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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DIP2C_chr10_269201_694668	478245	A A	AGAAGAGG others(865): Show AGAAGAGGGGAGGGGGAGGGGGAGAAGAGGGGAGGGGGAGAGGGAGGGGA GAGGTGAGAGGGGAGGGGAGGGGGTGTGGAGGGAGGGGGAGGGGGAGTGG TGGGGAGGGGAGGGGAGGAGGAGGGGAGGGGGGGGAGGGATGGGTGGGGG AGGAGGGTGAGGGTGGGGAGGGGTGAGGGTGGGGTGGGTGGGGGGTGATG GGAGGGGTGGGGAGAGGGAGGGGAGTGGGGAGGGGAGGGGAGGGGTGGGG AGGGGAGATGATGGGTGGGGTGGGGAGAGGTGGTGGGAGGGGTGAGTGGG AGGGGTGGGTGGGTGTGGGGAGGGGAGAGAAGGTGGAGGGGGAGGGGAGG GAGTTGGGAGGGGTGGGGAGAAGGGAGGGTGTAGTGGGAGGGGAGAGAAG GGAGGGGAGAGTTGGGTGGGGTGAGAAGGGAGGGGTGAAGTGGGTGGGGA GTTGTGGGAGGGGTGAAGAGGAGGGGAGGGAGAAGGGAGGGGAGGGAAGG AGGGGGGAGGGGGGAGAAGTAGGGAGGGTGAGGGAGGGGAGGGGAGAAGG GAGGGGAGGGGAGGGGTGGGGAGGGGAGGGGTGGAGGGGAGGGGGGTGGG GAGAGGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGAGGGGAGGGGAGGGG AGGAGAAGGAGGGAGGGGAGGGGAGAGGAGGGGAGGGAGGGGAGGGGGGG AGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAGGAGGGGAGGGGAG AAGGAGGGGAGGGGAGATGAAGGGAGGGGAGAAGAAGGGAGGGAGAAGAG GGAGGGGAGTAGAAGGGAGGGGAGATGAGGGAGGGGAGAAGAAGGGAGGG GAGAAGAAGGGGAGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	86	0.0116	872	c.158 others(889): Show c.158-5697_158-5696insCCCTCTCCCCTCCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTCATCTCCCCTCCCTTCTACTCCCCTCCCTCTT CTCCCTCCCTTCTTCTCCCCTCCCTTCATCTCCCCTCCCCTCCTTCTCCC CTCCCCTCCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCTCCCCC CCTCCCCTCCCTCCCCTCCTCTCCCCTCCCCTCCCTCCTTCTCCTCCCCT CCCCTCCCCTCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCAC CCCCCTCCCCTCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCTTC TCCCCTCCCCTCCCTCACCCTCCCTACTTCTCCCCCCTCCCCCCTCCTTC CCTCCCCTCCCTTCTCCCTCCCCTCCTCTTCACCCCTCCCACAACTCCCC ACCCACTTCACCCCTCCCTTCTCACCCCACCCAACTCTCCCCTCCCTTCT CTCCCCTCCCACTACACCCTCCCTTCTCCCCACCCCTCCCAACTCCCTCC CCTCCCCCTCCACCTTCTCTCCCCTCCCCACACCCACCCACCCCTCCCAC TCACCCCTCCCACCACCTCTCCCCACCCCACCCATCATCTCCCCTCCCCA CCCCTCCCCTCCCCTCCCCACTCCCCTCCCTCTCCCCACCCCTCCCATCA CCCCCCACCCACCCCACCCTCACCCCTCCCCACCCTCACCCTCCTCCCCC ACCCATCCCTCCCCCCCCTCCCCTCCTCCTCCCCTCCCCTCCCCACCACT CCCCCTCCCCCTCCCTCCACACCCCCTCCCCTCCCCTCTCACCTCTCCCC TCCCTCTCCCCCTCCCCTCTTCTCCCCCTCCCCCTCCCCTCTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DMD_chrX_31114222_33216549	32704292	C C	CTGAAAGT others(865): Show CTGAAAGTCATTATTCAGATAGTTACCTAGTTACCTTGTAATTAATGTGG TTCAATTACCAAACATGATCTCTATTTAGTAGTAGTGATTTATATTTCTA ATAACTGATGTATAACAAGACTAAATATACATTAAAATGAACCACTGAAA TGCAAATTAGAGATATGGGGTTTTAACTACATTCCCTTGCCTACAAAATT TGCAAAGAATTACAAAATAATAATAATCGATGCTGCAGAGGCTTCAATGA TTTGGCCAAATACCTACTTAGCTTGAACAGTATCAGTTGTTTCTAACCTG ATGAAAAATATTTTGGGATTGTCTATCAAAACCTTAAAAAAAACATATGC TATGACCCATTACTTTTCCTTTAAAGTCCTGCCACAAGGAAATTATCAGA AATTTAAATAAAGATATATGTAAATGTTATATAAAATTTAAACAGTATTT ATAACACAAAAAGAAGTATTTGTCATACAAAAAAGGAAAAAGACCAATCC AAATATCTTAACAGGTAGAGACTTAGAGAATAAATGAATATATAACTGTA TAAGAATATTACAAAGCTAGTCAAAATGTTCCTTTTGAAGGCTATTTGAC ACTATATTAAAGTCAATACCTTACAATGTAACATCAAAAGAGCAGGAGTT ATCATTTATGTAGAAAAATCTTAGGAAAACACCTGAGAAAATACTTCAAG ACATCAGTAAAGTGGATGTGCTTGCGGGATTGAAAATAATTCCCTTTTAA AATTTTATTCTATCTATATTTTCCAAACTCTTTATTCAACACATACTAAT TTTGTAATAAATATATTCCATGTTATAATAAAAGTATCTGCAAAGATAAA AAAAAAAAAAAAAAAGCAAAGTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0077 a0002c0009t0001g0077	1	113	0.0088	872	c.650 others(889): Show c.650-5000_650-4999insAACTTTGCTTTTTTTTTTTTTTTTTTAT CTTTGCAGATACTTTTATTATAACATGGAATATATTTATTACAAAATTAG TATGTGTTGAATAAAGAGTTTGGAAAATATAGATAGAATAAAATTTTAAA AGGGAATTATTTTCAATCCCGCAAGCACATCCACTTTACTGATGTCTTGA AGTATTTTCTCAGGTGTTTTCCTAAGATTTTTCTACATAAATGATAACTC CTGCTCTTTTGATGTTACATTGTAAGGTATTGACTTTAATATAGTGTCAA ATAGCCTTCAAAAGGAACATTTTGACTAGCTTTGTAATATTCTTATACAG TTATATATTCATTTATTCTCTAAGTCTCTACCTGTTAAGATATTTGGATT GGTCTTTTTCCTTTTTTGTATGACAAATACTTCTTTTTGTGTTATAAATA CTGTTTAAATTTTATATAACATTTACATATATCTTTATTTAAATTTCTGA TAATTTCCTTGTGGCAGGACTTTAAAGGAAAAGTAATGGGTCATAGCATA TGTTTTTTTTAAGGTTTTGATAGACAATCCCAAAATATTTTTCATCAGGT TAGAAACAACTGATACTGTTCAAGCTAAGTAGGTATTTGGCCAAATCATT GAAGCCTCTGCAGCATCGATTATTATTATTTTGTAATTCTTTGCAAATTT TGTAGGCAAGGGAATGTAGTTAAAACCCCATATCTCTAATTTGCATTTCA GTGGTTCATTTTAATGTATATTTAGTCTTGTTATACATCAGTTATTAGAA ATATAAATCACTACTACTAAATAGAGATCATGTTTGGTAATTGAACCACA TTAATTACAAGGTAACTAGGTAACTATCTGAATAATGACTTTCA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCCTTCC others(865): Show TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTC TCCTTTCCCCTCCTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	215	0.0047	872	c.105 others(887): Show c.105-730_105-729insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCCTCCTTCTCCTTTCCCCTCCTTCTTCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(865): Show GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGCACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGAAGGAGA GACGGAGGGAGGGAGGAAGGGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0090 a0001c0001t0059g0090	1	11	0.0909	872	c.-16 others(893): Show c.-168+57738_-168+57739insGTCCCTTCCTCCCTCCCTCCGTCT CTCCTTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTGCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GTPBP6_chrX_299759_323796	321755	A A	AAAAAAAA others(865): Show AAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCC CAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTG ACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAA AAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTC CCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTT GACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAA AAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTC GGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCA TGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAGAAAAGA AAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCT CGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGC ATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAG AAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAGCTGCTCGGGACGC TGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAA TATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0021 a0021	a0021c0022 a0021c0022	a0021c0022t0001 a0021c0022t0001	a0021c0022t0001g0048 a0021c0022t0001g0048	1	101	0.0099	872	c.-29 others(883): Show c.-2969_-2968insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTT TTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCA AACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGG ACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTT GTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGG GCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGC ACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAATG GGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAA TCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACC ACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2960		chrX	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(865): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCCCAGCCACC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCCCAGCCACCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGC CGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCAC AGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGC CCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	5	0.2000	872	c.