTTATAGTGTGAGTGTAAGTGT ACATGAGGATATTGTGTATGAACATATGTGAATGTGAGTGTATGAGTGTA CATGAGTGTGTTGTATGTGAGTGTGTGTATGATCATATGAGTGTGTTGTG TGTGAGTGTACATGAGTGTTGTGTTGGTGTGTATGAGTGTACACGAATGT GTTGGTGTTGTATGTGAGTGTACATGTGTTGTTTGTGTATAGTGTGAGTG TACATCAGTGCGTTGTGGGTGTGTGTACTGCAAGTATGTGTGTACGTGAG TGTATTGTGAGTGTATATTAGTGTGTTGTCAGTGTATATACTGTGAGTAC GAGTGTATTGTGTATGTGTGTAGTGTATGTGTGTACATGTGTGGTGTATT GTGAGTGTACATTAGTTTTGTGTGTACATGTGTTGTGTGTGTACATGAGT GTTATTTTATGTGAGTGTACAGTGTGTGAGTGTACAAGTGTGTGTTGAGT GTACGAGTGTTGGGTGTGAATGTGTGTGTTGTGAGTGTATGTATGTGTGT ACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTGTATGTGACTGCTGTGTG TATAGTGTATGTGCGTGTACATGACTGTGTTGTGTATGGGACTGTTTACA TGAGTGTGTTTGAGTGTACATGTATTGTGTGTAGTGAGTATATGTGAGTG TACATAAGTGTGTATGTGTGTTGTGAGAGTGTATGTGGGTGTGAGTGTAC ATGAGTGTGTTTTGTGTTGAGTGTACATGAGTGTTTTGTGAGTGTGTGGG AGGTGTAGGTGTGTTGTGAGTGTGTGTTGTGAGTGTATGTGATGTGTGTG TTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTTGT GTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTTGTGAG TGTATGAGTACACATGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTTTG TGTGTATGTGGGTGTGTTGTGTTGTGTGAGAGTAGAAGTGTTTGTGTGTG TTGTGTGTGTTTTGAGTATGTGAGTATACATGGGTGTGTGTGTTGAGTAT ATGCGTATCTGAGTGTATAGTGTGTATATGTGACTATACATGAGTGTGGT GTGTTTCGAGCATGCAAGTGTTGTGTGTAGTGAGTGTACATGAGTGTGTG TGGTGAGTGTGGGTGTGTTTTGAGTGTGTGAGTGTATATGAGTGTTGTGT GTATGTGCGTGTTGTGAGTGTTTGTGAGTGTACATGAGTGTGTTGAGTGT ATGAACGTTGTGTGAGAGTACAAGTGTTTGTGTGTAAGTGTGTGTGTTGT GTGTTTTGAGTATGAGTATACATGAGTGTGTGTTGAGTATGTGTATCTGA GTGTATATGTGTATATGTGAGTGTACCTGAGTGTGTTGTGTTTCGAGTAC ATGAGTTTTGTGTGTAGTGAGTGTACATGAGTGTGTTGTGTGTGTGGTGG GTGTGGGTGTTTTGAGTGTGTGTGAGTATACATGAGTGTTGTGTATGTGT GTTGTGAGTGTATGTGTATGTATGAAAGCGTGTTGTGTGTGTTGTGTATG AGTGTGTTGTGTGTATGTGTTGTGCATATGAGTGTGTCGTGTGTGAGTGT ATGGGAGTGTGTTGTGAATGTATATGAGTATGTGTTGTGTATATGAGTGT GTTGTGTGTGTGAGTGTACGTGTGTTGTGAGTGTATGGGAGTGTGTTGTG AATGTGTACGAGTGTGTGTATGAGTATGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0233 a0001c0001t0004g0112 a0001c0001t0004g0233	2	4	0.5000	1980	c.340 others(1997): Show c.340-3910_340-3909insCTATGAGTGCATGTGTTGTCTGTAGTGT ATCTGTGTTGCATGTGTATTGTGAGTGTACGTGTGTTGTGTGTAGTGAAT GTATTATGTGTGGTGTATGACTGTGTTGTGAGTATATGTGAGTGTACGTG TTTTTTGTGTGCATGAGTGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAG TACATGAGTGTGTGTGTAGTGTGTTGAGTGCTGTGTGTGTATAGTGTTAT AGTGTGAGTGTAAGTGTACATGAGGATATTGTGTATGAACATATGTGAAT GTGAGTGTATGAGTGTACATGAGTGTGTTGTATGTGAGTGTGTGTATGAT CATATGAGTGTGTTGTGTGTGAGTGTACATGAGTGTTGTGTTGGTGTGTA TGAGTGTACACGAATGTGTTGGTGTTGTATGTGAGTGTACATGTGTTGTT TGTGTATAGTGTGAGTGTACATCAGTGCGTTGTGGGTGTGTGTACTGCAA GTATGTGTGTACGTGAGTGTATTGTGAGTGTATATTAGTGTGTTGTCAGT GTATATACTGTGAGTACGAGTGTATTGTGTATGTGTGTAGTGTATGTGTG TACATGTGTGGTGTATTGTGAGTGTACATTAGTTTTGTGTGTACATGTGT TGTGTGTGTACATGAGTGTTATTTTATGTGAGTGTACAGTGTGTGAGTGT ACAAGTGTGTGTTGAGTGTACGAGTGTTGGGTGTGAATGTGTGTGTTGTG AGTGTATGTATGTGTGTACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTG TATGTGACTGCTGTGTGTATAGTGTATGTGCGTGTACATGACTGTGTTGT GTATGGGACTGTTTACATGAGTGTGTTTGAGTGTACATGTATTGTGTGTA GTGAGTATATGTGAGTGTACATAAGTGTGTATGTGTGTTGTGAGAGTGTA TGTGGGTGTGAGTGTACATGAGTGTGTTTTGTGTTGAGTGTACATGAGTG TTTTGTGAGTGTGTGGGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTGAG TGTATGTGATGTGTGTGTTGTGTTGTGTTGTGAGTGTATGAGTACACATG AGTGTTGTATGTGTTGTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTG TTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTTGT GTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGAGT AGAAGTGTTTGTGTGTGTTGTGTGTGTTTTGAGTATGTGAGTATACATGG GTGTGTGTGTTGAGTATATGCGTATCTGAGTGTATAGTGTGTATATGTGA CTATACATGAGTGTGGTGTGTTTCGAGCATGCAAGTGTTGTGTGTAGTGA GTGTACATGAGTGTGTGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGAGT GTATATGAGTGTTGTGTGTATGTGCGTGTTGTGAGTGTTTGTGAGTGTAC ATGAGTGTGTTGAGTGTATGAACGTTGTGTGAGAGTACAAGTGTTTGTGT GTAAGTGTGTGTGTTGTGTGTTTTGAGTATGAGTATACATGAGTGTGTGT TGAGTATGTGTATCTGAGTGTATATGTGTATATGTGAGTGTACCTGAGTG TGTTGTGTTTCGAGTACATGAGTTTTGTGTGTAGTGAGTGTACATGAGTG TGTTGTGTGTGTGGTGGGTGTGGGTGTTTTGAGTGTGTGTGAGTATACAT GAGTGTTGTGTATGTGTGTTGTGAGTGTATGTGTATGTATGAAAGCGTGT TGTGTGTGTTGTGTATGAGTGTGTTGTGTGTATGTGTTGTGCATATGAGT GTGTCGTGTGTGAGTGTATGGGAGTGTGTTGTGAATGTATATGAGTATGT GTTGTGTATATGAGTGTGTTGTGTGTGTGAGTGTACGTGTGTTGTGAGTG TATGGGAGTGTGTTGTGAATGTGTACGAGTGTGTGTATGAGTATGTGTTG TG		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97339102	G G	GTGTGCTA others(1973): Show GTGTGCTATGAGTGCATGTGTTGTCTGTAGTGTATCTGTGTTGCATGTGT ATTGTGAGTGTACGTGTGTTGTGTGTAGTGAATGTATTATGTGTGGTGTA TGACTGTGTTGTGAGTATATGTGAGTGTACGTGTTTTTTGTGTGCATGAG TGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAGTACATGAGTGTGTGTGT AGTGTGTTGAGTGCTGTGTGTGTATAGTGTTATAGTGTGAGTGTAAGTGT ACATGAGGATATTGTGTATGAACATATGTGAATGTGAGTGTATGAGTGTA CATGAGTGTGTTGTATGTGAGTGTGTGTATGATCATATGAGTGTGTTGTG TGTGAGTGTACATGAGTGTTGTGTTGGTGTGTATGAGTGTACACGAATGT GTTGGTGTTGTATGTGAGTGTACATGTGTTGTTTGTGTATAGTGTGAGTG TACATCAGTGCGTTGTGGGTGTGTGTACTGCAAGTATGTGTGTACGTGAG TGTATTGTGAGTGTATATTAGTGTGTTGTCAGTGTATATACTGTGAGTAC GAGTGTATTGTGTATGTGTGTAGTGTATGTGTGTACATGTGTGGTGTATT GTGAGTGTACATTAGTTTTGTGTGTACATGTGTTGTGTGTGTACATGAGT GTTATTTTATGTGAGTGTACAGTGTGTGAGTGTACAAGTGTGTGTTGAGT GTACGAGTGTTGGGTGTGAATGTGTGTGTTGTGAGTGTATGTATGTGTGT ACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTGTATGTGACTGCTGTGTG TATAGTGTATGTGCGTGTACATGACTGTGTTGTGTATGGGACTGTTTACA TGAGTGTGTTTGAGTGTACATGTATTGTGTGTAGTGAGTATATGTGAGTG TACATAAGTGTGTATGTGTGTTGTGAGAGTGTATGTGGGTGTGAGTGTAC ATGAGTGTGTTTTGTGTTGAGTGTACATGAGTGTTTTGTGAGTGTGTGGG AGGTGTAGGTGTGTTGTGAGTGTGTGTTGTGAGTGTATGTGATGTGTGTG TTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTTGT GTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTTGTGAG TGTATGAGTACACATGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTTTG TGTGTATGTGGGTGTGTTGTGTTGTGTGAGAGTAGAAGTGTTTGTGTGTG TTGTGTGTGTTTTGAGTATGTGAGTATACATGGGTGTGTGTGTTGAGTAT ATGCGTATCTGAGTGTATAGTGTGTATATGTGACTATACATGAGTGTGGT GTGTTTCGAGCATGCAAGTGTTGTGTGTAGTGAGTGTACATGAGTGTGTG TGGTGAGTGTGGGTGTGTTTTGAGTGTGTGAGTGTATATGAGTGTTGTGT GTATGTGCGTGTTGTGAGTGTTTGTGAGTGTACATGAGTGTGTTGAGTGT ATGAACGTTGTGTGAGAGTACAAGTGTTTGTGTGTAAGTGTGTGTGTTGT GTGTTTTGAGTATGTGAGTATACATGAGTGTGTGTTGAGTATGTGTATCT GAGTGTATATGTGTATATGTGAGTGTACCTGAGTGTGTTGTGTTTCGAGT ACATGAGTTTTGTGTGTAGTGAGTGTACATGAGTGTGTTGTGTGTGTGGT GGGTGTGGGTGTTTTGAGTGTGTGTGAGTATACATGAGTGTTGTGTATGT GTGTTGTGAGTGTATGTGTATGTATGAAAGCGTGTTGTGTGTGTTGTGTA TGAGTGTGTTGTGTGTGTGTTGTGCATATGAGTGTGTCGTGTGTGAGTGT ATGGGAGTGTGTTGTGAATGTATATGAGTATGTGTTGTGTATATGAGTGT GTTGTGTGTGTGAGTGTACGTGTGTTGTGAGTGTATGGGAGTGTGTTGTG AATGTGTACGAGTGTGTGTATGAGTATGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	3	0.3333	1980	c.340 others(1997): Show c.340-3910_340-3909insCTATGAGTGCATGTGTTGTCTGTAGTGT ATCTGTGTTGCATGTGTATTGTGAGTGTACGTGTGTTGTGTGTAGTGAAT GTATTATGTGTGGTGTATGACTGTGTTGTGAGTATATGTGAGTGTACGTG TTTTTTGTGTGCATGAGTGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAG TACATGAGTGTGTGTGTAGTGTGTTGAGTGCTGTGTGTGTATAGTGTTAT AGTGTGAGTGTAAGTGTACATGAGGATATTGTGTATGAACATATGTGAAT GTGAGTGTATGAGTGTACATGAGTGTGTTGTATGTGAGTGTGTGTATGAT CATATGAGTGTGTTGTGTGTGAGTGTACATGAGTGTTGTGTTGGTGTGTA TGAGTGTACACGAATGTGTTGGTGTTGTATGTGAGTGTACATGTGTTGTT TGTGTATAGTGTGAGTGTACATCAGTGCGTTGTGGGTGTGTGTACTGCAA GTATGTGTGTACGTGAGTGTATTGTGAGTGTATATTAGTGTGTTGTCAGT GTATATACTGTGAGTACGAGTGTATTGTGTATGTGTGTAGTGTATGTGTG TACATGTGTGGTGTATTGTGAGTGTACATTAGTTTTGTGTGTACATGTGT TGTGTGTGTACATGAGTGTTATTTTATGTGAGTGTACAGTGTGTGAGTGT ACAAGTGTGTGTTGAGTGTACGAGTGTTGGGTGTGAATGTGTGTGTTGTG AGTGTATGTATGTGTGTACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTG TATGTGACTGCTGTGTGTATAGTGTATGTGCGTGTACATGACTGTGTTGT GTATGGGACTGTTTACATGAGTGTGTTTGAGTGTACATGTATTGTGTGTA GTGAGTATATGTGAGTGTACATAAGTGTGTATGTGTGTTGTGAGAGTGTA TGTGGGTGTGAGTGTACATGAGTGTGTTTTGTGTTGAGTGTACATGAGTG TTTTGTGAGTGTGTGGGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTGAG TGTATGTGATGTGTGTGTTGTGTTGTGTTGTGAGTGTATGAGTACACATG AGTGTTGTATGTGTTGTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTG TTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTTGT GTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGAGT AGAAGTGTTTGTGTGTGTTGTGTGTGTTTTGAGTATGTGAGTATACATGG GTGTGTGTGTTGAGTATATGCGTATCTGAGTGTATAGTGTGTATATGTGA CTATACATGAGTGTGGTGTGTTTCGAGCATGCAAGTGTTGTGTGTAGTGA GTGTACATGAGTGTGTGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGAGT GTATATGAGTGTTGTGTGTATGTGCGTGTTGTGAGTGTTTGTGAGTGTAC ATGAGTGTGTTGAGTGTATGAACGTTGTGTGAGAGTACAAGTGTTTGTGT GTAAGTGTGTGTGTTGTGTGTTTTGAGTATGTGAGTATACATGAGTGTGT GTTGAGTATGTGTATCTGAGTGTATATGTGTATATGTGAGTGTACCTGAG TGTGTTGTGTTTCGAGTACATGAGTTTTGTGTGTAGTGAGTGTACATGAG TGTGTTGTGTGTGTGGTGGGTGTGGGTGTTTTGAGTGTGTGTGAGTATAC ATGAGTGTTGTGTATGTGTGTTGTGAGTGTATGTGTATGTATGAAAGCGT GTTGTGTGTGTTGTGTATGAGTGTGTTGTGTGTGTGTTGTGCATATGAGT GTGTCGTGTGTGAGTGTATGGGAGTGTGTTGTGAATGTATATGAGTATGT GTTGTGTATATGAGTGTGTTGTGTGTGTGAGTGTACGTGTGTTGTGAGTG TATGGGAGTGTGTTGTGAATGTGTACGAGTGTGTGTATGAGTATGTGTTG TG		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97339102	G G	GTGTGCTA others(1973): Show GTGTGCTATGAGTGCATGTGTTGTCTGTAGTGTATCTGTGTTGCATGTGT ATTGTGAGTGTACGTGTGTTGTGTGTAGTGAATGTATTATGTGTGGTGTA TGACTGTGTTGTGAGTATATGTGAGTGTACGTGTTTTTTGTGTGCATGAG TGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAGTACATGAGTGTGTGTGT AGTGTGTTGAGTGCTGTGTGTGTATAGTGTTATAGTGTGAGTGTAAGTGT ACATGAGGATATTGTGTATGAACATATGTGAATGTGAGTGTATGAGTGTA CATGAGTGTGTTGTATGTGAGTGTGTGTATGATCATATGAGTGTGTTGTG TGTGAGTGTACATGAGTGTTGTGTTGGTGTGTATGAGTGTACACGAATGT GTTGGTGTTGTATGTGAGTGTACATGTGTTGTTTGTGTATAGTGTGAGTG TACATCAGTGCGTTGTGGGTGTGTGTACTGCAAGTATGTGTGTACGTGAG TGTATTGTGAGTGTATATTAGTGTGTTGTCAGTGTATATACTGTGAGTAC GAGTGTATTGTGTATGTGTGTAGTGTATGTGTGTACATGTGTGGTGTATT GTGAGTGTACATTAGTTTTGTGTGTACATGTGTTGTGTGTGTACATGAGT GTTATTTTATGTGAGTGTACAGTGTGTGAGTGTACAAGTGTGTGTTGAGT GTACGAGTGTTGGGTGTGAATGTGTGTGTTGTGAGTGTATGTATGTGTGT ACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTGTATGTGACTGCTGTGTG TATAGTGTATGTGCGTGTACATGACTGTGTTGTGTATGGGACTGTTTACA TGAGTGTGTTTGAGTGTACATGTATTGTGTGTAGTGAGTATATGTGAGTG TACATAAGTGTGTATGTGTGTTGTGAGAGTGTATGTGGGTGTGAGTGTAC ATGAGTGTGTTTTGTGTTGTGAGTGTACATGAGTGTTTTGTGAGTGTGTG GGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTGAGTGTATGTGATGTGTG TGTTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTT GTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTTGTG AGTGTATGAGTACACATGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTT TGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGAGTAGAAGTGTTTGTGTG TGTTGTGTGTGTTTTGAGTATGTGAGTATACATGGGTGTGTGTGTTGAGT ATATGCGTATCTGAGTGTATAGTGTGTATATGTGACTATACATGAGTGTG GTGTGTTTTGAGCATGCAAGTGTTGTGTGTAGTGAGTGTACATGAGTGTG TGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGAGTGTATATGAGTGTTGT GTGTATGTGCGTGTTGTGTTTGTGAGTGTACATGAGTGTGTTGAGTGTAT GAACGTTGTGTGAGAGTACAAGTGTTTGTGTGTAAGTGTGTGTGTTGTGT GTTTTGAGTATGTGAGTATACATGAGTGTGTGTTGAATATGTGTATCTGA GTGTATATGTGTATATGTGAGTGTACCTGAGTGTGTTGTGTTTCGAGTAC ATGAGTTTTGTGTGTAGTGAGTGTACATGAGTGTGTTGTGTGTGTGGTGG GTGTGGGTGTTTTGAGTGTGTGTGAGTATACATGAGTGTGTTGTGTATGT GTGTTGTGAGTGTATGTGTATGTATGAAAGCGTGTTGTGTGTGTTGTGTA TGAGTGTGTTGTGTGTATGTGTTGTGCACATGAGTGTGTCGTGTGTGAGT GTATGGGAGTGTGTTGTGAATGTATATGAGTATGTGTTGTGTATATGAGT GTGTTGTGTGTGAGTGTACGTGTGTTGTGAGTGTATGGGAGTGTGTTGTG AATGTGTACGAGTGTGTGTATGAGTATGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18945.hp2 HG00558.