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
HRNR_chr1_152207076_152229193	152215700	G G	GGCTGGAA others(701): Show GGCTGGAAGACCACCCTGAGCCAGACCCATATGGGCTGTAGCTGGAAGAC TGCCCAGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCC AGATCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACC CATGCTGACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTCGTTCA CCCCTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGA GTGACCTGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCATGAGC TAGACTCGTGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCCATGT CGGCCACTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGTAGCT GGAAGAGTGCCCGGAACCGGACCCATGTCGGCCGCGACTAGGAGACTGGC CAGATCCAGAGCCCTGTTGGCCATAGCTAGAAGACTGACTTGAGCCAGAG CCATGCTGACCGTGGCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCC ACAGCTCGATGACTGTCCTGATGCAGAACCATGTTGCCCATGGGTAGAGG AATGACCTGAGCTAGATCCATGTTGACCGTAGCCAGAGGACAGTCCTGAG CGAGACTCTCGGTGACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATA TGGGCCACA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0011 a0001c0094t0011	a0001c0094t0011g0098 a0001c0094t0011g0098	1	293	0.0034	708	c.592 others(717): Show c.5928_5929insTGTGGCCCATATGAGTCTGGCTCCGGTCACTCTTCT GGCTTAGGTCACCGAGAGTCTCGCTCAGGACTGTCCTCTGGCTACGGTCA ACATGGATCTAGCTCAGGTCATTCCTCTACCCATGGGCAACATGGTTCTG CATCAGGACAGTCATCGAGCTGTGGCCAACATGGAGCTAGCTCAGGTCAG TCTTCCAGCCACGGTCAGCATGGCTCTGGCTCAAGTCAGTCTTCTAGCTA TGGCCAACAGGGCTCTGGATCTGGCCAGTCTCCTAGTCGCGGCCGACATG GGTCCGGTTCCGGGCACTCTTCCAGCTACGGCCAACATGGGTCTGGCTCC GGTTGGTCTTCCAGCAGTGGCCGACATGGGTCTGGCTCAGGTCAGTCTTC TGGATTTGGTCACCACGAGTCTAGCTCATGGCAGTCCTCTGGTTACACTC AGCATGGATCTGGCTCAGGTCACTCCTCCAGCTACGAACAACACGGCTCT AGGTCAGGACAGTCATCTAGGGGTGAACGACACGGATCTAGCTCAGGTTC ATCTTCCAGCTATGGTCAGCATGGGTCTGGCTCCCGTCAGTCTTTGGGCC ACGGCCAACATGGGTCTGGATCTGGCCAGTCTCCTAGCCCTAGCCGTGGC CGACATGGGTCTGGTTCTGGGCAGTCTTCCAGCTACAGCCCATATGGGTC TGGCTCAGGGTGGTCTTCCAGC	p.Ser others(723): Show p.Ser1976_Arg1977insCysGlyProTyrGluSerGlySerGlyHis SerSerGlyLeuGlyHisArgGluSerArgSerGlyLeuSerSerGlyTy rGlyGlnHisGlySerSerSerGlyHisSerSerThrHisGlyGlnHisG lySerAlaSerGlyGlnSerSerSerCysGlyGlnHisGlyAlaSerSer GlyGlnSerSerSerHisGlyGlnHisGlySerGlySerSerGlnSerSe rSerTyrGlyGlnGlnGlySerGlySerGlyGlnSerProSerArgGlyA rgHisGlySerGlySerGlyHisSerSerSerTyrGlyGlnHisGlySer GlySerGlyTrpSerSerSerSerGlyArgHisGlySerGlySerGlyGl nSerSerGlyPheGlyHisHisGluSerSerSerTrpGlnSerSerGlyT yrThrGlnHisGlySerGlySerGlyHisSerSerSerTyrGluGlnHis GlySerArgSerGlyGlnSerSerArgGlyGluArgHisGlySerSerSe rGlySerSerSerSerTyrGlyGlnHisGlySerGlySerArgGlnSerL euGlyHisGlyGlnHisGlySerGlySerGlyGlnSerProSerProSer ArgGlyArgHisGlySerGlySerGlyGlnSerSerSerTyrSerProTy rGlySerGlySerGlyTrpSerSerSer	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6004/9629	5928/8553	1976/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152215736	C C	CGTAGCTG others(701): Show CGTAGCTGGAAGACTGCCCAGAACCAGACCCATGTCGGCCACGGCTAGGG CTAGGAGACTGGCCAGATCCAGACCCATGTTGGCCGTGGCCCAAAGACTG ACGGGAGCCAGACCCATGCTGACCATAGCTGGAAGATGAACCTGAGCTAG ATCCGTGTTGTTCACCCCTAGATGACTGTCCTGACCTAGAGCCGTGTTGT TCGTAGCTGGAGGAGTGACCTGAGCCAGATCCATGCTGAGTGTAACCAGA GGACTGCCATGAGCTAGACTCATGGTGACCAAATCCAGAAGACTGACCTG AGCCAGACCCATGTCGGCCACTGCTGGAAGACCAACCGGAGCCAGACCCA TGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCGGACCCATGTCGGCCGCG ACTAGGAGACTGGCCAGATCCAGAGCCCTGTTGGCCATAGCTAGAAGACT GACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGACCTGAGCTA GCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGCAGAACCATGTTG CCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTTGACCGTAGCCAG AGGACAGTCCTGAGCGAGACTCTCGGTGACCTAAGCCAGAAGAGTGACCG GAGCCAGACTCATATGGGCCACAGCTGGAAGACCACCCTGAGCCAGACCC ATATGGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	158	0.0063	708	c.589 others(717): Show c.5892_5893insAGCCCATATGGGTCTGGCTCAGGGTGGTCTTCCAGC TGTGGCCCATATGAGTCTGGCTCCGGTCACTCTTCTGGCTTAGGTCACCG AGAGTCTCGCTCAGGACTGTCCTCTGGCTACGGTCAACATGGATCTAGCT CAGGTCATTCCTCTACCCATGGGCAACATGGTTCTGCATCAGGACAGTCA TCGAGCTGTGGCCAACATGGAGCTAGCTCAGGTCAGTCTTCCAGCCACGG TCAGCATGGCTCTGGCTCAAGTCAGTCTTCTAGCTATGGCCAACAGGGCT CTGGATCTGGCCAGTCTCCTAGTCGCGGCCGACATGGGTCCGGTTCCGGG CACTCTTCCAGCTACGGCCAACATGGGTCTGGCTCCGGTTGGTCTTCCAG CAGTGGCCGACATGGGTCTGGCTCAGGTCAGTCTTCTGGATTTGGTCACC ATGAGTCTAGCTCATGGCAGTCCTCTGGTTACACTCAGCATGGATCTGGC TCAGGTCACTCCTCCAGCTACGAACAACACGGCTCTAGGTCAGGACAGTC ATCTAGGGGTGAACAACACGGATCTAGCTCAGGTTCATCTTCCAGCTATG GTCAGCATGGGTCTGGCTCCCGTCAGTCTTTGGGCCACGGCCAACATGGG TCTGGATCTGGCCAGTCTCCTAGCCCTAGCCGTGGCCGACATGGGTCTGG TTCTGGGCAGTCTTCCAGCTAC	p.Tyr others(723): Show p.Tyr1964_Gly1965insSerProTyrGlySerGlySerGlyTrpSer SerSerCysGlyProTyrGluSerGlySerGlyHisSerSerGlyLeuGl yHisArgGluSerArgSerGlyLeuSerSerGlyTyrGlyGlnHisGlyS erSerSerGlyHisSerSerThrHisGlyGlnHisGlySerAlaSerGly GlnSerSerSerCysGlyGlnHisGlyAlaSerSerGlyGlnSerSerSe rHisGlyGlnHisGlySerGlySerSerGlnSerSerSerTyrGlyGlnG lnGlySerGlySerGlyGlnSerProSerArgGlyArgHisGlySerGly SerGlyHisSerSerSerTyrGlyGlnHisGlySerGlySerGlyTrpSe rSerSerSerGlyArgHisGlySerGlySerGlyGlnSerSerGlyPheG lyHisHisGluSerSerSerTrpGlnSerSerGlyTyrThrGlnHisGly SerGlySerGlyHisSerSerSerTyrGluGlnHisGlySerArgSerGl yGlnSerSerArgGlyGluGlnHisGlySerSerSerGlySerSerSerS erTyrGlyGlnHisGlySerGlySerArgGlnSerLeuGlyHisGlyGln HisGlySerGlySerGlyGlnSerProSerProSerArgGlyArgHisGl ySerGlySerGlyGlnSerSerSerTyr	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	5968/9629	5892/8553	1964/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152215929	G G	GTGTTGTT others(701): Show GTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCATGCTGAGTGT AACCAGAGGACTGCCATGAGCTAGACTCATGGTGACCAAATCCAGAAGAC TGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACCAACCGGAGCC AGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCGGACCCATGTC GGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTGGCCATAGCTA GAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGACC TGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGCAGAAC CATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTTGACCG TAGCCAGAGGACAGTCCTGAGCGAGACTCTCGGTGACCTAAGCCAGAAGA GTGACCGGAGCCAGACTCATATGGGCCACAGCTGGAAGACCACCCTGAGC CAGACCCATATGGGCTGTAGCTGGAAGACTGCCCAGAACCAGACCCATGT CGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGGCC GTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCTGGAAG ATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTAGATGACTGTCCTGAC CTAGAGCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp1 HG01358.hp1 HG01255.