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
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(584): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGGTGGGGTG GGGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGT GTGTGGGGCTGGGGAGGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGG GGCTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTG GGGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTG CAGGTGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGGAAGG GTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTG GGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGT GGGTGGGGTGGGGGAGGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGA GGGGTGGGAGGGGGGTGGGGGTGGGGGAGGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0140 a0002c0004t0001g0140	1	4	0.2500	591	c.712 others(608): Show c.712-2416_712-2415insCCCACCCCACCCCCTCCCCCACCCCCAC CCCCCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCT CCCCCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCA CCCCACCCCTCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCCC TCCCCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCTC CTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCCACCCCACC CAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCACCCCACCCC ACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCCCACCCCCT CCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCAGCCCCAC CCACACCCTTCCCCCACCCCACCCCCACCCCTCCCCCACCCCACCCCAAC CCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTTCCCCCA CCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCAC CCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(584): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	12	0.0833	591	c.-45 others(612): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCC TCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(584): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	12	0.0833	591	c.-45 others(612): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCC TCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(584): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTAT ACACACCGGAAGAGGATAAGGGGGGACTACTGTAGACACACCGCAAGAGG ATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGA TGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGACTA CTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACGGG ATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGG GACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACAC ACCGGATGAGGACAAGCGGGAACTACTGTATACACACCGGAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	55	0.0182	591	c.891 others(606): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCC CCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCG GTGTGTATACAGTAGTCCCCCTTATCCTCATCTGGTGTGTATACAATAGT CCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCC GGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTA GTCCCCCCTTATCCTCTTGCGGTGTGTCTACAGTAGTCCCCCCTTATCCT CTTCCGGTGTGTATACAGTAGTTCCCGCTTGTCCTCATCCGGTGTGTCTA CAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTT ATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGT GTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCC CCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNTNAP4_chr16_76272401_76565757	76463667	T T	TAAAGATA others(584): Show TAAAGATAACTAACAATTTTTCTTAAGTATACACCTACCCATGTGTCTCT CTGCTAAAGAAAGATGATCAATGCATGTCTGTCCCTTGTATCATATCTTT TGATCTCCTATGTAAATGCTCTCCTGAATTTGGGTTTTATTCTTGCTTCA TGTGTATTATAATTTTACATCTATTAAGGTGTTTCTAAATAATATATTGT AAGAACTTCCACAGTAAAATTCCAACTTCAGGGCTTTCTTAAAAAAAATT ACGAATCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	271	0.0037	591	c.148 others(610): Show c.1483+1701_1483+1702insTCTTGCTTCATGTGTATTATAATTTT ACATCTATTAAGGTGTTTCTAAATAATATATTGTAAGAACTTCCACAGTA AAATTCCAACTTCAGGGCTTTCTTAAAAAAAATTACGAATCTCGGCCGGG CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAACTAACAATTTTTCTTA AGTATACACCTACCCATGTGTCTCTCTGCTAAAGAAAGATGATCAATGCA TGTCTGTCCCTTGTATCATATCTTTTGATCTCCTATGTAAATGCTCTCCT GAATTTGGGTTTTAT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	274	0.0036	591	c.16 others(602): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCATGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	274	0.0036	591	c.16 others(602): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCATGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01243.hp2 others(11): Show HG01168.hp2 HG01169.hp1 HG01243.hp2 HG02257.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0019	14	287	0.0488	591	c.16 others(602): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCATGTGCCACCACGCTGGGCTAATT TTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGTTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	274	0.0036	591	c.16 others(602): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGTTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCTGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	274	0.0036	591	c.16 others(602): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
COX6A1_chr12_120433113_120445730	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(112): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03239.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0003g0001	115	388	0.2964	591	c.16 others(602): Show c.1623_*1624insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	COX6A1	ENSG00000111775.3	transcript	ENST00000229379.3	protein_coding		1431		chr12	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(584): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	74	0.0135	591	c.737 others(606): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(584): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGCGGAGGGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGG GAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAG AGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18977.hp2 NA18989.hp1 NA18970.hp1 NA18977.