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
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(692): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCC TCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCC CCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTC CCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCC CTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTT TACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCT TCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCC CCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACC TCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0112 a0001c0001t0015g0112	1	181	0.0055	699	c.-37 others(710): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCATCTTTTACCTCCCCCCT CACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACC TCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCC TCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGCA		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3664		chr5	TogoVar
B4GALNT4_chr11_364499_387117	374763	A A	AAGGGAGG others(692): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	160	0.0063	699	c.784 others(714): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(692): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA CGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGA GGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGG GGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG06807.hp1 HG02451.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	9	0.2222	699	c.-70 others(708): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGA AGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAA GGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAG GAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGA GGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGT GGGGAAGGGGAAG		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding					511		chr20	TogoVar
C20orf96_chr20_265863_295750	278938	G G	GGGAGGGG others(692): Show GGGAGGGGCGGAGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGG CGGGACGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGG CGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGAGGGAGGGAGGGCGG GAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGC GGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGACGGAGGGCGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGACGGAGGGCG GGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGG AGGGCGGGACGGAGGGAGGGAGGGCGGGATGGAGGGAGGGAGGGAGGGAC GGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGG ACGGAGGCGGGACGGAGGGAGGGGAGGGAGGGCGGGACGGGAGGGAGGGA CGGAGGGGGGAGGACGGAGGGCGGGAGGGAGGGAGGAGGGAGGGCGGGAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0108 a0001c0005t0001g0108	1	401	0.0025	699	c.465 others(714): Show c.465+233_465+234insGTCCCGCCCTCCCTCCTCCCTCCCTCCCGC CCTCCGTCCTCCCCCCTCCGTCCCTCCCTCCCGTCCCGCCCTCCCTCCCC TCCCTCCGTCCCGCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCC CTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCATCCCGCCCT CCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCC CTCCCTCCGTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCGTCCCGCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCGCCCTCCCTCCG TCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCC TCCCTCCCTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCTC CCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCTCCGTCCCGCCCT CCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCC CTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCC CTCCCTCCTCCGCCCCTCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(692): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0003 a0018c0018t0003	a0018c0018t0003g0027 a0018c0018t0003g0027	1	56	0.0179	699	c.-29 others(710): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding					2856		chr17	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(692): Show AATAAATATATATAAATATATATAAATATAAATATATATAAATAAATATA TATAAATATATATAAATATAAATATATATATAAATATGTAATTCTAAATA TATATGTAAATATATATAAATATAAATATATTTATAAATATATAAATATA TATATATTTATAAATATATAAATATATATATATTTATAAATATATAAATA TATATATATTTATAAATATATAAATATATATAAAAATATATATAAATATA TAAAAAATATAAATATATATAAATATATAAATATATGTAAATATATATAA ATATATATATAAATATATATATAAATATATATATAAATATATATATAAAT ATATATATATAAATATATATAAATATATAACTATATAAATAAATATATAT AAATATATAAATATATAAAAATATATATAAATATATATGTAAATATATAA ATATATATAAATATATATAAATATATATAAGTATATAAATATATATAAAT ATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATAT ATATATAAATATATATAAGTATATAAATATATATAAATATATATTAGTAT ATAAATATATATATAAATATATATAAGTATATATAAATATATATAAATAT ATATAAGTATATATAAATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18957.hp1 NA19003.hp1 others(1): Show NA18943.hp2 NA18957.hp1 NA19003.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0001 a0001c0001t0001g0120	4	122	0.0328	699	c.181 others(718): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTAATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATT TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTATTTATATATATTTATATT TATATATATTTATATATATTTAT		COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29						chr6	TogoVar