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	2	416	0.0048	708	c.569 others(717): Show c.5699_5700insTGGCTCTAGGTCAGGACAGTCATCTAGGGGTGAACA ACACGGATCTAGCTCAGGTTCATCTTCCAGCTATGGTCAGCATGGGTCTG GCTCCCGTCAGTCTTTGGGCCACGGCCAACATGGGTCTGGATCTGGCCAG TCTCCTAGCCCTAGCCGTGGCCGACATGGGTCTGGTTCTGGGCAGTCTTC CAGCTACAGCCCATATGGGTCTGGCTCAGGGTGGTCTTCCAGCTGTGGCC CATATGAGTCTGGCTCCGGTCACTCTTCTGGCTTAGGTCACCGAGAGTCT CGCTCAGGACTGTCCTCTGGCTACGGTCAACATGGATCTAGCTCAGGTCA TTCCTCTACCCATGGGCAACATGGTTCTGCATCAGGACAGTCATCGAGCT GTGGCCAACATGGAGCTAGCTCAGGTCAGTCTTCCAGCCACGGTCAGCAT GGCTCTGGCTCAAGTCAGTCTTCTAGCTATGGCCAACAGGGCTCTGGATC TGGCCAGTCTCCTAGTCGCGGCCGACATGGGTCCGGTTCCGGGCACTCTT CCAGCTACGGCCAACATGGGTCTGGCTCCGGTTGGTCTTCCAGCAGTGGC CGACATGGGTCTGGCTCAGGTCAGTCTTCTGGATTTGGTCACCATGAGTC TAGCTCATGGCAGTCCTCTGGTTACACTCAGCATGGATCTGGCTCAGGTC ACTCCTCCAGCTACGAACAACA	p.His others(723): Show p.His1900_Gly1901insGlySerArgSerGlyGlnSerSerArgGly GluGlnHisGlySerSerSerGlySerSerSerSerTyrGlyGlnHisGl ySerGlySerArgGlnSerLeuGlyHisGlyGlnHisGlySerGlySerG lyGlnSerProSerProSerArgGlyArgHisGlySerGlySerGlyGln SerSerSerTyrSerProTyrGlySerGlySerGlyTrpSerSerSerCy sGlyProTyrGluSerGlySerGlyHisSerSerGlyLeuGlyHisArgG luSerArgSerGlyLeuSerSerGlyTyrGlyGlnHisGlySerSerSer GlyHisSerSerThrHisGlyGlnHisGlySerAlaSerGlyGlnSerSe rSerCysGlyGlnHisGlyAlaSerSerGlyGlnSerSerSerHisGlyG lnHisGlySerGlySerSerGlnSerSerSerTyrGlyGlnGlnGlySer GlySerGlyGlnSerProSerArgGlyArgHisGlySerGlySerGlyHi sSerSerSerTyrGlyGlnHisGlySerGlySerGlyTrpSerSerSerS erGlyArgHisGlySerGlySerGlyGlnSerSerGlyPheGlyHisHis GluSerSerSerTrpGlnSerSerGlyTyrThrGlnHisGlySerGlySe rGlyHisSerSerSerTyrGluGlnHis	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	5775/9629	5699/8553	1900/2850			chr1	TogoVar
INS_chr11_2154779_2166209	2161833	G G	GGACCCCT others(701): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACAC CCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCC CACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	100	0.0100	708	c.-68 others(717): Show c.-684_-683insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTC		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					625		chr11	TogoVar
INS_chr11_2154779_2166209	2161833	G G	GGACCCCT others(701): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCC CACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	100	0.0100	708	c.-68 others(717): Show c.-684_-683insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTC		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					625		chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406452	A A	AGTCTTCC others(701): Show AGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTC AATGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTC AGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTG TGACATCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0015 a0001c0001t0026g0015	1	143	0.0070	708	c.38 others(717): Show c.381_*382insGAGATGTCACAGAGGTCCACTCAGTGACACACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAG TGACAAACACACATTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCC ACTCAGTGACACACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAG AGGTCCACTCAGTGACACACATTGAAGGCCTGAGGAAGACTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACACACATTGAAGGCC TGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACACACATTGAAGG CCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACATTGAA GGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAC ACATTGAAGGCCTGAGGAAGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				381		chr2	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(701): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCC GCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCC ACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCC CCCACAGCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02129.hp1 HG02523.hp1 HG01258.hp1 HG02129.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0207 a0001c0001t0001g0249 a0001c0001t0001g0007 a0001c0001t0001g0207 a0001c0001t0001g0249	3	7	0.4286	708	c.-41 others(723): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCC CCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCC CACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCC CCCCACAGCTGCCCCCACAGCCGCCCCC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGCGGTG others(701): Show TGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGA TGGTAGAGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTG GGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGATGGTGGG GGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGG TGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGG GTGATGATGGTGGGAGTGGGGGTGATGACGGTGATGGTAGAGGTGATGAT GGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGA TGGTAGAGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTG GGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGATGGTGGG GGTGGGGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGG TGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGT GGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0056 a0056	a0056c0101 a0056c0101	a0056c0101t0001 a0056c0101t0001	a0056c0101t0001g0143 a0056c0101t0001g0143	1	146	0.0068	708	c.956 others(725): Show c.956+1877_956+1878insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCAT CACCGTCATCACCCCCACCCCCACCCCCACCCCCACCATCACCCCCACCA TCATCACCTCTACCATCACCGTCATCACCCCCACCCCCACCCCCACCCCC ACCATCACCCCCACCATCATCACCTCTACCATCACCGTCATCACCCCCAC CCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTCTACCATCA CCGTCATCACCCCCACTCCCACCATCATCACCCCCACCCCCACCCCCACC CCCACCATCACCCCCACCATCATCACCCTCACCATCATCACCCCCACCAT CACCATCATCACCCCCACCCCCACCCCCACCCCCACCATCACCCCCACCA