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0028 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0028	3	166	0.0181	591	c.923 others(610): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCGCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTC CCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCC TCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCC TCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(584): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTACAACCATTACCACCATCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA CTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTTTAACCATTACCACCATTACTACTATAACCACCACCACCAC CACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACCA CCACCATTATAACCATCACCACCACCACTATAACCACCATCATCACCACC ACCACTACCACTACTATAACCATCACCACCATCACTGCTATAACCACCAC CACCACCACTATAACCATCACCACCATCACCACTATAACCACCATCATCA TCACCACCACTACCACTACTATAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	45	0.0222	591	c.724 others(610): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGATGGTGGTGAT GGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTA TAGTAGTGGTAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTG ATGGTTATAATGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGAT TATAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAA TGGTTAAAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTG GTGGTGATGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGAT GGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGG TAATGGTTGTAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGT GATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGG TGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(584): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA TTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTTTAACCATTACCACCATTACTACTATAACCACCACCACCAC CACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACCA CCACCATTATAACCATCACCACCACCACTATAACCACCATCATCACCACC ACCACTACCACTACTATAACCATCACCACCATCACTGCTATAACCACCAC CACCACCACTATAACCATCACCACCATCACCACTATAACCACCATCATCA TCACCACCACTACCACTACTATAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	45	0.0222	591	c.724 others(610): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGATGGTGGTGAT GGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTA TAGTAGTGGTAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTG ATGGTTATAATGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGAT TATAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAA TGGTTAAAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTG GTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGAT GGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGG TGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGT GATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGG TGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGAGGGAG others(584): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	307	0.0033	591	c.-42 others(602): Show c.-4255_-4254insGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(584): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGG AGGGGGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGGGGGAG GAGGGGGGAGGGAAGAGGGGGGAGGAGGGGGGGAGGGGGGGGGAGGGGGG AGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGG AGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGGA GGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGTGGAGGAGGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGGGGAGGGAGGAGGG GGGAGGAGGAGGGGGGGGAGGAGGGGGGAGGAGGAGGGAGGAGGAGGGAG GGGGGAGGAGGAGGGAGGAGGAGGAAGGAGGAAGGGAGGAGGGGGGGGAG AGGAGGAGGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGG AGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGGGAGGAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0054 a0054	a0054c0193 a0054c0193	a0054c0193t0008 a0054c0193t0008	a0054c0193t0008g0107 a0054c0193t0008g0107	1	241	0.0041	591	c.118 others(610): Show c.11806-556_11806-555insCTCCCTCCTCCTCCCCTCCTCCTCCC TCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCCT CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCC CCTCCTCCCTCCTCCTCTCCCCCCCCTCCTCCCTTCCTCCTTCCTCCTCC TCCCTCCTCCTCCCCCCTCCCTCCTCCTCCCTCCTCCTCCCCCCTCCTCC CCCCCCTCCTCCTCCCCCCTCCTCCCTCCCCCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCACCTCCTCCTCCTCCC TCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCCT CCTCCTCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCCTCCTCCTCCTCCCCCCTCCCCCCCCCTCCCCCCCTCCTCCCCCC TCTTCCCTCCCCCCTCCTCCCCCCTCCTCCCTCCTCCCCCCTCCTCCTCC TCCCTCCTCCCCCCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCC TCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATT others(584): Show ATATAATTATATAAAATATATAATATATTATATATTATATATATTATATA AATATATAATATATTATATATATTATATAAATATATAATATATTACATAT AATTATATATTATATATTATATATAATATATAATTATATGTAATATATTA TATATATTATATATTATATATATATTATATATATAATATATTTTATATAT TAATTATATATAATATATATTATATATATAATTTATATATATAAAATATA TTATATATTATATAAATATATATATTTTATATATATAAAATATATATTTT ATAATATATAATATAGAAATATATATTATATAATATATAATTATATATAA TTATATATTATATAATATATATTTCTATATTATATATTTATAATGTATAA TATATAAATATATTATAAATATATATTATATACTATATAATGCATTATAA ATATATTATATTTATATATTATAAATATATTACATATTTATATATTATAT ATATAATATTATATTATATATTATAATATATTTTATAAAATATAATATAT ATATTATTATTATATTTTATAAAATATAATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0209 a0001c0002t0003g0209	1	92	0.0109	591	c.551 others(610): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATAATAATATATATATTATATTTTATAAAATATATTATAATATA TAATATAATATTATATATATAATATATAAATATGTAATATATTTATAATA TATAAATATAATATATTTATAATGCATTATATAGTATATAATATATATTT ATAATATATTTATATATTATACATTATAAATATATAATATAGAAATATAT ATTATATAATATATAATTATATATAATTATATATTATATAATATATATTT CTATATTATATATTATAAAATATATATTTTATATATATAAAATATATATA TTTATATAATATATAATATATTTTATATATATAAATTATATATATAATAT ATATTATATATAATTAATATATAAAATATATTATATATATAATATATATA TAATATATAATATATATAATATATTACATATAATTATATATTATATATAA TATATAATATATAATTATATGTAATATATTATATATTTATATAATATATA TAATATATTATATATTTATATAATATATATAATATATAATATATTATATA TTTTATATAATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EGFR_chr7_55014017_55216628	55167217	C C	CGGTGGTG others(584): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0113 a0001c0001t0023g0113	1	103	0.0097	591	c.188 others(610): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99927967	T T	TGGTGGTG others(584): Show TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0142 a0002c0001t0015g0142	1	286	0.0035	591	c.190 others(610): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FKBP2_chr11_64236095_64249132	64237081	C C	CGAGAGAG others(584): Show CGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGAGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	591	c.