COL23A1_chr5_178232618_178595393	178358671	A A	ATGTGTAT others(692): Show ATGTGTATATGTATGTGTGTGTATGTGTGTGTATGCGTATGTGTATGCGT ATGTGTATGTGTATGTATGTCTAATGTATGTGTATTGTGTGTATGTGTAT GTACGTGTGTAGGTCTAATGTGTGTGTATGTGTATGTGTACGTGTGTACG TCTAATGTGTGTGTATGTGTATGTGTGTATGTCTAATGTGTATGTGTATG TATGTGTATGTGTGTGCATGTGTACATGTGTATGTGTGTCTAATGTGTGT ATGTGTGTATGTGTATGTATGTGTGTGTATGTATATGTGTGTATGTATAT GTGTGTATATGTGTGTATGCGTGTGTGTATATGTATGTATGTATGTGTGT GTATGTGTATGTATGTCTAATGTGTGTATTGTGTGTATGTGTATGTGTAC GTGTGTATGTCTAATGTGTGTATGTGTATGTGTATGTGTGTATGTGTATG TGTGTGTATGTGTATGTGTGTATGTGTGTATATGTATGCGTATGTGTATG TGCGTATGCGTATATATGTGTGTGTATGCGTGTATATGTGTGTATGTGTG TATGTATGTCTAGTGTGTGTGTATGTGTGTGTATGTGTACGTGTGTATGT CTAATGTGTATGTGTATGTGTGTGTGTGTATGTGTGTATGCGTGTATGTA TGTGTGTGTCTAGTGTGTGTGTATGTGTACGTGTGTATGTGTCTAATGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0160 a0002c0002t0005g0160	1	96	0.0104	699	c.362 others(718): Show c.362-51753_362-51752insCACATTAGACACATACACACGTACAC ATACACACACACTAGACACACACATACATACACGCATACACACATACACA CACACACATACACATACACATTAGACATACACACGTACACATACACACAC ATACACACACACTAGACATACATACACACATACACACATATACACGCATA CACACACATATATACGCATACGCACATACACATACGCATACATATACACA CATACACACATACACATACACACACATACACATACACACATACACATACA CATACACACATTAGACATACACACGTACACATACACATACACACAATACA CACATTAGACATACATACACATACACACACATACATACATACATATACAC ACACGCATACACACATATACACACATATACATACACACATATACATACAC ACACATACATACACATACACACATACACACATTAGACACACATACACATG TACACATGCACACACATACACATACATACACATACACATTAGACATACAC ACATACACATACACACACATTAGACGTACACACGTACACATACACATACA CACACATTAGACCTACACACGTACATACACATACACACAATACACATACA TTAGACATACATACACATACACATACGCATACACATACGCATACACACAC ATACACACACATACATATACACA		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
CPNE4_chr3_131528569_132040014	131978243	T T	TTATATAT others(692): Show TTATATATTTTATATATATTTATATAAATATATATATTTATATATATTTA TATAAATATATATATTTATATATATTTATATATATTTATATATATTTTAT ATATATTTATATATATATTTATATATATTTATATTTATATATATATTTTT ATATATATTTATATATATTTATATTTATATATATATTTTTATATATTTAT ATATATATTTTTATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATTTATATATTTTTATATATTTATATATATATTTTTATAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATATATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATATTTATATATATATATTTATATATATTTATAT ATTTATATATATTTATATATATATTTATATATATTTATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATTT TTATATATATATTTATATATATTTTTATATATATATATTTATATATATTA TTTATATATATATTTATATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATTTATATATATTTATATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	90	0.0111	699	c.-2+ others(716): Show c.-2+56323_-2+56324insTAAATATATAAATATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATATAAATATATATATAAATAATATATATAAATATATATATATAAAA ATATATATAAATATATATATAAAAATATATATAAATATATATATAAATAT ATATATAAATATATATATAAATATATATAAATATATAAATATATATAAAT ATATATATAAATATATATAAATATATAAATATATATAAATATATATATAT AAATATATATATAAATATATATATAAATATATATATAAATATATATAAAT ATATAAATATATATAAATATATATATATAAATATATATATAAATATATAT ATAAATATATATATAAATATATATATAAAAATATATATATAAATATATAA AAATATATAAATATATAAATATATATATAAATATATATATAAATATATAT ATAAATATATAAAAATATATATATAAATATATAAAAATATATATATAAAT ATAAATATATATAAATATATATAAAAATATATATATAAATATAAATATAT ATAAATATATATATAAATATATATAAAATATATATAAATATATATAAATA TATATAAATATATATATTTATATAAATATATATAAATATATATATTTATA TAAATATATATAAAATATATA		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
CRTC3_chr15_90524923_90650345	90647358	A A	ACCCCTCC others(692): Show ACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACC TCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACAT CCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCT CCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCC CTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACAC CCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCC TCCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTC CTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCC TCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTC CTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCAC CCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCG TTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCT CCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCC ACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	179	0.0056	699	c.52 others(710): Show c.5218_*5219insCCCCTCCTCAACCTCCACACCACACCCCCTCCAC TACCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCT CCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTC CCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCT TCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACC CCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCA CACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCTTCC TCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCT TTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCC ACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCAC ACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACAC TCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTC CTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCA CACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCC CCCTCCTCACCCCGT		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					2014		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647358	A A	ACCCCTCC others(692): Show ACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACC TCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACAT CCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCT CCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCC CTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCA CACCCCTCCTCCTCTACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCC TCCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTC CTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCC TCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTC CTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCAC CCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCG TTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCT CCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCC ACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03486.hp2 HG02717.