Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TCF3_chr19_1604292_1657615	1628320	A A	ACGGGGGT others(227): Show ACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0159 a0002c0001t0029g0159	1	352	0.0028	234	c.299 others(249): Show c.299-895_299-894insAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCCATGAGCTCTGCTGTCCCCTTCCCACCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCACC CCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(227): Show ACATATTATATACTATATAATATGTATCATATTATATACTATATAATATG TATCATATTATATACTATATAATATGTATCATATTATATACTATATAATA TGTATCATATTATATACTATATAATATGTATCATATTATATACTATATAA TATGTATCATATTATATACTATATAATATGTATCATATTATATACTATAT AATATGTATCATATTATATACTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	446	0.0022	234	c.89 others(245): Show c.8955_*8956insATACATATTATATAGTATATAATATGATACATAT TATATAGTATATAATATGATACATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATAC ATATTATATAGTATATAATATGATACATATTATATAGTATATAATATGAT ACATATTATATAGTATATAATATGATACATATTATATAGTATATAATATG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(227): Show ACATATTATATACTATATAATATGTATCATATTATATACTATATAATATG TATCATATTATATACTATATAATATGTATCATATTATATACTATATAATA TGTATCATATTATATACTATATAATATGTATCATATTATATACTATATAA TATGTATCATATTATATACTATATAATATGTTACATATTATATACTATAT AATATGTATCATATTATATACTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00438.hp1 others(9): Show HG00140.hp1 HG00323.hp1 HG00438.hp1 HG02129.hp2 HG02300.hp2 NA18939.hp1 NA18947.hp2 NA18952.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19084.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0010 a0001c0001 a0003c0003 a0007c0010	a0001c0001t0001 a0001c0001t0033 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0033 a0003c0003t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0033g0063 a0003c0003t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0033g0063 a0003c0003t0001g0003 a0007c0010t0001g0045	12	446	0.0269	234	c.89 others(245): Show c.8955_*8956insATACATATTATATAGTATATAATATGATACATAT TATATAGTATATAATATGTAACATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATAC ATATTATATAGTATATAATATGATACATATTATATAGTATATAATATGAT ACATATTATATAGTATATAATATGATACATATTATATAGTATATAATATG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(227): Show ACATATTATATACTATATAATATGTATCATATTATATACTATATAATATG TATCATATTATATACTATATAATATGTATCATATTATATACTATATAATA TGTATCATATTATATACTATATAATATGTATCATATTATATACTATATAA TATGTATCATATTATATACTATATAATATGTTACATATTATATACTATAT AATATGTTACATATTATATACTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 NA18522.hp2 HG02258.hp1 HG02559.hp1 NA18522.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0008 a0004c0004t0001g0008	3	446	0.0067	234	c.89 others(245): Show c.8955_*8956insATACATATTATATAGTATATAATATGTAACATAT TATATAGTATATAATATGTAACATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATAC ATATTATATAGTATATAATATGATACATATTATATAGTATATAATATGAT ACATATTATATAGTATATAATATGATACATATTATATAGTATATAATATG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(227): Show ACATATTATATACTATATAATATGTATCATATTATATACTATATAATATG TATCATATTATATACTATATAATATGTATCATATTATATACTATATAATA TGTATCATATTATATACTATATAATATGTATCATATTATATACTATATAA TATGTTACATATTATATACTATATAATATGTATCATATTATATACTATAT AATATGTATCATATTATATACTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG03491.hp1 HG03492.hp2 others(5): Show HG02523.hp2 HG03491.hp1 HG03492.hp2 NA18942.hp2 NA18967.hp2 NA19007.hp1 NA19070.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 a0001c0001t0001 a0001c0001t0006 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0006g0006 a0003c0003t0001g0003 a0001c0001t0001g0001 a0001c0001t0006g0006 a0003c0003t0001g0003	8	446	0.0179	234	c.89 others(245): Show c.8955_*8956insATACATATTATATAGTATATAATATGATACATAT TATATAGTATATAATATGATACATATTATATAGTATATAATATGTAACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATAC ATATTATATAGTATATAATATGATACATATTATATAGTATATAATATGAT ACATATTATATAGTATATAATATGATACATATTATATAGTATATAATATG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(227): Show ACATATTATATACTATATAATATGTATCATATTATATACTATATAATATG TATCATATTATATACTATATAATATGTATCATATTATATACTATATAATA TGTATCATATTATATACTATATAATATGTATCATATTATATACTATATAA TATGTTACATATTATATACTATATAATATGTATCATATTATATACTATAT AATATGTATCATATTATATAGTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA19067.hp2 NA19082.hp2 NA18967.hp1 NA19067.