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
PCBP3_chr21_45638725_45947450	45896443	A A	ACTGTAGG others(406): Show ACTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGG GCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGC ACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAAC CGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGC ACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGC GGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGT AGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCAT TGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACGCACTGC CCGGGCCATTGTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01975.hp2 HG02080.hp2 others(6): Show HG00280.hp1 HG01975.hp2 HG02080.hp2 HG02165.hp2 HG03491.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 others(6): Show a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081	9	191	0.0471	413	c.165 others(428): Show c.165+230_165+231insCGGAGATGCACTGCCCGGGCCATTGTCTCT GTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCC ATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACT GCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAG AGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACA TAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGA CATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGG AAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGT CTCTGTAGGAAAGGCGGCCGCGGCACATAGAAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896653	G G	GGAGATGC others(406): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAG AACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACAT GGCACATAGAACCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	193	0.0052	413	c.165 others(428): Show c.165+314_165+315insTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACC GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCA CATAGAACCAGAGATGCACTGCCCGGGCCATTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896875	C C	CGGCACAT others(406): Show CGGCACATAGAACTGGAGACGCACTGCCTGGGCCATTGTCTCTGTAGGAA AGGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCAGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACC GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0147 a0001c0002t0001g0148	2	155	0.0129	413	c.165 others(428): Show c.165+525_165+526insTGGAGACGCACTGCCTGGGCCATTGTCTCT GTAGGAAAGGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCC ATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACT GCCCGGGCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCAG AGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACA TAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGA CATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGG AAAGGCGGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGT CTCTGTAGGAAAGGCAGACATGGCACATAGAAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCG others(406): Show GGGGGGCGGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGGGCGGGGG GCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGGGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGGGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGG GCGGGGGGCGGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCGG GCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	299	0.0033	413	c.143 others(428): Show c.143-324_143-323insCGGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCGGGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCGGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCGGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGCGGGCGGGGGGCGGGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGCGGGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGCGGGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(406): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0155 a0002c0001t0001g0155	1	11	0.0909	413	c.-10 others(430): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(406): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGAAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0026 a0026	a0026c0049 a0026c0049	a0026c0049t0001 a0026c0049t0001	a0026c0049t0001g0035 a0026c0049t0001g0035	1	108	0.0093	413	c.575 others(434): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCTTC CCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(406): Show CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCT CCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCT CCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAG CAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTG ACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCA GGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03239.hp1 HG00280.