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0121 a0001c0001t0009g0035 a0001c0001t0001g0121 a0001c0001t0009g0035	2	180	0.0111	699	c.52 others(710): Show c.5218_*5219insCCCCTCCTCAACCTCCACACCACACCCCCTCCAC TACCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCT CCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTC CCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCT TCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACC CCTCCTCCTCCTCCACACCCCTCCTCCTCTACACCCCTCCTCCTCCTCCA CACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCTTCC TCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCT TTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCC ACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCAC ACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACAC TCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTC CTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCA CACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCC CCCTCCTCACCCCGT		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					2014		chr15	TogoVar
CTDP1_chr18_79674803_79759503	79685018	A A	ACCTCGTG others(692): Show ACCTCGTGGTCTCTAGTCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTGT GAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCG GTTTCTCTGCGGTGCTCCTTACAGGGTGTGAGGTCCTGGTGAGGATCAGT GCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACA GGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACT CCCGGTTTCTCTGCGGTGCTCCTTACAGGGTGTGAGGTCCTGGTGAGGAT CAGTGCAGGGACCTCGTGGTCTCTACTCCCAGTTTCTCTGCGGTGCCCCT TACAGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTC TCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGAGTGTGAGGTCCTGGT GAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGT GCCCCTTACGGAGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGT GGTCTCTAGTCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCC TGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTG CGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19043.hp2 HG02809.hp1 NA19043.hp2	a0001 a0001	a0001c0041 a0001c0042 a0001c0041 a0001c0042	a0001c0041t0013 a0001c0042t0001 a0001c0041t0013 a0001c0042t0001	a0001c0041t0013g0100 a0001c0042t0001g0099 a0001c0041t0013g0100 a0001c0042t0001g0099	2	373	0.0054	699	c.314 others(716): Show c.314+4771_314+4772insGTCCCGGTTTCTCTGCGGTGCCCCTTAC AGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCT ACTCCCGGTTTCTCTGCGGTGCTCCTTACAGGGTGTGAGGTCCTGGTGAG GATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCC CCTTACAGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGT CTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACAGGGTGTGAGGTCCTGG TGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCAGTTTCTCTGCGG TGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCT CGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGAGTGTGAGG TCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCT CTGCGGTGCCCCTTACGGAGTGTGAGGTCCTGGTGAGGATCAGTGCAGGG ACCTCGTGGTCTCTAGTCCCGGTTTCTCTGCGGTGCCCCTTACAGGGTGT GAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGT TTCTCTGCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGAGGACGGT GCAGATGCCTCGTGGTCTCTA		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(692): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACTACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTGTAACCATCACCACCACCACTGCTATAACCACCACC ACCACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCAC CACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCA CCACCACTACCACTACTGTAACCATCACCACCATCACCACTATAACCACC ACTACCACCACCACCACTATAACCACCACCACCACCACTATAACCACCAT CATCATCACCACCACTACCACTACTGTAACCATCACCACCACCACTGCTA TAACCACCACCACCACCACTATAACCATCACCACCATCACCACTATAACC ACCACTACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACCACTACCACTACTGTAACCATCACCACCACCACTG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	45	0.0222	699	c.724 others(718): Show c.724-10675_724-10674insCAGTGGTGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGGTGATGGTTACA GTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGT GGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGA TGGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTG GTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGAT GGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGG TGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGT GATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGG TTATAGTGGTGGTAGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTT ATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGC AGTGGTGGTGGTGATGGTTACAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(692): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTATAACCATCACCACCATCACTGCTATAACCACCACC ACCACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCAC CACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCA CCACCACTACCACTACTATAACCATCACCACCATCACTGCTATAACCACC ACCACCACCACTATAACCATCACCACCATCACCACTATAACCACCACTAC CACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCA TCACCACCACTACCACTACTGTAACCATCACCACCATCACCACTATAACC ACCACTACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACCACTACCACTACTGTAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	45	0.0222	699	c.724 others(718): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTG GTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGT GGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGA TGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTG GTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGAT GGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGG TGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGT GATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGG TTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTT ATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTGATGGTTACAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DOCK8_chr9_209865_470255	