-41 others(887): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCCCAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCCCAGCCACCCCCCCACAGCCGCC CCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAG CCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCAC AGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCA CAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCG CCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(865): Show CTCCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCG CCAATCACACTCTCCAATCCCCATCACACTCCCCACCCCCTCTAATCACA TTCCCCATCCCTCTAATCACACACCCCATCCCCTCTAATCACACTCCCCA CCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCA CACTACCCACCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCA CCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCA CACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCA CCCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATC ACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCACACTC CCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCA ATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACACT CCCCACCCCCTCTAATCACACTCCCCACCCCAATCACACTCCCCACCCCC AATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACAC TCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCCCCATCCCCT CTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCAATCACACTC CCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCACACTCCCCACC CCCTCTAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATC ACACTCCCCACCCCCCAATCACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02015.hp2 others(7): Show HG00621.hp2 HG00673.hp1 HG02015.hp2 HG02155.hp1 NA18966.hp1 NA18970.hp2 NA18975.hp2 NA19004.hp1 NA19056.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0004c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0156 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0156 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0010g0262 a0001c0002t0001g0196 a0004c0011t0001g0148	10	20	0.5000	872	c.104 others(891): Show c.1048-1427_1048-1426insTGTGATTGGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGT GGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGATTGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGG GGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTG TGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGG GGTGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGT GTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGG GGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAG TGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGGTGG GGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGA TTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGG GGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGTAGTGTGA TTGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGG GGAGTGTGATTAGAGGGGATGGGGTGTGTGATTAGAGGGATGGGGAATGT GATTAGAGGGGGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCGG GTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCGTGTGGGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(865): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGATGGCGGTAGGGGTGATGACGGTGATGATG GGGGTGGGGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTAGGGG TGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATG ATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGACGGTGATGGT GGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGATGGTGGGGGTGA TGACGGTGATGGTGGGGGTGATGACGATGATGGTGAGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTAGGGGTGATGA TGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTG ATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGT GATGATGGTGGGGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0075 a0002c0013t0001g0075	1	31	0.0323	872	c.956 others(889): Show c.956+1962_956+1963insCCACCCCCACCCCCACCATCATCACCCC CACCATCACCATCATCACCCCCACCCCCACCCCCACCCCCACCATCACCC CCACCATCATCACCCTCACCCCCACCCCCACCCCCACCCCCACCATCATC ACCCCTACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCG TCATCACCCTCACCATCATCGTCATCACCCCCACCATCACCGTCATCACC CCCACCATCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCAT CACCGTCATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCA CCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCCT ACCATCACCATCATCACCCCCACCCCCACCCCCACCATCACCCCCACCCC CACCGTCATCACCCCCACCATCACCCCCACCCCCACCGTCATCACCCCCA CCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCCCCACCCCCATCA TCACCGTCATCACCCCTACCGCCATCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCGTCATCACCCCCCCCACCCCCATCATCACCGTCAT CACCCCTACCGTCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCA CCATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(865): Show TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATCCATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0243 a0002c0002t0002g0243	1	207	0.0048	872	c.126 others(889): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATGGATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATGGATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LOC114841035_chr11_64236095_64249132	64237098	A A	AGGGGAGA others(865): Show AGGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGA GAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	872	c.-41 others(883): Show c.-4182_-4181insGGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGA GGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAG AGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3996		chr11	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(865): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG TAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGT TATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	348	0.0029	872	c.-29 others(883): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAA CTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAA AACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAATTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAC AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATAT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1930159	C C	CCCCACTG others(865): Show CCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCC TCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGT CCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGC CACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCC ACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGT CCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCC CCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCC TCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACA ACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCGCTGC CACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCG CTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCGT CCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCC CCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCC TCGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGT CCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACCGC CACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCC ACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0004 a0001c0006t0001 a0001c0007t0004	a0001c0006t0001g0218 a0001c0007t0004g0078 a0001c0006t0001g0218 a0001c0007t0004g0078	2	255	0.0078	872	c.180 others(891): Show c.1807+6527_1807+6528insACGGGGCGAGGGGACGTGGCAGTGGG GGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCG GTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACG TGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGCGG GGACGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCA GCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGT GGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGG GACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGC GAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGG GACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCA GCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACG TGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCG AGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(865): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCC CCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCC CTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCT CTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCC CTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCC TCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCC TCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCC TCCCCCTCTCCCCCTCCCCACTCTCCCCTCCCCCTCTCCCTCCCCCCTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACC CCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTTCT CCCCCACCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0050 a0001c0006t0050	a0001c0006t0050g0037 a0001c0006t0050g0037	1	6	0.1667	872	c.100 others(891): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCC CTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCC TCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTC TTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCC CTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCC CCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCC CCCATTCCCCTCCCTCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCC CTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCC TCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCCTCCCCCTC TCCCTCCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCC CCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
PCBP3_chr21_45638725_45947450	45910067	C C	CGGACCCC others(865): Show CGGACCCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCC CAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCC CACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCGG CCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGC CCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCC ACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCC CACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGAC CCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGA TACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCT TCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCA CCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCC CCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACG GACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGA TACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTT CCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCAC ACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACC TGGCCCACCCACTGCCCAGATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	272	0.0037	872	c.471 others(887): Show c.471+592_471+593insCACCCACTTCCCAGATATGGACCTGGCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGC CCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCA CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCT GGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAG ACCCGGCCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAG ATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACAC TTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCT CACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGAC CCCCCCCACCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATA CGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCAC TGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCA ACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGAC CCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAA TATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(865): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGG CAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCA GGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGC CAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCG GCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTT TCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGG CGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAG GGGCTCCTCACATCCCAGACAAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	348	0.0029	872	c.76+ others(887): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAG ACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAG AGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCAC ATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGC AGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAG GCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCC TCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAG ACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(865): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCA GAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGG CAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCA GGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGC CAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCG GCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTT TCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGG CGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAG GGGCTCCTCACATCCCAGACAAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0026 a0001c0001t0009g0026	1	348	0.0029	872	c.76+ others(887): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACAATGGGCGGCCAGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAG ACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAG AGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCAC ATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGC AGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAG GCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCC TCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAG ACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
RASA3_chr13_113972783_114137623	114099909	A A	ACCCCACA others(865): Show ACCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCA CAGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACA GCCCCCACAGCCCCCCACAGCCCCCACACAGCCCCCCACAGCCCCCCCGT AGCCCCCCCACAGCCCCCCCCGCAGCCCCCCCACAGCAGCCCCCCCTGCA GCCCCCCCCGCAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCA GCTCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCC CCCACAGCCCCCCACAGCAGCTCCCCCACAGCCCCCCCACAGCCCCCACA GCAGCCCCCCCACAGCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCAG CCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCACACAGCCCCCCA CAGCCCCCCCGTAGCCCCCCCACAGCCCCCCCCGCAGCCCCCCCACAGCA GCCCCCCCTGCAGCCCCCCCCGCAGCCCCCCCACAGCAGCCCCCCCACAG CCCCCCACAGCAGCTCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCC CCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCAC AGCAGCCCCCCCACAGCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCC CCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAG CCCCCCACAGCCCCCCCGTAGCCCCCCCACAGCCCCCCCCGCAGCCCCCC ACAGCAGCCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCCCCGCAGC CCCCCACAGCAGCCCCCCACAGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0064 a0001c0007t0002g0064	1	34	0.0294	872	c.56- others(889): Show c.56-26073_56-26072insGCTGTGGGGGGCTGCTGTGGGGGGCTGC GGGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGCTGCTGTGGGGG GCTGCGGGGGGGGCTGTGGGGGGGCTACGGGGGGGCTGTGGGGGGCTGTG GGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGCTG TGGGGGGGCTGCTGTGGGGGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGG GGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCT GCTGTGGGGGCTGTGGGGGGGCTGTGGGGGAGCTGCTGTGGGGGGCTGTG GGGGGGCTGCTGTGGGGGGGCTGCGGGGGGGGCTGCAGGGGGGGCTGCTG TGGGGGGGCTGCGGGGGGGGCTGTGGGGGGGCTACGGGGGGGCTGTGGGG GGCTGTGTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCT GTGGGGGGGCTGCTGTGGGGGCTGTGGGGGCTGTGGGGGGGCTGCTGTGG GGGCTGTGGGGGGGCTGTGGGGGAGCTGCTGTGGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGAGCTGCTG TGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGCGGGGGGGGCTGCAG GGGGGGCTGCTGTGGGGGGGCTGCGGGGGGGGCTGTGGGGGGGCTACGGG GGGGCTGTGGGGGGCTGTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTGG GGGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGG GGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(865): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAGAATGG ACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGTG GCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCT GACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTG GGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGCA CCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAAA AAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCAA TAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19074.hp1 NA18960.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0002 a0001c0001t0020 a0001c0002t0002	a0001c0001t0020g0145 a0001c0002t0002g0084 a0001c0001t0020g0145 a0001c0002t0002g0084	2	200	0.0100	872	c.-26 others(891): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTATTG GTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTT TTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGC AATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAG CTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGG CTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCAC AGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCA TTCTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAAT TCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAG TGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCC TAGGCAGAGGACCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTT GAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCAT CTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAG TGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAG ATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATG AAAAGTCTCCCATGTCTACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(865): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATA TTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	27	0.0370	872	c.-75 others(891): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATAAACTAAATATATAA ATATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATAT GTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATATGTAAATATATATTTATAAACTAAATATATAAATATATATTTATAAA CTAAATATATAAATATATATTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(865): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGGAGGACGAGGAGGAGGGAGGAACAGGAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGG AGGAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGG GGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAG ATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGG AGGAGGAGGAACCAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGA ATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGC ACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAGGGCACAGGAG GAGGAGGAGGAGGCACAGGAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0153 a0001c0035t0001g0153	1	2	0.5000	872	c.-12 others(891): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTCCTC CTGTGCCCTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCCTCCTGTGCC TCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTT CCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCC TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGGTTCCTCCTCCTCCT TCTCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTG GGACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCT GGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCT CCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT CCTGTTCCTCCCTCCTCCTCGTCCTCCCTGTTCTTCCTCTTCCTCCTCCT CCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTCCCCACAGT GTCCTAGCACCTGTTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1290196	T T	TCCGTCCC others(865): Show TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0001 a0021c0025t0001	a0021c0025t0001g0255 a0021c0025t0001g0255	1	247	0.0040	872	c.166 others(887): Show c.1663-68_1663-67insCCGTGTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280301	G G	GTATATAT others(865): Show GTATATATAATATATATTGTATATATTTTATATTGTATATAATATATATT GTATATATAATATATATTGTATATATTATATATTGTATATATAATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATATTGTATATATTATATATTGTATATATTA TATATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATTATATATTGTATATATAATATATATATTGTATATATTATATATTGT ATATATTATATATTGTATATATAATATATATAGTATATATTATATATTGT ATATATAATATATATATTGTATATATTATATATTGTATATATAATATATA TATTGTATATATTATATATTGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02897.hp1 HG02280.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0073 a0001c0005t0001g0096 a0001c0005t0001g0073 a0001c0005t0001g0096	2	154	0.0130	872	c.176 others(889): Show c.176-5260_176-5259insTACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACTATATATATTATATATACAATATATAATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATAATATATACAATATATATATTATATATACAATATATATATAATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT ATATTATATATACAATATATAATATATACAATATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATAATATATA CAATATATATATTATATATACAATATATAATATATACAATATATATATTA TATATACAATATATAATATATACAATATATATATTATATATACAATATAT AATATATACAATATATATATTATATATACAATATATAATATATACAATAT ATATATTATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATATTATATACAATATAAAATATATACAATATATATTATATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(865): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAG TGAGGGGCGCGCTGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGG GCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGG GGAGCGCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCG CGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTG AGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGT GAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGG CGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCG GGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAG GGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGA GGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCG CGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGG TGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGG GTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGG GGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGCGCG CGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATGC GCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0299 a0001c0001t0003g0299	1	283	0.0035	872	c.