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0054 a0001c0001t0015g0018 a0001c0001t0001g0054 a0001c0001t0015g0018	3	446	0.0067	234	c.89 others(245): Show c.8955_*8956insATACATATTATATACTATATAATATGATACATAT TATATAGTATATAATATGATACATATTATATAGTATATAATATGTAACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATAC ATATTATATAGTATATAATATGATACATATTATATAGTATATAATATGAT ACATATTATATAGTATATAATATGATACATATTATATAGTATATAATATG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(227): Show ACATATTATATACTATATAATATGTATCATATTATATACTATATAATATG TATCATATTATATACTATATAATATGTATCATATTATATACTATATAATA TGTATCATATTATATACTATATAATATGTTACATATTATATACTATATAA TATGTATCATATTATATACTATATAATATGTATCATATTATATACTATAT AATATGTATCATATTATATACTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18987.hp2 NA18983.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	446	0.0045	234	c.89 others(245): Show c.8955_*8956insATACATATTATATAGTATATAATATGATACATAT TATATAGTATATAATATGATACATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGTAACATATTATATAGTATATAATATGATAC ATATTATATAGTATATAATATGATACATATTATATAGTATATAATATGAT ACATATTATATAGTATATAATATGATACATATTATATAGTATATAATATG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(227): Show ACATATTATATAGTATATAATATGTATCATATTATATAGTATATAATATG TATCATATTATATAGTATATAATATGTATCATATTATATAGTATATAATA TGTATCATATTATATACTATATAATATGTATCATATTATATACTATATAA TATGTATCATATTATATACTATATAATATGATACATATTATATACTATAT AATATGTATCATATTATATACTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	446	0.0022	234	c.89 others(245): Show c.8955_*8956insATACATATTATATAGTATATAATATGATACATAT TATATAGTATATAATATGTATCATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATAC ATATTATATACTATATAATATGATACATATTATATACTATATAATATGAT ACATATTATATACTATATAATATGATACATATTATATACTATATAATATG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740751	C C	CTATATAA others(227): Show CTATATAATATGTATCATATTATATACTATATAATATGTATCATATTATA TACTATATAATATGTATCATATTATATACTATATAATATGTATCATATTA TATACTATATAATATGTATCATATTATATACTATATAATATGTATCATAT TATATACTATATAATATGTTACATATTATATACTATATAATATGTATCAT ATTATATAGTATATAATATGTATCATATTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	234	c.89 others(245): Show c.8943_*8944insCTATATAATATGATACATATTATATACTATATAA TATGATACATATTATATAGTATATAATATGTAACATATTATATAGTATAT AATATGATACATATTATATAGTATATAATATGATACATATTATATAGTAT ATAATATGATACATATTATATAGTATATAATATGATACATATTATATAGT ATATAATATGATACATATTATATAGTATATAATATGATACATATTATATA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4978		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740751	C C	CTATATAA others(227): Show CTATATAATATGTATCATATTATATACTATATAATATGTATCATATTATA TACTATATAATATGTATCATATTATATACTATATAATATGTATCATATTA TATACTATATAATATGTATCATATTATATACTATATAATATGTTACATAT TATATACTATATAATATGTATCATATTATATACTATATAATATGTATCAT ATTATATAGTATATAATATGTATCATATTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	234	c.89 others(245): Show c.8943_*8944insCTATATAATATGATACATATTATATACTATATAA TATGATACATATTATATAGTATATAATATGATACATATTATATAGTATAT AATATGTAACATATTATATAGTATATAATATGATACATATTATATAGTAT ATAATATGATACATATTATATAGTATATAATATGATACATATTATATAGT ATATAATATGATACATATTATATAGTATATAATATGATACATATTATATA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4978		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740777	C C	CTATATAA others(227): Show CTATATAATATGTATCATATTATATACTATATAATATGTATCATATTATA TACTATATAATATGTATCATATTATATACTATATAATATGTATCATATTA TATACTATATAATATGTTACATATTATATACTATATAATATGTATCATAT TATATACTATATAATATGTATCATATTATATACTATATAATATGTATCAT ATTATATACTATATAATATGTATCATATTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	234	c.89 others(245): Show c.8917_*8918insCTATATAATATGATACATATTATATAGTATATAA TATGATACATATTATATAGTATATAATATGATACATATTATATAGTATAT AATATGATACATATTATATAGTATATAATATGTAACATATTATATAGTAT ATAATATGATACATATTATATAGTATATAATATGATACATATTATATAGT ATATAATATGATACATATTATATAGTATATAATATGATACATATTATATA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4952		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740838	A A	ATGTATCA others(227): Show ATGTATCATATTATATACTATATAATATGTATCATATTATATACTATATA ATATGTTACATATTATATACTATATAATATGTATCATATTATATACTATA TAATATGTATCATATTATATACTATATAATATGTATCATATTATATACTA TATACTATGTATCATATTATATACTATATAATATGTATCATATTATATAC TATATAATATGTATCATAGTATATAGTATATAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	446	0.0022	234	c.88 others(245): Show c.8856_*8857insCATTATATACTATATACTATGATACATATTATAT AGTATATAATATGATACATATTATATAGTATATAATATGATACATAGTAT ATAGTATATAATATGATACATATTATATAGTATATAATATGATACATATT ATATAGTATATAATATGATACATATTATATAGTATATAATATGTAACATA TTATATAGTATATAATATGATACATATTATATAGTATATAATATGATACA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4891		chr6	TogoVar
