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
CFAP61_chr20_20047532_20365698	20320519	A A	AATATATG others(1079): Show AATATATGTAATATATATTATATATGTAATATAATATATGTAATATATAT TATATATGTAATATATATTACATATATTATATATGCAATATATATTATAT ATATTATATATGCAATATATATTATATATATTATATATGCAATATATATT ATATATATTATATATGCAATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATATTACATATGTAATATATATTA CATATGTAATATATAATATATTATATATTACATATGTAATATATAATATA TATTACATATGTAATATATTATATATATTACATATGTAATATATAATATA TATTACATATGTAATATATAATATATTACATATGTAATATATAATATATT ACATATGTAATATATATAATATATTACATATGTAATATATATTACATATA TAATATATATAATATATATGTAATATATTATATATATTATATATGTAATA TATATTACATATATAATATATATTATATATATTACATATATTATATATGT AATATATATTACATATGTAATATATGTAATATATATTACATATGTAATAT ATATTATATATGTAATATATATTACATATATTATATATGTAATATATATT ATATATATTATATATGTAATGTATAATATATATATTATATATGTAATATA TATTATATATAATATATGTAATATATATTATATATGTAATGTATATTATA TATATTATATATGTAATGTATATTATATATAATATATGTAATGTATATTA TATATGTAATATATATTATATATATTATATATGTAATATATATTATATAT ATTATATATGTAATATATATTATATATATTATATATGTAATATATATTAT ATATATTATATATGTAATATATATTATATATATTATATATGTAATATATA TTATATATATTATATATGTAATATATATTATATATATTATATATGTAATA TATATTATATATATTATATATGTAATATATATTATATATATTATATATGT AATATATATTATATATATTATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0172 a0001c0012t0002g0172	1	177	0.0056	1086	c.342 others(1107): Show c.3423-21306_3423-21305insGTAATATATATTATATATGTAATA TAATATATGTAATATATATTATATATGTAATATATATTACATATATTATA TATGCAATATATATTATATATATTATATATGCAATATATATTATATATAT TATATATGCAATATATATTATATATATTATATATGCAATATATATTATAT ATGCAATATATATTATATATATTATATATGCAATATATATTATATATATT ACATATGTAATATATATTACATATGTAATATATAATATATTATATATTAC ATATGTAATATATAATATATATTACATATGTAATATATTATATATATTAC ATATGTAATATATAATATATATTACATATGTAATATATAATATATTACAT ATGTAATATATAATATATTACATATGTAATATATATAATATATTACATAT GTAATATATATTACATATATAATATATATAATATATATGTAATATATTAT ATATATTATATATGTAATATATATTACATATATAATATATATTATATATA TTACATATATTATATATGTAATATATATTACATATGTAATATATGTAATA TATATTACATATGTAATATATATTATATATGTAATATATATTACATATAT TATATATGTAATATATATTATATATATTATATATGTAATGTATAATATAT ATATTATATATGTAATATATATTATATATAATATATGTAATATATATTAT ATATGTAATGTATATTATATATATTATATATGTAATGTATATTATATATA ATATATGTAATGTATATTATATATGTAATATATATTATATATATTATATA TGTAATATATATTATATATATTATATATGTAATATATATTATATATATTA TATATGTAATATATATTATATATATTATATATGTAATATATATTATATAT ATTATATATGTAATATATATTATATATATTATATATGTAATATATATTAT ATATATTATATATGTAATATATATTATATATATTATATATGTAATATATA TTATATATATTATATATGTAATATATATTATATATATTATATATGTAATA TATATTATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320519	A A	ATAATATA others(1079): Show ATAATATATGTAATATATATTATATATGTAATATATATAATATATGTAAT ATATATTATATATGTAATATATAATATATGTAATATATATTATATATGTA ATATAATATATGTAATATATATTATATATGTAATATATATTACATATATT ATATATGCAATATATATTACATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATATTATATATGCAATATATATTA TATATGCAATATATATTATATATATTATATATGCAATATATATTATATAT ATTACATATGTAATATATATTACATATGTAATATATAATATATTATATAT TACATATGTAATATATAATATATATTACATATGTAATATATAATATATAT TACATATGTAATATATAATATATATTACATATGTAATATATTATATATTA CATATGTAATATATATAATATATTACATATGTAATATATAATATATTATA TATGTAATATATATTACATATATAATATATATAATATATATGTAATATAT TATATATATTATATATGTAATATATATTACATATATAATATATATTATAT ATATTACATATATTATATATGTAATATATATTACATATGTAATATATGTA ATATATATTACATATGTAATATATATTATATATGTAATATATATTACATA TATTATATATGTAATATATATTATATATATTATATATGTAATGTATAATA TATATATTATATATGTAATATATATTATATATATTATATATGTAATGTAT ATTATATATATTATATATGTAATGTATATTATATATTATATATGTAATGT ATATTATATATAATATATGTAATGTATATTATATATGTAATATATATTAT ATATATTATATATGTAATATATATTATATATATTATATATGTAATATATA TTATATATATTATATATGTAATATATATTATATATATTATATATGTAATA TATATTATATATATTATATATGTAATATATATTATATATATTATATATGT AATATATATTATATATATTATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0080 a0003c0005t0001g0080	1	177	0.0056	1086	c.342 others(1107): Show c.3423-21312_3423-21311insTAATATATGTAATATATATTATAT ATGTAATATATATAATATATGTAATATATATTATATATGTAATATATAAT ATATGTAATATATATTATATATGTAATATAATATATGTAATATATATTAT ATATGTAATATATATTACATATATTATATATGCAATATATATTACATATA TTATATATGCAATATATATTATATATATTATATATGCAATATATATTATA TATATTATATATGCAATATATATTATATATGCAATATATATTATATATAT TATATATGCAATATATATTATATATATTACATATGTAATATATATTACAT ATGTAATATATAATATATTATATATTACATATGTAATATATAATATATAT TACATATGTAATATATAATATATATTACATATGTAATATATAATATATAT TACATATGTAATATATTATATATTACATATGTAATATATATAATATATTA CATATGTAATATATAATATATTATATATGTAATATATATTACATATATAA TATATATAATATATATGTAATATATTATATATATTATATATGTAATATAT ATTACATATATAATATATATTATATATATTACATATATTATATATGTAAT ATATATTACATATGTAATATATGTAATATATATTACATATGTAATATATA TTATATATGTAATATATATTACATATATTATATATGTAATATATATTATA TATATTATATATGTAATGTATAATATATATATTATATATGTAATATATAT TATATATATTATATATGTAATGTATATTATATATATTATATATGTAATGT ATATTATATATTATATATGTAATGTATATTATATATAATATATGTAATGT ATATTATATATGTAATATATATTATATATATTATATATGTAATATATATT ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATTATATATATTATATATGTAATATATATTATATATATTATATATGTAA TATATATTATATATATTATATATGTAATATATATTATATATATTATATAT GTAATATATATT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