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0032 a0001c0003t0001g0139 a0001c0002t0002g0032 a0001c0003t0001g0139	2	211	0.0095	413	c.335 others(432): Show c.335-28634_335-28633insTCAGCAGGCCCCTCCGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAG CCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTC ACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCC ACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCG AGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(406): Show GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGGGTCACGGC TATAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0196 a0001c0003t0001g0196	1	163	0.0061	413	c.335 others(432): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGGGTCACGGCTATAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	161350871	T T	TTTTTATA others(406): Show TTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATATTT AAAATATATATATTTTTATATATTTATATTTAAAATATATATATTTTTAT ATATTTATATTTAAAATATATATATTTTTATATATTTATATTTAAAATAT ATATATTTTTATATATTTATATTTAAAATATATATATTTTTATATATTTA TATTTAAAATATATATATTTTTATATATTTATATTTAAAATATATATATT TTTATATATTTATATTTAAAATATATATATTTTTATATATTTATATTTAA AATATATATATTTTTATATATTTATATTTAAAATATATATATTTTTATAT ATTTATATTTAAAATATATATAAATATATTTTATATATTTATATTTAAAA TATATATAAATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	17	0.0588	413	c.128 others(430): Show c.1286-661_1286-660insTATATTTATATATATTTTAAATATAAAT ATATAAAATATATTTATATATATTTTAAATATAAATATATAAAAATATAT ATATTTTAAATATAAATATATAAAAATATATATATTTTAAATATAAATAT ATAAAAATATATATATTTTAAATATAAATATATAAAAATATATATATTTT AAATATAAATATATAAAAATATATATATTTTAAATATAAATATATAAAAA TATATATATTTTAAATATAAATATATAAAAATATATATATTTTAAATATA AATATATAAAAATATATATATTTTAAATATAAATATATAAAAATATATAT ATTTTAAATATAAATATATAAAAATATATATATTTTAAATATAAATATAT AAAAATATATATATTTTAAATATAAATATATAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRPF31_chr19_54110754_54136713	54133748	T T	TTCTCTCC others(406): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC CCTCTGTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	109	0.0092	413	c.23 others(424): Show c.2316_*2317insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTGTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2036		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133748	T T	TTCTCTCC others(406): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTC CCTCTGTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	109	0.0092	413	c.23 others(424): Show c.2316_*2317insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCT CCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2036		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504703	C C	CGCCTCAC others(406): Show CGCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCCTCACCT CTTCCTGCACCCTCCTCACCTCCTCCTGCACCCCCATCTCCTCCTGTACC CCCCTCACCTCCTCCTGCACCCCCCTTACCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCCTCACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCC CCTCACCTCCTCCTGCACCCCCCTTACCTCCTGTACCCCCTCACCTCCTC CTGTACCGCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCC TCACCTCTTCCTGCACCCTCCTCACCTCCTCCTGCACCCCCATCTCCTCC TGTACCCCCTCACCTCCTCCTGCACCCCCCTTACCTCCTGTACCCCCTCA CCTCCTCCTGTACT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	242	0.0041	413	c.139 others(430): Show c.1396-709_1396-708insCCTGCACCCCCCTTACCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCTTCACTTCCT CCTGTACCCCCTCACCTCCTCCTGCACCCCCCTTACCTCCTGTACCCCCT CACCTCCTCCTGTACCGCCTCACCTCCTCCTATACCCCCTCACCTCCTCC TATACCCCCTCACCTCTTCCTGCACCCTCCTCACCTCCTCCTGCACCCCC ATCTCCTCCTGTACCCCCTCACCTCCTCCTGCACCCCCCTTACCTCCTGT ACCCCCTCACCTCCTCCTGTACTGCCTCACCTCCTCCTATACCCCCTCAC CTCCTCCTATACCCCCTCACCTCTTCCTGCACCCTCCTCACCTCCTCCTG CACCCCCATCTCCTCCTGTACCCCCCTCACCTCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(406): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAG GAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGG GAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGAGGAGGGGAAGGG AGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAG GGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	30	0.0333	413	c.36 others(424): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGG GGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGGAGGAGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGG GAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGG GGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAA GGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGAGGAGGGGAAGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(406): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGG CGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCG GGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGG GGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCCCCGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0015 a0003c0003t0002g0015	1	24	0.0417	413	c.72+ others(424): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCC CCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGGGG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCC GGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCCCCGGCCCGGCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(406): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATATTAATATATATTTAAAATATATATTTAAATATATATTA ATATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTAT ATTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATAT ATATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATA TATTTATATATATATTTTTAAATATATATATATATTTATATATATATTTT TAAATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18947.hp1 NA19054.hp1 others(1): Show NA18939.hp2 NA18947.hp1 NA19054.