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0001g0100 a0001c0001t0001g0141	2	4	0.5000	1980	c.340 others(1997): Show c.340-3910_340-3909insCTATGAGTGCATGTGTTGTCTGTAGTGT ATCTGTGTTGCATGTGTATTGTGAGTGTACGTGTGTTGTGTGTAGTGAAT GTATTATGTGTGGTGTATGACTGTGTTGTGAGTATATGTGAGTGTACGTG TTTTTTGTGTGCATGAGTGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAG TACATGAGTGTGTGTGTAGTGTGTTGAGTGCTGTGTGTGTATAGTGTTAT AGTGTGAGTGTAAGTGTACATGAGGATATTGTGTATGAACATATGTGAAT GTGAGTGTATGAGTGTACATGAGTGTGTTGTATGTGAGTGTGTGTATGAT CATATGAGTGTGTTGTGTGTGAGTGTACATGAGTGTTGTGTTGGTGTGTA TGAGTGTACACGAATGTGTTGGTGTTGTATGTGAGTGTACATGTGTTGTT TGTGTATAGTGTGAGTGTACATCAGTGCGTTGTGGGTGTGTGTACTGCAA GTATGTGTGTACGTGAGTGTATTGTGAGTGTATATTAGTGTGTTGTCAGT GTATATACTGTGAGTACGAGTGTATTGTGTATGTGTGTAGTGTATGTGTG TACATGTGTGGTGTATTGTGAGTGTACATTAGTTTTGTGTGTACATGTGT TGTGTGTGTACATGAGTGTTATTTTATGTGAGTGTACAGTGTGTGAGTGT ACAAGTGTGTGTTGAGTGTACGAGTGTTGGGTGTGAATGTGTGTGTTGTG AGTGTATGTATGTGTGTACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTG TATGTGACTGCTGTGTGTATAGTGTATGTGCGTGTACATGACTGTGTTGT GTATGGGACTGTTTACATGAGTGTGTTTGAGTGTACATGTATTGTGTGTA GTGAGTATATGTGAGTGTACATAAGTGTGTATGTGTGTTGTGAGAGTGTA TGTGGGTGTGAGTGTACATGAGTGTGTTTTGTGTTGTGAGTGTACATGAG TGTTTTGTGAGTGTGTGGGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTG AGTGTATGTGATGTGTGTGTTGTGTTGTGTTGTGAGTGTATGAGTACACA TGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTTTGTGTGTATGTGGGTG TGTTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTT GTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGA GTAGAAGTGTTTGTGTGTGTTGTGTGTGTTTTGAGTATGTGAGTATACAT GGGTGTGTGTGTTGAGTATATGCGTATCTGAGTGTATAGTGTGTATATGT GACTATACATGAGTGTGGTGTGTTTTGAGCATGCAAGTGTTGTGTGTAGT GAGTGTACATGAGTGTGTGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGA GTGTATATGAGTGTTGTGTGTATGTGCGTGTTGTGTTTGTGAGTGTACAT GAGTGTGTTGAGTGTATGAACGTTGTGTGAGAGTACAAGTGTTTGTGTGT AAGTGTGTGTGTTGTGTGTTTTGAGTATGTGAGTATACATGAGTGTGTGT TGAATATGTGTATCTGAGTGTATATGTGTATATGTGAGTGTACCTGAGTG TGTTGTGTTTCGAGTACATGAGTTTTGTGTGTAGTGAGTGTACATGAGTG TGTTGTGTGTGTGGTGGGTGTGGGTGTTTTGAGTGTGTGTGAGTATACAT GAGTGTGTTGTGTATGTGTGTTGTGAGTGTATGTGTATGTATGAAAGCGT GTTGTGTGTGTTGTGTATGAGTGTGTTGTGTGTATGTGTTGTGCACATGA GTGTGTCGTGTGTGAGTGTATGGGAGTGTGTTGTGAATGTATATGAGTAT GTGTTGTGTATATGAGTGTGTTGTGTGTGAGTGTACGTGTGTTGTGAGTG TATGGGAGTGTGTTGTGAATGTGTACGAGTGTGTGTATGAGTATGTGTTG TG		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97339102	G G	GTGTGCTA others(1973): Show GTGTGCTATGAGTGCATGTGTTGTCTGTAGTGTATCTGTGTTGCATGTGT ATTGTGAGTGTACGTGTGTTGTGTGTAGTGAATGTATTATGTGTGGTGTA TGACTGTGTTGTGAGTATATGTGAGTGTACGTGTTTTTTGTGTGCATGAG TGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAGTACATGAGTGTGTGTGT AGTGTGTTGAGTGCTGTGTGTGTATAGTGTTATAGTGTGAGTGTAAGTGT ACATGAGGATATTGTGTATGAACATATGTGAATGTGAGTGTATGAGTGTA CATGAGTGTGTTGTATGTGAGTGTGTGTATGATCATATGAGTGTGTTGTG TGTGAGTGTACATGAGTGTTGTGTTGGTGTGTATGAGTGTACACGAATGT GTTGGTGTTGTATGTGAGTGTACATGTGTTGTTTGTGTATAGTGTGAGTG TACATCAGTGCGTTGTGGGTGTGTGTACTGCAAGTATGTGTGTACGTGAG TGTATTGTGAGTGTATATTAGTGTGTTGTCAGTGTATATACTGTGAGTAC GAGTGTATTGTGTATGTGTGTAGTGTATGTGTGTACATGTGTGGTGTATT GTGAGTGTACATTAGTTTTGTGTGTACATGTGTTGTGTGTGTACATGAGT GTTATTTTATGTGAGTGTACAGTGTGTGAGTGTACAAGTGTGTGTTGAGT GTACGAGTGTTGGGTGTGAATGTGTGTGTTGTGAGTGTATGTATGTGTGT ACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTGTATGTGACTGCTGTGTG TATAGTGTATGTGCGTGTACATGACTGTGTTGTGTATGGGACTGTTTACA TGAGTGTGTTTGAGTGTACATGTATTGTGTGTAGTGAGTATATGTGAGTG TACATAAGTGTGTATGTGTGTTGTGAGAGTGTATGTGGGTGTGAGTGTAC ATGAGTGTGTTTTGTGTTGTGAGTGTACATGAGTGTTTTGTGAGTGTGTG GGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTGAGTGTATGTGATGTGTG TGTTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTT GTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTTGTG AGTGTATGAGTACACATGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTT TGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGAGTAGAAGTGTTTGTGTG TGTTGTGTGTGTTTTGAGTATGTGAGTATACATGGGTGTGTGTGTTGAGT ATATGCGTATCTGAGTGTATAGTGTGTATATGTGACTATACATGAGTGTG GTGTGTTTTGAGCATGCAAGTGTTGTGTGTAGTGAGTGTACATGAGTGTG TGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGAGTGTATATGAGTGTTGT GTGTATGTGCGTGTTGTGTTTGTGAGTGTACATGAGTGTGTTGAGTGTAT GAACGTTGTGTGAGAGTACAAGTGTTTGTGTGTAAGTGTGTGTGTTGTGT GTTTTGAGTATGTGAGTATACATGAGTGTGTGTTGAATATGTGTATCTGA GTGTATATGTGTATATGTGAGTGTACCTGAGTGTGTTGTGTTTCGAGTAC ATGAGTTTTGTGTGTAGTGAGTGTACATGAGTGTGTTGTGTGTGTGGTGG GTGTGGGTGTTTTGAGTGTGTGTGAGTATACATGAGTGTGTTGTGTATGT GTGTTGTGAGTGTATGTGTATGTATGAAAGCGTGTTGTGTGTGTTGTGTA TGAGTGTGTTGTGTGTATGTGTTGTGCATATGAGTGTGTCGTGTGTGAGT GTATGGGAGTGTGTTGTGAATGTATATGAGTATGTGTTGTGTATATGAGT GTGTTGTGTGTGAGTGTACGTGTGTTGTGAGTGTATGGGAGTGTGTTGTG AATGTGTACGAGTGTGTGTATGAGTATGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00642.hp2 others(24): Show HG00099.hp1 HG00438.hp2 HG00642.hp2 HG01070.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG02027.hp1 HG02056.hp2 HG02165.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02698.hp2 HG03225.hp1 HG03239.hp1 HG03540.hp1 HG03669.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp1 NA18986.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0020 others(24): Show a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0217 a0001c0001t0001g0218	27	29	0.9310	1980	c.340 others(1997): Show c.340-3910_340-3909insCTATGAGTGCATGTGTTGTCTGTAGTGT ATCTGTGTTGCATGTGTATTGTGAGTGTACGTGTGTTGTGTGTAGTGAAT GTATTATGTGTGGTGTATGACTGTGTTGTGAGTATATGTGAGTGTACGTG TTTTTTGTGTGCATGAGTGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAG TACATGAGTGTGTGTGTAGTGTGTTGAGTGCTGTGTGTGTATAGTGTTAT AGTGTGAGTGTAAGTGTACATGAGGATATTGTGTATGAACATATGTGAAT GTGAGTGTATGAGTGTACATGAGTGTGTTGTATGTGAGTGTGTGTATGAT CATATGAGTGTGTTGTGTGTGAGTGTACATGAGTGTTGTGTTGGTGTGTA TGAGTGTACACGAATGTGTTGGTGTTGTATGTGAGTGTACATGTGTTGTT TGTGTATAGTGTGAGTGTACATCAGTGCGTTGTGGGTGTGTGTACTGCAA GTATGTGTGTACGTGAGTGTATTGTGAGTGTATATTAGTGTGTTGTCAGT GTATATACTGTGAGTACGAGTGTATTGTGTATGTGTGTAGTGTATGTGTG TACATGTGTGGTGTATTGTGAGTGTACATTAGTTTTGTGTGTACATGTGT TGTGTGTGTACATGAGTGTTATTTTATGTGAGTGTACAGTGTGTGAGTGT ACAAGTGTGTGTTGAGTGTACGAGTGTTGGGTGTGAATGTGTGTGTTGTG AGTGTATGTATGTGTGTACGCGTGTGTTGTGTGTTGAGTGTATGCAAGTG TATGTGACTGCTGTGTGTATAGTGTATGTGCGTGTACATGACTGTGTTGT GTATGGGACTGTTTACATGAGTGTGTTTGAGTGTACATGTATTGTGTGTA GTGAGTATATGTGAGTGTACATAAGTGTGTATGTGTGTTGTGAGAGTGTA TGTGGGTGTGAGTGTACATGAGTGTGTTTTGTGTTGTGAGTGTACATGAG TGTTTTGTGAGTGTGTGGGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTG AGTGTATGTGATGTGTGTGTTGTGTTGTGTTGTGAGTGTATGAGTACACA TGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTTTGTGTGTATGTGGGTG TGTTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTT GTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGA GTAGAAGTGTTTGTGTGTGTTGTGTGTGTTTTGAGTATGTGAGTATACAT GGGTGTGTGTGTTGAGTATATGCGTATCTGAGTGTATAGTGTGTATATGT GACTATACATGAGTGTGGTGTGTTTTGAGCATGCAAGTGTTGTGTGTAGT GAGTGTACATGAGTGTGTGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGA GTGTATATGAGTGTTGTGTGTATGTGCGTGTTGTGTTTGTGAGTGTACAT GAGTGTGTTGAGTGTATGAACGTTGTGTGAGAGTACAAGTGTTTGTGTGT AAGTGTGTGTGTTGTGTGTTTTGAGTATGTGAGTATACATGAGTGTGTGT TGAATATGTGTATCTGAGTGTATATGTGTATATGTGAGTGTACCTGAGTG TGTTGTGTTTCGAGTACATGAGTTTTGTGTGTAGTGAGTGTACATGAGTG TGTTGTGTGTGTGGTGGGTGTGGGTGTTTTGAGTGTGTGTGAGTATACAT GAGTGTGTTGTGTATGTGTGTTGTGAGTGTATGTGTATGTATGAAAGCGT GTTGTGTGTGTTGTGTATGAGTGTGTTGTGTGTATGTGTTGTGCATATGA GTGTGTCGTGTGTGAGTGTATGGGAGTGTGTTGTGAATGTATATGAGTAT GTGTTGTGTATATGAGTGTGTTGTGTGTGAGTGTACGTGTGTTGTGAGTG TATGGGAGTGTGTTGTGAATGTGTACGAGTGTGTGTATGAGTATGTGTTG TG		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97339102	G G	GTGTGCTA others(1973): Show GTGTGCTATGAGTGCATGTGTTGTCTGTAGTGTATCTGTGTTGCATGTGT ATTGTGAGTGTACGTGTGTTGTGTGTAGTGAATGTATTATGTGTGGTGTA TGACTGTGTTGTGAGTATATGTGAGTGTACGTGTTTTTTGTGTGCATGAG TGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAGTACATGAGTGTGTGTGT AGTGTGTTGAGTGCTGTGTGTGTATAGTGTTATAGTGTGAGTGTAAGTGT ACATGAGGATATTGTGTATGAACATATGTGAATGTGAGTGTATGAGTGTA CATGAGTGTGTTGTATGTGAGTGTGTGTATGATCATATGAGTGTGTTGTG TGTGAGTGTACATGAGTGTTGTGTTGGTGTGTATGAGTGTACACGAATGT GTTGGTGTTGTATGTGAGTGTACATGTGTTGTTTGTGTATAGTGTGAGTG TACATCAGTGCGTTGTGGGTGTGTGTACTGCAAGTATGTGTGTACGTGAG TGTATTGTGAGTGTATATTAGTGTGTTGTCAGTGTATATACTGTGAGTAC GAGTGTATTGTGTATGTGTGTAGTGTATGTGTGTACATGTGTGGTGTATT GTGAGTGTACATTAGTTTTGTGTGTACATGTGTTGTGTGTGTACATGAGT GTTATTTTATGTGAGTGTACAGTGTGTGAGTGTACAAGTGTGTGTTGAGT GTACGAGTGTTGGGTGTGAATGTGTGTGTTGTGAGTGTATGTATGTGTGT ATGCGTGTGTTGTGTGTTGAGTGTATGCAAGTGTATGTGACTGCTGTGTG TATAGTGTATGTGCGTGTACATGACTGTGTTGTGTATGGGACTGTTTACA TGAGTGTGTTTGAGTGTACATGTATTGTGTGTAGTGAGTATATGTGAGTG TACATAAGTGTGTATGTGTGTTGTGAGAGTGTATGTGGGTGTGAGTGTAC ATGAGTGTGTTTTGTGTTGTGAGTGTACATGAGTGTTTTGTGAGTGTGTG GGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTGAGTGTATGTGATGTGTG TGTTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTT GTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTTGTG AGTGTATGAGTACACATGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTT TGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGAGTAGAAGTGTTTGTGTG TGTTGTGTGTGTTTTGAGTATGTGAGTATACATGGGTGTGTGTGTTGAGT ATATGCGTATCTGAGTGTATAGTGTGTATATGTGACTATACATGAGTGTG GTGTGTTTTGAGCATGCAAGTGTTGTGTGTAGTGAGTGTACATGAGTGTG TGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGAGTGTATATGAGTGTTGT GTGTATGTGCGTGTTGTGTTTGTGAGTGTACATGAGTGTGTTGAGTGTAT GAACGTTGTGTGAGAGTACAAGTGTTTGTGTGTAAGTGTGTGTGTTGTGT GTTTTGAGTATGTGAGTATACATGAGTGTGTGTTGAATATGTGTATCTGA GTGTATATGTGTATATGTGAGTGTACCTGAGTGTGTTGTGTTTCGAGTAC ATGAGTTTTGTGTGTAGTGAGTGTACATGAGTGTGTTGTGTGTGTGGTGG GTGTGGGTGTTTTGAGTGTGTGTGAGTATACATGAGTGTGTTGTGTATGT GTGTTGTGAGTGTATGTGTATGTATGAAAGCGTGTTGTGTGTGTTGTGTA