-12 others(883): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCA CACTTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTC ACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCAC CCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCT CACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCC TCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTC CCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCA CCCCTCACCCGCGCGCCCCTCACCCTTCACCCGCGCTCCCCTCACCCTTC ACCGGCGCGCCCCTCACCCCTCACCCCTCACCCAGGCGCCCCTCACCCTT CACTCGCGCATCACTCACGCCTCACCAGCGCGCCCCTCACTCTTCACCCG CGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCC CCTCACTCTTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76438015	T T	TGAAAATT others(865): Show TGAAAATTAACGTCAATTCCATTGATCTATATCTCTGTTTTGGTACCAGT ACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGT AGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAAT GCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATT CTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAA ATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCA TGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGA GCAGTGGTTTGTAGTTCTCCTTGAATCATGCTGCTATAAAGACACATGCA CACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAA CCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATA CACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTG TAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAA GAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAAC AATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGT GGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATG CTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACA TATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTAT AATAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0043 a0001c0001t0025g0043	1	101	0.0099	872	c.623 others(891): Show c.623+25613_623+25614insTTCCATTGATCTATATCTCTGTTTTG GTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGA AGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGAC TTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTT TTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGA ATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTT CCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTAT TTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAATCATGCTGCTATAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT ATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTG GGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATAT ACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACA TGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACT TAGAGTATAATAAAAAAAAAAAAAAAAAAAAGAAAATTAACGTCAA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1627981	C C	CGGGGTGA others(865): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGG AAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0073 a0002c0001t0015g0073	1	250	0.0040	872	c.299 others(887): Show c.299-556_299-555insCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCC CACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT GCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCA CCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(865): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0280 a0001c0001t0011g0280	1	264	0.0038	872	c.189 others(889): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM87B_chr2_112050269_112124314	112114497	T T	TCTACAGA others(865): Show TCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA GGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAA GAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTA CAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCA TAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGA AAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCAT TACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATT CATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACA GAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGC ATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGA TTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTA CAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTA GCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAA GATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTC TACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATG TAGCATTACAGAAAGATTCATAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0099 a0001c0001t0002g0100	2	314	0.0064	872	c.160 others(891): Show c.1609-1538_1609-1537insGGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA TGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAA GATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTA CAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCA TAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGA AAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCAT TACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATT CATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACA GAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGC ATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGA TTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTA CAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTA GCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAA GATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTA CAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(865): Show TATACTATTATATCATCATATGATGATATGATACTATTATATCATCATAT GATGATATGATACTATTATATCATCATATGATGATATGATACTATTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGGTGATATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	141	0.0071	872	c.41- others(889): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGGTGATATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCATCACC others(865): Show TCATCACCATCACCACCACCACCACCACCACCACTAGCACTACCACCATC ATAATTACCACCACCATCACCACCACCACCACCACTATCACCATCATCAC CACCACCACCACCACCACTAGCACAACCACAACACTACCACATCACCACC ACCACTACCACTACTACCATCACCATCACCACCACCATCACCACCACCAC CACAATACTACCACATCACCACCACCACCATCATCATCACCACCACTACC ACCACCACTACCACCACCACCACCATCACTACTACCATCACCACCACCAC CACCACCACCACCACCACGACCACCACAACACTACCACATCACCACCACC ACGACCACCACTGCCACCACCACTACCACCACCACCACTACCACCATCGC CACCATCACCACCACATCACCACCACCACCACCACTACTACCACCACCAC CACCATCACCACTACTACCATCACCACTACTACCACCACCACCATCACCA CTACTACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ATCACAATCACCACCACCATCACCACCACCACTACCACCACCACCATCAC CATCATCACCACCACCACCAACACTACTGCCACCACCACTATTACCATCA CCACCACTACTACCACCACCACTACCATAACCACCATCATCACCATCACC ATCATTACTGCTATTATGACCACCATCACTACCACCATTATCACCACCAC CACTAAACTACCACCACTACCTCACTGCCATCATCACCATCACCATTACT AACATCACCATTACTAACATCACCATTATAATACTACCACCATCACTACC ACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	51	0.0392	872	c.24 others(883): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTG GTGGTGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGT AGTAGTGGTGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGT AGTGGTGGTGGTGGTAGTGGTGGTGGCAGTGGTGGTCGTGGTGGTGGTGA TGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTAGTAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGG TGATGATGATGGTGGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGGT GATGGTGGTGGTGATGGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGT GGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGT GATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTATGATGGTGGTAG TGCTAGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTTGGGGG others(865): Show GTTGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG GGGAGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCT GTGGGATGGGGGTCGGGTTCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0188 a0001c0006t0004g0188	1	269	0.0037	872	c.218 others(887): Show