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
TMCO3_chr13_113486021_113555229	113543413	C C	CCCCCACC others(199): Show CCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCC TCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCC CTGCCCCCCGCCCTCCCTGTCCGTGACCCCCTCCTCCCCCTGCCCCCGCC CTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTG TCCGTGA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0002 a0013c0021t0002	a0013c0021t0002g0056 a0013c0021t0002g0056	1	330	0.0030	206	c.169 others(225): Show c.1691-3872_1691-3871insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACC TCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCCCCTCCTCCCCCTG CCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGC CCTCCCTGTCCGTGACCCCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCTGGGGT others(199): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0309 a0002c0002t0008g0309	1	248	0.0040	206	c.189 others(221): Show c.189-782_189-781insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747813	G G	GCTGGGGT others(199): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0095 a0002c0002t0095	a0002c0002t0095g0247 a0002c0002t0095g0247	1	236	0.0042	206	c.189 others(221): Show c.189-494_189-493insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748063	G G	GCTGGGGT others(199): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0266 a0001c0001t0007g0266	1	241	0.0041	206	c.189 others(221): Show c.189-242_189-241insTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM65_chr8_124301189_124377701	124302548	T T	TATATTCT others(199): Show TATATTCTTTTATATATTTATATATATATTCTTTTATATATTTATATATA AATATTCTTTTATATATTTATAAATAAATATTCTTTTATATATTTATATA TAAATATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTATA TATAAATATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTA TATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0195 a0001c0001t0005g0195	1	341	0.0029	206	c.11 others(219): Show c.11411_*11412insTTATATATAAATATATAAAAGAATATTTATAT ATAAATATATAAAAGAATATTTATATATAAATATATAAAAGAATATTTAT ATATAAATATATAAAAGAATATTTATATATAAATATATAAAAGAATATTT ATTTATAAATATATAAAAGAATATTTATATATAAATATATAAAAGAATAT ATATATAAATATATAAAAGAATAT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3640		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302589	A A	ATATATAT others(199): Show ATATATATATAAATATATATTCTTTTATATATATATAAATATATATTCTT TTATATATATATAAATATATATTCTTTTATATATATATAAATATATATTC TTTTATATATATATAAATATATATTCTTTTATATATATATAAATATATAT TCTTTTATATATATATAAATATATATTCTTTTATATATATATAAATATAT ATTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG03453.hp2 others(2): Show HG02145.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0051 a0001c0001t0012g0053 others(2): Show a0001c0001t0012g0017 a0001c0001t0012g0051 a0001c0001t0012g0053 a0001c0001t0012g0055 a0001c0001t0012g0061	5	344	0.0145	206	c.11 others(219): Show c.11370_*11371insAAAGAATATATATTTATATATATATAAAAGAA TATATATTTATATATATATAAAAGAATATATATTTATATATATATAAAAG AATATATATTTATATATATATAAAAGAATATATATTTATATATATATAAA AGAATATATATTTATATATATATAAAAGAATATATATTTATATATATATA AAAGAATATATATTTATATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3599		chr8	TogoVar
TMTC2_chr12_82681906_83139866	82997370	A A	ATATATAT others(199): Show ATATATATATGTGTATATATATATGTGTATATATATATATATGTGTATAT ATATATGTGTGTATATATATATGTGTATATATATATGTGTATATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 NA19240.hp1 HG02886.hp2 HG03453.