TGAGTGTGTTGTGTGTATGTGTTGTGCATATGAGTGTGTCGTGTGTGAGT GTATGGGAGTGTGTTGTGAATGTATATGAGTATGTGTTGTGTATATGAGT GTGTTGTGTGTGAGTGTACGTGTGTTGTGAGTGTATGGGAGTGTGTTGTG AATGTGTACGAGTGTGTGTATGAGTATGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	3	0.3333	1980	c.340 others(1997): Show c.340-3910_340-3909insCTATGAGTGCATGTGTTGTCTGTAGTGT ATCTGTGTTGCATGTGTATTGTGAGTGTACGTGTGTTGTGTGTAGTGAAT GTATTATGTGTGGTGTATGACTGTGTTGTGAGTATATGTGAGTGTACGTG TTTTTTGTGTGCATGAGTGTCCTGTGTGTGTAGTGTTATGAGTGTGAGAG TACATGAGTGTGTGTGTAGTGTGTTGAGTGCTGTGTGTGTATAGTGTTAT AGTGTGAGTGTAAGTGTACATGAGGATATTGTGTATGAACATATGTGAAT GTGAGTGTATGAGTGTACATGAGTGTGTTGTATGTGAGTGTGTGTATGAT CATATGAGTGTGTTGTGTGTGAGTGTACATGAGTGTTGTGTTGGTGTGTA TGAGTGTACACGAATGTGTTGGTGTTGTATGTGAGTGTACATGTGTTGTT TGTGTATAGTGTGAGTGTACATCAGTGCGTTGTGGGTGTGTGTACTGCAA GTATGTGTGTACGTGAGTGTATTGTGAGTGTATATTAGTGTGTTGTCAGT GTATATACTGTGAGTACGAGTGTATTGTGTATGTGTGTAGTGTATGTGTG TACATGTGTGGTGTATTGTGAGTGTACATTAGTTTTGTGTGTACATGTGT TGTGTGTGTACATGAGTGTTATTTTATGTGAGTGTACAGTGTGTGAGTGT ACAAGTGTGTGTTGAGTGTACGAGTGTTGGGTGTGAATGTGTGTGTTGTG AGTGTATGTATGTGTGTATGCGTGTGTTGTGTGTTGAGTGTATGCAAGTG TATGTGACTGCTGTGTGTATAGTGTATGTGCGTGTACATGACTGTGTTGT GTATGGGACTGTTTACATGAGTGTGTTTGAGTGTACATGTATTGTGTGTA GTGAGTATATGTGAGTGTACATAAGTGTGTATGTGTGTTGTGAGAGTGTA TGTGGGTGTGAGTGTACATGAGTGTGTTTTGTGTTGTGAGTGTACATGAG TGTTTTGTGAGTGTGTGGGAGGTGTAGGTGTGTTGTGAGTGTGTGTTGTG AGTGTATGTGATGTGTGTGTTGTGTTGTGTTGTGAGTGTATGAGTACACA TGAGTGTTGTATGTGTTGTGTGTGTACGAGCGTTTGTGTGTATGTGGGTG TGTTGTGTTGTGTTGTGAGTGTATGAGTACACATGAGTGTTGTATGTGTT GTGTGTGTACGAGCGTTTGTGTGTATGTGGGTGTGTTGTGTTGTGTGAGA GTAGAAGTGTTTGTGTGTGTTGTGTGTGTTTTGAGTATGTGAGTATACAT GGGTGTGTGTGTTGAGTATATGCGTATCTGAGTGTATAGTGTGTATATGT GACTATACATGAGTGTGGTGTGTTTTGAGCATGCAAGTGTTGTGTGTAGT GAGTGTACATGAGTGTGTGTGGTGAGTGTGGGTGTGTTTTGAGTGTGTGA GTGTATATGAGTGTTGTGTGTATGTGCGTGTTGTGTTTGTGAGTGTACAT GAGTGTGTTGAGTGTATGAACGTTGTGTGAGAGTACAAGTGTTTGTGTGT AAGTGTGTGTGTTGTGTGTTTTGAGTATGTGAGTATACATGAGTGTGTGT TGAATATGTGTATCTGAGTGTATATGTGTATATGTGAGTGTACCTGAGTG TGTTGTGTTTCGAGTACATGAGTTTTGTGTGTAGTGAGTGTACATGAGTG TGTTGTGTGTGTGGTGGGTGTGGGTGTTTTGAGTGTGTGTGAGTATACAT GAGTGTGTTGTGTATGTGTGTTGTGAGTGTATGTGTATGTATGAAAGCGT GTTGTGTGTGTTGTGTATGAGTGTGTTGTGTGTATGTGTTGTGCATATGA GTGTGTCGTGTGTGAGTGTATGGGAGTGTGTTGTGAATGTATATGAGTAT GTGTTGTGTATATGAGTGTGTTGTGTGTGAGTGTACGTGTGTTGTGAGTG TATGGGAGTGTGTTGTGAATGTGTACGAGTGTGTGTATGAGTATGTGTTG TG		MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
MICAL3_chr22_17782649_18029561	17877207	T T	TGGAGGTT others(1973): Show TGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATG GAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGAT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGT TATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTA TGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATG GAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0003 a0002c0016t0003g0003	1	165	0.0061	1980	c.224 others(1999): Show c.2242-5185_2242-5184insCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCATAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTA ACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCC CTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCCTCAC CTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT AACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCC TAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCT CCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTC CCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC ATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAAC CTCCATAACCTCCCTCACCTCCATAACTGCCATAACCTCCATAACTTCCC TAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAATCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTA ACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAAC CTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
NKX1-1_chr4_1397932_1411442	1397968	A A	AGTAGATC others(1973): Show AGTAGATCAGGTTGGATGCCGGGTGCTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATACAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG CTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATACAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG CTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	175	0.0057	1980	c.49 others(1991): Show c.4963_*4964insCCACATCCAGATGCCCGAAAACACCCGGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCAC CCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGTATCCAACCTGATCTACCCACATCCAGATGC CCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGTATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAGCACCCGGCATCCAACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4963		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398257	A A	AGGGTGTT others(1973): Show AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATACAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTT CAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02148.hp2 NA18942.hp1 others(1): Show HG01978.hp2 HG02148.hp2 NA18942.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0003 a0001c0001t0001g0033	4	286	0.0140	1980	c.46 others(1991): Show c.4674_*4675insGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA GCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4674		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398257	A A	AGGGTGTT others(1973): Show AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATACAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTT CAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	284	0.0070	1980	c.46 others(1991): Show c.4674_*4675insGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA GCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4674		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398283	A A	GGTAGATC others(1973): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATACAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	219	0.0046	1980	c.46 others(1991): Show c.4649_*4650insCACATCCAGATGCCCGAAAACACCCGGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGA TCTACCCACATCCAGATGCCTGAAAGCACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGTATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4649		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398283	A A	GGTAGATC others(1973): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATACAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	219	0.0046	1980	c.46 others(1991): Show c.4649_*4650insCACATCCAGATGCCCGAAAACACCCGGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGA TCTACCCACATCCAGATGCCTGAAAGCACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGTATCCAACCTGATCTACCCACATCCAGATGCCCGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4649		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398302	C C	AGGGTGTT others(1973): Show AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGT GCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATACAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCCGGGTGCTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGC ATCTGGATGTGAGTAGATCAGGTTGGATGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	270	0.0037	1980	c.46 others(1991): Show c.4630_*4631insGCATCCAACCTGATCTACTCACATCCAGATGCCC GAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAA CACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCC TGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCAT CCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAAC CTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGAT CTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACC CACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACAT CCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGA TGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCC GAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAA CACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCC TGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCAT CCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGCATCCAAC CTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGAT CTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACC CACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACAT CCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGA TGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCC GAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAA CACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCC TGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCGGCAT CCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAAC CTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGAT CTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACC CACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACAT CCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGA TGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCC GAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAA CACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCC TGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCAT CCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAAC CTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGCATCCAACCTGAT CTACCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTGATCTACC CACATCCAGATGCCCGAAAGCACCCGGCATCCAACCTGATCTACCCACAT CCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGA TGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCC GAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAG CACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCC GGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCT		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4630		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398488	T T	TTTTCGGG others(1973): Show TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG AGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCA GGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCAGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATACAGGGTGCTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	347	0.0029	1980	c.44 others(1991): Show c.4443_*4444insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAGCACCCTGTATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACTCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCTGAAAACACCCGGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGC ATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTA CTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4443		chr4	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(1973): Show CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGA TGTGAACACCGGGAACGGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAG TCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	168	0.0060	1980	c.718 others(1997): Show c.718-5890_718-5889insTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTG TGCACGAGGAGATGTGAACACCGGGAACGGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924480	T T	TGAGGAGA others(1973): Show TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGCGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTG TGCACGAGGAGATGTGAACACCGGGAACGGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	219	0.0046	1980	c.718 others(1997): Show c.718-5338_718-5337insGTAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACA CGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGGT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAAC GGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924576	G G	GTGGATAG others(1973): Show GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAA CACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	287	0.0035	1980	c.718 others(1997): Show c.718-5307_718-5306insACGAGGAGATGTGAACACTGGGAACAGT CGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACA GTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGT CGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PRKAG2_chr7_151551127_151882115	151626784	C C	CCCTCCCT others(1973): Show CCCTCCCTGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAC TGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTATTGGTGC AGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTT TGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCT CAGCTCACAACAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAAT TTTTTTTTTTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTGCCACAGTGC TGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTTTT TTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTT TCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGA TTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAA AGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCA CATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGAT CCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCC ATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCT TTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCC TGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGACACGGCTGGCCGGGCCGGGGGGCTGACCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCA GATGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGG CTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCG GAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCC TCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGAC GGGGTCTCAGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGG GGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGC TCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTC CTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAG AGACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAAT CTTGGCACTTTGGGAGGCCAAGGCAGGCGGCTGCTCCTTGCCCTCGGGCC CCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGC CGGCGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATC CTCCTGGCGGTCGGGCGGCGGCGGCTGCGGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 NA19240.hp2 HG02647.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0014 a0001c0001t0006g0033 a0001c0001t0006g0158 a0001c0001t0003g0014 a0001c0001t0006g0033 a0001c0001t0006g0158	3	234	0.0128	1980	c.754 others(1997): Show c.754+5284_754+5285insACCGCAGCCGCCGCCGCCCGACCGCCAG GAGGATGGAGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGCCGCG CCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCG CGGGGCCCGAGGGCAAGGAGCAGCCGCCTGCCTTGGCCTCCCAAAGTGCC AAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTG TCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATC TAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCT GCCCCGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCTGAGAC CCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAG TGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCC CTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGG CAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCC ATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTCAGCCCCCCGGCCCGGCCAGCCGTGTCATCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGG CCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGG AAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGA CATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTT GGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAAC ATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGT GCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCAC CAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCA GGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGC TGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTG AGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAA AAAAAAAATGGACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATC CCAGCACTGTGGCAGGCCAAGGCGGGCAGATCACCTGAGATCAGGAGTTC AAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAAAAAAA AAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGTTGTGAG CTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCA TCAAAAAAAAAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATG TCTGCACCAATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTT ACAGTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTCAGGGA GG		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151626784	C C	CCCTCCCT others(1973): Show CCCTCCCTGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAC TGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTATTGGTGC AGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTT TGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCT CAGCTCACAACAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAAT TTTTTTTTTTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTGCCACAGTGC TGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCTTTTTT TTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTT TCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGA TTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAA AGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCA CATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGAT CCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCC ATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCT TTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCC TGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGACACGGCTGGCCGGGCCGGGGGGCTGACCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCA GATGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGG CTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCG GAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCC TCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGAC GGGGTCTCAGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGG GGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGC TCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTC CTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAG AGACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAAT CTTGGCACTTTGGGAGGCCAAGGCAGGCGGCTGCTCCTTGCCCTCGGGCC CCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGC CGGCGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATC CTCCTGGCGGTCGGGCGGCGGCGGCTGCGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0244 a0001c0001t0029g0244	1	232	0.0043	1980	c.754 others(1997): Show c.754+5284_754+5285insACCGCAGCCGCCGCCGCCCGACCGCCAG GAGGATGGAGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGCCGCG CCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCG CGGGGCCCGAGGGCAAGGAGCAGCCGCCTGCCTTGGCCTCCCAAAGTGCC AAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTG TCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATC TAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCT GCCCCGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCTGAGAC CCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAG TGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCC CTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGG CAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCC ATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTCAGCCCCCCGGCCCGGCCAGCCGTGTCATCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGG CCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGG AAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGA CATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTT GGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAAC ATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGT GCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCAC CAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCA GGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGC TGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTG AGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAA AAAAAAAAAGGACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATC CCAGCACTGTGGCAGGCCAAGGCGGGCAGATCACCTGAGATCAGGAGTTC AAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAAAAAAA AAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGTTGTGAG CTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCA TCAAAAAAAAAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATG TCTGCACCAATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTT ACAGTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTCAGGGA GG		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