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	4	367	0.0109	413	c.182 others(430): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATATTAATATATATTTAAAA TATATATTTAAATATATATTAATATATATATTTAAAGATATATATTAAAT TATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTA AATATACATATTTAAAAATATATATATTTAAATATATATATTTTTAATAT ATATATTTTTAAATATATATATATTTATATATATATTTTTAAATATATAT ATATATTTATATATATATTTTTAAATATATATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(406): Show GGAGGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGGAGGAGGA GGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGA GGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGA GGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGGAGGAGGGAGGGGGAGG AGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAG AAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGA GAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGG AGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAG GAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0368 a0001c0001t0005g0368	1	2	0.5000	413	c.807 others(430): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCTCCC CCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCT CCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCCTCC CCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SARDH_chr9_133658560_133743352	133668470	T T	TCCCCTCA others(406): Show TCCCCTCACCCTCTCTCTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTC TCCCCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCC TCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCT CACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCC TCACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCCTCGCC CTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCTCCCTCACCCTCCCTCTCC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCC CTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCC TCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	253	0.0040	413	c.249 others(432): Show c.2496-1601_2496-1600insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGGGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGA TGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGG TGAGGGAGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGA GGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGGAGAGGGAG GGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAG GGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGAGA GGGAGGGTGAGGGTGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGCGA GGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27919296	A A	AGGAGGAG others(406): Show AGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGG GAGGAGGAGAAGAGAAGGGAGGAGGAGAGAGCGCCGCGGCTTCGTATCTC CGTTAGGAGGCGAGCGCCGGTGAGGAGAAGGACGCGTCTGCGTCGTCTTG TCTCCGTTATTCTTCTTCTCCTTCTCTTCTGTCTTCTTCTCCTTCCGCCC CTGTCGGCGCCGGCCGCCGGTGCTGGGGCGCGGGCAGAGGAAGAAGGGGA TGGGAAGCGGTTCCCTCTTGCTTGCGGTGCTTGGTCCACGCTGCCTCGCT CCTGCGTGCCTTCGTTCCGCTCCTCGGCGGCGAGGACGAGGAGGAAGAGA CGGGGGGAGGCTGAGCCCGCTTCGCCGGTCCGCGTCCGCGTATGCAGGCT GCGGCAGGCTGAGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0130 a0001c0003t0026g0130	1	312	0.0032	413	c.916 others(430): Show c.916+2274_916+2275insACTCAGCCTGCCGCAGCCTGCATACGCG GACGCGGACCGGCGAAGCGGGCTCAGCCTCCCCCCGTCTCTTCCTCCTCG TCCTCGCCGCCGAGGAGCGGAACGAAGGCACGCAGGAGCGAGGCAGCGTG GACCAAGCACCGCAAGCAAGAGGGAACCGCTTCCCATCCCCTTCTTCCTC TGCCCGCGCCCCAGCACCGGCGGCCGGCGCCGACAGGGGCGGAAGGAGAA GAAGACAGAAGAGAAGGAGAAGAAGAATAACGGAGACAAGACGACGCAGA CGCGTCCTTCTCCTCACCGGCGCTCGCCTCCTAACGGAGATACGAAGCCG CGGCGCTCTCTCCTCCTCCCTTCTCTTCTCCTCCTCCCTTCTCTCCTCCT CCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(406): Show GGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGGGTTGAGTGAGGGGG GTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTG AGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGGGGG GTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0006 a0011c0022t0006	a0011c0022t0006g0131 a0011c0022t0006g0131	1	164	0.0061	413	c.464 others(426): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGG TTGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGG GTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGG GTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(406): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCC CGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCG CCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGT CGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0047 a0002c0002t0003g0047	1	203	0.0049	413	c.284 others(432): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SERINC2_chr1_31408213_31439678	31431922	T T	TAGGGTGG others(406): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGATGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATA GGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGAGAGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0135 a0001c0001t0004g0136	2	328	0.0061	413	c.101 others(432): Show c.1014-1029_1014-1028insATAGGGTGGATAGGGTGGACAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGG GTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGAGAGGTGGATAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIK3_chr11_116838402_117103428	116947170	T T	TATTATTT others(406): Show TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATAATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATATATAATATATAATATATAAATTATTATTTATAT ATAATATATAATATATAAATTATTATTTATATATAATATATAATATATAA ATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATAA TATATTATATATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0049 a0001c0002t0004g0049	1	344	0.0029	413	c.454 others(430): Show c.454+6873_454+6874insTTATATATAATATATTATATATAAATAA TAATTTATATATAATATATTATATATAAATAATAATTTATATATTATATA TTATATATAAATAATAATTTATATATTATATATTATATATAAATAATAAT TTATATATTATATATTATATATAAATAATAATTTATATATTATATATTAT ATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATATAAATAATAATTTATATATTATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947184	