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0010 a0001c0001t0027 a0002c0004t0016 a0001c0001t0010 a0001c0001t0027 a0002c0004t0016	a0001c0001t0010g0017 a0001c0001t0027g0006 a0002c0004t0016g0085 a0001c0001t0010g0017 a0001c0001t0027g0006 a0002c0004t0016g0085	3	65	0.0462	206	c.207 others(227): Show c.2070+11333_2070+11334insGTGTATATATATATGTGTATATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATGTGTATATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATATGTGTATATATATATGTGTATATATATATGTGTATATAT ATATGTGTATATATATATATGTGTATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOP1MT_chr8_143304324_143339880	143307085	A A	ATGGCAGA others(199): Show ATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCGGCAGAGGAGAGGGCG GCAGAGGGTCCCGCATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCAG CAGAGGATCCCACGTAGCAGAGGAGAGGGCGGCAGAGGGTCCCATGTGGC AGAGAGGGCGGCAGAGGGTCCCGCGTGGCAGAGAAGAGGGCGGCAGAGGG TCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02647.hp2 HG01884.hp2 HG02647.hp2	a0002 a0016 a0002 a0016	a0002c0032 a0016c0018 a0002c0032 a0016c0018	a0002c0032t0001 a0016c0018t0001 a0002c0032t0001 a0016c0018t0001	a0002c0032t0001g0085 a0016c0018t0001g0037 a0002c0032t0001g0085 a0016c0018t0001g0037	2	407	0.0049	206	c.23 others(217): Show c.2355_*2356insCGCGGGACCCTCTGCCGCCCTCTTCTCTGCCACG CGGGACCCTCTGCCGCCCTCTCTGCCACATGGGACCCTCTGCCGCCCTCT CCTCTGCTACGTGGGATCCTCTGCTGCCCTCTTCTCTGCCACGTGGGATC CTCTGCCATGCGGGACCCTCTGCCGCCCTCTCCTCTGCCGCCCTCTTCTC TGCCACGTGGGATCCTCTGCCA	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		2238		chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143307085	A A	ATGGCAGA others(199): Show ATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCGGCAGAGGAGAGGGCG GCAGAGGGTCCCGCATGGCAGAGGATCCCACGTGGCAGAGAAGAGGGCAG CAGAGGATCCCACGTAGCAGAGGAGAGGGCGGCAGAGGGTCCCATGTGGC AGAGAGGGCGGCAGAGGGTCCCGCGTGGCAGAGAAGAGGGTGGCAGAGGG TCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02486.hp1 others(18): Show HG01891.hp1 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0004 a0002c0006 a0004c0007 others(1): Show a0002c0004 a0002c0006 a0004c0007 a0015c0035	a0002c0004t0001 a0002c0006t0001 a0004c0007t0001 others(1): Show a0002c0004t0001 a0002c0006t0001 a0004c0007t0001 a0015c0035t0001	a0002c0004t0001g0038 a0002c0004t0001g0092 a0002c0004t0001g0093 others(16): Show a0002c0004t0001g0038 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0006t0001g0119 a0002c0006t0001g0212 a0004c0007t0001g0035 a0004c0007t0001g0036 a0004c0007t0001g0374 a0004c0007t0001g0375 a0004c0007t0001g0376 a0004c0007t0001g0377 a0004c0007t0001g0378 a0004c0007t0001g0379 a0004c0007t0001g0380 a0004c0007t0001g0381 a0004c0007t0001g0383 a0015c0035t0001g0091	21	426	0.0493	206	c.23 others(217): Show c.2355_*2356insCGCGGGACCCTCTGCCACCCTCTTCTCTGCCACG CGGGACCCTCTGCCGCCCTCTCTGCCACATGGGACCCTCTGCCGCCCTCT CCTCTGCTACGTGGGATCCTCTGCTGCCCTCTTCTCTGCCACGTGGGATC CTCTGCCATGCGGGACCCTCTGCCGCCCTCTCCTCTGCCGCCCTCTTCTC TGCCACGTGGGATCCTCTGCCA	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding		2238		chr8	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398194	G G	GCCCTGCA others(199): Show GCCCTGCAGCAGGAGCAGAGGCGGGGGGGTAGCAGGGGGGGTAGTAATGG GGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTAATGGGGGGGT GCCCTGCAGCAGGAGCAGAGTTGGGGGGTAGCAGGAGGGTAATGGGGAGG GTGCCCTGCAGCAGGAGCAGAGGTGGGGGGGTAGCAGGAGGGTAATGGGG AGGGGGC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	218	0.0046	206	c.191 others(223): Show c.1910+517_1910+518insCTGCAGCAGGAGCAGAGGCGGGGGGGTA GCAGGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGG GGGGTAGTAATGGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGTAG CAGGAGGGTAATGGGGAGGGTGCCCTGCAGCAGGAGCAGAGGTGGGGGGG TAGCAGGAGGGTAATGGGGAGGGGGCCC	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398194	G G	GCCCTGCA others(199): Show GCCCTGCAGCAGGAGCAGAGGCGGGGTGGTAGCAGGGGGGTAGTAATGGG GAGGGGGCCCTGCAGCAGGAGGAGAGGTGGGGGGTAGTAATGGGGGGGGT GCCCTGCAGCAGGAGCAGAGTTGGGGGGGTAGCAGGAGGGTAATGGGGAG GGTGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGCAGGAGGGTAATGGGG AGGGGGC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	218	0.0046	206	c.191 others(223): Show c.1910+517_1910+518insCTGCAGCAGGAGCAGAGGCGGGGTGGTA GCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGGAGAGGTGGG GGGTAGTAATGGGGGGGGTGCCCTGCAGCAGGAGCAGAGTTGGGGGGGTA