400985	T T	TCCTTCAC others(692): Show TCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCAC CTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCATCACCAC CACCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCCACCACCA CCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACC ACCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCACCACCTC CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0004 a0001c0071t0004	a0001c0071t0004g0239 a0001c0071t0004g0239	1	245	0.0041	699	c.323 others(718): Show c.3234+1729_3234+1730insTCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCAT CACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCA CCATCACCACAACATCCACCACCACCACCTCCTCCACCATCACCACCTCC TTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCACCTCCACCATCACCACCT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315510	T T	TACCACCA others(692): Show TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TCCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCAC CACCATCCCCATACACACCCCCACCACCATCCTCACCACCATCCCCATAC ACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCACCACCACCATCACCACC ATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACA CCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCACCACCAT CCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGC CCCTACCACCACCATCACCACCATCCCCATACACACCCCCACCACCATCC TCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCC CATACACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	233	0.0043	699	c.259 others(718): Show c.259+22506_259+22507insGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTGGGGGTGT GGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTG GTGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
FRYL_chr4_48492357_48785279	48659844	A A	AGGAGAAG others(692): Show AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0236 a0001c0003t0001g0236	1	277	0.0036	699	c.-81 others(718): Show c.-81+24828_-81+24829insCTCTTCTCCTTCTCCCTCTTCTCCTT CTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCC TCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTC TCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTT CTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCC TCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTC TCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTT CTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCC TCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTC TCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTT CTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCC TCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTC TCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTT CTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCC TCTTCTCCTTCTCCCTCTTCTCC		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(692): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0232 a0004c0006t0002g0232	1	207	0.0048	699	c.41- others(714): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAA		HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1						chr14	TogoVar
HPCAL1_chr2_10297904_10432604	10399376	C C	CCACCACC others(692): Show CCACCACCACCACCATCACCATCATCACCACCACCACCACCATCACCACC ACCATCATCACCACCATCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCATCATCACCACCATCACCA CCGCCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACC ACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCACCACCATCACCATCACCACCATCACCACCACCATCA CCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCATCACCATCACCACCACCACCAC CACCATCACCACCACCACCACCATCACCACCACCACCACCATCACCATCA CCATCACCATCATCACCACCATCACCACCGCCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCGCCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCATCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCGCCACCACCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	300	0.0033	699	c.-25 others(716): Show c.-25+2470_-25+2471insTCACCATCATCACCACCACCACCACCAT CACCACCACCATCATCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCATCACCACCACCACCACCACCATCATCACCACC ATCACCACCGCCACCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCA CCACCATCACCACCACCACCACCACCATCACCATCACCACCATCACCACC ACCATCACCACCACCACCATCACCACCGCCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCATC ACCATCACCATCACCATCATCACCACCATCACCACCGCCACCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCGCCACCACCACCACCA TCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCATC ACCACCATCACCACCACCATCACCACCACCACCATCACCACCGCCACCAC CACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCATCACCACCACCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399426	A A	ACCACCAC others(692): Show ACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCATCACCATCACCATCACCGCCA CCACCACCATCACCACCACCATCACCACCACCACCATCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCGCCACCACCACCACCATCACCG CCACCACCATCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCATCACCA CCGCCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCATCACCACCACCATCACCACCATCACCACCACCATCAC CACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATC ATCACCACCATCATCACCACCATCACCACCACCATCACCACCACCATCAT CACCACCATCACCACCACCACCATCGCCGCCACCACCACCACCATCGCCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0292 a0001c0001t0007g0292	1	285	0.0035	699	c.-25 others(716): Show c.