A A	AATATATA others(406): Show AATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATAATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATATATAATATATAATATATAAATTATTATTTATAT ATAATATATTATATATAAATTATTATTTATATATAATATATTATATATAA ATTATTTATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0048 a0001c0002t0004g0050 a0001c0002t0004g0048 a0001c0002t0004g0050	2	350	0.0057	413	c.454 others(430): Show c.454+6859_454+6860insAATATATAAATAATTTATATATAATATA TTATATATAAATAATAATTTATATATAATATATTATATATAAATAATAAT TTATATATTATATATTATATATAAATAATAATTTATATATTATATATTAT ATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATATAAATAATAATTTATATATTATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAATAATTTATATATTATA TATTATATATAAATAATAATTTATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947184	A A	AATATATA others(406): Show AATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATTATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATGTATAATATATAATATATAAATTATTATTTATGT ATAATATATTATATATAAATTATTATTTATATATAATATATAATATATAA ATTATTTATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19043.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0045 a0001c0002t0004g0046	2	350	0.0057	413	c.454 others(430): Show c.454+6859_454+6860insAATATATAAATAATTTATATATTATATA TTATATATAAATAATAATTTATATATAATATATTATACATAAATAATAAT TTATATATTATATATTATACATAAATAATAATTTATATATTATATATTAT ATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATATAAATAATAATTTATATATAATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAATAATTTATATATTATA TATTATATATAAATAATAATTTATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947184	A A	AATATATA others(406): Show AATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATTATATATAAATTATTATTTATATATAATATATTATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATGTATAATATATAATATATAAATTATTATTTATGT ATAATATATAATATATAAATTATTATTTATATATAATATATTATATATAA ATTATTTATATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02615.hp1 HG03130.hp2 others(1): Show HG01074.hp1 HG02615.hp1 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0011 a0001c0002t0004 a0001c0002t0011	a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0190 others(1): Show a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0190 a0001c0002t0011g0056	4	352	0.0114	413	c.454 others(430): Show c.454+6859_454+6860insAATATATAAATAATTTATATATAATATA TTATATATAAATAATAATTTATATATTATATATTATACATAAATAATAAT TTATATATTATATATTATACATAAATAATAATTTATATATTATATATTAT ATATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT AATATATTATATATAAATAATAATTTATATATAATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAATAATTTATATATTATA TATTATATATAAATAATAATTTATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79919501	T T	TGAGGAGA others(406): Show TGAGGAGAGACAGGAACCAAGGGAGAGGTCAAGCTCAGTGGGGAGAGATG GAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGATGGAACCGACTGAGA GGTCAAGGTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAAGGTCAGT GGGGAGAGACGGAACTGAGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGA ACCGACTGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGTGAGAGG TCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGAG GAGGAGAGACGGGAACTGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAG GAACCGAGGGAGAGGTCAAGCTCAGTGGGGAGAGACGGAACCGAGTGAGA GGTCAAGGTCAGTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	348	0.0029	413	c.392 others(428): Show c.392-102_392-101insCACTGACCTTGACCTCTCACTCGGTTCCGT CTCTCCCCACTGAGCTTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTG ACCCTGACCTCTCCCTCAGTTCCCGTCTCTCCTCCTCTGACCTTGACCTC TCCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCACTCGGTTCC GTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCTCTCCCCACT GAGCTTGACCTCTCCCTCAGTTCCGTCTCTCCCCACTGACCTTGACCTCT CACTCGGTTCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCAT CTCTCCCCACTGACCTTGACCTCTCCCTCGGTTCCATCTCTCCCCACTGA GCTTGACCTCTCCCTTGGTTCCTGTCTCTCCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SMOC2_chr6_168436184_168672992	168596484	A A	AGGGTGCT others(406): Show AGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGC TGAGTTTCCCGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACA CGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCC ATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGA ACAGGTGCTATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGA GAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGT GCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGT TTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCTATGTGAACACGGCA GTGATGAGTTTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	173	0.0058	413	c.638 others(430): Show c.638-2258_638-2257insAATGAACAGGTGCCATGTGAACACGGCA GTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTG AACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGG TGCTATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGA ATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGC TGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCT GGGTGCTGCTGGAGAGGAATGAACAGGTGCTATGTGAACACGGCAGTGAT GAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACAC GGCAGTGCTGAGTTTCCCGGGTGCTGCTGGAGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