GCAGGAGGGTAATGGGGAGGGTGCCCTGCAGCAGGAGCAGAGGTGGGGGG TAGCAGGAGGGTAATGGGGAGGGGGCCC	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF3IP3_chr1_209751053_209787310	209780328	T T	TGTTAGGG others(199): Show TGTTAGGGGGGAGGGGGGGATTGGTTGAGGGTGGGGGGGTGTGGTGGGGG TGGGGGTGGGGGGGTGGGGGGGGGGGTTGGGGTGGGGGGGGGGGGGTGGT GGGGTGGGGTGGGGGTGGTTGGTGGGGATGGGTATGGTGGGGTGGTGGGG ATGCGGGGGGGGTGGTGGGGGATTGGTGGGGTGTAGTGGGGGGGTTGGAG TTACTAG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0123 a0001c0004t0003g0123	1	442	0.0023	206	c.131 others(223): Show c.1313-140_1313-139insTAGGGGGGAGGGGGGGATTGGTTGAGGG TGGGGGGGTGTGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGGGGGTTGGG GTGGGGGGGGGGGGGTGGTGGGGTGGGGTGGGGGTGGTTGGTGGGGATGG GTATGGTGGGGTGGTGGGGATGCGGGGGGGGTGGTGGGGGATTGGTGGGG TGTAGTGGGGGGGTTGGAGTTACTAGGT	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAF6_chr11_36478769_36515272	36507555	G G	GTGTACAC others(199): Show GTGTACACATGTATATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTAT ACATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGT ATACATGTGTACACATGTGTATACGTATACATGTGTACACATGTATGTAT GTGTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG00438.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0169 a0001c0001t0034g0168 a0001c0001t0002g0169 a0001c0001t0034g0168	2	254	0.0079	206	c.-23 others(223): Show c.-23+2492_-23+2493insTATACACATACATACATGTGTACACATG TATACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACA TGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTACA CATGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTA CACATGTATACGTATATACATGTGTACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM49D1_chr11_89906409_89927245	89909288	T T	TTTATATA others(199): Show TTTATATAAAATATAAATATACAAATATTTGTATATTATATATTTATATA AAATATAATATACAAATATTTGTATATTATATTTTATTAAAATATAAATA TACAAATATTTGTATATTATATATTTATATAAAATATAAATATACAAATA TTTGTATATTATATATTTATATAAAATATAAATATATAAATATTTGTATG TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0009 a0004c0005t0004g0009	3	203	0.0148	206	c.22 others(217): Show c.2298_*2299insTATATAACATACAAATATTTATATATTTATATTT TATATAAATATATAATATACAAATATTTGTATATTTATATTTTATATAAA TATATAATATACAAATATTTGTATATTTATATTTTAATAAAATATAATAT ACAAATATTTGTATATTATATTTTATATAAATATATAATATACAAATATT TGTATATTTATATTTTATATAA	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2120		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097648	T T	TACATATA others(199): Show TACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATA TACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	252	0.0040	206	c.-48 others(217): Show c.-4868_-4867insGTATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATACACACGCGTGT ATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGT ATATACACACGCGTGTATATGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4842		chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870837	C C	CCACACAC others(199): Show CCACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ATACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	277	0.0036	206	c.35 others(225): Show c.35+22105_*35+22106insACACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCATACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(199): Show ATTTGTGGCTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTG TGGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00735.hp2 others(12): Show HG00099.hp1 HG00140.hp1 HG00735.hp2 HG01109.hp2 HG01255.hp2 HG02015.hp2 HG02040.hp1 HG02155.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp2 NA18967.hp2 NA18993.