VCX3A_chrX_6528618_6540118	6533404	T T	TCCTCCCT others(1973): Show TCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCT CCTCCCCCCCCCCACACACCACCTCTTCCTCCCTCCCCCTCCCCACACCA CCACCTCTTCCTCCCTCCCTCCCTCCCTCCCACACACCACCCTCTCCTCC CTCCCCTCCCCACACACCTCTTCCTCCCTCCTCCCTCCCCACACACCTCC TCTCCTCCCCCTCCCCACACACCTCTCCTCTTGCCTCCCAACCCACCTCT TCCTCCCCACCCTCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCCTCCCTCCCTCCCTCCCCACACACCACCTCT CTCCTCCCCCTCCCCCACACCACCTCTTCCTCCCTCCCACCCTCCCCCCC TCCTCCACCCACCTCCCTCCCCCCCTCCACCCTCCCTCCCTCCCTCCCCC CCACACACCCCTCCTCCCTCCTCCCTCCCTCCTCTTCTCCTCCTCCCCAC ACACCACCTCTCTCCACCCTCCCTCCCTCCCCACACACCTCCTCTTCCTC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCAACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCTCCTCTTCCTCCTCCCTCCCCACACACCTCTTCCTCCC TCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCT CTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACA CACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	62	0.0161	1980	c.34 others(1989): Show c.340_*341insGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTTGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGGTGGAGAGAGGTGGTGTGTGGG GAGGAGGAGAAGAGGAGGGAGGGAGGAGGGAGGAGGGGTGTGTGGGGGGG AGGGAGGGAGGGAGGGTGGAGGGGGGGAGGGAGGTGGGTGGAGGAGGGGG GGAGGGTGGGAGGGAGGAAGAGGTGGTGTGGGGGAGGGGGAGGAGAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGAGGGTGGGGAGGAAGAGG TGGGTTGGGAGGCAAGAGGAGAGGTGTGTGGGGAGGGGGAGGAGAGGAGG TGTGTGGGGAGGGAGGAGGGAGGAAGAGGTGTGTGGGGAGGGGAGGGAGG AGAGGGTGGTGTGTGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGGTG TGGGGAGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGGGGGGGAGGAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					213		chrX	TogoVar
ADGRE2_chr19_14727392_14783560	14763760	C C	CCTCCTCC others(1974): Show CCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCTTCTGC TCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCTCCTCCTTGTC TCCTCCTCTCTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCTTCTTCCTCT CCTCGTCCTCTCCTCCTCCTCTCCCCTTCCTCCTCTCCTCCCCCTCCTCC TCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCTCCTCCTC TCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTC CTCCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCT CTCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTCTTCTCCTCCTCCTCTC TTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTG CTCCTCTCGTCCTCCTCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTC CTCCTCCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCT CCTCTCCTCCTCTCTTCCTCCTCTCCTCCTCTCTTCCTCCTCTCCTCCTC TCCTCTTCCTCTCCTTCTCCTCTCCTCATCCTGCTCCTCTTGTCCTCCTC TCCTCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCGTCCTC CTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCCTCTCCTC CCCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCCTCCTCTCCTCCCCC TCCTCCTCTCCTCCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTC CTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCTCC TCCTCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCT CCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCTCCTCTTCCTGCTCC TCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCC TCTCCTCCTCCTCCCCTTCTCCTCCTCCCCCTCCTCCTCCCCCTCTCCTC CTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCCTCCTCCTCCCCCTC TCCTCCTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCATCCTCCTCC CCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCTCTCCTCCTCCCCCTCCTC CTCTCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTC CTCCTCTTTTCCTCCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCC TCATCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTTCTCTCCTCTTCCTG CTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCTTGCCCCTC CTCCTCTCCTGCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCT CCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCT TCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCT TCCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCC TTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCTCTCTT CCTCTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTCCTCTC CTCTGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTCCTCCT TCCCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCTTCT TGTCTCCTCCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTCCTCCT CCTCTCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCTCC ACTCCTCCTCTTCCTCCTCTCCTCCTCCTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0041 a0013c0018t0041	a0013c0018t0041g0102 a0013c0018t0041g0102	1	201	0.0050	1981	c.108 others(1998): Show c.1084+672_1084+673insAGAAGGAGGAGGAGAGGAGGAAGAGGAG GAGTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGA GAGGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGA GACAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGA GGGAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGC AGAGGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGA GAGGAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAG AGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGG AGGAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGG AGGAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAG GAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGCAGGAGA GGAGGAGGGGCAAGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGACGAGA GGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGGACGAGAGGAGCAGG ATGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGGAGGAAAAGA GGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGG AGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAGGGGAGGGGGAGGAGGAG AGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGG AGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGG GGAGGAGGAGAGGGGGAGGAGGAGGGGGAGGAGGAGAAGGGGAGGAGGAG GAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGAC GAGAGGAGCAGGAAGAGGAGAGGAGGAGAGGAGGACGAGAGGAGCAGGAA GAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGAGAGG AGGAGGAGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGAGGAGGAGG AGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAAGGGGAGGAGAGG AGGAGGGGGAGGAGAGGAGGAGGAGGAGGGGGAGGAGAGGAGGAGGAGGA GGGGGAGGAGAGGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGG AGAGGAGGACGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGG AGGAGAGGAGGACAAGAGGAGCAGGATGAGGAGAGGAGAAGGAGAGGAAG AGGAGAGGAGGAGAGGAGGAAGAGAGGAGGAGAGGAGGAAGAGAGGAGGA GAGGAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGA GGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGGAGGAGGACGAGA GGAGCAGGAAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAA GGAAGAGAGGAGGAGGAGAAGAAAAGAAGAGGAGGAGGAGGAGAGGAGGA AGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAAGG GGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAGGAGAGGAGGAGG AGGAGAGGAGGAGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAG GAGAGGAGGAGGGGGAGGAGAGGAGGAAGGGGAGAGGAGGAGGAGAGGAC GAGGAGAGGAAGAAGAGAGGAGGAGGAGAGGACGAGGAGAGGAAGAGAGG AGGAGACAAGGAGGAGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAG AGGAGCAGAAGAGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAG GAG		ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20						chr19	TogoVar
CLPTM1L_chr5_1312752_1350099	1333769	T T	TGAGGATA others(1974): Show TGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAGACACA CGGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAG GGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTAT ACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGG ATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGACTAC TGTATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGA TGATAAGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTA CTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCGG ATGAGGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGG GACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACAC ACCGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGATAA GGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA GACACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAG GATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGACTA CTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACGGG ATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGATAAGGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGACTACTGTATACA CATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATA AGGGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGT ATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGA GGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACT ACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCG GATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGG GGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACA CACCAGATGAGGATAAGGGGGGGACTACTGTAGATACACGGGATGAGGAT AAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGACTACTGT ATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGA TAAGGGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGACTACT GTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGAT GAAGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGGA CTACTGTATACACACCGGATGAGGATAAGGGGGACTACTGTAAACACACG GGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGG ACTACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACA CGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGG GACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACAC ACGGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAA GGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA TACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAG GACAAGCGGGAACTACTGTATACACACCGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG00140.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0215 a0001c0001t0002g0217	2	328	0.0061	1981	c.891 others(1996): Show c.891+519_891+520insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCC GTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAG TCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCC CGTGTGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTA GTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCAT CCCGTGTGTTTACAGTAGTCCCCCTTATCCTCATCCGGTGTGTATACAGT AGTCCCCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCT TCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCT TATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGT ATACAGTAGTCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCC TTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCCTTATCCTCATCTGG TGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCA TCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACA GTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGT ATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCC CTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAA TGTGTATACAGTAGTCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTC CCCCCTTATCCTCATCCCGTGTGTGTATACAGTAGTCCCCCCTTATCCTC ATCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATAC AGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTA TCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTG TCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCG GTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAG TCCCCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCCTC ATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATAC AGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTAT CATCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATA CAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTT ATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGT GTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCC CCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCC CGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTA GTCCCCCCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCCTTATCCT C		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16						chr5	TogoVar