DIP2C_chr10_269201_694668	516644	A A	ACGGGGTA others(1079): Show ACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGG GTAGGGTGGGGGGGGGGACAGGGGTAGGGTGGGGGGGGGACAGGGGTAGG GTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGGACAGGGGTAGGG TGGGAGGGGGGGACAGGGGGTAGGGTGGGGGGGGACGGGGTAGGGTGGGG GGGGGACGGGGTAGGGTGGGAGGGGACAGGGGGTAGGGTGGGAGGGGGGG ACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGG ACAGGGGTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGGGGGGGACAG GGGTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGG GTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTA GGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGG TGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGACAGGGGGTAGGGTGG GAGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGA GGGGGGGACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGG GGGGACAGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGG ACAGGGGTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGAC AGGGGTAGGGTGGGAGGGGGGACAGGGGTAGGGTGGGAGGGGGGACAGGG GTAGGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACGGGGTA GGGTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGACAGGGGTAGG GTGGGAGGGGGGGACAGGGGTAGGGTGGGAGGGGGGGGACGGGGTAGGGT GGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAG GGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGG ACAGGGGGTAGGGTGGGGGGGGGCACAGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	19	0.0526	1086	c.86- others(1103): Show c.86-30115_86-30114insCCCTACCCCCTGTGCCCCCCCCCACCCT ACCCCCTGTCCCCCCCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCC CGTCCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCC CCCCCTCCCACCCTACCCCGTCCCCCCCCTCCCACCCTACCCCTGTCCCC CCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCTGTCCCCCC CTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCTC CCACCCTACCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCCTCCCAC CCTACCCCTGTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCC TACCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCCTCCCACCCTACC CCTGTCCCCCCCTCCCACCCTACCCCTGTCCCCCCTCCCACCCTACCCCT GTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCCTG TCCCCCCTCCCACCCTACCCCCTGTCCCCCCTCCCACCCTACCCCTGTCC CCCCTCCCACCCTACCCCTGTCCCCCCTCCCACCCTACCCCTGTCCCCCC CTCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCTC CCACCCTACCCCTGTCCCCCCCTCCCACCCTACCCCTGTCCCCCCCTCCC ACCCTACCCCTGTCCCCCCCCCACCCTACCCCTGTCCCCCCCTCCCACCC TACCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCT ACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCTCCCACCCTACC CCGTCCCCCCCCCACCCTACCCCGTCCCCCCCCACCCTACCCCCTGTCCC CCCCTCCCACCCTACCCCTGTCCCCCCCCTCCCACCCTACCCCTGTCCCC CCCTCCCACCCTACCCCTGTCCCCCCCCCACCCTACCCCTGTCCCCCCCC CCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTCCCCCCCTCCCACC CTACCCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1079): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGG AGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGG AGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGG AGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG GAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAG GAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGGGGAGGAGGAGGGA GGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0025 a0025	a0025c0048 a0025c0048	a0025c0048t0001 a0025c0048t0001	a0025c0048t0001g0170 a0025c0048t0001g0170	1	98	0.0102	1086	c.118 others(1105): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCC TTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCCTCCCTCCTCCTCCCCCCTCCTCCCTCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCC TCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCC TCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCC TCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTC CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1079): Show AGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGA GGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGA GGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGG AGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0035 a0035	a0035c0030 a0035c0030	a0035c0030t0001 a0035c0030t0001	a0035c0030t0001g0054 a0035c0030t0001g0054	1	98	0.0102	1086	c.118 others(1105): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTC CTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTC CTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCC TCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCT CCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTC CCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCC CCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCT CCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCT CCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTC CTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK1_chr10_126900428_127457516	126948286	G G	GTGGTGGT others(1079): Show GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGGTGGTAGTAT TACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACT GTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT TGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG01884.hp2 HG02922.hp2	a0001 a0001	a0001c0025 a0001c0038 a0001c0025 a0001c0038	a0001c0025t0002 a0001c0038t0001 a0001c0025t0002 a0001c0038t0001	a0001c0025t0002g0025 a0001c0038t0001g0076 a0001c0025t0002g0025 a0001c0038t0001g0076	2	134	0.0149	1086	c.47- others(1103): Show c.47-22386_47-22385insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGGTGGTAGTATTACTGTTGG TGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAG TATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGT TGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTCCACCC others(1079): Show CTCCACCCAACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTTCCCC CCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACC CTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCC GCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCC TCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCGACCCTCCTCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCACCC TCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCC CGACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCTGACCC TCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCTGACCCTCCTCT GCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCT CAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAG CCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCC CAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTC CACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCA CCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT CTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGG AAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAAGCTG CCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCACC CTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACC CCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0130 a0001c0005t0001g0130	1	52	0.0192	1086	c.13 others(1097): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGT GGGCAGCTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAG CTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCT GAGGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATG CAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGA GGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG TTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGGGTGGGC AGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCC CTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGA TGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGA GGAGGGTCAGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGG TCGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGG TGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGTGGAGGGTGGGCA GGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCT TGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGA TGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAG GAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGT CGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTTGGGTG GA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EML1_chr14_99788413_99947060	99927921	G G	GTGGTGGT others(1079): Show GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTAT TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTATTGGTGGTGGTGATGGT GGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGGGGTGGGGGTGG GGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGTTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGATGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	277	0.0036	1086	c.190 others(1105): Show c.1909+7052_1909+7053insGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTATTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTATT GGTGGTGGTGATGGTGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGG TGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGTTGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGATGGTGG TGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ETHE1_chr19_43501719_43532201	43517389	C C	CAGCACTT others(1079): Show CAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAG ACCAGTCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATATAAAAA TTAGCTGGGTGTTATGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAAGAGAATCGCGTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAA CATCGCACCACTGTACTACAGCCTGGGCAACACAGTGAGGCTCCATCTTG GAAAAAAACATATATATGTATAAAATGCATTTTTTTAAAGACAGGGCCTC ACACTGTACCCAGGCTGGAGTACAGTGGCGCAATCATATCTCACTGCTGC CTGAACTCCCAGGCTCAAGCGATCCTCCCACACCAGCCTTTCCAGTAGCC GGGACTATAGGCGCACCAGCATGCCTGGCTAATTTGTTTTTAATTTTTTG TAGAGACAGGGTCTTGCAGTGTTGCCCAGGCTGGTCTCAAATACCTGGGC TCAAACTATCCTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCAT GAACCACTGTGCCCAGCCTATTACTATTATTTATTTTTTTTTTTTTGAGA CGGAATCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGAACTCGGC TCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACCATCACACCCAGCTAATTTTT TTTGTATTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTC TCCATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGG GATTATAGGCGTGAGCCACCGCGCCTGGCCTTATTATTATTAACTAATAC AAAAATATCTACAATCTACTTCAGTTCATAGGAAAGAAAAGTTTTAATAA GACAAATTAAATGACACACCATGAGGAAACAGTCGAACACGTCTAGAATG TGGAATATTTTAGAAGACAGCATGTCAGGAAGCTTCAAAAGTCAATACCC TGGAGGGCCAAGCACAGTGGCTGATGCCTGTAATCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	176	0.0057	1086	c.376 others(1103): Show c.376-5824_376-5823insAGGATTACAGGCATCAGCCACTGTGCTT GGCCCTCCAGGGTATTGACTTTTGAAGCTTCCTGACATGCTGTCTTCTAA AATATTCCACATTCTAGACGTGTTCGACTGTTTCCTCATGGTGTGTCATT TAATTTGTCTTATTAAAACTTTTCTTTCCTATGAACTGAAGTAGATTGTA GATATTTTTGTATTAGTTAATAATAATAAGGCCAGGCGCGGTGGCTCACG CCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCA GGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAA AAATACAAAAAAAATTAGCTGGGTGTGATGGTGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGC TTGCAGTGAGCCGAGTTCATGCCACTGCACTCCAACCTGGGTGACAGAGC GAGATTCCGTCTCAAAAAAAAAAAAATAAATAATAGTAATAGGCTGGGCA CAGTGGTTCATGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGTGGGAGG ATAGTTTGAGCCCAGGTATTTGAGACCAGCCTGGGCAACACTGCAAGACC CTGTCTCTACAAAAAATTAAAAACAAATTAGCCAGGCATGCTGGTGCGCC TATAGTCCCGGCTACTGGAAAGGCTGGTGTGGGAGGATCGCTTGAGCCTG GGAGTTCAGGCAGCAGTGAGATATGATTGCGCCACTGTACTCCAGCCTGG GTACAGTGTGAGGCCCTGTCTTTAAAAAAATGCATTTTATACATATATAT GTTTTTTTCCAAGATGGAGCCTCACTGTGTTGCCCAGGCTGTAGTACAGT GGTGCGATGTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCACGCGATTC TCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCATAACA CCCAGCTAATTTTTATATTTTTAGTAGAGACGGTGTTTCACTATGTTGGC CAGACTGGTCTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCC AAAGTGCT	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	3/6			chr19	TogoVar