-25+2515_-25+2516insTCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCATCACCATCA CCATCACCGCCACCACCACCATCACCACCACCATCACCACCACCACCATC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAT CACCACCACCACCACCATCACCACCACCACCACCACCACCGCCACCACCA CCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCA CCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCATCACC ATCATCACCACCACCACCACCACCATCACCACCACCATCACCACCATCAC CACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCATCACCACCACCATCATCACCACCATC ACCACCACCATCATCACCACCATCATCACCACCATCACCACCACCATCAC CACCACCATCATCACCACCATCACCACCACCACCATCGCCGCCACCACCA CCACCATCGCCGCCACCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(692): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCC CACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCC CCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	5	0.2000	699	c.-41 others(714): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCC CCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGC TGCCCCCACAGCCGCCCCC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(692): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCC CACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCC CCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCC CCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02738.hp1 HG03239.hp2 others(1): Show HG00323.hp1 HG02738.hp1 HG03239.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0114 a0002c0002t0001g0187 a0002c0004t0001g0049 others(1): Show a0002c0002t0001g0114 a0002c0002t0001g0187 a0002c0004t0001g0049 a0002c0004t0001g0157	4	8	0.5000	699	c.-41 others(714): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCC CCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCC CCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGC TGCCCCCACAGCCGCCCCC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(692): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02027.hp1 HG02273.hp1 HG01934.hp1 HG02027.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0070 a0001c0001t0003g0010 a0001c0001t0002g0070 a0001c0001t0003g0010	3	79	0.0380	699	c.-27 others(710): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(692): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01516.hp1 others(1): Show HG00140.hp2 HG00741.hp1 HG01516.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	80	0.0500	699	c.-27 others(710): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(692): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	77	0.0130	699	c.-27 others(710): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(692): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	77	0.0130	699	c.-27 others(710): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(692): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 NA18957.hp1 HG02300.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	78	0.0256	699	c.-27 others(710): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(692): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	77	0.0130	699	c.-27 others(710): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(692): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA18949.hp1 NA19012.hp1 HG01255.hp1 NA18949.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	79	0.0380	699	c.-27 others(710): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(692): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	77	0.0130	699	c.-27 others(710): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
LGR6_chr1_202188799_202324761	202205097	T T	TCCACACA others(692): Show TCCACACACATACCTAACACAAACCTCCTTCAAACGCACACACCCCCTTC AAACACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACA CCTAGCACACACTCCTCCACACACACACACACCTAACACACACCTCCTTC AAACACACACACACCTCCAAACACACATACACCTCCAAACACACACACAC CTCCAAACACACATACACCTCCAAACACACACACCTAACACACACCTCCT TCAAACACACACACCTCCAAACACACACACACCTAACACACACACCCCTC CTTCAAACACACACACCTCCAAACACACACACACACCTAACACACACCTC CTCCAAACACACACACACCTCCAAACACACACACACCTAACACACACCTC CTCCAAACACACACACCTCCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACACCTAACACACACCTCCTTCAAACACACACACACCTC CAAAGACACACACACACCTATCACACCTTCAAACACACACACACCTAACA CACACCTCCTCCAAACACACACACACCTCCAAACACACACCTAACACACA CACACCTATCACACACCTCCTTCAAACACACACACCTAACACACCCGTCC TTCAAACACACACACACCACACACACATCTAACACCTCCTTCAGACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG03041.hp2 others(2): Show HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03579.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0024 a0004c0003 a0002c0002 a0003c0024 a0004c0003	a0002c0002t0003 a0003c0024t0004 a0004c0003t0003 a0002c0002t0003 a0003c0024t0004 a0004c0003t0003	a0002c0002t0003g0024 a0002c0002t0003g0093 a0003c0024t0004g0021 others(2): Show a0002c0002t0003g0024 a0002c0002t0003g0093 a0003c0024t0004g0021 a0004c0003t0003g0022 a0004c0003t0003g0023	5	256	0.0195	699	c.212 others(718): Show c.212+10896_212+10897insCCACACACATACCTAACACAAACCTC CTTCAAACGCACACACCCCCTTCAAACACACACACCTCCTTCAAACACAC ACACCTCCAAACACACACACACACCTAGCACACACTCCTCCACACACACA CACACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACA TACACCTCCAAACACACACACACCTCCAAACACACATACACCTCCAAACA CACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACACCCCTCCTTCAAACACACACACCTCCAAACACA CACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTCCAAACACACACACCTCCAAACACA CACACACCTCCAAACACACACACACCTAACACACACACCTAACACACACC TCCTTCAAACACACACACACCTCCAAAGACACACACACACCTATCACACC TTCAAACACACACACACCTAACACACACCTCCTCCAAACACACACACACC TCCAAACACACACCTAACACACACACACCTATCACACACCTCCTTCAAAC ACACACACCTAACACACCCGTCCTTCAAACACACACACACCACACACACA TCTAACACCTCCTTCAGACACAC		LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17						chr1	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(692): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACAC ACACCTCCTTCAAACACACACACACACCTCCACACACACACACACCTAAC ACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACAC AGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAACACAC ACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACACCTC CTTCAAACACACACCTCCACACACACACACCTAACACACACCTCCTTCAA ACACACACACCTCCAAACACACACACACCTAACACACACACCTTCAAACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18612.hp1 NA18984.hp2 others(2): Show HG02027.hp1 NA18612.hp1 NA18984.hp2 NA18998.