STOML3_chr13_38960925_38995831	38988027	T T	TATATTTT others(406): Show TATATTTTATATCATATATTTTATATGTTATATTTTATATCATATATTTT ATATCATATATTTTATATATAATATATTATATTTTATATAAAATATATTA TATTTTATATCATATATTTTATATATAATATATTATATTTTATATCATAT ATTTTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATA TATGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATAT CATATATTTTATATAAAATATATGATATTTTATATCATATATTTTATATA AAATATATGATATTTTATATCATATATTTTATATAAAATATATGATATTT TATATCATATATTTTATATAAAATATATGATATTTTATATCATATATTTT ATATAAAATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0247 a0001c0001t0007g0247	1	387	0.0026	413	c.52+ others(428): Show c.52+2642_52+2643insCATATATTTTATATAAAATATATGATATAA AATATCATATATTTTATATAAAATATATGATATAAAATATCATATATTTT ATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATATGA TATAAAATATCATATATTTTATATAAAATATATGATATAAAATATCATAT ATTTTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATA TATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATAT AATATATTATATATAAAATATATGATATAAAATATAATATATTTTATATA AAATATAATATATTATATATAAAATATATGATATAAAATATATGATATAA AATATAACATATAAAATATATGATATAAAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(406): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAG GGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGG GAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGGGGGGGGA GAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0035 a0001c0004t0033g0035	1	170	0.0059	413	c.-18 others(432): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CCCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCCTCTCTCC CCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCCCCCCTCCCTCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTC CCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(406): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGTGTGGGGGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCG GGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGG GGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0057 a0001c0001t0010g0057	1	72	0.0139	413	c.309 others(432): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCCCA CACCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCC CCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACC CTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCG CCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCC TTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCAC CCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(406): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGGAGGGAGGGCGTGGGGGGGGGAGGGAGGGCGTGGGGGGAGG GAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGTGG GAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGG GCGGCGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	72	0.0139	413	c.309 others(432): Show c.3091-8707_3091-8706insCTCCCCCCCGCCGCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCACCGCCCCCT CCCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCACG CCCTCCCTCCCCCCCCCACGCCCTCCCTCCCCCCCCCACGCCCTCCCTCC CCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACC CTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCG CCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCC TTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCAC CCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(406): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGGGC GTGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGCGTGGGGGGGGAG GGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCG GGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGG GGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	72	0.0139	413	c.309 others(432): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCTCCCGCCGCCCCCTCCCTCCCCCCACACCCTCCCTCCCCCCCCAC GCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCCC CCCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACC CTCCCTCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCG CCGCCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCC TTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCAC CCTCCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TCEA3_chr1_23375909_23429748	23392405	T T	TCATACAC others(406): Show TCATACACACACACTCCACACATCATACACACACACTCCACACATCATAC ATAAAACACACTCCACACATCATACACACCACACACACTCCACACATCGT ACACAAAACACACTCCACACATCATACACAAAACACACTCCACACATCAT ACACACCACATACACTCCACACATCATACACACACACTCCACACATCATA CACACACACTCCACACGTCATACACACACACACACTCCACACATCATACA CAATACACACTCCACACATCATACACAATACACACTCCACACATCATACA CACACACTCCACACATCATACACAATACACACTCCACACATCATACACAA AACACACTCCACACATCATACACACACACTCCACACATCATGCACAATAC ACACACACTCCACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	6	0.1667	413	c.819 others(430): Show c.819+1473_819+1474insTGTGGAGTGTGTGTGTATTGTGCATGAT GTGTGGAGTGTGTGTGTATGATGTGTGGAGTGTGTTTTGTGTATGATGTG TGGAGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTGG AGTGTGTATTGTGTATGATGTGTGGAGTGTGTATTGTGTATGATGTGTGG AGTGTGTGTGTGTGTATGACGTGTGGAGTGTGTGTGTATGATGTGTGGAG TGTGTGTGTATGATGTGTGGAGTGTATGTGGTGTGTATGATGTGTGGAGT GTGTTTTGTGTATGATGTGTGGAGTGTGTTTTGTGTACGATGTGTGGAGT GTGTGTGGTGTGTATGATGTGTGGAGTGTGTTTTATGTATGATGTGTGGA GTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628391	C C	CGGGGTGA others(406): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGAAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0086 a0001c0007t0086	a0001c0007t0086g0297 a0001c0007t0086g0297	1	275	0.0036	413	c.299 others(428): Show c.299-966_299-965insCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCTGTGAGT TCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTG AGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(406): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	365	0.0027	413	c.228 others(430): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTG GGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273345	C C	CCGGGACC others(406): Show CCGGGACCAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACC ACACATCAGACCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	369	0.0027	413	c.228 others(432): Show c.2287-1066_2287-1065insAGGGTCTGATGTGTGGTGACTGTGGA TGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTTGGTCCCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376879	C C	CCCCCACC others(406): Show CCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTG TGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTC TCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	325	0.0031	413	c.