ETHE1_chr19_43501719_43532201	43517389	C C	CAGGACTT others(1079): Show CAGGACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAG ACCAGTCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATATAAAAA TTAGCTGGGTGTTATGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAAGAGAATCGCGTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAA CATCGCACCACTGTACTACAGCCTGGGCAACACAGTGAGGCTCCATCTTG GAAAAAAACATATATATGTATAAAATGCATTTTTTTAAAGACAGGGCCTC ACACTGTACCCAGGCTGGAGTACAGTGGCGCAATCATATCTCACTGCTGC CTGAACTCCCAGGCTCAAGCGATCCTCCCACACCAGCCTTTCCAGTAGCC GGGACTATAGGCGCACCAGCATGCCTGGCTAATTTGTTTTTAATTTTTTG TAGAGACAGGGTCTTGCAGTGTTGCCCAGGCTGGTCTCAAATACCTGGGC TCAAACTATCCTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCAT GAACCACTGTGCCCAGCCTATTACTATTATTTATTTTTTTTTTTTTGAGA CGGAATCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGAACTCGGC TCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACCATCACACCCAGCTAATTTTT TTTGTATTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTC TCCATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGG GATTATAGGCGTGAGCCACCGCGCCTGGCCTTATTATTATTAACTAATAC AAAAATATCTACAATCTACTTCAGTTCATAGGAAAGAAAAGTTTTAATAA GACAAATTAAATGACACACCATGAGGAAACAGTCGAACACGTCTAGAATG TGGAATATTTTAGAAGACAGCATGTCAGGAAGCTTCAAAAGTCAATACCC TGGAGGGCCAAGCACAGTGGCTGATGCCTGTAATCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02922.hp1 NA19055.hp2 HG01168.hp2 HG02922.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0098 a0001c0001t0001g0146 a0001c0001t0001g0184	3	178	0.0169	1086	c.376 others(1103): Show c.376-5824_376-5823insAGGATTACAGGCATCAGCCACTGTGCTT GGCCCTCCAGGGTATTGACTTTTGAAGCTTCCTGACATGCTGTCTTCTAA AATATTCCACATTCTAGACGTGTTCGACTGTTTCCTCATGGTGTGTCATT TAATTTGTCTTATTAAAACTTTTCTTTCCTATGAACTGAAGTAGATTGTA GATATTTTTGTATTAGTTAATAATAATAAGGCCAGGCGCGGTGGCTCACG CCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCA GGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAA AAATACAAAAAAAATTAGCTGGGTGTGATGGTGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGC TTGCAGTGAGCCGAGTTCATGCCACTGCACTCCAACCTGGGTGACAGAGC GAGATTCCGTCTCAAAAAAAAAAAAATAAATAATAGTAATAGGCTGGGCA CAGTGGTTCATGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGTGGGAGG ATAGTTTGAGCCCAGGTATTTGAGACCAGCCTGGGCAACACTGCAAGACC CTGTCTCTACAAAAAATTAAAAACAAATTAGCCAGGCATGCTGGTGCGCC TATAGTCCCGGCTACTGGAAAGGCTGGTGTGGGAGGATCGCTTGAGCCTG GGAGTTCAGGCAGCAGTGAGATATGATTGCGCCACTGTACTCCAGCCTGG GTACAGTGTGAGGCCCTGTCTTTAAAAAAATGCATTTTATACATATATAT GTTTTTTTCCAAGATGGAGCCTCACTGTGTTGCCCAGGCTGTAGTACAGT GGTGCGATGTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCACGCGATTC TCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCATAACA CCCAGCTAATTTTTATATTTTTAGTAGAGACGGTGTTTCACTATGTTGGC CAGACTGGTCTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCC AAAGTCCT	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	3/6			chr19	TogoVar
FHIT_chr3_59742277_61256452	60551538	G G	GGGGAGGA others(1079): Show GGGGAGGAGGGGAGATGGGAGGGGGGGAGGAGGGAGGGGAGGAGGGGAGG GGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAG GGGAGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAA GAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGAGGGGAGGGGAG GGGAGCGGGGAGGAGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGGGAG GAGGAGAGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGA GGAGGGGAGGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGGGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGGGAGGAG GGGGAGGGGGAGGGGAGGGGAGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGG GAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAG GGGAGGGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGAGGGGAGGGGGA GGGGAGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAAG GGAGGGGGAGGAGGGGGGAGTAGGGGAGGGGAGGGGGAGGAGGGGGAGGA GGAGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGGAGGAG GGAGGGAGGGGGAGGAGGGGGGGAGGAGGGGGAGGAGGGAGGGGAGGGGA GGAGGGGAGGGGAGGGGGAGGAGGGGGAAGGAGGGGGAGGAGGGGGGAGG AGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGGGAGGG GAGGGGAGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGAGGAGGGGGGA GGAGGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGG AGGAGGGGAGGGGGAGGAGGAGAGGGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	37	0.0270	1086	c.-17 others(1105): Show c.-17-14560_-17-14559insTCCTCCCCCTCCCCTCTCCTCCTCCC CCTCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCTCCCCCTCCTCCCCC CTCCTCCCCCTCCTCCCCCCTCCTCCCCCTCCTTCCCCCTCCTCCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCTCCTCCCCCTCCTCCCCCCCTCCTC CCCCTCCCTCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCTCCCCTCCCC TCCTCCCCTCCTCCTCCCCCTCCTCCCCCTCCCCTCCCCTACTCCCCCCT CCTCCCCCTCCCTTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTCCCCTC CCCCCCTCCCCTCCCCCTCCCCTCCTCCCCTCCCCTCCCCCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTCCTCCCC CTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCC TCCTCCCCGCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCTCCCC TCCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCCCC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCC TCCCTCTCCTCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTCCCTCC TCCCCGCTCCCCTCCCCTCCCCTCCCTTCTTCCCCTCCCCTCCCCTCCTC CCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCT CCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT TCTTCCCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCCCCCTCCCATCTC CCCTCCTCCC	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