c.2182+41_2182+42insTGGGGGGAGCTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGGTTCGGCT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(865): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATA TTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	24	0.0417	872	c.82+ others(887): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATT TATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAA TATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTA TAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTA TAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTA TAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(866): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTAT ATATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATATT TTATATATAGTATGTACATTGTATATACTATATATATATTTTATGTATAG TATGTACTATATATATTTTATGTATAGTATGTACATTGTATATACTATAT ATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTA TATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTAT GTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATA TTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAG TATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGT ATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATA TATTTTATGTATAGTATATATACT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG02055.hp2 others(1): Show HG00639.hp2 HG01106.hp1 HG02055.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0078 a0002c0002t0001g0083 others(1): Show a0002c0002t0001g0071 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0085	4	162	0.0247	873	c.505 others(892): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATA TATATAGTACATACAGTATATATACTATACATAAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATA TACTATACATAAAATATATATAGTACATACAGTATATATACTATACATAA AATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGT ACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATA TATACTATACATAAAATATATATAGTACATACTATACATAAAATATATAT ATAGTATATACAATGTACATACTATACATAAAATATATATAGTACATACT ATACATAAAATATATATATAGTATATACAATGTACATACTATATATAAAA TATATATAGTACATACTATATATAAAATATATATAGTACATACTATATAT AAAATATATAGTACATACTATATATAAAATATATAGTACATACTATATAT AAAATATATAGAGTACATACTATATATAAAATATATAGAGTACATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(866): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATATA CTATATATATTTCATGTATAGTATATATACTGTATATACTATATATATTT TATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	30	0.0333	873	c.505 others(892): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATGAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACTA TATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(866): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATATA CTATATATATTTTATGTATAGTATATATACTGTATATACTATATATATTT TATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	30	0.0333	873	c.505 others(892): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACTA TATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(866): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTATATA CTATATATATTTTATGTATAGTATATATACTGTATATACTATATATATTT TATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	30	0.0333	873	c.505 others(892): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACTA TATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
C22orf42_chr22_32144006_32164303	32145546	A A	ATATAATG others(866): Show ATATAATGATATATAATATATTATATTATATAATGATATATAATATATTA TATTATATAATGATATATGATATATTATATTATATAATGATATATGATAT ATTATATTATATAATGATATATGATATATTATATTATATAATGATATATG ATATATTATATTATATAATGATATATGATATATTATATTATATAATGATA TATGATATATTATATTATATAATGATATATGATATAATATATTATATAAT GATATATGATATAATATATTATATAATGATATATAATATAATATATTATA TAATATATAATATATTATATTATATAATGATATATAATATATTATATTAT ATAATGATATATAATATATTATATTATATAATGATATATAATATATTATA TTATATAATGATATATAATATATTATATTATATAATGATATATAATATAT TATATTATATAATGATATATAATATATTATATTATATAATGATATATAAT ATATTATATTATATAATGATATATAATATATTATATTATATAATGATATA TAATATATTATATTATATAATGATATATAATATATTATATTATATAATGA TATATAATATATTATATTATATAATGATATATAATATATTATATTATATA ATGATATATAATATATTATATTATATAATGATATATAATATATTATATTA TATAATGATATATAATATATTATATTATATAATGATATATAATATATTAT ATTATATAATGATATATAATATATAATGATATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATAATGATATATAATATAATTTAT TATATAATGATATATAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0115 a0005c0008t0002g0115	1	390	0.0026	873	c.39 others(884): Show c.3993_*3994insAATTATATTATATATCATTATATAATAAATTATA TTATATATCATTATATAATAAATTATATTATATATCATTATATAATATAA TAAATTATATATCATTATATATTATATATCATTATATAATATAATATATT ATATATCATTATATAATATAATATATTATATATCATTATATAATATAATA TATTATATATCATTATATAATATAATATATTATATATCATTATATAATAT AATATATTATATATCATTATATAATATAATATATTATATATCATTATATA ATATAATATATTATATATCATTATATAATATAATATATTATATATCATTA TATAATATAATATATTATATATCATTATATAATATAATATATTATATATC ATTATATAATATAATATATTATATATCATTATATAATATAATATATTATA TATCATTATATAATATAATATATTATATATCATTATATAATATAATATAT TATATATCATTATATAATATAATATATTATATATCATTATATAATATAAT ATATTATATATCATTATATAATATAATATATTATATATTATATAATATAT TATATTATATATCATTATATAATATATTATATCATATATCATTATATAAT ATATTATATCATATATCATTATATAATATAATATATCATATATCATTATA TAATATAATATATCATATATCATTATATAATATAATATATCATATATCAT TATATAATATAATATATCATATATCATTATATAATATAATATATCATATA TCATTATATAATATAATATATCATATATCATTATATAATATAATATATTA TATATCATTATATAATATAATATATTATATATCATTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3459		chr22	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(866): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCATCCAACCCTCCCACTATGTCCTCTCCCACTACTCACCTTCCAACCC TCCCACTATTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCC TCCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCTCCCCCACTAC TCACCTTCCAACCCTCCCACTATTTCCTCCCCCCACTACTCACCTTCCAA CCTTCCCACTATTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATT TCCCCCCGACTACTCACCATCCAACCCTTCCACTATTTCCCCCCCACTAC TCACCATCCAACCCTCCCACTATGTCCTCTCCCACTACTCACCTTCCAAC CCTCCTATTCCCCCCACTACTACTCACCATCCAACCCTCCCAGTACTCAC CTTCCAACCCTCCCACTATCCCCCCCTACTACTCACCTTCCAACCCTTCC ACTATTTCCCCACTACTACTCACCTTCCAACCCTCCCACTATTTCCTCCC TCCAACTACTCACCTTCCAACCCTCCTACTATTCCCCCGCTACTACTCAC CTTCCAACCCTCCCACTATTCCCCCACTACTGCCCACCTTCCAACCCTCC CACTATTCCCCCGCTACTACCTACCTTCCAACCCTCCCACTATTTCCTCC CACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	2	0.5000	873	c.266 others(890): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGGATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAA ATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAGGGT TGGAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGT AGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAA TAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGG TTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGG GGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CDH4_chr20_61247261_61945617	61331574	A A	ACTACCTG others(866): Show ACTACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCTCAGATCTA CCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCT GCCCCAGACCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTG CCCCGGCCACCTGCCCTAGAGCCACCTCCTGCCCCGGCCACCTGCCCCAG ACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGC CACCTGCCCCAGACCCACCTCCTGACCAAGCCACCTGCCCCAGACCCACC TCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCCACCT CCTGCCTCAGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCC CCAGAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCTGCCC CGGCCACCTGTCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCC CACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCAC CTGCCCCAGACCCACCTCCTGACCAAGCCACCTGCCCCAGACCCACCTCC TGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCCACCTCCT GCCTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCCACCTGCCCCA GAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCTGCCCCGG CCACCTGTCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCAC CTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTG CCCCAGACCCACCTCCTGACCAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0102 a0002c0002t0023g0102	1	104	0.0096	873	c.169 others(892): Show c.169+76638_169+76639insTACCTGCCCCAGGCCCACCTCCTGCC CCGGCCACCTGCCTCAGATCTACCTCCTGCCCTGGCCACCTGCCCCAGAC CCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGACCCGACCA CCTCCCCCAGGCTCACCTCCTGCCCCGGCCACCTGCCCTAGAGCCACCTC CTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCC CAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGACCA AGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCC ACCTCCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACCCA CCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCT ACCCCAGACCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCCACCTCCTG CCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAG ACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGACCAAGC CACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACC TCCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCT CCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACC CCAGACCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCCACCTCCTGCCC CGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGACC CACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGACCAAGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(866): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGATGGAAGGAGGGAGGGAGGGAGGACAGAGGGAGGGAGGGAGGGGAGGA CGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGG GAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGAA TGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAAGAATGGAGG AAGGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGA ATGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAGGGAAGAATGGAGGGAG GGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGGAGGGAGGGAAGA ATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAGGGAAGAATGGAA GAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGAGTGGAAGAATGGAGAG AGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGTGGAAAAATGGAGGGAG CGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGAATGGAGGGAGGGAAGA ATGCAAGACTGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAAT GGAAGAATGGGACGGAAGGAAGAGTGGAAGAATGGAGGAGGGAGGGAGGG AGGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0078 a0001c0019t0078	a0001c0019t0078g0105 a0001c0019t0078g0105	1	2	0.5000	873	c.415 others(894): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCCT CCCTCCCTCCCTCCTCCATTCTTCCACTCTTCCTTCCGTCCCATTCTTCC ATTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCAT TCTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCG CTCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCT CTCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTC TTCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCAT TCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCC CTCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCAT TCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCCTT CCTCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCA TTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATCCTTCCATCCCTC CCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCG TCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCTCCCTCCCTCCTTCCATCC TCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTC CCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCC CTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCT CCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(866): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	302	0.0033	873	c.513 others(890): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DPEP1_chr16_89608642_89643433	89619161	C C	CTGCTCCC others(866): Show CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCTCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	162	0.0062	873	c.-10 others(892): Show c.-107+5442_-107+5443insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(866): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGCGGAGGGATGGATGGATGGATGGATGGATGGGTG GATGGATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGCGTGGA TGGATGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATG GATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGG TGGATGGATGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATG CAGAGGTGGGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGG TGGGTGGGTGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATG GATGGATGGATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGA TGGACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATG AATGGGGAGGTGGATGGATGGATGGATGGATGAAGGATGGATGGGTGGGG AGGTGGGTGGACGGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGG ACAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGAT GGGGAGGTGGATGGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGG ATGGACAGAAGGATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGAT GGGGAGATGGATGGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGG ATGGATGGATGGATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGAT GGATGGATGGATGGATGGACAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(39): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01516.hp1 HG01517.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02922.hp1 HG03209.hp1 HG03540.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA18944.hp2 NA18950.hp2 NA18973.hp1 NA18973.hp2 NA18990.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0140 a0001c0002t0001g0007 a0001c0002t0001g0011 others(19): Show a0001c0001t0001g0140 a0001c0002t0001g0007 a0001c0002t0001g0011 a0001c0002t0001g0016 a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0002t0001g0050 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0136 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0186 a0001c0008t0001g0041 a0001c0008t0001g0154 a0001c0008t0001g0163	42	143	0.2937	873	c.772 others(888): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTG TCCCACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCAT CCATCCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCC ATCCACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCAT CCATCCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCC ACCCATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCAC CCATCCATCCTTCATCCATCCATCCATCCATCCACCTCCCCATTCATCCA TCCACCCACTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACC CATCCACCCACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCA TCCACCCACCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCC CACCCATCCATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCA TCCATCCATCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATC CACCCACCCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCTCTCCATCCATCCACG CACCCACCCACCCACCTCCCCACCCATCCATCCTTCTATCCATCCACCCA TCCATCCATCCATCCATCCATCCCTCCGCATCCATCCATCCATCCATCTC CCTACCCATTCATCCTTCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EML1_chr14_99788413_99947060	99928191	G G	GTGGTGAT others(866): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGATGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0061	