DCLK2_chr4_150073445_150262438	150251048	A A	ACCCCCAC others(1974): Show ACCCCCACACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCC CCCACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCAC ACCCCCCACATCCCCCACACCCCTCACATCCCCCACACCCCCCACATCCC CCACACCCCCACACATCCCCCCCACACCACACATCCCCCACACCCCCCAC ATCCCCCATACCCCCCACATCTCCCCACACCCCCCACATCCCCCACACCC CCCACATCTCCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCA CACCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCC CCCACACCCCCCAACACCCCCACACCCCCACACACCCCCGACACCACACA TCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCCC CACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCATAC CCCCCACATCCCCCATACCCCCCACATCCCCCACACCCCCCACATCCCCC ATACCCCCCACATCCCCCACACCCCCCAACACCCCCACACCCCCACACAC CCCCGACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCAC ATCCCCCATACCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCC CCACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCTCCCCAC ACCCCCCACATCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCC CCCATACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCAC ATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCACACCCC CCACATCCCCCATACCCCCCACATCCCCCATACCCCCCACATCCCCCCCA CACCACACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCTCC CCACACCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCCCCACA TCCCCCATACCCCCCACATCCCCCATACCCCCCACATCCCCCATACCCCC CACATCCCCCATACCCCCCACATCCCCCACACCCCCCACATCCCCCATAC CCCCCACATCCCCCATACCCCCCACATCCCCCATACCCCCCACATCCCCC ACACCCCCCACATCCCCCATACCCCCCACATCCCCCACACCCCCCACATC CCCCATACCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCCCCA CATCTCCCCACACCCCCCACATCCCCCACACCCCCCACATCTCCCCACAC CCCCCACATCCCCCATACCCCCCACATCCCCCACACCCCCCACATCCCCC ACACCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATC CCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCATACCCCCCA CATCCCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCATACCC CCCACATCTCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCA TACCCCCCACATCCCCCATACCCCCCACATCCCCCACACCCCCCAACACC CCCACACCCCCACACACCCCCGACACCACACATCCCCCACACCCCCCACA TCCCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCATACCCCC CACATCTCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCATA CCCCCCACATCCCCCATACCCCCCACATCTCCCACACCCCCCACATCCCC CACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCAACA CCCCCACACCCCCCACACACCCCCGACACCACACATCCCCCACACCCCCC ACATCCCCCCCACACCACACATCCCCCACACC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	27	0.0370	1981	c.207 others(2000): Show c.2073+1366_2073+1367insCCCACACACCCCCCACATCCCCCACA CCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCC CATACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCTCACAT CCCCCACACCCCCCACATCCCCCACACCCCCACACATCCCCCCCACACCA CACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCTCCCCACA CCCCCCACATCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCCC CCATACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACA TCCCCCATACCCCCCACATCCCCCACACCCCCCAACACCCCCACACCCCC ACACACCCCCGACACCACACATCCCCCACACCCCCCACATCCCCCACACC CCCCACATCCCCCATACCCCCCACATCCCCCACACCCCCCACATCCCCCA TACCCCCCACATCCCCCATACCCCCCACATCCCCCATACCCCCCACATCC CCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCACACCCCCCAA CACCCCCACACCCCCACACACCCCCGACACCACACATCCCCCACACCCCC CACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCACAC CCCCCACATCCCCCATACCCCCCACATCCCCCACACCCCCCACATCCCCC ATACCCCCCACATCTCCCCACACCCCCCACATCCCCCACACCCCCCACAT CTCCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCACACCCCC CACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCATAC CCCCCACATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCC ATACCCCCCACATCCCCCCCACACCACACATCCCCCACACCCCCCACATC CCCCATACCCCCCACATCTCCCCACACCCCCCACATCCCCCACACCCCCC ACATCCCCCATACCCCCCACATCCCCCATACCCCCCACATCCCCCATACC CCCCACATCCCCCATACCCCCCACATCCCCCATACCCCCCACATCCCCCA CACCCCCCACATCCCCCATACCCCCCACATCCCCCATACCCCCCACATCC CCCATACCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCCCCAC ATCCCCCACACCCCCCACATCCCCCATACCCCCCACATCCCCCACACCCC CCACATCCCCCATACCCCCCACATCTCCCCACACCCCCCACATCCCCCAC ACCCCCCACATCTCCCCACACCCCCCACATCCCCCATACCCCCCACATCC CCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCAC ATCCCCCATACCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCC CCACATCCCCCATACCCCCCACATCCCCCCCACACCACACATCCCCCACA CCCCCCACATCCCCCATACCCCCCACATCTCCCCACACCCCCCACATCCC CCACACCCCCCACATCCCCCATACCCCCCACATCCCCCATACCCCCCACA TCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCGACACCAC ACATCCCCCACACCCCCCACATCCCCCCCACACCACACATCCCCCACACC CCCCACATCCCCCATACCCCCCACATCTCCCCACACCCCCCACATCCCCC ACACCCCCCACATCCCCCATACCCCCCACATCCCCCATACCCCCCACATC TCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCA CATCCCCCACACCCCCCAACACCCCCACACCCCCCACACACCCCCGACAC CACACATCCCCCACACCCCCCACATCCCCCCCACACCACACATCCCCCAC ACCCC		DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
DRG2_chr17_18082948_18112969	18092147	T T	TGATGTCA others(1974): Show TGATGTCAGCATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTAAAGGACATATCATATTTATTCATACACATGCTGGAATTAT TGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTT TTTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGG TGCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCC CAGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTC AGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTGC CACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGT CCATTCTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTGAT AATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAA TAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTT TCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTA CTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAG CATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCT GAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCA CAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAA ATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATC CGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGC CGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCC AGACAGGGTGGTGGCCGGGCAGAGGGGCTCCTCACCTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCCTAC CGGACGGGGCGGCTGGCCGGGTGGGGGGGCTG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	397	0.0025	1981	c.65- others(1996): Show c.65-1650_65-1649insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTAAAGGACATATCATATTTATTCATACACATGCTGGAAT TATTGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTT TTTTTTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAA TGGTGCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCAC GCCCAGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTG GTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCC TGCCACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAA AGTCCATTCTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATT GATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGA CAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGG TTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGA TTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTC AAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAAC CCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGG TCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAAC AAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACC ATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAA AGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCT CCCAGACAGGGTGGTGGCCGGGCAGAGGGGCTCCTCACCTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCC TACCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGGATGTCAGCATATTC T		DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18092147	T T	TGATGTCA others(1974): Show TGATGTCAGCATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTAAGGACATATCATATTTATTCATACACATGCTGGAATTA TTGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTT TTTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGG TGCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCC CAGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTC AGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTGC CACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGT CCATTCTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATA ATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAAT AGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTT CCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTAC TTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGC ATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTG AGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCAC AGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAA TGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCC GATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCC GCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCA GACAGGGTGGTGGCCGGGCAGAGGGGCTCCTCACCTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC AGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCCTAC CGGACGGGGCGGCTGGCCGGGTGGGGGGGCTG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	397	0.0025	1981	c.65- others(1996): Show c.65-1650_65-1649insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTAAGGACATATCATATTTATTCATACACATGCTGGAA TTATTGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTT TTTTTTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAA TGGTGCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCAC GCCCAGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTG GTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCC TGCCACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAA AGTCCATTCTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTG ATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGAC AATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGT TTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGAT TACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCA AGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACC CTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGT CACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACA AAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCA TCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAA GCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTC CCAGACAGGGTGGTGGCCGGGCAGAGGGGCTCCTCACCTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCC TACCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGGATGTCAGCATATTC T		DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXRED1_chr11_126264154_126283126	126276314	T T	TGTGTGTG others(1974): Show TGTGTGTGTGTGTGTGTGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTG TGTGTGTGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGTATGTGT GTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGA GAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGGT GTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTGTGTGTATGGG GTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGTGTATG TGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGGTGTGTGTG TAGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTA TGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTGTGTG TGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGGTTGG GGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGTGTGT GTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGG GTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTATGTGTGTATGGGGTTG GGGAGGGTGTGTGGGGTTGGGGAGGGGGTGTGTGTGTGTTTATGGGGTTG GGGAGGGTGTGTGTGTGTGTGTGTATGGGGTTGGGGAGGGAGGGTGGGTG TGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTAGGGGGTTGGGGAGGG TGTGTGTGTGTGGGTATAGGGTTGGGAAGGGTGTGTGTGTGTGTATGGGG TTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGATGGTGTGTGTGTGTAT GGGGTTGGGGAGGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGGGGGGTG TGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTGTGGACGG GGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTGCAGTTCATAACTGCATT AGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGTATGTGGGGGGGGTTGGG GAGGGGGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGGGTGTGTG TGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGGGGGGGTTGGGGAGGGG GTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGGGGGTTGGGGAG GGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGTGTGTGTGT GTGTGCTGGGTTGGGGAGAGTGTATGTGGGGGGGGTTGGGGAGGGTGTGT GTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGGG GACGGGGTTGGGGTGGGTGTGTGTGTGTATGGGGTTGGGGAGGTGTGTGT ATGTATGTATGGGGTTGGGGAAGGTGTGTGTATGGTGTGTGTGTGTATGG GATTGGGGAGGGGGGTGTGTGTGTGTGTGTATGGGGTCAGGGAGGGTGTG TGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGTGTGGACGGGGTTGGGG AGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGG TTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGG GGACAGGGTTGGGGAGGGTGGAGGGTGTGTGGGGGTGGGAGGTGGACGGG GTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTGGGGAGGGTGT GTGGGGGTGGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGAGG TGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTGGG GAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGG TGCGGGGTAGACAGGGTTGGGGAGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	388	0.0026	1981	c.972 others(1994): Show c.972-79_972-78insTGTGTGTGTGTGTGTGGTGTGTGTGTGTATGG GGTTGGGGAGGGTGTGTGTGTGTGGTGTGTGTGTGTATGTATGGGTTGGG GAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTG TGTATGGGGTTGGGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAG GGTGTGTGTGTGTGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTG TGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTT GGGGAGAGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGT GTGTGTGGTGTGTGTGTAGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTT GGGGAGGGTGTGTGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGG GGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGT GTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGT TGAGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTG TATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTA TGTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGGGGGTGTGTG TGTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTATGGGGTTGG GGAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGT AGGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGTGT GTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGA TGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATGGG GTTGGGGAGGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGT GTGTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTGC AGTTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGTA TGTGGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTATGGGGTT GGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATGTGG GGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATG TGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTG GGGAGGGTGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGGGGG GTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAGGG TGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGTGTATGGGG TTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTGTATG GTGTGTGTGTGTATGGGATTGGGGAGGGGGGTGTGTGTGTGTGTGTATGG GGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGT GTGGACGGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGT GTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGA GGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGGAGGGTGTGTGGGG GTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACG GGGTTGGGGAGGGTGTGTGGGGGTGGGGGGTGGACGGGGTTGGGGAGGGT GTGTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGG GGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGG GGAGGGTGTGTGGGGGTGCGGGGTAGACAGGGTTGGGGAGGGTGTGTGG		FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDGFA_chr7_492258_524846	494690	C C	CGGGGGAT others(1974): Show CGGGGGATCCGTGAGGGGGATGGGGGATCCGTGAGGGGACGGGGGATCTG TGAGGGGACGGGGGATCCGTGAGGGGGATGGGGGATCTGTGAGGGGACGG GGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGACGGGGGATCTGTG AGGGGACGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGACG GGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGAT CTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGA GGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATG GAGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGAT CTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGG GGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCCGTGAGGGGACGG GGGATCTGTGAGGGGGACGGGGGATCCGTGAGGGGACGGGGGATCTGTGA GGGGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCTGTGAGGGGGATG GAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGG ATCTGTGAGGGGGACGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGA GGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGAATCTGTGAGGGGGAT GGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATC TGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAG GGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGG GGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCCG TGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGG ATGGAGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGG GATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTG AGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGAT GGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGA TCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCCGTG AGGGGACGGGGGATCTGTGAGGGGGACGGGGGATCCGTGAGGGGGACGGG GGATCTGTGAGGGGGATGGAGGGGATCCGTGAGGGGGACGGGGGAATCCG TGAGGGGACGGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATG GGGGATCTGTGAGGGGGACAGGGGATCCGTGAGGGGACGGGGGATCTGTG AGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGAT GGAGGGGATCCGTGAGGGGGACGGGGGATCTGTGAGGGGGATGGGGGATC TCTGAGGGGGACGGGGGATCTGTGAGGGGACGGGGGATCCGTGAGGGGGA TGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGG ATCTGTGAGGGGGACGGGGGATCCGTGAGGGGGACGGGGGATCTGTGAGG GGGACGGGGGATCTGTGAGGGGGACAGGGGATCTGTGAGGGGACGGGGGA TCCGTGAGGGGGATGGGGGATCCGTGAGGGGGACGGGGGATCCGTGAGGG GGATGGGGGATCCGTGAGGGGACGGGGGATCTGTGAGGGGGATGGGGGAT CTGTGAGGGGGACGGGGGATCTGTGAGGGGGACGGGGGATCCGTGAGGGG GATGGGGGATCTGTGAGGGGGACGGGGGATCTGTGAGGGGACGGGGGATC TGTGAGGAGGACGGGGGGATCTGTGAGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0096 a0001c0007t0096	a0001c0007t0096g0202 a0001c0007t0096g0202	1	193	0.0052	1981	c.38 others(1992): Show c.3873_*3874insATCCCCTCACAGATCCCCCCGTCCTCCTCACAGA TCCCCCGTCCCCTCACAGATCCCCCGTCCCCCTCACAGATCCCCCATCCC CCTCACGGATCCCCCGTCCCCCTCACAGATCCCCCGTCCCCCTCACAGAT CCCCCATCCCCCTCACAGATCCCCCGTCCCCTCACGGATCCCCCATCCCC CTCACGGATCCCCCGTCCCCCTCACGGATCCCCCATCCCCCTCACGGATC CCCCGTCCCCTCACAGATCCCCTGTCCCCCTCACAGATCCCCCGTCCCCC TCACAGATCCCCCGTCCCCCTCACGGATCCCCCGTCCCCCTCACAGATCC CCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATC CCCCTCACGGATCCCCCGTCCCCTCACAGATCCCCCGTCCCCCTCAGAGA TCCCCCATCCCCCTCACAGATCCCCCGTCCCCCTCACGGATCCCCTCCAT CCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCA CAGATCCCCCGTCCCCTCACGGATCCCCTGTCCCCCTCACAGATCCCCCA TCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCACG GATTCCCCCGTCCCCCTCACGGATCCCCTCCATCCCCCTCACAGATCCCC CGTCCCCCTCACGGATCCCCCGTCCCCCTCACAGATCCCCCGTCCCCTCA CGGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATC CCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCAT CCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCA CAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCC CTCCATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCTCCATCC CCCTCACGGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACG GATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCC ATCCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCT CACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGA TCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCAT CCCCCTCACAGATTCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTC ACAGATCCCCTCCATCCCCCTCACGGATCCCCCGTCCCCCTCACAGATCC CCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCA TCCCCCTCACAGATCCCCCGTCCCCCTCACAGATCCCCTCCATCCCCCTC ACAGATCCCCCGTCCCCTCACGGATCCCCCGTCCCCCTCACAGATCCCCC GTCCCCTCACGGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCC TCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGAT CCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCTCCA TCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTC ACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGAT CCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCG TCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCGTCCCCTCA CAGATCCCCCGTCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCC GTCCCCTCACAGATCCCCCATCCCCCTCACGGATCCCCCGTCCCCTCACA GATCCCCCGTCCCCTCACGGATCCCCCATCCCCCTCACGGATCCCCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding					2567		chr7	TogoVar