TCATCACCTCTACCATCACCGTCATCACCCCCACCCCCACCCCCACCCCC ACCATCACCCCCACCATCATCACCTCTACCATCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCCCCACCGTCATCACCCCCACCGCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(701): Show ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATATTTTTTTATATAT ATTTATATATATTTTTATATATAGTTATATATATTTATATATAGTTATAT ATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGT ATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATATATATAT ATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATAT ATATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAG TTATATATATATATTTTTATATATATAGTTATATATATATTTATATATAT AGTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATTTATATATATTTATATATGTATTTATATATATTTATATATATTTAT ATGTATTTATATATATTTATATATATTTATATATATATATATAAATATAT TTATATATATAAATATAAATATTTATATATATTTATATATATTTATATAT ATATTTATGTATATTTATATATATTTATATATATATTTATGTATATTTAT ATATGTATT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	80	0.0125	708	c.125 others(725): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTTTTTTATATATATTTATATATATTTTTATATATAGTTATATAT ATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTAT AGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATTTATATATATAGTTATATATTTATATATATTTATATATATTT ATATATATATTTATATATTTATTTATATATATTTATATATGTATTTATAT ATATTTATATATATTTATATGTATTTATATATATTTATATATATTTATAT ATATATATATAAATATATTTATATATATAAATATAAATATTTATATATAT TTATATATATTTATATATATATTTATGTATATTTATATATATTTATATAT ATATTTATGTATATTTATATATGTATTTAT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	82	0.0122	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCT GCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTT TTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGC GCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGTC TGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCT GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAG GCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTTT TTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCA CAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATC CCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAG GTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATA GAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0075 a0002c0002t0020g0075	1	82	0.0122	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCT GCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTT TTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGG CGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGT CTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCC TGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCA GGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTT TTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCA CAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATC CCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAG GTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATA GAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCC TGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAG AGCTCAGCTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	82	0.0122	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCC TGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTT TTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGG CGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGT CTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCC TGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCA GGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTT TTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCT GCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGA GCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp2 others(35): Show HG00280.hp1 HG00280.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01496.hp1 HG01891.hp1 HG01975.hp1 HG02027.hp1 HG02109.hp2 HG02300.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18960.hp2 NA18986.hp1 NA19000.hp2 NA19009.hp2 NA19080.hp2 NA19086.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0020 a0001c0001t0032 a0001c0001t0051 a0001c0001t0057 a0001c0001t0060 a0001c0001t0064 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0002g0044 others(28): Show a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0157 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0186 a0001c0001t0002g0209 a0001c0001t0003g0002 a0001c0001t0003g0184 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0006g0048 a0001c0001t0006g0185 a0001c0001t0006g0204 a0001c0001t0007g0012 a0001c0001t0007g0145 a0001c0001t0007g0149 a0001c0001t0015g0028 a0001c0001t0015g0138 a0001c0001t0020g0046 a0001c0001t0020g0170 a0001c0001t0032g0140 a0001c0001t0032g0189 a0001c0001t0051g0122 a0001c0001t0057g0190 a0001c0001t0060g0177 a0001c0001t0064g0191 a0002c0002t0001g0060	38	119	0.3193	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACA AGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCC AGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGT TGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGA GCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCT GCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGA GCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	82	0.0122	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCAGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAA GGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCA GCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTT GCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAG CAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTG CAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAG CTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01433.hp1 HG00438.