Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(605): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCA GTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCT GGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGC GGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACC CTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTG GAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGT CAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGT CTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19030.hp1 HG04184.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0003 a0001c0001t0009 a0002c0002t0003	a0001c0001t0009g0313 a0002c0002t0003g0116 a0001c0001t0009g0313 a0002c0002t0003g0116	2	104	0.0192	612	c.103 others(629): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCA GACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACT GACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATT CCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGA GGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGC CGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACAC CAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCA CTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGA TTCCACACCAGACTGAGGGTCACTGACTGCCGCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406062	T T	TCTTCCTC others(605): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	266	0.0038	612	c.77 others(621): Show c.771_*772insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAA GGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	771		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406062	T T	TCTTCCTC others(605): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAG GCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	266	0.0038	612	c.77 others(621): Show c.771_*772insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACACTGAAGGCC TGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTG AAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	771		chr2	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(605): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA18962.hp2 NA18977.hp2 HG01361.hp2 NA18962.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0058 a0001c0001t0003g0002 a0001c0001t0003g0058	3	79	0.0380	612	c.-27 others(623): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(605): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02135.hp2 NA18962.hp1 others(9): Show HG02040.hp1 HG02135.hp2 NA18962.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA19058.hp1 NA19066.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0002 a0001c0001t0005g0005 a0001c0001t0005g0046 a0001c0001t0003g0002 a0001c0001t0005g0005 a0001c0001t0005g0046	12	88	0.1364	612	c.-27 others(623): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(605): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18953.hp2 NA19004.hp2 others(1): Show NA18948.hp2 NA18953.hp2 NA19004.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	4	80	0.0500	612	c.-27 others(623): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(605): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCTCCTCTCCCTCTCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0051 a0001c0001t0016g0051	1	77	0.0130	612	c.-27 others(623): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGAGAGGGAGAGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(605): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0096 a0002c0017t0001g0096	1	82	0.0122	612	c.153 others(631): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCAC ACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(605): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTG TCTCGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGG ATGGGTGTGCAGTGATGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	82	0.0122	612	c.153 others(631): Show c.1530-3001_1530-3000insTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCATCCCGAGACATCACTGCACACCCATCCCGTGACACCAC TGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGTGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953985	A A	ACACCCAC others(605): Show ACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCT ACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACAC AGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCC TCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACACACCCCACACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGT CCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	144	0.0069	612	c.503 others(627): Show c.503+371_503+372insGGTGTCTGTGTGGACGTGTAGGAAGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGTGTG TCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGG TGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGAACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(605): Show TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	219	0.0046	612	c.368 others(629): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTA GTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGG TATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGG CCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT AAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAG GTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(605): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACCTTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCA CACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACACCCACACTCACACTCACCCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTC CACACCCACACTC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0250 a0001c0002t0004g0250	1	220	0.0045	612	c.129 others(631): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCTTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACTCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3583360	G G	GCAGCCAC others(605): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp1 HG00738.hp2 HG02109.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0194 a0003c0003t0001g0208 a0001c0001t0001g0194 a0003c0003t0001g0208	2	252	0.0079	612	c.377 others(629): Show c.377-3432_377-3431insTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583684	G G	GCAGCCAC others(605): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0054 a0006c0006t0001g0054	1	197	0.0051	612	c.377 others(629): Show c.377-3756_377-3755insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(605): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02486.hp2 others(16): Show HG01243.hp2 HG02145.hp1 HG02486.hp2 HG02717.hp1 HG02896.hp1 HG03139.hp2 HG03540.hp1 NA18906.hp2 NA18942.hp2 NA18951.hp2 NA18984.hp2 NA18995.hp1 NA18997.hp1 NA19009.hp2 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0005c0010t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0103 others(16): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0201 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0284 a0002c0002t0001g0269 a0002c0002t0001g0281 a0002c0002t0002g0231 a0002c0002t0002g0249 a0002c0002t0002g0265 a0002c0002t0002g0278 a0002c0002t0002g0283 a0005c0010t0001g0286	19	65	0.2923	612	c.483 others(627): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(605): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCA ACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATT TACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCA CCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATC TATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCA TCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATA CACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCA CCCATCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02647.hp1 HG02257.hp1 HG02258.