HPCAL1_chr2_10297904_10432604	10399379	C C	CCACCACC others(1079): Show CCACCACCACCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCATCATCACCACCAT CACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCA CCATCACCACCACCACCACCATCACCACCACCATCACCATCACCACCACC ACCACCACCACCACCATCATCACCACCATCACCATCACCACCACCACCAC CACCACCACCACCACCATCATCACCACCATCACCATCACCACCACCACCA CCACCACCACCACCATCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCATCACCACCACCACCACCATCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCACCATCACCATCACCACCACCACCACCATCACCATCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCATCACCATCACCACC ACCACCACCATCACCATCATCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCACCATCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCATCACCATCACCACCACCAC CACCATCACCATCACCACCACCACCACCATCACCATCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	281	0.0036	1086	c.-25 others(1103): Show c.-25+2470_-25+2471insTCACCACCACCACCACCACCACCATCAC CATCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCA TCACCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCACCACCACCACCATCATCACCACCATCACCATCACCA CCACCACCACCACCACCACCACCACCATCATCACCACCATCACCATCACC ACCACCACCACCACCACCACCACCATCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACC ACCATCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCATCACCATCA CCATCACCACCACCACCACCATCACCATCACCACCACCACCACCATCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CATCACCACCACCACCACCATCACCATCATCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCATC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCATCACCATCACCATCA CCACCACCACCACCATCACCATCACCACCACCACCACCATCACCATCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCATCAC CACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399424	T T	TCATCACC others(1079): Show TCATCACCACCATCACCACCGCCACCACCACCACCATCACCACCGCCACC ACCACCACCATCACCACCACCACCACCATCACCATCACCACCACCATCAC CACCACCACCACCATCGCCGCCACCACCACCACCATCGCCACCACCACCA CCACCACCATCACCACCACCATCATCACCACCACCACCATCGCCGCCACC ACCACCACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCATCATCACCACCACCACCATCGCCGCCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCATCAC CACCACCACCATCGCCGCCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCATCATCACCACCACCACCATCGCCGCCACCACC ACCACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCACCAC CACCATCGCCACCACCACCACCACCATCACCACCACCACCACCATCACCA CCATCACCACCACCATCATCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCATCACCACCACCACCACCATCATCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCATCA CCACCACCACCACCATCATCACCACCACCACCACCACCACCACCATCACC ACCACCATCACCACCACCATCATCACCGCCACCACCACCACCACCATCAC CACCACCACCACCATCATCACCACCACCACCACCACCACCACCATCACCA CCACCATCATCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCATCATCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCA CCACCACCATCGCCGCCACCACCACCACCATCGCCGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	174	0.0057	1086	c.-25 others(1103): Show c.-25+2506_-25+2507insTCACCACCATCACCACCGCCACCACCAC CACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCATCA CCATCACCACCACCATCACCACCACCACCACCATCGCCGCCACCACCACC ACCATCGCCACCACCACCACCACCACCATCACCACCACCATCATCACCAC CACCACCATCGCCGCCACCACCACCACCATCGCCGCCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCACCAC CACCATCGCCGCCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCACCAC CACCATCGCCGCCACCACCACCACCATCGCCGCCACCACCACCACCACCA TCACCACCACCACCACCACCACCATCGCCACCACCACCACCACCATCACC ACCACCACCACCATCACCACCATCACCACCACCATCATCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCA CCACCACCACCATCATCACCACCATCACCACCACCACCACCACCATCACC ACCACCACCACCACCATCACCACCACCACCACCATCATCACCACCACCAC CACCACCACCACCATCACCACCACCATCACCACCACCATCATCACCGCCA CCACCACCACCACCATCACCACCACCACCACCATCATCACCACCACCACC ACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCATCATCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCATCATCACCACCACCACCATCGCCGCCACCACCACCACCAT CGCCGCCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1079): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATATAA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATATAATATATAATATATAATATAATATATAATAT ACAATACATAATATATAATGTATAATATAATATATAATATAATATAAAAT ATATAATATATAATATATAATATTATATATTTTATATATGCATTTCTTCT CTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTA GAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACT CAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACA TCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTT CTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTC AAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTT TCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAAT AAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCAT GACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGC CCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGG CTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGT TTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATATT ATTTTATATGTGATATATATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG03453.hp1 HG01891.hp2 HG02257.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0018 a0001c0003t0007g0018	3	251	0.0120	1086	c.