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0057 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0298	15	24	0.6250	206	c.36 others(221): Show c.36-806_*36-805insTGTGGCTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTG TATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGT GTGTGTATGTGGAGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(199): Show ATTTGTGGTTGTGGTACGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTG TGGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	11	0.1818	206	c.36 others(221): Show c.36-806_*36-805insTGTGGTTGTGGTACGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTG TATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGT GTGTGTATGTGGAGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(199): Show ATTTGTGGTTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTG TGGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(80): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18985.hp2 NA18994.hp1 NA18998.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 others(80): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0317 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0002g0257 a0001c0001t0002g0292 a0001c0001t0002g0325 a0001c0001t0002g0331 a0001c0001t0002g0332	83	92	0.9022	206	c.36 others(221): Show c.36-806_*36-805insTGTGGTTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTG TATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGT GTGTGTATGTGGAGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169760	C C	CCCTCCCT others(199): Show CCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACC ACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	114	0.0088	206	c.27 others(215): Show c.271_*272insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		183		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466604	T T	TGGGGGGG others(199): Show TGGGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	244	0.0082	206	c.22 others(215): Show c.221_*222insGGGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		95		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895600	C C	CCCCCCCT others(199): Show CCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0028 a0002c0002t0005g0028	1	260	0.0038	206	c.200 others(223): Show c.2004+695_2004+696insCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(199): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0049	1	211	0.0047	206	c.200 others(223): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(199): Show CCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCC TCCTCCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0264 a0002c0002t0008g0264	1	208	0.0048	206	c.200 others(223): Show c.2004+709_2004+710insTCCTCCTCCCCCCCCTCCTCCTCCCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(199): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCC TCCTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	208	0.0048	206	c.200 others(223): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(199): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATCATATATGATACATATATCATATATATGATACATGTATATCATATA TATGATACATATGTATCATATATATGATACATATGTATCATATATATGAT ACATATGTATCATATATATGATACATATGTATCATATATATGATACATAT GTATCAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	236	0.0042	206	c.856 others(223): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATATCA TATATATGATACATATGTATCATATATATGATACATATGTATCATATATA TGATACATATGTATCATATATATGATACATATGTATCATATATATGATAC ATATGTATCATATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(199): Show CCATGTGTACCTCCAGAGTCCCACACACAGTCATGTACACCTCCAGAGTC CCACACACAGTCATGTGTACTTCCAGAGTCCCACACAGTCAGGTATACCT CCAGAGTCCCACACACAGTCATGTACACCTCCAGAGTCCCACACACAGTC ATGTGTACTTCCAGAGTCCCACACAGTCAGGTATACCTCCAGAGTCCCAC ACACAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0003 a0001c0035t0003	a0001c0035t0003g0026 a0001c0035t0003g0026	1	217	0.0046	206	c.110 others(223): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGTCAT GTACACCTCCAGAGTCCCACACACAGTCATGTGTACTTCCAGAGTCCCAC ACAGTCAGGTATACCTCCAGAGTCCCACACACAGTCATGTACACCTCCAG AGTCCCACACACAGTCATGTGTACTTCCAGAGTCCCACACAGTCAGGTAT ACCTCCAGAGTCCCACACACAGTCATGT	VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR64_chr1_241647281_241807777	241675055	T T	TCCTCCCT others(199): Show TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTC CTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCC TTCCTGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01978.hp2 NA18942.hp2 HG01952.hp1 HG01978.