PPP6R2_chr22_50338327_50450090	50397973	A A	AGGGGGGC others(1974): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACC AGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0219 a0001c0005t0002g0219	1	257	0.0039	1981	c.227 others(1998): Show c.227+3860_227+3861insTTGTCATCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCA GCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGG GCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGG CCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCA GCC		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKAG2_chr7_151551127_151882115	151626784	C C	CCCTCCCT others(1974): Show CCCTCCCTGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCA CTGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTATTGGTG CAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTT TTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATC TCAGCTCACAACAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAA TTTTTTTTTTTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGG TCTTGAACTCCTGATCTCAGGTGATCTGCCCGCCTTGGCCTGCCACAGTG CTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTTT TTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGT TTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGG ACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGG ATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACA AAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGC ACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGA TCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCC CATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATC TTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATC CTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGACACGGCTGGCCGGGCCGGGGGGCTGACCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCC AGATGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTG GCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGC GGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTC CTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGA CGGGGTCTCAGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCG GGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACG CTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACTT CCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGG GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCA GAGACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAA TCTTGGCACTTTGGGAGGCCAAGGCAGGCGGCTGCTCCTTGCCCTCGGGC CCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCG CCGGCGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCAT CCTCCTGGCGGTCGGGCGGCGGCGGCTGCGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG01243.hp2 HG02572.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0006 a0005c0012t0006 a0001c0001t0006 a0005c0012t0006	a0001c0001t0006g0023 a0005c0012t0006g0151 a0001c0001t0006g0023 a0005c0012t0006g0151	2	233	0.0086	1981	c.754 others(1998): Show c.754+5284_754+5285insACCGCAGCCGCCGCCGCCCGACCGCCAG GAGGATGGAGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGCCGCG CCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCG CGGGGCCCGAGGGCAAGGAGCAGCCGCCTGCCTTGGCCTCCCAAAGTGCC AAGATTGCAGCCTCTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTG TCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATC TAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCT GCCCCGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCTGAGAC CCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAG TGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCC CTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGG CAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCC ATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTCAGCCCCCCGGCCCGGCCAGCCGTGTCATCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGG CCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGG AAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGA CATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTT GGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAAC ATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGT GCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCAC CAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCA GGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGC TGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTG AGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAA AAAAAAAATGGACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATC CCAGCACTGTGGCAGGCCAAGGCGGGCAGATCACCTGAGATCAGGAGTTC AAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAAAAAAA AAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGCTGTTGTGAG CTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCA TCAAAAAAAAAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATG TCTGCACCAATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTT ACAGTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTCAGGG AGG		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
ZNF407_chr18_74592870_75070671	74617096	A A	ACACACAT others(1974): Show ACACACATCCATATCCGTACACCACACACATCCATATCCACACACCACAC ACATCCATATCCACACACCACACACACCCATATCCACACACCACACACAT CCATATCCACACACATCCATATCCATGCACCACACACATCCATATCCACA CACATCCATTTCCACGCACATCCATATCCACACACCACACACATCCATAT CCATGCACCACACACATCCATATCCACACACCACACACATCCATATCCAC ACACCACACACATCCATATCCACACACCACACATATCCATATCCACACAG CACACACATCCATATCCACACACATCCATATCCACACACATCCATATCCA CGCACCACACACATCCATATCCACGCACCACACGCATCCATATCCACACA CCACACATATCCATATCCACACAGCACACACATCCATATCCACACACATC CATATCCACACACATCCATATCCACGCACCACACACATCCATATCCATAC ACCACACACATCTATATCCACACACCACACACATCCATATCCACACACCA CACACACCCATATCCACACACCACACACATCCATATCCACACACATCCAT ATCCATGCACCACACACATCCATATCCACACACATCCATTTCCACGCACA TCCATATCCACACACCACACACATCCATATCCATGCACCACACACATCCA TATCCACACACCACACACATCCATATCCACACACATCCATATCCACACAC CACACACACCCATATCCACACACCACACACACCCATATCCACACACCACA CACATCCATATCCACACATCCATATCCATGCACCACACACATCCATATCC ACACACATCCATTTCCACGCACATCCATATCCACACACCACACACATCCA TATCCACGCACCACACACATCCATATCCACACACATCCATATCCACGCAC ATCCATATCCACACACATCCATATCCACACACCACACACATCCATATCCA CACACCATACACATCCATATCCACACACATCCATATCCACACACATCCAT ATCCACGCACCACACACATCCATATCCACACACCACACACATCCATATCC ATGCTCCACACACATCTATATCCACACACATCCATATCCACACACATCCA TATCCACACACCACATACATCCATATCCACGCACATCCATATCCACATGC CACACACATCCATATCCACACACCACACACATCCATATCCACACACCACA CACATTCATATCCATACACCACACACACCCATATCCACACACCATACACA TCCATATCCACACACCACACACATCCATATCCACGCACCACACACATCGA TATCCACGTACATCCATATCCACGCACCACACACATCCATATCCATGCAC ATCCATATCCACACACATCCATATCCACTCACCACACACATCCATATCCA CACACATCCATATCCACACACCACACACATCCATATCCACACACCACACA CATCCATGTCCACACACATCCATATCCACACACCACACACATCCATATTC ACACACATCCATATCCGCACACCACACACATCCATATTCACACACATCCA TATCCACGCACATCCATATCTATGCACATCCATATCCACGCACCACACAC ATCCATATCCACGCACCACACACATCCATATCCACGCACCACACACATCC ATATCCATGCACCACACACATCCATATCCACACACCACACACATCCATAT CCACACACCACACACATCCATATCCACGCACCACACACATCCATATCCAC ACACATCCATATCCACACACCACACACATCCATATCCACGCACCACACAC ATCCATATCCACGCACCACACACATCCATATCGACACACCACACACATCC ATATCCACACACCACACACATCCATATCCACGCACCACACACATCCATAT CCACGCACCACACACATCCATATCCACGCACC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0012 a0004c0007t0001g0012	1	48	0.0208	1981	c.-53 others(2000): Show c.-53-13871_-53-13870insCACACATCCATATCCGTACACCACAC ACATCCATATCCACACACCACACACATCCATATCCACACACCACACACAC CCATATCCACACACCACACACATCCATATCCACACACATCCATATCCATG CACCACACACATCCATATCCACACACATCCATTTCCACGCACATCCATAT CCACACACCACACACATCCATATCCATGCACCACACACATCCATATCCAC ACACCACACACATCCATATCCACACACCACACACATCCATATCCACACAC CACACATATCCATATCCACACAGCACACACATCCATATCCACACACATCC ATATCCACACACATCCATATCCACGCACCACACACATCCATATCCACGCA CCACACGCATCCATATCCACACACCACACATATCCATATCCACACAGCAC ACACATCCATATCCACACACATCCATATCCACACACATCCATATCCACGC ACCACACACATCCATATCCATACACCACACACATCTATATCCACACACCA CACACATCCATATCCACACACCACACACACCCATATCCACACACCACACA CATCCATATCCACACACATCCATATCCATGCACCACACACATCCATATCC ACACACATCCATTTCCACGCACATCCATATCCACACACCACACACATCCA TATCCATGCACCACACACATCCATATCCACACACCACACACATCCATATC CACACACATCCATATCCACACACCACACACACCCATATCCACACACCACA CACACCCATATCCACACACCACACACATCCATATCCACACATCCATATCC ATGCACCACACACATCCATATCCACACACATCCATTTCCACGCACATCCA TATCCACACACCACACACATCCATATCCACGCACCACACACATCCATATC CACACACATCCATATCCACGCACATCCATATCCACACACATCCATATCCA CACACCACACACATCCATATCCACACACCATACACATCCATATCCACACA CATCCATATCCACACACATCCATATCCACGCACCACACACATCCATATCC ACACACCACACACATCCATATCCATGCTCCACACACATCTATATCCACAC ACATCCATATCCACACACATCCATATCCACACACCACATACATCCATATC CACGCACATCCATATCCACATGCCACACACATCCATATCCACACACCACA CACATCCATATCCACACACCACACACATTCATATCCATACACCACACACA CCCATATCCACACACCATACACATCCATATCCACACACCACACACATCCA TATCCACGCACCACACACATCGATATCCACGTACATCCATATCCACGCAC CACACACATCCATATCCATGCACATCCATATCCACACACATCCATATCCA CTCACCACACACATCCATATCCACACACATCCATATCCACACACCACACA CATCCATATCCACACACCACACACATCCATGTCCACACACATCCATATCC ACACACCACACACATCCATATTCACACACATCCATATCCGCACACCACAC ACATCCATATTCACACACATCCATATCCACGCACATCCATATCTATGCAC ATCCATATCCACGCACCACACACATCCATATCCACGCACCACACACATCC ATATCCACGCACCACACACATCCATATCCATGCACCACACACATCCATAT CCACACACCACACACATCCATATCCACACACCACACACATCCATATCCAC GCACCACACACATCCATATCCACACACATCCATATCCACACACCACACAC ATCCATATCCACGCACCACACACATCCATATCCACGCACCACACACATCC ATATCGACACACCACACACATCCATATCCACACACCACACACATCCATAT CCACGCACCACACACATCCATATCCACGCACCACACACATCCATATCCAC GCACC		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	1/8						chr18	TogoVar

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