1	241	0.0041	873	c.190 others(892): Show c.1909+7319_1909+7320insATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG ATGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALR1_chr18_77244848_77282900	77252899	C C	CCACCATC others(866): Show CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	268	0.0037	873	c.666 others(890): Show c.666+1690_666+1691insTCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(866): Show CCACCACCACCACCACCACCATCACCACCACCATCACCACCATCACCATC ATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCGCCGC CACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCA CCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCATC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCA CCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACC ATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACC ACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCAT CACCGCCACCACCACCATCACCACCACTACCACCACCACCACCACCATCA CCACCACAACCACCACCACCACCACCATCACCACCACTACCACCACCACC ACCACCATCACCACCACCACTACCATCATCACCACCACCACCACCACCAC CACCATCACCATCACCACCACCACCACCATCACCATCACCACCACCACCA CCATCACCATCATCACCACCATCACCGCCACCATCACCATCACCACCACC ACCACCACCACCACCACCATCACCACCACCACTACCATCATCACCACCAC CACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	296	0.0068	873	c.-25 others(890): Show c.-25+2320_-25+2321insCCATCACCACCACCATCACCACCATCAC CATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCG CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCAC CACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCA TCATCACCGCCACCACCACCATCACCACCACTACCACCACCACCACCACC ATCACCACCACAACCACCACCACCACCACCATCACCACCACTACCACCAC CACCACCACCATCACCACCACCACTACCATCATCACCACCACCACCACCA CCACCACCATCACCATCACCACCACCACCACCATCACCATCACCACCACC ACCACCATCACCATCATCACCACCATCACCGCCACCATCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACTACCATCATCACCA CCACCACCACCACCACCACCATCACCATCACCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(866): Show CTCCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCG CCAATCACACTCTCCAATCCCCATCACACTCCCCACCCCCTCTAATCACA TTCCCCATCCCTCTAATCACACACCCCATCCCCTCTAATCACACTCCCCA CCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCA CACTACCCACCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCA CCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCA CACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCA CCCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATC ACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCACACTC CCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCA ATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACACT CCCCACCCCCTCTAATCACACTCCCCACCCCAATCACACTCCCCACCCCC AATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACAC TCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCCCCATCCCCT CTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACT CCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCACACTCCCCAC CCCCTCTAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAAT CACACTCCCCACCCCCCAATCACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	11	0.0909	873	c.104 others(892): Show c.1048-1427_1048-1426insTGTGATTGGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGT GGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAG GGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGT GTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGG GGGTGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTG GGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGA GTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGA TTGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGGTG GGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTG ATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTG GGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGTAGTGTG ATTGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTG GGGAGTGTGATTAGAGGGGATGGGGTGTGTGATTAGAGGGATGGGGAATG TGATTAGAGGGGGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCG GGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCGTGTGGGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
MAD1L1_chr7_1810795_2237945	1930159	C C	CCCCACTG others(866): Show CCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCC TCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGT CCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGC CACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCC ACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGT CCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCC CCATCCCCCACTGCCACGTCCCCCTCGCCCCGTCCCCGCTGCCACGTCCC CTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCAC AACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCGCTG CCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCC GCTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCG TCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCC CTCGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACG TCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACCG CCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCC CACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	254	0.0039	873	c.180 others(892): Show c.1807+6527_1807+6528insACGGGGCGAGGGGACGTGGCAGTGGG GGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCG GTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACG TGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGCGG GGACGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCA GCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGT GGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGG GACGTGGCAGCGGGGACGGGGCGAGGGGGACGTGGCAGTGGGGGATGGGG CGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGAC GGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGG GGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGC AGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGAC GTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(866): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGG GATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGC GATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGATG GGCAGGGACAGTGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	139	0.0072	873	c.141 others(890): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCACTGTCCCTGCCCATC CCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACCGTCCCTGCCCATCCCCCCCTCACCGTCCTGCCCATCCCCCCCTCA CCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(866): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACTGGGGGGTGGGCAGGG ACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp1 NA20129.hp2 HG00099.hp1 HG01346.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0009g0255 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0009g0255	3	141	0.0213	873	c.141 others(890): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCACCCCCCAGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCT CACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCA CCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(866): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0314 a0001c0004t0003g0314	1	139	0.0072	873	c.141 others(890): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCT CACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCA CCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCGCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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