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0026 a0001c0002t0002g0076 a0001c0002t0002g0253 a0001c0001t0001g0026 a0001c0002t0002g0076 a0001c0002t0002g0253	3	172	0.0174	206	c.483 others(221): Show c.483+309_483+310insCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCTCC CTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCC TCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCC TCCTGCCTCCCTCCCTCCTTCCTGCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR7_chr18_56646359_57034792	57024520	T T	TATCCCTA others(199): Show TATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGT CCCTTATAGGATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATG TGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTC AGGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGGAT TTCACAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0090	1	141	0.0071	206	c.427 others(225): Show c.4270-2450_4270-2449insCTATGATAGTTATGTCCCTTATAGGA TTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGAT AGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATA GGGATATGTGAGCTATGATAGTTATGTCCCTTATAGGATTTCACAAATCC CTATTCTCAGACAGGAATAGGGATATGTGA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(199): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATTATATATATATTATATATATAA TATATATATATTTTATATATATATTATATATATATAGAGAGAGAGAGAGA GAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	49	0.0204	206	c.37 others(217): Show c.3793_*3794insCTCTCTCTCTCTCTCTCTCTCTATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATA TAATATATATATATATTATATATATATAATATATATATTATATATATATA ATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(199): Show TAATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATATAATATATATATATATTATATATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATTATATATATATTATATATATAA TATATATATATTTTATATATATATTATATATATATATATAGAGAGAGAGA GAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	49	0.0204	206	c.37 others(217): Show c.3793_*3794insCTCTCTCTCTCTCTCTCTATATATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATA TAATATATATATATATTATATATATATAATATATATATTATATATATATA ATATATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WNK2_chr9_93179139_93325569	93295829	C C	CTCAACTC others(199): Show CTCAACTCACTTTCCTCCTCTCTCCATCCTCCCCTCACCTTCCTCCCCTC TCCATCCTCAACTCACTTTCCTCCTCTCTCCATCCTCCCCTCACCTTCCT CCCCCCACCTTCCTCCCCCACCTTCCTCCCCTCTCTATCCTCCCCTCTCC ATCCTCCCTTCACCTTCCTTGTCTCTCCAGCTTCCCCTCACTTTCCTCCC CTCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0206 a0001c0036t0001g0206	1	312	0.0032	206	c.570 others(225): Show c.5709-1943_5709-1942insTCCTCCCCTCACCTTCCTCCCCCCAC CTTCCTCCCCCACCTTCCTCCCCTCTCTATCCTCCCCTCTCCATCCTCCC TTCACCTTCCTTGTCTCTCCAGCTTCCCCTCACTTTCCTCCCCTCTCCAT CAACTCACTTTCCTCCTCTCTCCATCCTCCCCTCACCTTCCTCCCCTCTC CATCCTCAACTCACTTTCCTCCTCTCTCCA	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	23/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
XRCC2_chr7_152639776_152681141	152674684	A A	AATATATT others(199): Show AATATATTTTAAATATATATAATATATATTTTAAAATATATTTATATATT AATATATTTTTAAATATATATTATATATATTTTAAAATATATTTATATAT AATATATTTTTAAATATATATTATATATAATATATTTTAAAATATATATT ATATATAATATATATTTTAAAATATATTATATAAATATATTTTAAAATAT GTATTAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0183 a0001c0001t0011g0183	1	388	0.0026	206	c.39+ others(221): Show c.39+1356_39+1357insATAATACATATTTTAAAATATATTTATATA ATATATTTTAAAATATATATTATATATAATATATATTTTAAAATATATTA TATATAATATATATTTAAAAATATATTATATATAAATATATTTTAAAATA TATATAATATATATTTAAAAATATATTAATATATAAATATATTTTAAAAT ATATATTATATATATTTAAAATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZC3H12B_chrX_65029826_65512887	65450699	G G	GTATATAT others(199): Show GTATATATGTATACATATGTATATATACATATGTATATATGCATATATAC ATATGTGTATATATATGTATATATGTATACATATGTATATATACATATGT ATATATATGTATATATGCATATATACATATGTATATATATGTATATATGC ATATATACATATGTATATATGCATATGTATACATATGTATATATGCATAT ATACATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	153	0.0065	206	c.