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0158 a0002c0002t0002g0129 a0002c0002t0002g0141	5	14	0.3571	699	c.212 others(718): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACATCTAACACACACCTCCTTCAAACACACACACACACCTCCACACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACA CACACACCTAACACAGCTTCTTCAAACACACACACACCTCCAAACACACA CACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACACACAC CTAACACACACCTCCTTCAAACACACACCTCCACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACA CACACCTTCAAACACACACACAC		LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104824168	T T	TATATATT others(692): Show TATATATTATATATATAATATATATATTATATATTATATATTATATATAT AATATATATATTATATATTATATATAATATATTATATATTATATATATAA TATATTATATATTATATATATAATATATAATATATTATATATATATTATA TAATATATTATATATTATATATATAATATATTATATATTATATATAATTA TATATATTTTATATATTATATTATATATTATATATTATATATTATATATA TTATATATTATATATTATATATTATATATTATATGTATTATATATTATAT ATACAATTATATATATTATATATATTATATATTATATAATATATTATATA TATAATATATATTATATATTATATATTATATAATATATTATATATATAAT ATATTATATATTATATATTATATATTATATATAATATATATTATATATTA TATTATATAATATATTATATATATAATATATATTATATATTATATATTAT ATATATATTATATATATAATATATATTATATATAATATATATAATTGTAT ATATAATATATAATATATATTATATATAATATATAATATATAATATATAA TATATAATATATATAATATATAATATATATAATATATAATATATAATATA TAATATATAAAATATATATATAAAATATATTATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	83	0.0120	699	c.683 others(718): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATAATATATTATATATTATATATATAAT ATATTATATATTATATATATAATATATAATATATTATATATATATTATAT AATATATTATATATTATATATATAATATATTATATATTATATATAATTAT ATATATTTTATATATTATATTATATATTATATATTATATATTATATATAT TATATATTATATATTATATATTATATATTATATGTATTATATATTATATA TACAATTATATATATTATATATATTATATATTATATAATATATTATATAT ATAATATATATTATATATTATATATTATATAATATATTATATATATAATA TATTATATATTATATATTATATATTATATATAATATATATTATATATTAT ATTATATAATATATTATATATATAATATATATTATATATTATATATTATA TATATATTATATATATAATATATATTATATATAATATATATAATTGTATA TATAATATATAATATATATTATATATAATATATAATATATAATATATAAT ATATAATATATATAATATATAATATATATAATATATAATATATAATATAT AATATATAAAATATATATATAAAATATATTATATATTATATATTATATAA TATATTATATATATAATATATAT		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(692): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATAGAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATGATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATTATATATAATTATAT TCTATATAGAATATAATTATATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	699	c.-32 others(710): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATATAA TTATATTCTATATAGAATATAATTATATATAATTATATTCTATATAGAAT ATAATTATATTATATATAATTATATATAGAATATAATTATATATTATAAC ATATTATATATAATTATATTATAGATTATGATCTATAATATAATTATATA TCATATGTTATAATATAATTATATATAATATATTATATATTATAATACTA TTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAAT GTATTATAATATATAATATAATTATATATGATATAATATATAATATAATT ATATATGATATAATATATAATATAATTATATATGATATAATATATAATAT AATTATATATGATATAATATATAATATAATTATATATGATATAATATATA ATATAATTATATATTATATAATATATAATATAATTATATATTATATCATA TATAATATAATTATATATTATATAATATATTTAATATAATTATATATAAT ATAATTATATTATATAATTATATTATAATTATATAATATAGAATATAATT ATATATTATATAATTATATTCTATATAGAATATAATTATATATTATATAA TTATATTCTATAGAATATAATTATATATTATATAATTATATTCTATATAG AATATAATTATATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(692): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATAGAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATTATATATAATTATAT TCTATATAGAATATAATTATATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	699	c.-32 others(710): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATATAA TTATATTCTATATAGAATATAATTATATATAATTATATTCTATATAGAAT ATAATTATATTATATATAATTATATATAGAATATAATTATATATTATAAC ATATTATATATAATTATATTATAGATTATGATCTATAATATAATTATATA TAATATGTTATAATATAATTATATATAATATATTATATATTATAATACTA TTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAAT GTATTATAATATATAATATAATTATATATGATATAATATATAATATAATT ATATATGATATAATATATAATATAATTATATATGATATAATATATAATAT AATTATATATGATATAATATATAATATAATTATATATGATATAATATATA ATATAATTATATATTATATAATATATAATATAATTATATATTATATCATA TATAATATAATTATATATTATATAATATATTTAATATAATTATATATAAT ATAATTATATTATATAATTATATTATAATTATATAATATAGAATATAATT ATATATTATATAATTATATTCTATATAGAATATAATTATATATTATATAA TTATATTCTATAGAATATAATTATATATTATATAATTATATTCTATATAG AATATAATTATATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3129		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(692): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGA GGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAG GGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGG AGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGG GAGTGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGA GGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	8	0.1250	699	c.250 others(714): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCA CCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGC CCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCC CTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCTCCTTCCCCCCT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(692): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGAGGGGAGAAGGGGAGGGGCAGGG GGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGG GAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGG GAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGG GGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGGAGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAG GGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGG GATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGA GGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0227	