-36 others(1097): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATGAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA ATATATAATATATAATATAATATATAATATATAATATAATATATAATATA TAATATAATATATAATGTAATATATAATATATAATATAATATATAATATA TAATATATAATATATAATATAATATATAATATATAATATATAATATATAA TATAATATATAATATACAATACATAATATATAATGTATAATATAATATAT AATATAATATAAAATATATAATATATAATATATAATATTATATATTTTAT ATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGG CCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCA TATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCT CAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGT CCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCT AGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACT AATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCT TTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTTCA CTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCAAC TTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCC AGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCCTC TGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGATA TATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTATAC AA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1079): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATGAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATATAA TATAATATATAATATATAATATAATATATAATATATAATATAATATATAA TGTAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATATAATATATAATATATAATATAATATATAATAT ACAATACATAATATATAATGTATAATATAATATATAATATAATATAAAAT ATATAATATATAATATATAATATTATATATTTTATATATGCATTTCTTCT CTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTA GAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACT CAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACA TCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTT CTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTC AAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTT TCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAAT AAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCAT GACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGC CCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGG CTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGT TTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATATT ATTTTATATGTGATATATATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG03453.hp1 HG01891.hp1 HG02257.hp2 HG03453.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0013 a0002c0005t0003g0013	3	237	0.0127	1086	c.87 others(1095): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATGAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATAAT ATATAATATATAATATAATATATAATATATAATATAATATATAATATATA ATATAATATATAATGTAATATATAATATATAATATAATATATAATATATA ATATATAATATATAATATAATATATAATATATAATATATAATATATAATA TAATATATAATATACAATACATAATATATAATGTATAATATAATATATAA TATAATATAAAATATATAATATATAATATATAATATTATATATTTTATAT ATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCC ACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATA TTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCA ACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCC ATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAG CTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAA TCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTT CCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTTCACT TAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTT ATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAG TGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTG CTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGATATA TATTTTATATATTATTTTATATGTGATATATATTTTATATATCTATACAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(1079): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGG AGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	13	0.0769	1086	c.978 others(1103): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCA GGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGA GAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGG CAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KDM2B_chr12_121424096_121586023	121514830	C C	CCCCACAC others(1079): Show CCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCGCC AATCACACTCTCCAATCCCCATCACACTCCCCACCCCCTCTAATCACATT CCCCATCCCTCTAATCACACACCCCATCCCCTCTAATCACACTCCCCACC CCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCACA CTCCCCACCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCACC CCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCACA CTCCCCACCCCCTCTAATCACACTCCCCACCCCCTAATCACACTCCCCAC CCCAGTCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCAC ACTCCCCACCCCCCAATCACACTCCTCACCCCCTCTAATCACACTCCCCA TCCCCTAATCACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATC ACACTCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCTCAC CCCCTCTAATCACACTCCCCACCCCCTAATCACACTCCCCACCCCAATCA CACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCA CCCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTAA TCACACTCCCCACCCCAATCACACTCTCCATCCCCTCTAATCACACTCCC CACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTA ATCACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCC CCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCTCACCCCCTCT AATCACACTCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCCC CATCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCTC TAATCACACTCCCCACCCCCCAATCACAGTCCCCATCCCCCAATCACACT