-40 others(602): Show c.-4056_-4055insGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGAGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAG	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		4013		chr11	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(584): Show ATGTATATACATATAAATATATATGTATATAAATATATATGTATGTATAT TATATACATATAAATATATATGTATATAATATATATGTATGTATATTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATACATATAAATATATATATTTATATATATAAATATATATAT TTATATGTATATAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATATTTATATATACATATAAATATATAT TTATATACATATAAATATATAATTATATACATATAAATATATATAATTAT ATACATATAAATATATATTTATATACATATAAATATATATATTTATATAC ATATAAATTTATATACATATAAATATATATATTTATATTTATATACATAT AAATATAAATATTTATATTTATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA19043.hp2 NA18906.hp2 NA19043.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0240 a0003c0020t0001g0246 a0003c0020t0001g0240 a0003c0020t0001g0246	2	273	0.0073	591	c.49 others(602): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATATAAATATATATATTTATATGTATATAA ATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATTT ATATGTATATAATTATATATATTTATATGTATATAATTATATATTTATAT GTATATAAATATATATTTATATGTATATATAAATATATATATATTTATAT ATATATAAATATATATATTTATATATATATAAATATATATATATTTATAT ACATATAAATATATATATTTATATATATAAATATATATATTTATATGTAT ATAAATATATATTTATATGTATATATGTATATGTATTATATGTATATAAA TATATATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATT TATATGTATATAATATACATACATATATATTATATACATATATATTTATA TGTATATAATATACATACATATATATTTATATACATATATATTTATATGT ATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	255	0.0039	591	c.-43 others(602): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCATGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0185 a0001c0006t0033g0185	1	255	0.0039	591	c.-43 others(602): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCATGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp1 others(9): Show HG01168.hp2 HG01169.hp2 HG01243.hp1 HG02257.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02886.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0034 a0001c0001t0009 a0001c0001t0017 a0001c0001t0034	a0001c0001t0009g0015 a0001c0001t0009g0022 a0001c0001t0009g0038 others(6): Show a0001c0001t0009g0015 a0001c0001t0009g0022 a0001c0001t0009g0038 a0001c0001t0009g0129 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0017g0015 a0001c0001t0017g0132 a0001c0001t0034g0038	12	266	0.0451	591	c.-43 others(602): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCATGTGCCACCACGCTGGGCTAATT TTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGTTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	255	0.0039	591	c.-43 others(602): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGTTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCTGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	255	0.0039	591	c.-43 others(602): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GATC_chr12_120441444_120468749	120442160	A A	ATTTTTAG others(584): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTTTTGAGATGGAGTCTC ACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAA CCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTG GGACTACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(116): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02965.hp1 HG03239.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0035 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0023 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0005g0007 a0001c0001t0005g0104 a0001c0001t0005g0115 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0012g0001 a0001c0001t0012g0028 a0001c0001t0012g0181 a0001c0001t0015g0001 a0001c0001t0019g0001 a0001c0001t0021g0023 a0001c0001t0021g0183 a0001c0001t0035g0164 a0001c0004t0001g0023	119	373	0.3190	591	c.-43 others(602): Show c.-4321_-4320insTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAAT TATTTGCAATCAAAATTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTC ACACCTGTGATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGG TCAAGGGATCAAGACCATCCTGGACAACATGGTGAAACCTCATCTCTACT GAAAGTACAAAAATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGG AGGCGGAGGTTGCAGTGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGT GACAGAGGAGACTCCGTCTCAAAAAAAAAAAAAAACTTTTTTATTTTTTT TTGAGATGGAGTCTCACTCTGTTGCCCAGGGTACAGTGCAGTGGCATGAT CTCAGTTCACTGCAACCTTCTCCCAGGTTGAAGCGATTCTCCTGCCTCAG CCTCCCGAATAGCTGGGACTACAGGCACGTGCCACCACGCTGGGCTAATT TTTTGTG	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4283		chr12	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(584): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAAAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	104	0.0096	591	c.-37 others(602): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTTTTTT TTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTTTTTT TTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