-91 others(422): Show c.-910_-909insCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAG GCACGGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		854		chr19	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(406): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA GGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGAACGAAAGAGTGA GGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGAGAGGA AGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCG AGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAAGGAGGA AGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAA GGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAG CGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	87	0.0115	413	c.30+ others(430): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGG AACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGG AAGGGAGAGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAG GAAGGAAAGAGCGAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAG GAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGA AGGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGG GAGAAAAGAAGAGCGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TTLL8_chr22_50013575_50063298	50057640	T T	TGGGGGAT others(406): Show TGGGGGATCAGGTCTGGATTGTGGGTCAGGTCTGGGTTGGGATCAGGTCT GGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAG GTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGG TCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGG GGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGG TTGGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGGTCT GGGTTGGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGG TCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGAGCG GAAGGTCTGGGTTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18969.hp1 HG02004.hp2 NA18969.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0002 a0002c0002t0001 a0005c0005t0002	a0002c0002t0001g0212 a0005c0005t0002g0213 a0002c0002t0001g0212 a0005c0005t0002g0213	2	121	0.0165	413	c.-39 others(428): Show c.-39+513_-39+514insCAACCCAGACCTTCCGCTCAACCCAGACCT GACCCCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCAACCCAG ACCTGACCCCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCAACC CAGACCTGACCCCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCC AACCCAGACCTGACCCCCCAACCCAGACCTGACCCCAACCCAGACCTGAC CCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCT GACCCCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAG ACCTGACCCCCAACCCAGACCTGACCCCCAACCCAGACCTGATCCCAACC CAGACCTGACCCACAATCCAGACCTGATCCCCC	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	1/13			chr22	TogoVar
VCX2_chrX_8164944_8176267	8169240	C C	CCCTCCCT others(406): Show CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACCACCTATTCCTTCCTTCTTTCCTTTCTCCC TCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCCTCCCC ACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0012 a0004c0004t0003g0012	1	108	0.0093	413	c.79 others(422): Show c.791_*792insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGAAAGGAAAGAAGGAAGG AATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		703		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533146	A A	ACACCTCT others(406): Show ACACCTCTTCCTTCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTT CCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCCC ACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCT CCCTCCCCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0008 a0008c0008t0001g0008	1	47	0.0213	413	c.59 others(422): Show c.598_*599insGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGAAGGAAGAGGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		471		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466755	G G	GGGGAGGG others(406): Show GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0004 a0003c0003t0008g0004	1	226	0.0044	413	c.37 others(422): Show c.372_*373insGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		246		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159024640	A A	ACATCAGG others(406): Show ACATCAGGGCGCACCGCGATCAGGTGTGTGGACAGTTGCAGGCACGCAGC GGTCTCCCAGCATCAGGGCACACCGCGATCAGGTGTGTGGACAGTCGCAG GCACGAAGCGGTCTCCCAGCATCAGGGCACACCGCGATCAGGTGTGTGGA CAGTCGCAGGCACGCAGCGGTCCTGCAGCAGCAGGGCGCACCGCGATCAG GTGTGTGGACAGTTGCAGGCACGCAGCGGTCTCCCAGCATCAGGGCACAC CGCGATCAGGTGTGTGGACAGTCGCAGGCACGAAGCGGTCCTGCAGCAGC AGGGCGCACCGCGATCAGGTGTGTGGACAGTTGCAGGCACGCAGCGGTCT CCCAGCATCAGGGCACACCGCGATCAGGTGTGTGGACAGTCGCAGGCACG AAGCGGTCTCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG01884.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0306 a0001c0004t0004g0307 a0001c0004t0004g0306 a0001c0004t0004g0307	2	295	0.0068	413	c.59 others(424): Show c.5975_*5976insCTGGGAGACCGCTTCGTGCCTGCGACTGTCCACA CACCTGATCGCGGTGTGCCCTGATGCTGGGAGACCGCTGCGTGCCTGCAA CTGTCCACACACCTGATCGCGGTGCGCCCTGCTGCTGCAGGACCGCTTCG TGCCTGCGACTGTCCACACACCTGATCGCGGTGTGCCCTGATGCTGGGAG ACCGCTGCGTGCCTGCAACTGTCCACACACCTGATCGCGGTGCGCCCTGC TGCTGCAGGACCGCTGCGTGCCTGCGACTGTCCACACACCTGATCGCGGT GTGCCCTGATGCTGGGAGACCGCTTCGTGCCTGCGACTGTCCACACACCT GATCGCGGTGTGCCCTGATGCTGGGAGACCGCTGCGTGCCTGCAACTGTC CACACACCTGATCGCGGTGCGCCCTGATG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding		3534		chr7	TogoVar