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0185 a0001c0001t0003g0023 a0001c0001t0003g0185	3	314	0.0096	612	c.55 others(623): Show c.5547_*5548insATGGATGGATGGGTGGATGGTTGGATGGATGGAT GGATGGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGG GTGGGTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGAC GGATGAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGG ATGGATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGAT GGGTGGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGG ATGGATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGT GGGTGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGT GAATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGG ATGGATGGGTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGAT GGATGGGTGGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MICAL3_chr22_17782649_18029561	17876784	G G	GGGAGGTT others(605): Show GGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAG GGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATG GCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGG AGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0151 a0004c0007t0003g0151	1	229	0.0044	612	c.224 others(631): Show c.2242-4762_2242-4761insATAACCTCCCTCACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCC TAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCCTAACC TCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCT AACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCT CCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATA ACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTC CCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAA GCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGGTT others(605): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAA GTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATG GAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTG AGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTA TGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAT GGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTATGGAGGTTATGGAGG TGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0017 a0011c0018t0001g0017	1	181	0.0055	612	c.224 others(631): Show c.2242-4879_2242-4878insATAACCTCCCTCACCTCCATAACCTC CATAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAAC CTCCATAACTTCTCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACC TCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCATAACCTCCATAACCTCCATAATCTCCCTA ACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCGTAA CCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877045	T T	TGGAGGTT others(605): Show TGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAAGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0068 a0002c0003t0002g0068	1	220	0.0045	612	c.224 others(631): Show c.2242-5023_2242-5022insCTCACCTCCATAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCA TAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTCACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTA ACCTCCCTAACTTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877099	G G	GGGAAGTT others(605): Show GGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGG AAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0031 a0031	a0031c0064 a0031c0064	a0031c0064t0001 a0031c0064t0001	a0031c0064t0001g0052 a0031c0064t0001g0052	1	240	0.0042	612	c.224 others(631): Show c.2242-5077_2242-5076insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCATAACTTCCCTAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATA ACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAATCTCCCTAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877191	G G	GAGGTTAG others(605): Show GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGG AGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTT ATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGCTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGT TAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGAGAAGTTATGGAGGTT AGGGAGGTTATGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	272	0.0037	612	c.224 others(631): Show c.2242-5169_2242-5168insTCATAACCTCCCTAACCTCCATAACT TCTCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCT CCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTC CCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGCTCCCTAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCAT AAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCCTAACCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(605): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18967.hp2 NA18747.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0181 a0001c0001t0001g0026 a0001c0001t0001g0181	2	148	0.0135	612	c.315 others(629): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGC CCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTG CATTTTATTAAATATAGCGGGCCCCTTTTGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(605): Show TGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTC GGCCCTCCTGCCCTGCCAGCCGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCAGGATGGAGGTGGGGGGGGGGTCAGTCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCCGCCTGGCC AGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	32	0.0313	612	c.241 others(631): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGG GACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GACTGACCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(605): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0270 a0002c0002t0002g0270	1	165	0.0061	612	c.394 others(627): Show c.394-573_394-572insGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(605): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATGTATATATTCATATATATGTTCATGTATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATGT TCATATATATATT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	165	0.0061	612	c.394 others(627): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT GTATATATTCATATATATGTTCATGTATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYDGF_chr19_4652545_4675342	4663565	C