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0053 a0001c0001t0008 a0001c0001t0053	a0001c0001t0008g0043 a0001c0001t0053g0116 a0001c0001t0008g0043 a0001c0001t0053g0116	2	83	0.0241	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGAGCAGATCACAA GGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCA GCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTT GCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAG CAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTG CAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAG CTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0052	1	82	0.0122	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTTGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAA GGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCA GCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTT GCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAG CAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCT GCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGA GCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAACCTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0151 a0001c0001t0052g0151	1	82	0.0122	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(701): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCT GCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGA GCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCC CGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTG CCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0188 a0001c0001t0046g0188	1	82	0.0122	708	c.23 others(719): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTAAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGC		MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding					233		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(701): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGG GGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGG GAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGA TGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGG GAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGG AGGGGAGGGGAGTGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGG GGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAG GGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0249 a0001c0001t0006g0249	1	8	0.1250	708	c.250 others(723): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCC TTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCT TCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCT GCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCT TCCCCCTCCTTCCCCCTCCTTCCCCCCT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(701): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCC CCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTC CCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC TCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCC TCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCT CCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCC CCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0128 a0003c0003t0001g0128	1	4	0.2500	708	c.114 others(727): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCC CCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATC CCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
NDUFAF1_chr15_41382353_41407496	41383150	C C	CGCCCGGC others(701): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCGCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCACCCCGTCGGGGAGGGAGATGGGGGGGTCAGC CCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	351	0.0028	708	c.42 others(719): Show c.4293_*4294insAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCCG ACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGCGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGC		NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding					4202		chr15	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(701): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTAT ACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACA ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACAATACAGTATGTATACTGTATATATACACAATACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACA CACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0166 a0002c0006t0001g0166	1	118	0.0085	708	c.-75 others(727): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACT GTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATG CAGTATGTATACAGTATACATACTGTATGCAGTATACATACTGTGTATAT ATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACATACAGTATACATACATACAGTATACATACATACAGTAT ACATGCTGTATACAGTATACATGCTGTATACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(701): Show TATATTCCATATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ACATACATGGTATATATTCCATATATATACATACATGGTATATATTCCAT ATATATATACATACATGGTATATATTCCATATATATATACACATACATGG TATATATTCCATATATACATACATGGTATATATTCCTATATATACATACA TGGTATATATTCCAATATATACATACATGGTATATATTCCATATATATAC ATACATGGTATATATTCCATATATATATACATACATGGTATATATTCCAT ATATATACATACATGGAATATATATATTCCATACATGGAATATATATATT CCATATATACATATATATATTCCATATATACACAGATATATATTCCATAT ATACACATATACATGGAATATATATCTGTATATATATGGAATATATATAT GTATATATATGAAATATATATGTATATGTATTTATATTATGTATTTATAT TATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGT ATATATATTTATAATATAAATATATATTATGTATATATATTTATATTATA AATATATATTATGTATATATATTTATAATATAAATATATATTATGTATAT ATATTTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	35	0.0286	708	c.474 others(727): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATATACATACATGGTATATATTCCATA TATATATACACATACATGGTATATATTCCATATATACATACATGGTATAT ATTCCTATATATACATACATGGTATATATTCCAATATATACATACATGGT ATATATTCCATATATATACATACATGGTATATATTCCATATATATATACA TACATGGTATATATTCCATATATATACATACATGGAATATATATATTCCA TACATGGAATATATATATTCCATATATACATATATATATTCCATATATAC ACAGATATATATTCCATATATACACATATACATGGAATATATATCTGTAT ATATATGGAATATATATATGTATATATATGAAATATATATGTATATGTAT TTATATTATGTATTTATATTATAAATATATATTATGTATATATATTTATA TTATAAATATATATTATGTATATATATTTATAATATAAATATATATTATG TATATATATTTATATTATAAATATATATTATGTATATATATTTATAATAT AAATATATATTATGTATATATATTTATAATAT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(701): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGG AGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGG AGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGA GTGGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGG GGAGGTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGG AGGGTGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGT GGAGAGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAA GGAGGAGGGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGT GGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0015 a0001c0001t0022g0015	1	106	0.0094	708	c.321 others(727): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCTCCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCC TCCCTGCCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCT CCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCC ACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCT TCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCC CTGCCCTCCACCCTCCCTCCCCACTTTCCCCCCCTCCACCCTCCCTGCCC TCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCT CCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCC CTCCCCTCCACCCTCCTTACCTTCTACCCTCC		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10						chr20	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(701): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGG AGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGG AGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGA GTGGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGA GGGAGAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGG GGAGGTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGG AGGGTGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGT GGAGAGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAA GGTGGAGGGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGT GGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01243.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG01243.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0030 a0001c0001t0010 a0001c0001t0011 a0001c0001t0030	a0001c0001t0010g0058 a0001c0001t0010g0136 a0001c0001t0011g0057 others(1): Show a0001c0001t0010g0058 a0001c0001t0010g0136 a0001c0001t0011g0057 a0001c0001t0030g0026	4	109	0.0367	708	c.321 others(727): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCC TCCCTGCCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCT CCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCC ACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCT TCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCC CTGCCCTCCACCCTCCCTCCCCACTTTCCCCCCCTCCACCCTCCCTGCCC TCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCT CCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCC CTCCCCTCCACCCTCCTTACCTTCTACCCTCC		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10						chr20	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(701): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGACCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCTCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCCCTCCCCACA GAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGA GTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTC CCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAG AGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCC CACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGCCC CTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCGAGTCTGTCC CCACAGGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCC GAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGA CACCAGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03041.hp1 HG03098.hp1 others(3): Show HG01109.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0001c0025	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0004t0004 a0001c0008t0013 a0001c0025t0016	a0001c0001t0002g0166 a0001c0001t0004g0048 a0001c0001t0013g0047 others(3): Show a0001c0001t0002g0166 a0001c0001t0004g0048 a0001c0001t0013g0047 a0001c0004t0004g0165 a0001c0008t0013g0167 a0001c0025t0016g0168	6	13	0.4615	708	c.140 others(725): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCT GTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGGCTGGGGGCCTGTGGGG ACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGA CTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGG GCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTC TGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAG GGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGG GCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGAGGGCTC TGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTG GGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGTCTGTGGGGA GGGACTGGGGGCTCTGTGGGGAGGGACTGG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NUSAP1_chr15_41327881_41386046	41383150	C C	CGCCCGGC others(701): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCGCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCACCCCGTCGGGGAGGGAGATGGGGGGGTCAGC CCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CTCCGCCCGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCAGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	289	0.0035	708	c.29 others(719): Show c.2964_*2965insGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCGCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCGGGGAGGGA GATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCACCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCC AGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCT		NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding					2105		chr15	TogoVar