TERT_chr5_1248167_1300068	1273699	C C	CATCAGAC others(227): Show CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0124 a0001c0001t0002g0127 a0001c0001t0001g0124 a0001c0001t0002g0127	2	392	0.0051	234	c.228 others(253): Show c.2287-1420_2287-1419insACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGAT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376741	T T	TCTGTGCC others(227): Show TCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	370	0.0027	234	c.-77 others(243): Show c.-772_-771insGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		716		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543122	C C	CCTGTCTG others(227): Show CCTGTCTGTGACCACCTCCTCCCCCTGCCCCACCTCTGTCTGTGACCCCA CCTCCTCCCCCTGCCCCCTGCCCTCCCTGTCCGTGACCACCTCCTCCCCC TGCCCCACCTCTGTCTGTGACCCCACCTGCTCCCCCTGCTCCCCGCCCTC CCTCTGTCCGTGACCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCTGTCC GTGACCACCTCCTCCCCCTGCCCCCCGCCCTCCCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0244 a0001c0006t0001g0244	1	368	0.0027	234	c.169 others(253): Show c.1690+3620_1690+3621insTGTGACCACCTCCTCCCCCTGCCCCA CCTCTGTCTGTGACCCCACCTCCTCCCCCTGCCCCCTGCCCTCCCTGTCC GTGACCACCTCCTCCCCCTGCCCCACCTCTGTCTGTGACCCCACCTGCTC CCCCTGCTCCCCGCCCTCCCTCTGTCCGTGACCCCACCTCCTCCCCCTGC CCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCCCCCCGCCCTC CCTCTGTC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120B_chr12_121707752_121787068	121747491	G G	GCACTGGG others(227): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0031 a0001c0001t0010g0031	1	314	0.0032	234	c.189 others(249): Show c.189-834_189-833insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113793401	G G	GAAGGTGC others(227): Show GAAGGTGCCAGCAGGTGGGAGAACCATCTCTCTGTAACTCACGCAGGGAC CGTGCCGGTCTGGGACCCACCTGAGAAGAAAGGTGCCAGCAGGTGGGAGA ACCATCTCTCTGTGACTCACGCAGGGACCGTGCCGGTCTGGGACCCACCT GAGAAGAAAGGTGCCAGCAGGTGGGAGAACCATCTCTCTGTAACTCACGC AGGGACCGTGCTGGTCTGGGACCCACCTGAGAAGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0141 a0001c0001t0140 a0001c0001t0141	a0001c0001t0140g0021 a0001c0001t0141g0020 a0001c0001t0140g0021 a0001c0001t0141g0020	2	260	0.0077	234	c.253 others(251): Show c.253-1599_253-1598insTGAGAAGAAAGGTGCCAGCAGGTGGGAG AACCATCTCTCTGTAACTCACGCAGGGACCGTGCTGGTCTGGGACCCACC TGAGAAGAAAGGTGCCAGCAGGTGGGAGAACCATCTCTCTGTAACTCACG CAGGGACCGTGCCGGTCTGGGACCCACCTGAGAAGAAAGGTGCCAGCAGG TGGGAGAACCATCTCTCTGTGACTCACGCAGGGACCGTGCCGGTCTGGGA CCCACC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMTC2_chr12_82681906_83139866	82997352	A A	ATATATAT others(227): Show ATATATATATATATGTGTATATATATATGTGTATATATATATGTGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG03239.hp1 others(2): Show HG00639.hp1 HG01361.hp2 HG03239.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0002g0028 a0001c0001t0002g0070 a0001c0001t0004g0057 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0070 a0001c0001t0004g0057 a0001c0001t0006g0072 a0001c0001t0009g0078	5	96	0.0521	234	c.207 others(255): Show c.2070+11333_2070+11334insGTGTATATATATATGTGTGTATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATATGTGTATATATATATATGTGT ATATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNNT1_chr19_55127698_55154206	55134801	G G	GAAGAGGG others(227): Show GAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGAGGGCAGAAGAC GGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAATAGGGGAGGGGAG GGGAGGAGAGGGGAGGAGAGGGGAGAGAGAAGAGGGGAGGGGAGGGGAGG AAAGGGAGGGGAGGAGAGAAGAGGGGAGGGAGGGGAGGAAAGGGGAGGGA GAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	320	0.0031	234	c.612 others(249): Show c.612-598_612-597insTCCCCTCCCCTCCCCTCTTCTCCCCTCCCC TCTTCTCCCTCCCCTTTCCTCCCCTCCCTCCCCTCTTCTCTCCTCCCCTC CCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCTCCCCTCTCCTCCCCTCTC CTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCC CTCCCGTCTTCTGCCCTCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCC TCTT	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TPCN2_chr11_69043932_69095597	69068420	C C	CTGGGAGC others(227): Show CTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGG ACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGT CCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTG ACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGG AGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp1 HG02965.hp2 NA19240.