WDR64_chr1_241647281_241807777	241675052	T T	TTCCTGCC others(406): Show TTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCC TCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT GCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTCCCTCC TTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCT CCCTCCCTCCTTCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	202	0.0050	413	c.483 others(428): Show c.483+306_483+307insCCTGCCTCCCTCCCTCCTTCCTGCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCC CTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT CCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCT CCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTC CCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR7_chr18_56646359_57034792	57024555	G G	GCTATGAT others(406): Show GCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTAT TCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAG GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAA TAGGGATATGTGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	113	0.0088	413	c.427 others(432): Show c.4270-2428_4270-2427insCAGGATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTA TGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGG AATAGGGATATGTGAACTATGATAGTTATGTCCCTTA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024856	G G	GATTTCAC others(406): Show GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTG AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTT ATGTCCCTTATAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0045 a0001c0001t0017g0045	1	72	0.0139	413	c.427 others(432): Show c.4270-2125_4270-2124insACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTG AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WWOX_chr16_78094654_79217667	78193549	T T	TCAGAGTC others(406): Show TCAGAGTCCCTGGAAGAGGTATCCAGATTTATGGCTCATCCCAGACTTCT CTAATCGAGGCTGTTTTCCCTCTAGATGCCTTAGTCAATCAGTAATTAAT TTGAAATCCAAAGTTTCATTAAGTGTTATCGAGTTCTCGCACACTGACAT TTGTAGTGCTATATTTCTTTAAAATCACAAACCATTTTTCATACTGTCGT TTGCATATTTTAACAGAAAAGATTGTGGTTCTGGTGTGAATGACCCAGTT TTCTGGATATATTTACTTGAATGTCATAAACTTATTATCCTTCTCTTCCA CTTCATTGCTTTTCTGCTTTTCTGAAGTATTTTGAAATCATATTTAAAAC ATCATTATAGCCTCTGAATTCTATCTAAAGCATAACTAAACTTTACCGGG TGACTATTTTCAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp2 HG01884.hp1 HG03579.hp2	a0003 a0011 a0003 a0011	a0003c0004 a0011c0016 a0003c0004 a0011c0016	a0003c0004t0004 a0011c0016t0014 a0003c0004t0004 a0011c0016t0014	a0003c0004t0004g0013 a0011c0016t0014g0136 a0003c0004t0004g0013 a0011c0016t0014g0136	2	30	0.0667	413	c.516 others(432): Show c.516+29260_516+29261insCAGAGTCCCTGGAAGAGGTATCCAGA TTTATGGCTCATCCCAGACTTCTCTAATCGAGGCTGTTTTCCCTCTAGAT GCCTTAGTCAATCAGTAATTAATTTGAAATCCAAAGTTTCATTAAGTGTT ATCGAGTTCTCGCACACTGACATTTGTAGTGCTATATTTCTTTAAAATCA CAAACCATTTTTCATACTGTCGTTTGCATATTTTAACAGAAAAGATTGTG GTTCTGGTGTGAATGACCCAGTTTTCTGGATATATTTACTTGAATGTCAT AAACTTATTATCCTTCTCTTCCACTTCATTGCTTTTCTGCTTTTCTGAAG TATTTTGAAATCATATTTAAAACATCATTATAGCCTCTGAATTCTATCTA AAGCATAACTAAACTTTACCGGGTGACTATTTTCAAA	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8			chr16	TogoVar
WWOX_chr16_78094654_79217667	78193549	T T	TCAGAGTC others(406): Show TCAGAGTCCCTGGAAGAGGTATCCAGATTTATGGCTCATCCCAGACTTCT CTAATCGAGGCTGTTTTCCCTCTAGATGCCTTAGTCAATCAGTAATTAAT TTGAAATCCAAAGTTTCATTAAGTGTTATTGAGTTCTCGCACACTGACAT TTGTAGTGCTATATTTCTTTAAAATCACAAACCATTTTTCATACTGTCGT TTGCATATTTTAACAGAAAAGATTGTGGTTCTGGTGTGAATGACCCAGTT TTCTGGATATATTTACTTGAATGTCATAAACTTATTATCCTTCTCTTCCA CTTCATTGCTTTTCTGCTTTTCTGAAGTATTTTGAAATCATATTTAAAAC ATCATTATAGCCTCTGAATTCTATCTAAAGCATAACTAAACTTTACCGGG TGACTATTTTCAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG00741.hp2 others(34): Show HG00438.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01258.hp2 HG01891.hp2 HG02040.hp1 HG02109.hp1 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03942.hp2 HG04115.hp2 NA18522.hp1 NA18747.hp2 NA18957.hp1 NA18969.hp2 NA18982.hp2 NA18998.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0014 a0019	a0001c0001 a0001c0007 a0001c0019 others(10): Show a0001c0001 a0001c0007 a0001c0019 a0002c0002 a0002c0022 a0003c0004 a0004c0006 a0005c0003 a0006c0005 a0007c0008 a0008c0009 a0014c0018 a0019c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0007t0007 a0001c0007t0008 a0001c0007t0009 a0001c0019t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0022t0007 a0003c0004t0003 a0003c0004t0004 a0004c0006t0001 a0005c0003t0001 a0005c0003t0015 a0006c0005t0003 a0007c0008t0004 a0007c0008t0020 a0007c0008t0026 a0008c0009t0001 a0008c0009t0007 a0014c0018t0002 a0019c0020t0002	a0001c0001t0001g0002 a0001c0001t0001g0093 a0001c0001t0001g0127 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0093 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0002g0080 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0004g0121 