OR11H4_chr14_20234286_20249349	20237635	C C	CTATATAT others(701): Show CTATATATACTATACATACTATATAGTATATATAGTATATATACTATATA TACTATAGTATATATAGCATATATACTATATATACTATAGTATATATAGC ATATATGCTATATATACTATAGTATATATAGTATATATATATACTACTAT ATATAATAGTATATATAGGATATATATATACTACTATATATAGTATATAT AGTAGATATACTATATATACTATATAGTATATATAGTATATCTACTATAT AGTACATATAGTATATATAGTATATCTACTATATAGTATATATACTATAT ATACTATATAGTATATATAGTATATATACTATATATAGTATATATAGTAT ATATAGTATATATACTGTATATAGTATATATACTATATATACTGTATATA GTATATATAGTATATATAGTATATATACTATATATAGTATATATACTATA TATAGTATATATACTATATATATGGTATATATAGTATATATAGTATATAT ACTATATATACTATATATACTATATATAGTATATATAGTATATATAGTAT ATATACTCTATAGTATATATAGTATATATAGTATATATACTATATGTACT ATATAGTACATATACTATATATAGTATATGTACTATATAGTACATATAGT ATATATACTATATATACTATATATATAGTGTATATAGTATATATACTATA TATATAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	419	0.0024	708	c.-17 others(719): Show c.-1708_-1707insTATATATACTATACATACTATATAGTATATATAG TATATATACTATATATACTATAGTATATATAGCATATATACTATATATAC TATAGTATATATAGCATATATGCTATATATACTATAGTATATATAGTATA TATATATACTACTATATATAATAGTATATATAGGATATATATATACTACT ATATATAGTATATATAGTAGATATACTATATATACTATATAGTATATATA GTATATCTACTATATAGTACATATAGTATATATAGTATATCTACTATATA GTATATATACTATATATACTATATAGTATATATAGTATATATACTATATA TAGTATATATAGTATATATAGTATATATACTGTATATAGTATATATACTA TATATACTGTATATAGTATATATAGTATATATAGTATATATACTATATAT AGTATATATACTATATATAGTATATATACTATATATATGGTATATATAGT ATATATAGTATATATACTATATATACTATATATACTATATATAGTATATA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATA TATACTATATGTACTATATAGTACATATACTATATATAGTATATGTACTA TATAGTACATATAGTATATATACTATATATACTATATATATAGTGTATAT AGTATATATACTATATATATAGTG		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1650		chr14	TogoVar
PCBP3_chr21_45638725_45947450	45896875	C C	CGGCACAT others(701): Show CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACC AGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCA GACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGA CGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAG AACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACAT GGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCAGACAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	155	0.0129	708	c.165 others(723): Show c.165+540_165+541insCGGGCCATTGTCTCTGTAGGAAAGGCGGCC GCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGA AAGGCGGCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTC TCTGTAGGAAAGGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGG GCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCAGAGATGC ACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAAC CGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGC ACATAGAACCGGAGACGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGC AGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTGTCTCTGT AGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCAT TGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACGCACTGC CTGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCGGAG ATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACA TGGCACATAGAACCGGAGATGCACTGCC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(701): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	708	c.-26 others(719): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(701): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACATATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	708	c.-26 others(719): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATATGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(701): Show TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCTCTTT CTTCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCT CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCT CCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0097 a0001c0001t0023g0097	1	228	0.0044	708	c.306 others(727): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCTC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCTCTTTCTTCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTCTTTCTCTCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTC		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(701): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCATGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGC GCGATCTCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	100	0.0100	708	c.907 others(725): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCATGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCT GGAATGTAGTGGCGCGATCTCGGCTCACTG		PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(701): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGC GCGATCTCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01981.hp2 HG02976.hp1 others(6): Show HG01934.hp1 HG01981.hp2 HG02976.hp1 NA18940.hp1 NA18967.hp1 NA18989.hp2 NA19005.hp1 NA19006.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0188 a0001c0001t0002g0112 a0001c0001t0002g0121 others(6): Show a0001c0001t0001g0188 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0183 a0001c0001t0002g0282	9	108	0.0833	708	c.907 others(725): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCT GGAATGTAGTGGCGCGATCTCGGCTCACTG		PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(701): Show AGTGTGACTTGGGATGGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCT CACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	210	0.0048	708	c.227 others(725): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGGCAGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTT GTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTG TCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCA GCCTTGTCATCTCTGAGCTTTTCTCTGAGG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(701): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGAAGGGCAGAGACGAGGGAAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGGGTGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGGA GAGGAGGGAAGGAAGGGGGGAGAGGAGAGAAGGAAGGGGGAGAGGAGGGA AGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGG GAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAG GGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGG GGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGTGGGAGAGGA GGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGA AGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGGAGGAAGGAAGGAAGGA AGCAAGCAAGCAAGCAAAGCTGCTCAGAAACTAACTTCAGGAAGAAGGGA GGGAAGCTAACTTCAGAAGCTAACTTCAGGAGGGAGGGAAGGAAGGAAGG GAAGAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGGAGGAAGGGA GGAGGGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0015 a0001c0025t0015	a0001c0025t0015g0028 