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0012 a0004c0011t0012	a0004c0011t0012g0205 a0004c0011t0012g0210 a0004c0011t0012g0205 a0004c0011t0012g0210	2	404	0.0050	234	c.829 others(249): Show c.829+853_829+854insCTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC CGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGAC CGCA	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPCN2_chr11_69043932_69095597	69068686	G G	GACCGCAG others(227): Show GACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCACAGGGG GAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCA TCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTA GGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCG CACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	404	0.0025	234	c.829 others(251): Show c.829+1123_829+1124insACAGGGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCGCAGTGGGAGCAGGACCATCTGAGTCCTAGGAAGTGACC GCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGC AGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTG AGTCCTAGGAAGTTACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRIM28_chr19_58539064_58555715	58539144	C C	CCCTGCTT others(227): Show CCCTGCTTCCCTCCTCAGACGGGATTCTCCCCACACACACCCTGCTTCCC TCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACGG GATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCA CACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTG CTTCCCTCCTCAGACAGGATTCTCCCCACACAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG04199.hp1 HG03704.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	402	0.0050	234	c.-56 others(245): Show c.-5614_-5613insCCTGCTTCCCTCCTCAGACGGGATTCTCCCCACA CACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCT TCCCTCCTCAGACGGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAG ACGGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTT CTCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGAA	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4919		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58539222	A A	ACCTGCTT others(227): Show ACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCC TCCTCAGACATGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAG GATTCTTCTCTCACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCC CACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTG CTTCCCTCCTCAGACAGGATTCTCCCCCCACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	234	c.-55 others(245): Show c.-5536_-5535insCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACA CACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACACCCTGCT TCCCTCCTCAGACAGGATTCTTCTCTCACACACCCTGCTTCCCTCCTCAG ACGGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTC CCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACAC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4841		chr19	TogoVar
TRPC4AP_chr20_34997404_35097807	35097556	T T	TATACACA others(227): Show TATACACACATGTGTGTGTATATACATATACACACATGTGTGTGTATATA CATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATA CACGCGTGTGTATATACATATACACGCGTGCGTATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	334	0.0030	234	c.-47 others(245): Show c.-4776_-4775insGTATATATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACACACGCGT GTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATAT GTATATACACACACATGTGTGTATATGTATATACACACACATGTGTGTAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4750		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(227): Show CATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATA CACGCGTGCGTATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATACACATATATACACGCGTGCGTATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	334	0.0030	234	c.-48 others(245): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATATGTGTATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATACGCACGCGT GTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TSC22D2_chr3_150403298_150471422	150429683	T T	TAAAACTG others(227): Show TAAAACTGTTTGAGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0071 a0002c0002t0071	a0002c0002t0071g0231 a0002c0002t0071g0231	1	404	0.0025	234	c.195 others(255): Show c.1958+18387_1958+18388insGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AACTGTTTGA	TSC22D2	ENSG00000196428.13	transcript	ENST00000688009.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