1	8	0.1250	699	c.250 others(714): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCC CCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCC CCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTC CCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCTTT CCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT CCTTCCCCCCTTCCCCCCT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCCTCTCT others(692): Show TCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCT CCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0123 a0002c0006t0001g0123	1	4	0.2500	699	c.114 others(718): Show c.1142-1811_1142-1810insCTCTCTTCCCTCCCCTCCCCTCTCCC CTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCC CTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCC TCCCCTCCCATCCCCTCCTCCCC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(692): Show GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0161 a0002c0006t0001g0161	1	6	0.1667	699	c.-8+ others(712): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAG		MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5						chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(692): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAGAT AAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTA TATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATA TATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATA TATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAAT ATATAAATATAAATATATAAATATATATATATAATTATATATATATATTT AGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCT GGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATATAT AAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03017.hp1 NA19060.hp1 others(1): Show HG02132.hp1 HG03017.hp1 NA19060.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0012g0010 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0012g0010 a0001c0001t0012g0015	4	11	0.3636	699	c.293 others(718): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATT AACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATA AAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTAT ATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATA AAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAATAT AAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTCTG GTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTT TTATATATATATTTATATATTTATATAAATATAAATATATAAATATATAT AATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATATA TATTTAGGTCCTCTGGTTTTGGT		MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
NACA_chr12_56707427_56730299	56718132	G G	GGAGTTGC others(692): Show GGAGTTGCAGCTGGGGGCATGGGGGCCCCTTTGGGGGATGGGGTAGCTGG GCCTCCTTTTGGGGAGGGAGGAGTCGCAGCTGGGGGAGTGGGGGCCCCCT TGAGGGATGGGGTAGCTGGACCTCCTTTTGGGGAGGGAAGAGTTGCAGCT GGGGTTGTGGGGGCCCCTTTGGGGAGTGGGGTAGCTGCTGGACTTCCTTT GGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGATGCCCCTTTGGGGAATG GGGTAGCTGCTGGACTTCCTTTGGGGGAGGGAGGAGTCACAGCTGGGGGT GTGGGGGCCCCTTTGGGGGATGGAGTAGCTGGACCTCCTTTGGGGGAGGG AGGAGTTGCAGCTGGGGGTGTGGGGGCCCCTTTGGGGGATGGAGTAGCTG GACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGGAGTGGGGGCCCCC TTGAGGGATGGGGTAGCTGGACCTCCTTTTGGGGAGGGAAGAGTTGCAGC TGGGGTTGTGGGGGCCCCTTTGGGGAGTGGGGTAGCTGCTGGACTTCCTT TGGGGGAGGGAGGAGTTGCAGCTGGGGGCATGGGGGCCCCTTTGGGGGAT GGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTCGCAGCTGGGGGAGT GGGGGCCCCCTTGAGGGATGGGGTAGCTGGACCTCCTTTTGGGGAGGGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19011.hp2 NA19011.hp2	a0033 a0033	a0033c0023 a0033c0023	a0033c0023t0001 a0033c0023t0001	a0033c0023t0001g0066 a0033c0023t0001g0066	1	364	0.0027	699	c.339 others(708): Show c.3397_3398insTTCCCTCCCCAAAAGGAGGTCCAGCTACCCCATCCC TCAAGGGGGCCCCCACTCCCCCAGCTGCGACTCCTCCCTCCCCAAAAGGA GGCCCAGCTACCCCATCCCCCAAAGGGGCCCCCATGCCCCCAGCTGCAAC TCCTCCCTCCCCCAAAGGAAGTCCAGCAGCTACCCCACTCCCCAAAGGGG CCCCCACAACCCCAGCTGCAACTCTTCCCTCCCCAAAAGGAGGTCCAGCT ACCCCATCCCTCAAGGGGGCCCCCACTCCCCCAGCTGCAACTCCTCCCTC CCCAAAAGGAGGTCCAGCTACTCCATCCCCCAAAGGGGCCCCCACACCCC CAGCTGCAACTCCTCCCTCCCCCAAAGGAGGTCCAGCTACTCCATCCCCC AAAGGGGCCCCCACACCCCCAGCTGTGACTCCTCCCTCCCCCAAAGGAAG TCCAGCAGCTACCCCATTCCCCAAAGGGGCATCCACACCCCCAGCTGCAA CTCCTCCCTCCCCCAAAGGAAGTCCAGCAGCTACCCCACTCCCCAAAGGG GCCCCCACAACCCCAGCTGCAACTCTTCCCTCCCCAAAAGGAGGTCCAGC TACCCCATCCCTCAAGGGGGCCCCCACTCCCCCAGCTGCGACTCCTCCCT CCCCAAAAGGAGGCCCAGCTACCCCATCCCCCAAAGGGGCCCCCATGCCC CCAGCTGCAACTC	p.Thr others(714): Show p.Thr1132_Pro1133insLeuProSerProLysGlyGlyProAlaThr ProSerLeuLysGlyAlaProThrProProAlaAlaThrProProSerPr oLysGlyGlyProAlaThrProSerProLysGlyAlaProMetProProA laAlaThrProProSerProLysGlySerProAlaAlaThrProLeuPro LysGlyAlaProThrThrProAlaAlaThrLeuProSerProLysGlyGl yProAlaThrProSerLeuLysGlyAlaProThrProProAlaAlaThrP roProSerProLysGlyGlyProAlaThrProSerProLysGlyAlaPro ThrProProAlaAlaThrProProSerProLysGlyGlyProAlaThrPr oSerProLysGlyAlaProThrProProAlaValThrProProSerProL ysGlySerProAlaAlaThrProPheProLysGlyAlaSerThrProPro AlaAlaThrProProSerProLysGlySerProAlaAlaThrProLeuPr oLysGlyAlaProThrThrProAlaAlaThrLeuProSerProLysGlyG lyProAlaThrProSerLeuLysGlyAlaProThrProProAlaAlaThr ProProSerProLysGlyGlyProAlaThrProSerProLysGlyAlaPr oMetProProAlaAlaThr	NACA	ENSG00000196531.14	transcript	ENST00000454682.6	protein_coding	3/9	3436/6387	3397/6237	1133/2078			chr12	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(692): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCC TCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCC CCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTC CCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCC CTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTT TACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCT TCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCC CCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACC TCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0293 a0002c0003t0001g0293	1	248	0.0040	699	c.35 others(710): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCATCTTTTACCTCCCCCCT CACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACC TCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCC TCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGCA		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3076		chr5	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(692): Show GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	5	0.2000	699	c.15 others(710): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAG		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding					397		chr16	TogoVar