HERC6_chr4_88373852_88448097	88380374	T T	TATATATA others(584): Show TATATATATAATATATAAATATATATAATATATAAATATATATATAATAT ATAAATATATATAATATATAAATATATATATAATATATAAATATATATAA TATATAAATATATATATAATATATAAATATATATAATATATAAATATATA TATAATATATAAATATATATAATATATAAATATATATATAATATATAAAT ATATATAATATATAAATATATATATAATATATAAATATATATAATATATA AATATATATATAATATATAAATATATATAATATATAAATATATATATAAT ATATAAATATATATAATATATAAATATATATATAATATATAAATATATAT AATATATAAATATATATATAATATATAAATATATATAATATATAAATATA TATAATATATAAATATATATATAATATATAAATTTATATATTTATATAAT ATATAATATATAATAAAATAATATATATAATATATATATAAATTATATAA TTATATAATATAATATATATAAAATAATATATATAAAATAATTATATATA ATATATAAATATATATAATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	87	0.0115	591	c.199 others(608): Show c.199+1263_199+1264insATATATAAATATATATAATATATAAATA TATATATAATATATAAATATATATAATATATAAATATATATATAATATAT AAATATATATAATATATAAATATATATATAATATATAAATATATATAATA TATAAATATATATATAATATATAAATATATATAATATATAAATATATATA TAATATATAAATATATATAATATATAAATATATATATAATATATAAATAT ATATAATATATAAATATATATATAATATATAAATATATATAATATATAAA TATATATATAATATATAAATATATATAATATATAAATATATATATAATAT ATAAATATATATAATATATAAATATATATATAATATATAAATATATATAA TATATAAATATATATAATATATAAATATATATATAATATATAAATTTATA TATTTATATAATATATAATATATAATAAAATAATATATATAATATATATA TAAATTATATAATTATATAATATAATATATATAAAATAATATATATAAAA TAATTATATATAATATATAAATATATATAATATATAAATATATATATAAT ATAAATATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(584): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCACCATCTC CTTCAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTA CCACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACC ACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCAT CTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCA CTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACC ACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCAC CTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCA CCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCCTCC ACCACTACCACCATCTCCTCCACCACCACCACCACCACCACA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	198	0.0051	591	c.804 others(608): Show c.804+4446_804+4447insTGTGGTGGTGGTGGTGGTGGTGGAGGAG ATGGTGGTAGTGGTGGAGGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGT GGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAG TGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTG CTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGAGGTGATGGTGATG GTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGT GGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGA TGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33323052	T T	TATATATA others(584): Show TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATTTATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATACATGGAATATATATATATGGAATATATATACATGGAATATATAT ATATGGAATATATATACATGGAATATATATATGGAATATATATACATGGA ATATATATATGGAATATATATACATGGAATATATATATGGAATATATATA CATGGAATATATATATGGAATATATATACATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	314	0.0032	591	c.-20 others(602): Show c.-2004_-2003insATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATTTATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATACATGGAATATATATATATGGAATATATAT ACATGGAATATATATATATGGAATATATATACATGGAATATATATATGGA ATATATATACATGGAATATATATATGGAATATATATACATGGAATATATA TATGGAATATATATACATGGAATATATATATGGAATATATATACATGGAA TATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1917		chr21	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(584): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTTGAGAC AGTCTCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCA CCGTAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCC AAGTACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTA GTTTTAGTAGAGACAGGGTTTCACCAAATTGGCCAGGCTGGTCTCGAACC CCGGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTG GCCAGGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	104	0.0096	591	c.223 others(608): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAGCCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAACAACACTTCTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCA GGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTG GATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CACCCACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTG CCTGCCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(584): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTTTGAGAC AGTCTCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCA CCGTAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCC AAGTACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTA GTTTTAGTAGAGACAGGGTTTCACCAAATTGGCCAGGCTGGTCTCGAACC CCGGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTG GCCAGGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01243.hp1 HG00597.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0192 a0001c0001t0002g0161 a0001c0001t0002g0192	2	105	0.0190	591	c.223 others(608): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAGCCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAACAACACTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCA GGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTG GATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CACCCACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTG CCTGCCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49746432	G G	GAGGCCGA others(584): Show GAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACGGTGAAACCCTGTCTCTAATAAAAATACAAAAAAATTAGCCAGA CGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAATCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACC ACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAGTGTTGTTTTTTTTTTTTTTTTTGAGAC AGTCTCACTCTGTTGCCCAGGCTACAGTGCAGTGGCACAATCTTGGCTCA CCGTAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTTCC AAGTACCTGGGATTACAGGCATGCACCATCACACCCGGCTAATTTTTGTA GTTTTAGTAGAGACAGGGTTTCACCAAATTGGCCAGGCTGGTCTCGAACC CCGGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTAGGACTG GCCAGGCGTGATGGCTCTCGCCTGTAATCCCAACACTTTGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18949.hp2 HG02074.