-15 others(227): Show c.-156-37946_-156-37945insATATATGTATACATATGTATATAT ACATATGTATATATGCATATATACATATGTGTATATATATGTATATATGT ATACATATGTATATATACATATGTATATATATGTATATATGCATATATAC ATATGTATATATATGTATATATGCATATATACATATGTATATATGCATAT GTATACATATGTATATATGCATATATACATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZMYND8_chr20_47204214_47361699	47225596	A A	AGGAAGGG others(199): Show AGGAAGGGGAAGGGAGGGGAATGAAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAGGAGGGAAAGGGAGGGCAGGGGGGAGGGGA GGGGAGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	39	0.0256	206	c.301 others(225): Show c.3017-1041_3017-1040insCCTCCCCTCCCCTCCCCCCTGCCCTC CCTTTCCCTCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCCCCTTCATTCCCCTCCCTTCCCCTTCC	ZMYND8	ENSG00000101040.20	transcript	ENST00000471951.7	protein_coding	18/22			chr20	TogoVar
ZNF253_chr19_19860882_19899674	19891007	A A	ATTTTTTT others(199): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	361	0.0028	206	c.227 others(221): Show c.227-461_227-460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCT ACCACGCCCGGCTAATTTTTTTTTTT	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(199): Show CATATATATATCATATATATGAGATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGATATA TATCTCATATATATCATATATATGATATATATCTCATATATATATCATAT ATATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18979.hp2 HG02293.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	89	0.0225	206	c.-32 others(217): Show c.-3203_-3202insATATATATATCATATATATGAGATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATCATATATATGATATATATCTC ATATATATATCATATATATGAG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(199): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGAGATA TATCTCATATATATCATATATATGAGATATATCTCATATATATATCATAT ATATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	88	0.0114	206	c.-32 others(217): Show c.-3203_-3202insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGAGATATATCTCATATATATCATATATATGAGATATATCTC ATATATATATCATATATATGAG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(199): Show AATATATAAATATATATAAAAATATATATAAATATATAAATATATATAAA TATATATAAATATATAAATATATATATATAAATATATATAAATATATATA AATATATAAATATATATATATAAATATATATAAATATATAAATATATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA AATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	114	0.0088	206	c.-11 others(217): Show c.-1140_-1139insATATATAAATATATATAAAAATATATATAAATAT ATAAATATATATAAATATATATAAATATATAAATATATATATATAAATAT ATATAAATATATATAAATATATAAATATATATATATAAATATATATAAAT ATATAAATATATATATATAAATATATATAAATATATAAATATATATATAA ATATATATAAATATAAATATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ZNF732_chr4_265675_310474	299343	G G	GTATATAT others(199): Show GTATATATATATACACATATATACACATATGTGTATATATATATACACAT ATGTGTATATATATATACACATATGTGTATATATATATACACATATATAC ACATATGTGTATATATATATACACATATATACACATATGTGTATATATAT ATACACATATATACACATATGTGTATATATATACACATATATACACATAT GTGTATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0237 a0004c0004t0001g0237	1	314	0.0032	206	c.4-3 others(219): Show c.4-3189_4-3188insTATACACATATGTGTATATATGTGTATATATA TACACATATGTGTATATATGTGTATATATATATACACATATGTGTATATA TGTGTATATATATATACACATATGTGTATATATGTGTATATATATATACA CATATGTGTATATATATATACACATATGTGTATATATATATACACATATG TGTATATATGTGTATATATATATA	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ACSF3_chr16_89088852_89161233	89147208	A A	AGAGGAGG others(200): Show AGAGGAGGGAGGGTCCACAGAGTGAGTGAGAGAGGAGGGAGGGTCCACAG AGTGAGTGAGAGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGA GGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAG GGAGGAGGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGT GAGTGAGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0196 a0001c0005t0009g0196	1	107	0.0093	207	c.161 others(226): Show c.1613+1188_1613+1189insAGAGGAGGGAGGGTCCACAGAGTGAG TGAGAGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGGGTC ACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAGGGAGGA GGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGTGAGTGA GGGAGGAGGGAGGGTCCACAGAGTGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147208	A A	AGAGGAGG others(200): Show AGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGGGTCACAG AGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAGGGAGGAGGGA GGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTATGAGTGAG GGAGGAGGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGT GAGTGAGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	107	0.0093	207	c.161 others(226): Show c.1613+1274_1613+1275insTGAGGGAGGAGGGAGGGGCCACAGTA TGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGCAAGGGGGGGAGGGGC CACAGAGTGAGTGAGGGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGG AGGGAGGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGA GTGAGGGAGGAGGGAGGGGTCACAGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTN4_chr19_38642649_38736589	38736581	A A	AAGGGGCG others(200): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGG GGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCG TCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCA GGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0096 a0001c0004t0005g0096	1	287	0.0035	207	c.71 others(218): Show c.7149_*7150insAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCA GGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGG AGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG AGGGGCGTCGGGGCAGGGGAGAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4993		chr19	TogoVar
ADAMTS16_chr5_5135330_5325304	5305089	C C	CCCATCCC others(200): Show CCCATCCCACGCCACACACATCCACACCACACACACATCCCACACCACAC ACACACACACACACATCCCATACCACACACACACATCCCACACCACACAC ATCCCACACCACACACACATCCCACACCACACACACACATCCCACACCAC ACACACATCCCACACCACACATACACACACATCCCACACCACACACACAC ACATCCCA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0010 a0010	a0010c0028 a0010c0028	a0010c0028t0035 a0010c0028t0035	a0010c0028t0035g0157 a0010c0028t0035g0157	1	322	0.0031	207	c.318 others(226): Show c.3186+1324_3186+1325insCATCCCACGCCACACACATCCACACC ACACACACATCCCACACCACACACACACACACACACATCCCATACCACAC ACACACATCCCACACCACACACATCCCACACCACACACACATCCCACACC ACACACACACATCCCACACCACACACACATCCCACACCACACATACACAC ACATCCCACACCACACACACACACATCCCAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADARB2_chr10_1172313_1742525	1340977	G G	GCGGCAAT others(200): Show GCGGCAATAACCGGCATCCACCAGAGAACCACACACCCCACAGCGGCAAT AACCAGCATCCACCAGAGAACCACACGCCCCACAGCGGCAATAACCGGCA TCCACCAGAGAACCACGCGCCCCACAGCGGCAATAACCGGCATCCACCAG AGAACCACACACCCCACAGCGGCAATAACCGGCATCCACCAGAGAACCAC ACACCCCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0030 a0001c0001t0017g0030	1	106	0.0094	207	c.107 others(228): Show c.1077+22050_1077+22051insTGGGGTGTGTGGTTCTCTGGTGGA TGCCGGTTATTGCCGCTGTGGGGTGTGTGGTTCTCTGGTGGATGCCGGTT ATTGCCGCTGTGGGGCGCGTGGTTCTCTGGTGGATGCCGGTTATTGCCGC TGTGGGGCGTGTGGTTCTCTGGTGGATGCTGGTTATTGCCGCTGTGGGGT GTGTGGTTCTCTGGTGGATGCCGGTTATTGCCG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131046596	T T	TCCTCCCT others(200): Show TCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCCTGGTCAGGGT CCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTCCTCTCTCCCTGGTCA GTGTCCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCA GCGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCCCCCTCCCTGGT CAATGCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02257.hp2 others(9): Show HG01109.hp1 HG02109.hp1 HG02257.