a0001c0001t0008g0086 a0001c0001t0012g0141 a0001c0001t0013g0102 a0001c0007t0007g0110 a0001c0007t0008g0108 a0001c0007t0009g0111 a0001c0019t0005g0125 a0002c0002t0001g0046 a0002c0002t0001g0092 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0007g0047 a0002c0022t0007g0109 a0003c0004t0003g0101 a0003c0004t0004g0055 a0004c0006t0001g0132 a0005c0003t0001g0008 a0005c0003t0015g0135 a0006c0005t0003g0061 a0007c0008t0004g0057 a0007c0008t0020g0058 a0007c0008t0026g0040 a0008c0009t0001g0104 a0008c0009t0007g0005 a0014c0018t0002g0131 a0019c0020t0002g0043	37	65	0.5692	413	c.516 others(432): Show c.516+29260_516+29261insCAGAGTCCCTGGAAGAGGTATCCAGA TTTATGGCTCATCCCAGACTTCTCTAATCGAGGCTGTTTTCCCTCTAGAT GCCTTAGTCAATCAGTAATTAATTTGAAATCCAAAGTTTCATTAAGTGTT ATTGAGTTCTCGCACACTGACATTTGTAGTGCTATATTTCTTTAAAATCA CAAACCATTTTTCATACTGTCGTTTGCATATTTTAACAGAAAAGATTGTG GTTCTGGTGTGAATGACCCAGTTTTCTGGATATATTTACTTGAATGTCAT AAACTTATTATCCTTCTCTTCCACTTCATTGCTTTTCTGCTTTTCTGAAG TATTTTGAAATCATATTTAAAACATCATTATAGCCTCTGAATTCTATCTA AAGCATAACTAAACTTTACCGGGTGACTATTTTCAAA	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8			chr16	TogoVar
WWOX_chr16_78094654_79217667	78193549	T T	TCAGAGTC others(406): Show TCAGAGTCCCTGGAAGAGGTATCCAGATTTATGGCTCATCCCAGACTTCT CTAATCGAGGCTGTTTTCCCTCTAGATGCCTTAGTCAATCAGTAATTAAT TTGAAATCCAAAGTTTCATTAAGTGTTATTGAGTTCTCGCACACTGACAT TTGTAGTGCTATATTTCTTTAAAATCACAAACCATTTTTCATACTGTCGT TTGCATATTTTAACAGAAAAGATTGTGGTTCTGGTGTGAATGACCCAGTT TTCTGGATATATTTACTTGAATGTCATAAACTTATTATCCTTCTCTTCCA CTTCATTGCTTTTCTGCTTTTCTGAAGTATTTTGAAATCATATTTAAAAC ATCATTATAGCCTCTGAATTCTATCTAAAGCATAACTAAACTTTACCGGG TGACTGTTTTCAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01074.hp1 others(51): Show HG00609.hp2 HG00738.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18969.hp1 NA18982.hp1 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19066.hp2 NA19240.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0015 a0016 a0017 a0018	a0001c0001 a0002c0002 a0003c0004 others(12): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006 a0004c0023 a0005c0003 a0006c0005 a0008c0024 a0009c0010 a0010c0021 a0012c0013 a0015c0025 a0016c0015 a0017c0012 a0018c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0003c0004t0004 a0004c0006t0001 a0004c0006t0004 a0004c0023t0001 a0005c0003t0001 a0005c0003t0008 a0005c0003t0016 a0006c0005t0001 a0006c0005t0003 a0006c0005t0009 a0006c0005t0024 a0008c0024t0003 a0009c0010t0001 a0010c0021t0002 a0012c0013t0001 a0015c0025t0001 a0016c0015t0001 a0017c0012t0004 a0018c0011t0011	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0021 others(51): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0119 a0001c0001t0001g0140 a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0123 a0001c0001t0003g0075 a0001c0001t0003g0106 a0001c0001t0004g0053 a0001c0001t0004g0084 a0001c0001t0004g0112 a0001c0001t0005g0027 a0001c0001t0005g0034 a0001c0001t0005g0090 a0001c0001t0005g0117 a0001c0001t0006g0070 a0001c0001t0006g0078 a0001c0001t0021g0006 a0001c0001t0022g0088 a0001c0001t0023g0028 a0001c0001t0027g0096 a0002c0002t0001g0018 a0002c0002t0001g0039 a0002c0002t0001g0129 a0002c0002t0002g0099 a0002c0002t0002g0122 a0003c0004t0001g0036 a0003c0004t0004g0091 a0004c0006t0001g0019 a0004c0006t0004g0082 a0004c0023t0001g0001 a0005c0003t0001g0035 a0005c0003t0008g0100 a0005c0003t0016g0081 a0006c0005t0001g0059 a0006c0005t0003g0107 a0006c0005t0009g0014 a0006c0005t0024g0113 a0008c0024t0003g0105 a0009c0010t0001g0126 a0010c0021t0002g0089 a0012c0013t0001g0124 a0015c0025t0001g0007 a0016c0015t0001g0094 a0017c0012t0004g0087 a0018c0011t0011g0064	54	82	0.6585	413	c.516 others(432): Show c.516+29260_516+29261insCAGAGTCCCTGGAAGAGGTATCCAGA TTTATGGCTCATCCCAGACTTCTCTAATCGAGGCTGTTTTCCCTCTAGAT GCCTTAGTCAATCAGTAATTAATTTGAAATCCAAAGTTTCATTAAGTGTT ATTGAGTTCTCGCACACTGACATTTGTAGTGCTATATTTCTTTAAAATCA CAAACCATTTTTCATACTGTCGTTTGCATATTTTAACAGAAAAGATTGTG GTTCTGGTGTGAATGACCCAGTTTTCTGGATATATTTACTTGAATGTCAT AAACTTATTATCCTTCTCTTCCACTTCATTGCTTTTCTGCTTTTCTGAAG TATTTTGAAATCATATTTAAAACATCATTATAGCCTCTGAATTCTATCTA AAGCATAACTAAACTTTACCGGGTGACTGTTTTCAAA	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8			chr16	TogoVar
WWOX_chr16_78094654_79217667	78193549	T T	TCAGAGTC others(406): Show TCAGAGTCCCTGGAAGAGGTATCCAGATTTATGGCTCATCCCAGACTTCT CTAATCGAGGCTGTTTTCCCTCTAGATGCCTTAGTCAATCAGTAATTAAT TTGAAATCCAAAGTTTCATTAAGTGTTATTGAGTTCTCGCACACTGACAT TTGTAGTGCTATATTTCTTTAAAATCACAAACCATTTTTCATACTGTCGT TTGCATATTTTAACAGAAAAGATTGTGGTTCTGGTGTGAATGACCCAGTT TTCTGGATATATTTACTTGAATGTCATAAACTTATTATGCTTCTCTTCCA CTTCATTGCTTTTCTGCTTTTCTGAAGTATTTTGAAATCATATTTAAAAC ATCATTATAGCCTCTGAATTCTATCTAAAGCATAACTAAACTTTACCGGG TGACTGTTTTCAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19012.hp1 HG00558.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0142 a0001c0001t0001g0029 a0001c0001t0001g0142	2	30	0.0667	413	c.516 others(432): Show c.516+29260_516+29261insCAGAGTCCCTGGAAGAGGTATCCAGA TTTATGGCTCATCCCAGACTTCTCTAATCGAGGCTGTTTTCCCTCTAGAT GCCTTAGTCAATCAGTAATTAATTTGAAATCCAAAGTTTCATTAAGTGTT ATTGAGTTCTCGCACACTGACATTTGTAGTGCTATATTTCTTTAAAATCA CAAACCATTTTTCATACTGTCGTTTGCATATTTTAACAGAAAAGATTGTG GTTCTGGTGTGAATGACCCAGTTTTCTGGATATATTTACTTGAATGTCAT AAACTTATTATGCTTCTCTTCCACTTCATTGCTTTTCTGCTTTTCTGAAG TATTTTGAAATCATATTTAAAACATCATTATAGCCTCTGAATTCTATCTA AAGCATAACTAAACTTTACCGGGTGACTGTTTTCAAA	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8			chr16	TogoVar

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