PJA2_chr5_109329722_109414974	109354123	G G	GATATCTA others(692): Show GATATCTAGAGATATCTATAGATTAGATATCTATATCAAGAGATGTCTAT AGATTAGATATCTATATCTAGAGATGTCTATAGATTAGATATCTATGATA TCTAGAGATGTCTATAGAGTAGATATCTATGATGTCTAGAGATTTCTATA GATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATCTATGA TGTCTAGAGATATCTATAGATTAGATATCTATGATGTCTAGAGATATCTA TAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTAT GATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGATATC TATAGATTAGATGTCTATGATATCTAGAGATATCTATAGATTAGATGTCT ATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGATA TCTATAGATTAGATGTCTATGATATCTAGAGATATCTATAGATTAGATGT CTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGA TATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCTATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATATCAAGAGATGTCTATAGATTAGATATCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0103 a0003c0003t0002g0103	1	331	0.0030	699	c.176 others(718): Show c.1764+1791_1764+1792insAGATATCTAATCTATAGACATCTCTT GATATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAAT CTATAGATATCTCTAGATATAGATATCTAATCTATAGATATCTCTAGATA TCATAGATATCTAATCTATAGATATCTCTAGATATCATAGACATCTAATC TATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTCTAGA TATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGACATCTAA TCTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTCTA GATATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGACATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGATATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATAT CTAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATC TCTAGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGAT ATCTACTCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGACA TCTCTAGATATAGATATCTAATCTATAGACATCTCTTGATATAGATATCT AATCTATAGATATCTCTAGATAT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9						chr5	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(692): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACAC ATACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAG GCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGTGCACCACACTTACTAACAGTCGTCT TCACAGGCGACCGTGCACCACACATACTAACAGTCGCCTTCACGGGCGAC CGTGCACCACACATACTAACAGTCGTCTTCACGGGCGACCGTGCACCACA CTTACTAACAGTCGTCTTCACGGGCGACCGTGCACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	71	0.0141	699	c.-39 others(710): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGACGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding					3644		chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934382	A A	ATATATTC others(692): Show ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATTCCATATATATATATATTCCATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATTCCAT ATATATATATTCCATATATATATTCCATATATATATTCCATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATTCCATATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATCTATTCCATATATATATCTATTCCATATATATATCT ATTCCATATATATATATATTCCATATATATATCTATTCCATATATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	322	0.0031	699	c.115 others(716): Show c.115-2612_115-2611insGATATATATATGGAATAGATATATATAT GGAATATATATATATATGGAATAGATATATATATGGAATAGATATATATA TGGAATAGATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATGGAATATATATATATATG GAATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATA		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(692): Show CATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	82	0.0122	699	c.12+ others(714): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17						chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(692): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAAATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	82	0.0122	699	c.12+ others(714): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17						chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(692): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	82	0.0122	699	c.12+ others(714): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAATATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATAAAATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17						chr6	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(692): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0312 a0001c0001t0005g0312	1	3	0.3333	699	c.597 others(716): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCT TCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCC CTCCCTCCTTCCTTTCCTCTC		STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10						chr13	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(692): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0189 a0001c0001t0009g0189	1	9	0.1111	699	c.75 others(710): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATTATATAT GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATAT		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					4122		chr10	TogoVar

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