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0234 a0001c0001t0002g0219 a0001c0001t0002g0234	2	105	0.0190	591	c.223 others(608): Show c.223+1385_223+1386insTCCAAAGTGTTGGGATTACAGGCGAGAG CCATCACGCCTGGCCAGTCCTAGCACTTTGGGAGGCCGAGGCAGGCAGAT CACTTGAGGTCCGGGGTTCGAGACCAGCCTGGCCAATTTGGTGAAACCCT GTCTCTACTAAAACTACAAAAATTAGCCGGGTGTGATGGTGCATGCCTGT AATCCCAGGTACTTGGAAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGA GGTGGAGGTTACGGTGAGCCAAGATTGTGCCACTGCACTGTAGCCTGGGC AACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAACAACACTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCA GGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTG GATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CACCCACCACCACGTCTGGCTAATTTTTTTGTATTTTTATTAGAGACAGG GTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTG CCTGCCTCGGCCT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	2/5			chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(584): Show TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCTCCCCTC CCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCCC CCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCTCCC CCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCT CTCTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCATCCCCCTCC CCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCT CTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0004 a0004	a0004c0046 a0004c0046	a0004c0046t0007 a0004c0046t0007	a0004c0046t0007g0091 a0004c0046t0007g0091	1	144	0.0069	591	c.11 others(612): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCT CCCCCTCCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCC CTCCCCCTCTCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCC CTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCC CTCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCC TCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCC CCTCCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCC CTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCC CCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCC CCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCC CTCCTTCCCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(584): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0296 a0001c0005t0001g0296	1	5	0.2000	591	c.-41 others(606): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCC CCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCA CAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(584): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCCCCCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCG CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCACA GCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18957.hp1 NA19088.hp1 HG02027.hp1 NA18957.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0274 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0274	3	7	0.4286	591	c.-41 others(606): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCCCCCACAGCCACCC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCA CAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429382	G G	GAGGTGGA others(584): Show GAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGGAGAAGG AAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAGAAAG AGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGAAAGG AGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGGGACA AAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAAGGG GAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGGAG GAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGGGA GAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAGG AGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGA AGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGG AGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	383	0.0026	591	c.-46 others(602): Show c.-4682_-4681insTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGC CTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTC TCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCC CCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCC TCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTT TCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCT CCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTC TCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCT CCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCT CCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTT CACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCC TCCACCT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4572		chr19	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(584): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGAGGCGGGGGCGGGAACGGCGCTGCGGGGGGGGCGG GAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACG GCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCG CTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGCGGGAACGGCGCTGCGAGGCGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0250 a0008c0012t0001g0250	1	285	0.0035	591	c.317 others(608): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGAGGCGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGG AACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCG CTGCGGGGGGGGCGGGAACGGCGCTGCGAGGCGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(584): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	77	0.0130	591	c.-27 others(602): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LOC114841035_chr11_64236095_64249132	64237081	C C	CGAGAGAG others(584): Show CGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGAGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	271	0.0037	591	c.-41 others(602): Show c.-4199_-4198insGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGAGGGAGAGAGAGAGAGAGGGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAG	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		4013		chr11	TogoVar