TSNARE1_chr8_142207080_142408182	142256385	T T	TCACCACC others(227): Show TCACCACCATCATCACCATCACCACCACCACCATCACCATCACCATCATC ATGGCTGTCACCACCATCATCACCATCACCACCACCATGACCATCACCAT CATCACCATCACCACCACCACCACTGTCACCATCACCACCACCATCATCA CCACCACCATCACCATCACTATCACCACCACCATCACCACCATCACTATC ACCACCACCACCACCATCACCATAATTCCTACCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(76): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02523.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp2 NA18612.hp2 NA18947.hp2 NA18950.hp1 NA18954.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0012	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0005c0009 a0007c0007 a0008c0008 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0004c0004t0001 a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 a0005c0009t0001 a0005c0009t0002 a0007c0007t0004 a0008c0008t0001 a0012c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0024 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0220 a0001c0001t0002g0009 a0001c0001t0002g0048 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0003g0020 a0001c0001t0003g0038 a0001c0001t0003g0212 a0001c0001t0004g0052 a0002c0002t0001g0054 a0002c0002t0001g0153 a0002c0002t0001g0194 a0002c0002t0002g0203 a0002c0002t0002g0211 a0002c0002t0003g0204 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0113 a0003c0003t0001g0115 a0003c0003t0001g0117 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0127 a0003c0003t0001g0133 a0003c0003t0001g0137 a0003c0003t0002g0011 a0003c0003t0002g0105 a0003c0003t0002g0107 a0003c0003t0002g0111 a0003c0003t0002g0112 a0003c0003t0002g0118 a0003c0003t0002g0122 a0003c0003t0002g0138 a0003c0003t0003g0096 a0003c0003t0003g0101 a0003c0003t0003g0106 a0003c0003t0003g0110 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0004g0103 a0004c0004t0001g0092 a0004c0004t0001g0095 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0002g0102 a0005c0005t0001g0187 a0005c0005t0001g0218 a0005c0005t0002g0148 a0005c0005t0002g0149 a0005c0009t0001g0231 a0005c0009t0002g0234 a0005c0009t0002g0235 a0007c0007t0004g0005 a0008c0008t0001g0192 a0012c0015t0001g0027	79	238	0.3319	234	c.144 others(255): Show c.1446+18395_1446+18396insGTGGTAGGAATTATGGTGATGGTG GTGGTGGTGGTGATAGTGATGGTGGTGATGGTGGTGGTGATAGTGATGGT GATGGTGGTGGTGATGATGGTGGTGGTGATGGTGACAGTGGTGGTGGTGG TGATGGTGATGATGGTGATGGTCATGGTGGTGGTGATGGTGATGATGGTG GTGACAGCCATGATGATGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GATGGTGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142256385	T T	TCACCACC others(227): Show TCACCACCATCATCACCATCACCACCACCACTGTCACCATCACCATCATC ATGGCTGTCACCACCATCATCACCATCACCACCACCATGACCATCACCAT CATCACCATCACCACCACCACCACTGTCACCATCACCACCACCATCATCA CCACCACCATCACCATCACTATCACCACCACCATCACCACCATCACTATC ACCACCACCACCACCATCACCATAATTCCTACCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02647.hp1 others(3): Show HG01109.hp1 HG01255.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0002g0015 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0002g0015 a0002c0002t0001g0090 a0002c0002t0001g0189 a0004c0004t0001g0130	6	238	0.0252	234	c.144 others(255): Show c.1446+18395_1446+18396insGTGGTAGGAATTATGGTGATGGTG GTGGTGGTGGTGATAGTGATGGTGGTGATGGTGGTGGTGATAGTGATGGT GATGGTGGTGGTGATGATGGTGGTGGTGATGGTGACAGTGGTGGTGGTGG TGATGGTGATGATGGTGATGGTCATGGTGGTGGTGATGGTGATGATGGTG GTGACAGCCATGATGATGGTGATGGTGACAGTGGTGGTGGTGATGGTGAT GATGGTGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870257	C C	CACACACC others(227): Show CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCACACACACCACACACCCCCCACACACCACACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CCCACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	338	0.0030	234	c.35 others(253): Show c.35+21527_*35+21528insCACCACACCCCATACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACAC CCCCCACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCCCACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCATACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870395	A A	ACACACAC others(227): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACAGCACACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	338	0.0030	234	c.35 others(253): Show c.35+21669_*35+21670insCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACAGCACACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACC CCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2U_chr1_64198623_64272368	64201499	T T	TGCCCCGT others(227): Show TGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCG GGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	330	0.0030	234	c.-25 others(245): Show c.-2552_-2551insGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2123		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201499	T T	TGCCCCGT others(227): Show TGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	330	0.0030	234	c.-25 others(245): Show c.-2552_-2551insGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2123		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201596	G G	GCGGGAGG others(227): Show GCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	330	0.0030	234	c.-24 others(245): Show c.-2455_-2454insCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2026		chr1	TogoVar