a0001c0025t0015g0028	1	16	0.0625	708	c.88+ others(727): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGTTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCC CCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCT TTCCTCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCT CCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCC TTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCC TCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTT CCTTCTCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTC CTCTCACCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCTGC CCTTCCTTCCTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCCTCTCTGC CCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCC TTCCTCCCCTCCCTCCCCTTCCTTCCTCCCTC		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(701): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTGGATGG AGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAATAGGA TGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGT GGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	140	0.0071	708	c.-8- others(725): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCACATCCCA TCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCA CATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCATCCCAT CCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCATCCC ATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACAT CCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTCATTCC ACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATC CCATCTACATCCCATCCCATCCCATCCCAT		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17						chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(701): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAATAGGA TGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGT GGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0060 a0002c0002t0010g0060	1	140	0.0071	708	c.-8- others(725): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCA TCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCACA TCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCC ATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCATCCCAT CCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCATCCC ATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACAT CCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTCATTCC ACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATC CCATCTACATCCCATCCCATCCCATCCCAT		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17						chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(701): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTGGATGG AGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAATAGGA TGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGT GGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	140	0.0071	708	c.-8- others(725): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCATCCCAT CCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCATCCC ATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACAT CCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTCATTCC ACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATC CCATCTACATCCCATCCCATCCCATCCCAT		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17						chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(701): Show GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTGGATGG AGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAATAGGA TGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGT GGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03017.hp1 HG03942.hp2 others(5): Show HG01993.hp1 HG03017.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18944.hp1 NA18964.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0001c0001t0001 a0001c0007t0001 a0002c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0148 others(5): Show a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0148 a0001c0001t0001g0167 a0001c0007t0001g0106 a0002c0002t0001g0078 a0002c0002t0001g0296 a0002c0002t0001g0297	8	147	0.0544	708	c.-8- others(725): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCAT		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17						chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43280957	T T	TTGGCCAC others(701): Show TTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTG GCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCC ATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTC ACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATC CTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCT GTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTC ATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACC TCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCC CTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTC AGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTC CTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTC AGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCA CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp1 HG02257.hp2 HG01192.hp2 HG01256.hp1 HG02257.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0001 a0001c0003 a0003c0001	a0001c0003t0006 a0003c0001t0001 a0003c0001t0020 a0001c0003t0006 a0003c0001t0001 a0003c0001t0020	a0001c0003t0006g0159 a0003c0001t0001g0172 a0003c0001t0020g0168 a0001c0003t0006g0159 a0003c0001t0001g0172 a0003c0001t0020g0168	3	240	0.0125	708	c.484 others(727): Show c.484+10088_484+10089insGAGGTGACAGGAGGATGGCTGAGGGA GGTGACAGGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGT GACAGGGTGACTGAGGAGGAGGTGACAGGAGGGTGGCCAAGGGAGGTGAC AGGAGGATGGCTGAGGGAGGTGACAGGATAGCTGAGGAGGAGATGACAGA AGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGGAGG GTGGCCAAAGAGGGAGGTGACAGGAGGATGGCTGAGGGAGGTGACAGGGT AGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGAC TGAGGAGGAGGTGACAGGAGGGTGGCCAAGGGAGGTGACAGGAGGATGGC TGAGGGAGGTGACAGGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAA GGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGGAGGGTGGCCAAGGG AGGTGACAGGAGGATGGCTGAGGGAGGTGACAGGATAGCTGAGGAGGAGA TGACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGA CAGGAGGGTGGCCAAGGGAGGTGACAGGAGGATGGCTGAGGGAGGTGACA GGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGACAGGG TGACTGAGGAGGAGGTGACAGGAGGGTGGCCA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(701): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0003 a0005c0023t0003	a0005c0023t0003g0033 a0005c0023t0003g0033	1	193	0.0052	708	c.165 others(725): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAA		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPAAR_chr9_35904490_35916686	35914283	A A	AGTGAGTG others(701): Show AGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGT ATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTT TGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTG TTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	225	0.0044	708	c.35 others(719): Show c.3592_*3593insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGT GTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGT TTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGT GTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGT		SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding					2598		chr9	TogoVar
SPATA3_chr2_230991121_231013040	231005545	C C	CATCACCA others(701): Show CATCACCACCATGACCATCGTCACCACCACCATCATCACCACCATAATCA CCACCACCATCATCACCGTCACCATCATCACCACTACCATCACCACCACC ACCACCATCACCACCACCATCATCACCATCATCATATCACCATCATCATC ATCACAACCACCATCATCACCACCACCACCATCACCACAACCATCATCAT CATCATCACCACCACCACCATCATCACCATCATCATCACCATCACCATCA TCATAACCATCACTATCACCACCACCACCACCATCACCACCACCATCACC ATCATCACTGCCATCATCACCATCACCATCATCATCACCACCACCATCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCATCACCATCA CCACCACCACCATCACCATCATCACCGCCATCATCACCATCACCATCACC ACCACCATCGCCATCATCACCGCCATCATCACCATCACCATCACCACCAG CATCACCATCATCATCACCACCACCATCACCACCACCATCACCATCATCA CCGCCATCATCACCACAACCACCATCATCACCATCACCATCATCATCACC ACCACCATCACCATCATCACCCACCATTACCATCATCACCGCCATCATCA CCATCACCATCATCACCATCATTACCACCATCACCATCAGCATCGCGATC ATCACCATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0133 a0002c0002t0003g0133	1	169	0.0059	708	c.11 others(727): Show c.118+1437_*118+1438insTGACCATCGTCACCACCACCATCATC ACCACCATAATCACCACCACCATCATCACCGTCACCATCATCACCACTAC CATCACCACCACCACCACCATCACCACCACCATCATCACCATCATCATAT CACCATCATCATCATCACAACCACCATCATCACCACCACCACCATCACCA CAACCATCATCATCATCATCACCACCACCACCATCATCACCATCATCATC ACCATCACCATCATCATAACCATCACTATCACCACCACCACCACCATCAC CACCACCATCACCATCATCACTGCCATCATCACCATCACCATCATCATCA CCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCATCACCATCACCACCACCACCATCACCATCATCACCGCCATCATCAC CATCACCATCACCACCACCATCGCCATCATCACCGCCATCATCACCATCA CCATCACCACCAGCATCACCATCATCATCACCACCACCATCACCACCACC ATCACCATCATCACCGCCATCATCACCACAACCACCATCATCACCATCAC CATCATCATCACCACCACCATCACCATCATCACCCACCATTACCATCATC ACCGCCATCATCACCATCACCATCATCACCATCATTACCACCATCACCAT CAGCATCGCGATCATCACCATTATCACCACCA		SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(701): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	283	0.0035	708	c.909 others(723): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTC		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(701): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC CCCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCA TCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCC CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCATCA TCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCAC CCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCAC CCACCATCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	117	0.0085	708	c.113 others(727): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCCCCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCCCCCACCAT CCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCAC CATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCC CATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCACC CCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATC CACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCA TCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATC CTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCACCATCC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCACCC others(701): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGC CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0338 a0007c0012t0003g0338	1	333	0.0030	708	c.-13 others(719): Show c.-1351_-1350insCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACGGGG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1295		chr19	TogoVar
TH_chr11_2158929_2176815	2161833	G G	GGACCCCT others(701): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACAC CCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCC CACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	98	0.0102	708	c.23 others(719): Show c.2399_*2400insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGG TGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGG GGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTC		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2095		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(701): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG CGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19060.hp2 NA19010.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0261 a0001c0001t0041g0262 a0001c0001t0041g0261 a0001c0001t0041g0262	2	265	0.0075	708	c.189 others(725): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGG		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747310	C C	CTGGGGTA others(701): Show CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAAA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGCGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	301	0.0033	708	c.189 others(725): Show c.189-1016_189-1015insTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAG		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11						chr12	TogoVar

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