C	CCCTCATT others(605): Show CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCAT TCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAG CCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCC AATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCT ACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCT CCCCACCCCATCCTCATTCTACAGCCTCCAACCTGTGCACTCTCCACCCA CCCCATCCTCATTCTACACAGCCTCCAATCTATCCTCCCCACCCACCCCA CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCAT TCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAG CCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAA TCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTAC CCTCCCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCC CCACCCACCCCAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	218	0.0046	612	c.287 others(629): Show c.287+1310_287+1311insATGGGGTGGGTGGGGAGGGTAGATTGGA GGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTG TGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAA TGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGAT GGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGG GTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGA GGATAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGTGCA CAGGTTGGAGGCTGTAGAATGAGGATGGGGTGGGGAGGGTAGATTGGAGG CTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTG TAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAA TGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGAT GGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGG GTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(605): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTAT GTATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAG TATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTAT GTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTA TACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	118	0.0085	612	c.-75 others(631): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATA CAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAG TATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACT GCATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACATACAGTATACATACATACAGTATACATACATACAGTAT ACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACACA GTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NPDC1_chr9_137034463_137051177	137050042	G G	GCCGCCAC others(605): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCC ACGACAAAGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	326	0.0031	612	c.-40 others(623): Show c.-4054_-4053insGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTA GGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTG GCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGT CGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGG AACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGG TGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGAGTAGGGGCAGGCGGGTGGCGG	NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding		3866		chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(605): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTT TTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATA GTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTT TAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAG TTTTAAACTACGTAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTTA AACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTA CGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAA ACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTT TAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0235 a0001c0005t0001g0235	1	38	0.0263	612	c.342 others(631): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACGTAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACGTAG TTTAAAACTATATAGTTTAAAACTACGTAGTTTAAAACTATATAGTTTAA AACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGT TTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAA ACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAA CTATATAGTTTAAAACTATATAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATA TAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTA TATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAAC TATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TTCCTCTC others(605): Show TTCCTCTCCCTCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCTCTCC TCTCCTCTCCTCTCCTCTCCCTCTCCTCTCCTCTCCTCTCCTCCTCCCTC TCCTCTCCTCTCATCTCCTCCTCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCTCTCCTTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCATCCTCTCCTCT CCTCATCCTCTCCTCTCCTCTCCTCTCCTCCTCCTCCTCTCCTATCCTCT CCTCTCCTCCTCTCCTCCTCCTCTCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCCTCCCTCTCCCCTCCCTCTCCTCCCCTCCCCTCCCACC CTCCCCCCCTCCCCTTCCCCTCCCTCCCCTCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCCCCTTCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCCTTCCCCTTCCCTCT CCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0130 a0001c0001t0033g0130	1	206	0.0049	612	c.433 others(629): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGAGGGGGAGGGGAGGGGA AGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGG GAAGGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGGAGGG GAGGGAGGGGAGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGG GAGGAGAGGGAGGGGAGAGGGAGGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGAGAGGAGGAGGAGAGGAGGAGAGGAGAGGATAGGAGAGG AGGAGGAGGAGAGGAGAGGAGAGGAGAGGATGAGGAGAGGAGAGGATGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAAGGAGAGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGAGGAGGAGATGAGAGGAGAGGAGAGGGAGGAGGAGAG GAGAGGAGAGGAGAGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGAGGGAGAGGA	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841603	C C	CGACCACG others(605): Show CGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACCCA CAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACA GCGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCATGGCACATCTCAC GCCGGTGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAG GTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACC ACGGCGCATCTCACACAGGCGAGCAGGTCCCCCCGACCACGGCGCATCTC ACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGC AGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGA CCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATC TCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGA GCAGGTCCTCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	151	0.0066	612	c.361 others(631): Show c.361-15526_361-15525insAGGGAGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCTCGCCTGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCTCACCGGCGTGAGATGTGCCA TGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATG CGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(605): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	59	0.0169	612	c.155 