UNC93A_chr6_167286315_167321014	167295699	C C	CTCCTCGC others(227): Show CTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTCCCT CGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCT GCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTC GCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCT CCTCGCCTCCCTCGTGATCCTCGCCTCCCTCGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01255.hp1 HG02015.hp1 others(12): Show HG00408.hp1 HG01255.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02129.hp2 HG02165.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18961.hp1 NA18965.hp1 NA19063.hp2 NA19067.hp1 NA19075.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0006	a0001c0001t0001 a0002c0002t0004 a0003c0003t0003 others(2): Show a0001c0001t0001 a0002c0002t0004 a0003c0003t0003 a0005c0005t0003 a0007c0006t0001	a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 others(9): Show a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0002c0002t0004g0021 a0002c0002t0004g0071 a0003c0003t0003g0073 a0005c0005t0003g0022 a0005c0005t0003g0023 a0007c0006t0001g0067 a0007c0006t0001g0074 a0007c0006t0001g0076 a0007c0006t0001g0077	15	448	0.0335	234	c.270 others(249): Show c.270-306_270-305insCCCTCGTGATCCTCGCCTCCCTCGTGATCC TCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTGCCTCGTG CTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCT CGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCT CCCTCGTGATCCTCGCCTCCCTCGTGATCCTCGCCTCCCTCGTGCTCCTC GCCT	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
URAD_chr13_27972717_27993693	27991148	T T	TGTATATG others(227): Show TGTATATGTATAGGTGTAGGTATAGGTATAGGTATAGGTATATGTATATG TATAGGTGTAGGTATAGGTATAGGTATATGTATATGTATATGTATATGTA TAGGTGTAGGTATAGGTATAGGTATAGGTATAGGTATAGGTGTAGGTATA TGTATAGGTATAGGTATAGGTATAGGTATAGGTATAGGTATAGGTATATG TATATGTATAGGTGTAGGTGTAGGTATAGGTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03225.hp2 HG02723.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	2	428	0.0047	234	c.-25 others(245): Show c.-2512_-2511insCTATACCTATACCTACACCTACACCTATACATAT ACATATACCTATACCTATACCTATACCTATACCTATACCTATACCTATAC ATATACCTACACCTATACCTATACCTATACCTATACCTATACCTACACCT ATACATATACATATACATATACATATACCTATACCTATACCTACACCTAT ACATATACATATACCTATACCTATACCTATACCTACACCTATACATATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2456		chr13	TogoVar
URAD_chr13_27972717_27993693	27991343	A A	ATAGGTAT others(227): Show ATAGGTATATGTATATGTATAGGTGTAGGTATAGGTATAGGTATAGGTAT ATGTATATGTATATGTATATGTATAGGTATATGTATATGTATAGGTATAG GTGTAGGTATATGTATATGTATAGGTGTAGGTATATGTATAGGTATAGGT ATAGTTATATGTATATGTATAGGTGTAGGTGTAGGTATAGTTATAGGTAT AGGTATAGGTATATGTATAGGTATATGTATAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	428	0.0023	234	c.-27 others(245): Show c.-2707_-2706insCACCTATACATATACCTATACATATACCTATACC TATACCTATAACTATACCTACACCTACACCTATACATATACATATAACTA TACCTATACCTATACATATACCTACACCTATACATATACATATACCTACA CCTATACCTATACATATACATATACCTATACATATACATATACATATACA TATACCTATACCTATACCTATACCTACACCTATACATATACATATACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2651		chr13	TogoVar
USP7_chr16_8887097_8968906	8953704	G G	GTGCGGCG others(227): Show GTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCA CCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAGA GGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAGAGGGAAGACACG TGCCCCCTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCG GCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0050 a0001c0001t0023g0050	1	338	0.0030	234	c.79+ others(249): Show c.79+9502_79+9503insGGGGGCACGTGTCTTCCCTCTGCCTCCGGT GGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGG GGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTC TTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCC TCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGC CGCA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(227): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0006 a0020c0019t0006	a0020c0019t0006g0001 a0020c0019t0006g0001	1	341	0.0029	234	c.35 others(243): Show c.354_*355insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCC others(227): Show CCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0059 a0004c0018t0001g0059	1	274	0.0037	234	c.200 others(251): Show c.2004+695_2004+696insCTCCTCCTCCCCCCCCTCCTCCTCCCCC CCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCT CCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(227): Show ATCATATATATATCATATCATATATATCATATATGATACATATATATATG ATACATGTATCATATATGATACATATATATCATATATATGATACATATAT ATCATATATATGATACATATATATCATATATATGATACATATATATCATA TATATGATACATATATATCATATATATGATACATATATATCTCATATATG ATACATATATATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0139 a0001c0001t0001g0141	2	340	0.0059	234	c.856 others(251): Show c.856+1989_856+1990insATATCATATCATATATATCATATATGAT ACATATATATATGATACATGTATCATATATGATACATATATATCATATAT ATGATACATATATATCATATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCTCATATATGATACATATATATCTCATATATGATACATATATATCTC ATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSTM2L_chr20_37898127_37950350	37914404	G G	GGGGGGAG others(227): Show GGGGGGAGTGTGTGTATATATATATGTGTGTGTATGTAAGTATATGTGTA TGTGTGTTTATGTGTATGTGGGTGTATCTGTGTATGTGTGTATATATGTG TGTAGGGGTGTAGGTGTGTGTACGTGTGTGGGGGGAGTATTTGGGTGTGT ATGTGTGTGTATGTGGTGTGTATATGTGGGGGGAGTGGGTGTGTGTGCGT ATGTGTGCGTATGTGTATGTACGTGTGTGCATGTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02717.hp2 others(4): Show HG02486.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG03041.hp2 HG03225.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0006g0007 others(2): Show a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0006g0007 a0002c0002t0006g0312 a0002c0002t0006g0313	7	344	0.0204	234	c.121 others(253): Show c.121+10933_121+10934insGGGGGAGTGTGTGTATATATATATGT GTGTGTATGTAAGTATATGTGTATGTGTGTTTATGTGTATGTGGGTGTAT CTGTGTATGTGTGTATATATGTGTGTAGGGGTGTAGGTGTGTGTACGTGT GTGGGGGGAGTATTTGGGTGTGTATGTGTGTGTATGTGGTGTGTATATGT GGGGGGAGTGGGTGTGTGTGCGTATGTGTGCGTATGTGTATGTACGTGTG TGCATGTC	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3			chr20	TogoVar
VSTM2L_chr20_37898127_37950350	37914404	G G	GTGTGGGG others(227): Show GTGTGGGGGGAGTGTGTGTATATATATATGTGTGTGTATGTAAGTATATG TGTATGTGTGTTTATGTGTATGTGGGTGTATCTGTGTATGTGTGTATATA TGTGTGTAGGGGTGTAGGTGTACGTGTGTGGGGGGAGTATTTGGGTGTGT ATGTGTGTGTATGTGGTGTGTATATGTGGGGGGAGTGGGTGTGTGTGCGT ATGTGTGCGTATGTGTATGTACGTGTGTGCATGTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp1 HG03041.hp1 others(3): Show HG02257.hp1 HG02896.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0071 a0001c0001t0003g0002 a0001c0001t0003g0072 others(1): Show a0001c0001t0001g0071 a0001c0001t0003g0002 a0001c0001t0003g0072 a0001c0001t0009g0070	6	344	0.0174	234	c.121 others(253): Show c.121+10939_121+10940insGGGAGTGTGTGTATATATATATGTGT GTGTATGTAAGTATATGTGTATGTGTGTTTATGTGTATGTGGGTGTATCT GTGTATGTGTGTATATATGTGTGTAGGGGTGTAGGTGTACGTGTGTGGGG GGAGTATTTGGGTGTGTATGTGTGTGTATGTGGTGTGTATATGTGGGGGG AGTGGGTGTGTGTGCGTATGTGTGCGTATGTGTATGTACGTGTGTGCATG TCTGTGGG	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
VSTM2L_chr20_37898127_37950350	37914404	G G	GTGTGGGG others(227): Show GTGTGGGGGGAGTGTGTGTATATATATATGTGTGTGTATGTAAGTATATG TGTATGTGTGTTTATGTGTATGTGGGTGTATCTGTGTATGTGTGTATATA TGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGTGGGGGGAGTATTTGGGT GTGTATGTGTGTGTGGTGTGTATATGTGGGGGGAGTGGGTGTGTGTGCGT ATGTGTGCGTATGTGTATGTACGTGTGTGCATGTC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19081.hp1 NA19090.hp2 NA18965.hp1 NA19081.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0001g0059 a0001c0001t0002g0057 a0001c0001t0002g0058	3	344	0.0087	234	c.121 others(253): Show c.121+10939_121+10940insGGGAGTGTGTGTATATATATATGTGT GTGTATGTAAGTATATGTGTATGTGTGTTTATGTGTATGTGGGTGTATCT GTGTATGTGTGTATATATGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGT GGGGGGAGTATTTGGGTGTGTATGTGTGTGTGGTGTGTATATGTGGGGGG AGTGGGTGTGTGTGCGTATGTGTGCGTATGTGTATGTACGTGTGTGCATG TCTGTGGG	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZDHHC11_chr5_790605_855986	846612	T T	TGGAAACA others(227): Show TGGAAACACCTCTCATCCTTGCGCCTCCACCGTGCTCAGGGGAAATACCT CTCGCCTGTGAGCCTCCACCATGCTCAGGGGAAACACCTCTCATCCTTGC GCCTCCACCGTGCTCAGGGGAAATACCTCTCGCCTGTGAGCCTCCACCAT GCTCAGGGGAAACACCTCTCATCCTTGCGCCTCCACCGTGCTCAGGGGAA ATACCTCTCGCCTGTGAGCCTCCACCATGCTCAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0256 a0003c0003t0003g0256	1	312	0.0032	234	c.503 others(249): Show c.503+901_503+902insCCTGAGCATGGTGGAGGCTCACAGGCGAGA GGTATTTCCCCTGAGCACGGTGGAGGCGCAAGGATGAGAGGTGTTTCCCC TGAGCATGGTGGAGGCTCACAGGCGAGAGGTATTTCCCCTGAGCACGGTG GAGGCGCAAGGATGAGAGGTGTTTCCCCTGAGCATGGTGGAGGCTCACAG GCGAGAGGTATTTCCCCTGAGCACGGTGGAGGCGCAAGGATGAGAGGTGT TTCC	ZDHHC11	ENSG00000188818.13	transcript	ENST00000283441.13	protein_coding	3/12			chr5	TogoVar