MAN2B2_chr4_6570189_6628362	6579274	C C	CCACCATC others(584): Show CCACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCA CCACCACCACCACCATCACCACCACCACCACCATCACCATCACCACCACT ACCACCATCACCACCATCACCATCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	358	0.0028	591	c.391 others(606): Show c.391+781_391+782insTCACCACCATCACCACCACCACCATCACCA CCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCAC CATCACCACCATCACCACCACCACCACCATCACCACCACCACCACCATCA CCATCACCACCACTACCACCATCACCACCATCACCATCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAT CACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYT1_chr20_64159452_64247253	64176181	T T	TAGCATCT others(584): Show TAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAG CATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAG CATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCAT CTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCAT CTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCAT CTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCAT CTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCAT CTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCAT CTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCAT CTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTT TCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	132	0.0076	591	c.-99 others(610): Show c.-99+11453_-99+11454insTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGCAGCATCTTTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAPG2_chr7_158626169_158709804	158667406	T T	TCCCTTAC others(584): Show TCCCTTACCCACTACTGGGTCCCTCCGGCCGCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	156	0.0064	591	c.148 others(610): Show c.1480-2657_1480-2656insCGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGCCGGAGGGACCC AGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NLGN4X_chrX_5885042_6233867	6161078	T T	TATATAAT others(584): Show TATATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATAT AAAATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTAT ATATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATA AAATATATTATTCTATATATAATATAGGATATAAAATATATTATTCTATA TATAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATAA AATATATTATTCTATATATTATATAGGATATAAAATATATTATTCTATAT ATTATATAGGATATAAAATATATTATTCTATATATTATATAGGATATAAA ATATATTATTCTATATATTATATAGGATATAAAATATATTATTCTATATA TAATATAGGATATAAAATATATTATTCTATATATAATATAGGATATAAAA TATATTATTCTATATATAATATAGGATATATAATATATTATTCTATATAT AATATAGGATATAAAATATATTCTATAAATAATATAGGATATAAAATATA TTATTCTATATATAATATAGGATATAAAATATATTATTCTAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	118	0.0085	591	c.-30 others(610): Show c.-305-9308_-305-9307insGTAGAATAATATATTTTATATCCTAT ATTATATATAGAATAATATATTTTATATCCTATATTATTTATAGAATATA TTTTATATCCTATATTATATATAGAATAATATATTATATATCCTATATTA TATATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATAT TTTATATCCTATATTATATATAGAATAATATATTTTATATCCTATATAAT ATATAGAATAATATATTTTATATCCTATATAATATATAGAATAATATATT TTATATCCTATATAATATATAGAATAATATATTTTATATCCTATATAATA TATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTT TATATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATAT ATAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTTT ATATCCTATATTATATATAGAATAATATATTTTATATCCTATATTATATA TAGAATAATATATTTTATATCCTATATTATATATAGAATAATATATTTTA TATCCTATATTATAT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	1/5			chrX	TogoVar
NME4_chr16_392199_405754	397709	T T	TGAGGGAG others(584): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	591	c.91+ others(604): Show c.91+397_91+398insAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(584): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GACGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGA GGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAG AGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGG AGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGG AGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGG GAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGA GGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0211 a0001c0003t0014g0211	1	142	0.0070	591	c.154 others(608): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCC TTCCTCCTCCCGTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCC TCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(584): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGATGGGGGAGGGGGAGGGGAGGGGGGAGGGAGA AGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAG AGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGG AGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGG AGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGG GAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGA GGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0287 a0001c0004t0001g0287	1	142	0.0070	591	c.154 others(608): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCTCCCCCTCCCCCATCCCC CTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCC TTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCC TCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(584): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGA AGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAG AGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGG AGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGG AGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGG GAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGA GGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01255.hp1 others(23): Show HG00323.hp2 HG01106.hp2 HG01255.hp1 HG01433.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02257.hp1 HG02273.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03130.hp1 HG03492.hp1 HG03654.hp1 NA18973.hp1 NA18980.hp2 NA19001.hp1 NA19009.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0057 a0001c0004t0001 a0001c0004t0020 others(2): Show a0001c0003t0057 a0001c0004t0001 a0001c0004t0020 a0001c0004t0033 a0001c0004t0056	a0001c0003t0057g0256 a0001c0004t0001g0008 a0001c0004t0001g0022 others(22): Show a0001c0003t0057g0256 a0001c0004t0001g0008 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0145 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0004t0001g0263 a0001c0004t0001g0266 a0001c0004t0001g0268 a0001c0004t0001g0269 a0001c0004t0001g0271 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0295 a0001c0004t0001g0299 a0001c0004t0001g0300 a0001c0004t0001g0301 a0001c0004t0020g0261 a0001c0004t0020g0277 a0001c0004t0020g0296 a0001c0004t0033g0270 a0001c0004t0056g0307	26	167	0.1557	591	c.154 others(608): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCC TTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCC TCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar

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