others(631): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(605): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCGCCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	59	0.0169	612	c.155 others(631): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(605): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0150 a0001c0001t0018g0150	1	59	0.0169	612	c.155 others(631): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGG AGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGC GACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(605): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTACTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0029 a0029	a0029c0031 a0029c0031	a0029c0031t0001 a0029c0031t0001	a0029c0031t0001g0035 a0029c0031t0001g0035	1	148	0.0068	612	c.292 others(627): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTACTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(605): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCTCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0175 a0020c0017t0001g0175	1	148	0.0068	612	c.292 others(627): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RX5_chr17_3668227_3701155	3686319	G G	GAGAACAG others(605): Show GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	249	0.0040	612	c.981 others(629): Show c.981+1692_981+1693insGAGGCTGGGCGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGC GGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGCGTTCT CCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGG GGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGAC GTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCT GGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCG TTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCC TGGGGGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGG GGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGA GGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTG TGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGG TCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(605): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0018 a0001c0001t0049g0018	1	87	0.0115	612	c.773 others(627): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTTCCTTC others(605): Show CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCC TTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTC CCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCC CTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCT TTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	131	0.0076	612	c.773 others(627): Show c.773+645_773+646insTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCC TCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTC CCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(605): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	182	0.0055	612	c.-26 others(623): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PLD4_chr14_104919879_104938236	104933612	C C	CGGGAGGG others(605): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGA GGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGG AGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGAC CCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCG GGAGGGCGGGAGGGGACCTGCGACTGAGGGGACAGGGAGGGCGGGAGGCG ACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGGGACCCGCGGCTGAGGGGA CAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGG GACCCGCGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGGG GACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAG GGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGA GTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0003 a0010c0011t0001g0003	1	328	0.0030	612	c.64 others(621): Show c.648_*649insGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGG GAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCT GAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGG CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGG GCTGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAG GGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGG GCTGAGGGGACCGGGAGGGCGGGAGGGGACCTGCGACTGAGGGGACAGGG AGGGCGGGAGGCGACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGGGACCC GCGGCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGG GAGGGTGGGAGGGGACCCGCGGCTGAGGGGACCGGGAGGGCGGGAGGGGA GCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAG GGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGC GACCCGGGGCTGAGTGAGGGGAGGGT	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		377		chr14	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(605): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATATATAT GTATATATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAG GAAAAGGGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCT CAGGTGTTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGT GGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0096 a0003c0003t0004g0096	1	63	0.0159	612	c.98- others(627): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATATATATGTATATATA TATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGG TTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTT CTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGA GGACAAAAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPM1E_chr17_58750854_58990179	58905024	C C	CAAAAAAC others(605): Show CAAAAAACAAACAAACAGAGAGCTGTTTCCGTTCCTCTGCCCGCCATGCC GTTCCTGGAGCTGGACACGAATTTGCCCGCCAACCGAGTGCCCGCGGGGC TGGAGAAACGACTCTGCGCCGCCGCTGCCTCCATCCTGGGCAAACCTGCG GACCGCGTGAACGTGACGGTACGGCCGGGCCTGGCCATGGCGCTGAGCGG GTCCACCGAGCCCTGCGCGCAGCTGTCCATCTCCTCCATCGGCGTAGTGG GCACCGCCGAGGACAACCGCAGCCACAGCGCCCACTTCTTTGAGTTTCTC ACCAAGGAGCTAGCCCTGGGCCAGGACCGGATACTTATCCGCTTTTTCCC CTTGGAGTCCTGGCAGATTGGCAAGATAGGGACGGTCATGACTTTTTTAT GATTGGGCACGGAGGGATCCAGGGCATCTGTGAACTGGCTGCTTCTTCCA GAGAGATCTCTTGGCAGAGTGAGGGCCTGGAGATAACCAGCTTTGGATTA TCCCGCATGCAACATTCCTGTGATCACATAATCCTCTTCTTCATCCTCAT ATGAAATAAATGAAGAGAGCTTCCTCATTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0122 a0001c0004t0018g0122	1	308	0.0032	612	c.465 others(631): Show c.465-50609_465-50608insGAGAGCTGTTTCCGTTCCTCTGCCCG CCATGCCGTTCCTGGAGCTGGACACGAATTTGCCCGCCAACCGAGTGCCC GCGGGGCTGGAGAAACGACTCTGCGCCGCCGCTGCCTCCATCCTGGGCAA ACCTGCGGACCGCGTGAACGTGACGGTACGGCCGGGCCTGGCCATGGCGC TGAGCGGGTCCACCGAGCCCTGCGCGCAGCTGTCCATCTCCTCCATCGGC GTAGTGGGCACCGCCGAGGACAACCGCAGCCACAGCGCCCACTTCTTTGA GTTTCTCACCAAGGAGCTAGCCCTGGGCCAGGACCGGATACTTATCCGCT TTTTCCCCTTGGAGTCCTGGCAGATTGGCAAGATAGGGACGGTCATGACT TTTTTATGATTGGGCACGGAGGGATCCAGGGCATCTGTGAACTGGCTGCT TCTTCCAGAGAGATCTCTTGGCAGAGTGAGGGCCTGGAGATAACCAGCTT TGGATTATCCCGCATGCAACATTCCTGTGATCACATAATCCTCTTCTTCA TCCTCATATGAAATAAATGAAGAGAGCTTCCTCATTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAACAAACAAACA	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(605): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCC CCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCT CCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTC TCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCA CTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCT CTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCC TCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGT CCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCC CTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCT CCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0071 a0001c0004t0007g0071	1	148	0.0068	612	c.439 others(631): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTC TCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCC TCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCC TCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTC CCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCC CTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCT CTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTC TCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGT CCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTC CCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCC CTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(605): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCC TCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTT TCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTC TGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCT TCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCT CTCCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCC TCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTC TCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCT CCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCT CCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0023 a0001c0001 a0010c0023	a0001c0001t0082 a0010c0023t0025 a0001c0001t0082 a0010c0023t0025	a0001c0001t0082g0067 a0010c0023t0025g0007 a0001c0001t0082g0067 a0010c0023t0025g0007	2	149	0.0134	612	c.439 others(631): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCAC CTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCCTCTCTCCC CTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCC TTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCC TCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCT CTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCCTTCT CTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCAT CCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCC TCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCT CCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABEP2_chr16_28899421_28930238	28915157	T T	TCAGCCAT others(605): Show TCAGCCATTCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACA CACCAACATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTCAC CATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGGGCCCGGC TTTTTTTTTTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCA TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGT CAAGAGATCGAGACCATCTGGCCAACATGGTGAAACCCCGTCTCTATTAA AAGTATAAAAATTAGCTGGGCGTGGGTGGCAGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCTTTGAACCCGGGAGGCGGGGGTTG CAGCGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAG ATGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTT CTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCC TCATCTCCAGGAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	364	0.0027	612	c.433 others(627): Show c.433-376_433-375insGTCCTGGAGATGAGGGCTACAGTGAGACGC GACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGACCTCATCTCT TTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGTTGCCCAG GCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGCCTCCCGG GTTCAAAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCTGCCACCCACGCCCAGCTAATTTTTATACTTTTAATAGAGACGGGGTT TCACCATGTTGGCCAGATGGTCTCGATCTCTTGACCTTGTGATCCGCCTG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCGG CCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCCCGTGGTGGC TCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGA GGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAACCCCATCTCTAC TAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATAGTCCCAG CTCCTGGGGAGGCTGAGGCAGGAGAATGGCTG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(605): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CAAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCA GGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAG GACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18967.hp1 HG01167.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0210 a0001c0001t0001g0086 a0001c0001t0001g0210	2	126	0.0159	612	c.433 others(627): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCG TGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAG ATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCC ATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTAT AGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(605): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCA GGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAG GACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04204.hp2 NA18948.hp2 others(2): Show HG00741.hp1 HG04204.hp2 NA18948.hp2 NA18956.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0168	5	129	0.0388	612	c.433 others(627): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCG TGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAG ATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCC ATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTAT AGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(605): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCA GGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAG GACTCGAGCCATC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19004.hp1 NA18989.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0177 a0001c0001t0003g0165 a0001c0001t0001g0177 a0001c0001t0003g0165	2	126	0.0159	612	c.433 others(627): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGA CTACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCG TGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAG ATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCC ATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTAT AGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(605): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCA GGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAG GACTCGAGCCATC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	125	0.0080	612	c.433 others(627): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAGCCGGGCG TGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAG ATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCC ATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTAT AGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar

Search by Variant

Search

Search Results