ZFPM2_chr8_105313438_105809539	105380836	G G	GTTATATA others(227): Show GTTATATATATTATAATATATATAATATATAATATATATGTTATATATAT TATAATATATATAACATATAATATATATGTTATATATATTATAATATATA TAACATATAATATATATGTTATATATATTATAATATATATAACATATAAT ATATATGTTATATATATTATAATATATATAACATATAATATATATGTTAT ATATATTATAATATATATAACATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0005 a0002c0013t0002g0005	1	92	0.0109	234	c.41- others(251): Show c.41-38245_41-38244insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATATAATATA TATGTTATATATATTATAATATATATAACATATATATTATATATTATATA TATTATAATATATATAATATATAATATATATGTTATATATATTATAATAT ATATAA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(227): Show CATATATCATATACATCACATACATCACATATATGATATATATATCATAT ACATCACATATATGATATATATATCATATATATCACATATATGATATATA TCATATATATCACATATATGATATATATCATATATATCACATATATGATA TATATATCATATATCACATATATGATATATATATCATATATCATATGATA TATATCATATATATCACATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG00735.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	2	350	0.0057	234	c.-36 others(245): Show c.-3631_-3630insATATATCATATACATCACATACATCACATATATG ATATATATATCATATACATCACATATATGATATATATATCATATATATCA CATATATGATATATATCATATATATCACATATATGATATATATCATATAT ATCACATATATGATATATATATCATATATCACATATATGATATATATATC ATATATCATATGATATATATCATATATATCACATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(227): Show AATATATAAATATATATAAAAATATATATAAATATATAAATATATATATA AATATATATAAATATATATAAATATATAAATATATATATATAAATATATA TAAATATATATAAATATATAAATATATATATATAAATATATATAAATATA TAAATATATATATAAATATATATAAATATAAATATATATATATAAATATA TATAAATATATAAATATATATAAATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18950.hp2 NA18956.hp2 others(2): Show HG00621.hp2 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0123 a0001c0001t0001g0216 a0001c0001t0001g0219 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0007g0215 a0001c0001t0007g0218	5	298	0.0168	234	c.-11 others(245): Show c.-1140_-1139insATATATAAATATATATAAAAATATATATAAATAT ATAAATATATATATAAATATATATAAATATATATAAATATATAAATATAT ATATATAAATATATATAAATATATATAAATATATAAATATATATATATAA ATATATATAAATATATAAATATATATATAAATATATATAAATATAAATAT ATATATATAAATATATATAAATATATAAATATATATAAATATAAATATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319237	C C	CATATATA others(227): Show CATATATACATATATACATATACATATATACATATACATACATATATATA CATATATACATATACATACATACATATACATACATATATATATATACATA CATACATATACATACATATATATACATATATATACATATACATACATATA TATACATATATATACATATACATACATATATACATATATACACATATACA TACATATATATACATATATACACATATACATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0146 a0003c0003t0005g0146	1	460	0.0022	234	c.-16 others(245): Show c.-1617_-1616insATATATACATATATACATATACATATATACATAT ACATACATATATATACATATATACATATACATACATACATATACATACAT ATATATATATACATACATACATATACATACATATATATACATATATATAC ATATACATACATATATATACATATATATACATATACATACATATATACAT ATATACACATATACATACATATATATACATATATACACATATACATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1234		chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326635	A A	ACCCTCAC others(227): Show ACCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCC CTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCCCTC AGCCCTCACACAGCCGCCCTCACCCTCACCCTCACACAGGCACCCTCAGC CCTCCCAAAGCCACCCTCAGCCTCACACAGCCGCCCTCACCCTCAGCCTC ACACAGGCACCCTCAGCTCTCACACAGGCACCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	400	0.0050	234	c.-53 others(243): Show c.-531_-530insCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACA GGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGC ACCCTCAGCCCTCAGCCCTCACACAGCCGCCCTCACCCTCACCCTCACAC AGGCACCCTCAGCCCTCCCAAAGCCACCCTCAGCCTCACACAGCCGCCCT CACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		358		chr19	TogoVar
ABR_chr17_998519_1184981	1173303	T T	TCCACCCC others(228): Show TCCACCCCCCAGACATCACCTCAGTCCACCCCCCACACATCACCTCAGTC CACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCA CCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACTCAACACATCACCTCAGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0241 a0001c0001t0031g0241	1	337	0.0030	235	c.61+ others(250): Show c.61+6363_61+6364insGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGG GGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTCTGGGG GGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar

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