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0007 others(5): Show a0001c0002 a0001c0003 a0001c0007 a0001c0019 a0002c0031 a0003c0018 a0003c0030 a0003c0044	a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 others(8): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0013 a0001c0003t0018 a0001c0007t0004 a0001c0019t0004 a0002c0031t0003 a0003c0018t0020 a0003c0030t0032 a0003c0044t0007	a0001c0002t0001g0223 a0001c0003t0001g0153 a0001c0003t0004g0207 others(9): Show a0001c0002t0001g0223 a0001c0003t0001g0153 a0001c0003t0004g0207 a0001c0003t0013g0129 a0001c0003t0018g0232 a0001c0007t0004g0102 a0001c0019t0004g0230 a0002c0031t0003g0089 a0003c0018t0020g0123 a0003c0018t0020g0124 a0003c0030t0032g0160 a0003c0044t0007g0126	12	240	0.0500	207	c.147 others(228): Show c.1474-30189_1474-30188insTCCTCCCTGGTCAGTGTCCTCCCT GGTCAGGGTCCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTCCTCTCT CCCTGGTCAGTGTCCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTCCT CCCTGGTCAGCGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCCCC CTCCCTGGTCAATGCTCCCTCCCTGGTCAGTGC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AFAP1_chr4_7753714_7944861	7919007	C C	CCAGATGA others(200): Show CCAGATGAGACACTCGGCCAGGTCACCAGGAAACAGGGCTGCCAGATGAG ACACTCGGCCCAGGTCACCAGGAAACAGGGCTGTTGGAGAGACACTAGGC CCAGGTCACCAGGAAACAGGGCTGCGGATGAGACACTCGGCCCAGGTCAC CAGGAAACAGGGCTGCCAGAAGAGACACTCGGCCAGGTCACCAAGAAACA GGGCTGCT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	88	0.0114	207	c.-3+ others(224): Show c.-3+20648_-3+20649insAGCAGCCCTGTTTCTTGGTGACCTGGCC GAGTGTCTCTTCTGGCAGCCCTGTTTCCTGGTGACCTGGGCCGAGTGTCT CATCCGCAGCCCTGTTTCCTGGTGACCTGGGCCTAGTGTCTCTCCAACAG CCCTGTTTCCTGGTGACCTGGGCCGAGTGTCTCATCTGGCAGCCCTGTTT CCTGGTGACCTGGCCGAGTGTCTCATCTG	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17			chr4	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(200): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0208 a0001c0002t0003g0208	1	266	0.0038	207	c.364 others(226): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP17A_chrX_1586604_1607520	1596855	T T	TCCTCCTA others(200): Show TCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTC CCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCC TCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCATC CCTCCCAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19067.hp1 NA19074.hp1 others(1): Show NA18994.hp1 NA19067.hp1 NA19074.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0001 a0001c0004t0001 a0001c0005t0001	a0001c0004t0001g0012 a0001c0005t0001g0054 a0001c0005t0001g0055 others(1): Show a0001c0004t0001g0012 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056	4	112	0.0357	207	c.911 others(224): Show c.911+1383_911+1384insTGGATTCCTCCTCCTCCTCCTCTTCCTC CTCCATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCC TCCTCCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCT CCTTCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCT TCTCCGTCCCTCCCACCCTCCTAGTGAGG	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1596892	G G	GTCCCTCC others(200): Show GTCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCC TCCTCCATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTT CCTCCTCCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTC CTCCTTCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTC CTTCTCCA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0059 a0002c0003t0002g0059	1	46	0.0217	207	c.911 others(224): Show c.911+1383_911+1384insTGGATTCCTCCTCCTCCTCCTCTTCCTC CTCCATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCC TCCTCCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCT CCTTCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCT TCTCCATCCCTCCCACCCTCCTAGTGAGG	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar

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