CCCCATCCCCCCATCACTCCCCACCCCCAATCACATT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0149 a0001c0013t0001g0149	1	216	0.0046	1086	c.104 others(1105): Show c.1048-1429_1048-1428insAATGTGATTGGGGGTGGGGAGTGATG GGGGGATGGGGAGTGTGATTGGGGGATGGGGACTGTGATTGGGGGGTGGG GAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGAT TAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGG GGAGTGTGATTAGAGGGGGTGAGGAGTGTGATTGGGGGGTGGGGAGTGTG ATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTG GGGAGTGTGATTAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGT GATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGAGAGTGTGATTGGGGT GGGGAGTGTGATTAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTG TGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGG GATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTGT GATTAGAGGGGGTGAGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGG GTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTG TGATTAGGGGATGGGGAGTGTGATTAGAGGGGGTGAGGAGTGTGATTGGG GGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGA GTGTGACTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTGTGATTAGAG GGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGG AGTGTGATTGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAG GGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGA GTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGTGTGTGATTA GAGGGATGGGGAATGTGATTAGAGGGGGTGGGGAGTGTGATGGGGATTGG AGAGTGTGATTGGCGGGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATT GGCGTGTGGG	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
LORICRIN_chr1_153254687_153267124	153256767	A A	ATAGTCAC others(1079): Show ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTAT ATAAAACTATATATAGTCACATATGTATATAAAACTATAGTCACATATGT ATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAC ATACAGTCATATATGTATATAAAACTACATACAGTCATATATGTATATAA AACTACATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATATAGTCAT ATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTT ATATATGTATATAAAACTATAGTTATATATGTATATAAAACTAGTTATAT ATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATAT GTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGT AAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACT ATATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAA AACTATATACAGTTATGTATGTATGTAAAACTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18966.hp2 NA18990.hp1 others(2): Show NA18945.hp2 NA18966.hp2 NA18990.hp1 NA19080.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	5	341	0.0147	1086	c.-29 others(1097): Show c.-2990_-2989insTAGTCACATATGTATATAAAACTATATATAGTCA CATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATA TAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAAC TATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAAC TATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATA TGTATATAAAACTACATACAGTCATATATGTATATAAAACTACATACAGT CATATATGTATATAAAACTACATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATA TGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATATAGTCATATATGTATATAAAACTATATAGTTATATATGTATA TAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTATA TAAAACTAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAA ACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAAC TATAGTTATATATGTAAAACTATAGTTATATATGTAAAACTATAGTTATA TATGTATGTAAAACTATATAGTTATATATGTATGTAAAACTATATACAGT TATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATA TG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2919		chr1	TogoVar
MPPED1_chr22_43407014_43512848	43495789	A A	AGGTAGTG others(1079): Show AGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTG ATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGT GGAGATGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGTGG AGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAGTG GTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGT GGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGG TGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTG GTGGAGGTAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGT GGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGATGG TGGTGGTGGAGGTGGTGGTGGTGGAGGTGATGGTGGAGGTGGTGGTGGTG GAGGTGGTGATGGTGGAGGTAGTAGTGGTGGAGATGGTGGTGGTGGAGGT GATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGAGGAGGTAC TAGTAATGGAGGTGGTGGTGGAAGTGCTGGTGATGGTGGAGGTGGTGGTG GTGGAAGTGCTGGTTATGGTGGTGGTGGTGGTGATGGAGGTGGTGGTGAT GGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGG AGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGATGGTGGTG GTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGT GGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGG TAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTG GAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGT GGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGG TGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0208 a0001c0001t0015g0208	1	237	0.0042	1086	c.633 others(1103): Show c.633-2443_633-2442insAGTGGTGGTGGAGATGGTGGTGGTGGAG GTAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGT GGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGATGGTGGTGG TGGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAG GTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGT GGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGTGG AGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTG GTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTGATGGTGGA GGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGG TGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGATG GTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTAGTAGTGGTGGA GATGGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGG TGGTGGAGGAGGAGGTACTAGTAATGGAGGTGGTGGTGGAAGTGCTGGTG ATGGTGGAGGTGGTGGTGGTGGAAGTGCTGGTTATGGTGGTGGTGGTGGT GATGGAGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGG TGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTG GTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGT AGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGG AGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTG GTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGA GGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGG TGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTA GTGGTGGT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTERF3_chr8_96234402_96266610	96250651	A A	AAGAAGGA others(1079): Show AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	273	0.0037	1086	c.677 others(1101): Show c.677+254_677+255insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(1079): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTG GGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGAGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGA TCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGA TCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0008 a0009c0022t0008	a0009c0022t0008g0024 a0009c0022t0008g0025 a0009c0022t0008g0024 a0009c0022t0008g0025	2	268	0.0075	1086	c.140 others(1103): Show c.140+8559_140+8560insCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTG CACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGA CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTC CACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC CACCCACCCTGCACTCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC CCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC CCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC CCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGC TCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGC TCCCCCCCCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTG CTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAG TGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OLFM1_chr9_135082668_135126180	135096116	T T	TCCTCCTT others(1079): Show TCCTCCTTCTTCCCCTCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTTCCC CTCCCTCCTCTCCTCCTCTTCCTCCTCCTCCTTCCCCTCCTTCCTCTCCT CCTCCTCCTCTCCCTCTCCCCTCCCTCCCCTCCTCCTCTTCCCCTCCTCT TCCTCCTCTCCTTCCCCTCCTTCCCCTCCTTCCTCTCCTCCTCCTCCCCC TCTCCCCTCCCTCCTCTCCTTCTCCTTCCCCTCCCTCCTCTTCCCCTCCT CTTCCTCCTCCTCCTTCCCCTCCTTCTCCTCCTCCTCCTTCCCCCTCCCT TCCCTTCTTTCCTCCTTCTCCTTCTCCTTCCCTGCCCTCCTCTCCACCTC CCTCTCTTCTTCCTCCTTCTCCTCTCCCCCTCCATCTCCCTTCTCCCCCT CCTCCTCTCCCCCTCCCCCTCTCCTCCTCCTCTCCCCCTCCCCCTCTCCT CCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCC CCCTCTCCTCCTCCTCTCCCCCTCCCTCTCTCCTCCTTCTGCTCCTCCTT CTCCTCCTCCTTCCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCCCT ATTTTCTCCCTTTCTCCTCCCCCTTCCTTCCTTCTCCGGCTCCTCCTCCT GTTCTTCCCCTTCCTCCTCCTCCCCCTCCCTCTCCTCCCCTCTCCTCTTC CCCCTTGCCCCTTTGCCTCCCCTTTCCTCTCTCTCCTCTTCCTCCCTTTT CTCTTCCTCATCCCCCTCCCCCTCCTCCTTTCTCTTCCTCCCCCTTACCT TCCTCCTCCTCTCCCTTCTCTTCCTTGTCCTCCCCCCTCCTCTTCCCCCT CTCCCCTCCTCCTCATTCCTCCCCCACCTTGTCTTCTTCCCCTTTCTCCT CCTCATCGCCCCTCCTTCCTCCTCCCCCTTCCTCTTCCTCCTTCCTTCCC CCTCTCCTCTTCCTCCCCCCTCCTCCTCCCCTCTTCATCCTCCTCTTCCT CCTCCCTCTCCTCCTTCTCCTCCTCTTCCTCCTCCCCCTCTTCATCCTCC TCTTCCTCCCCCTCTTCATCCTCCTCTTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	357	0.0028	1086	c.456 others(1101): Show c.456+101_456+102insCTTCTTCCCCTCCCTCCTCTCCTCCTCCTC TTCCTCCTCCTTCCCCTCCCTCCTCTCCTCCTCTTCCTCCTCCTCCTTCC CCTCCTTCCTCTCCTCCTCCTCCTCTCCCTCTCCCCTCCCTCCCCTCCTC CTCTTCCCCTCCTCTTCCTCCTCTCCTTCCCCTCCTTCCCCTCCTTCCTC TCCTCCTCCTCCCCCTCTCCCCTCCCTCCTCTCCTTCTCCTTCCCCTCCC TCCTCTTCCCCTCCTCTTCCTCCTCCTCCTTCCCCTCCTTCTCCTCCTCC TCCTTCCCCCTCCCTTCCCTTCTTTCCTCCTTCTCCTTCTCCTTCCCTGC CCTCCTCTCCACCTCCCTCTCTTCTTCCTCCTTCTCCTCTCCCCCTCCAT CTCCCTTCTCCCCCTCCTCCTCTCCCCCTCCCCCTCTCCTCCTCCTCTCC CCCTCCCCCTCTCCTCCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCCCC CTCCTCTCCCCCTCCCCCTCTCCTCCTCCTCTCCCCCTCCCTCTCTCCTC CTTCTGCTCCTCCTTCTCCTCCTCCTTCCCTCCCCCCTCCTCCTCCTCCT CCTCCCCCCTCCCCTATTTTCTCCCTTTCTCCTCCCCCTTCCTTCCTTCT CCGGCTCCTCCTCCTGTTCTTCCCCTTCCTCCTCCTCCCCCTCCCTCTCC TCCCCTCTCCTCTTCCCCCTTGCCCCTTTGCCTCCCCTTTCCTCTCTCTC CTCTTCCTCCCTTTTCTCTTCCTCATCCCCCTCCCCCTCCTCCTTTCTCT TCCTCCCCCTTACCTTCCTCCTCCTCTCCCTTCTCTTCCTTGTCCTCCCC CCTCCTCTTCCCCCTCTCCCCTCCTCCTCATTCCTCCCCCACCTTGTCTT CTTCCCCTTTCTCCTCCTCATCGCCCCTCCTTCCTCCTCCCCCTTCCTCT TCCTCCTTCCTTCCCCCTCTCCTCTTCCTCCCCCCTCCTCCTCCCCTCTT CATCCTCCTCTTCCTCCTCCCTCTCCTCCTTCTCCTCCTCTTCCTCCTCC CCCTCTTCATCCTCCTCTTCCTCCCCCTCTTCATCCTCCTCTTCCTCCTC CCCCTC	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OPRPN_chr4_70392940_70415195	70413203	G G	GTGTGTAT others(1079): Show GTGTGTATATATACATATATGTATATGTATATGTGTATATATGCATATAT GTATATGTATATGTGTATATATGCATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGTGT ATATACACATATATATGTATATGCATATGTGTGTATATACACATATATAT GTATATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACATATAT ATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGT GTGTATATATACATATATGTATATGCATATGTGTGTATATATACATATAT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT AAATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACACATAT ACATATATATGCATATGTGTGTATATATACACATATACATATATATGCAT ATGTGTGTATATATACATATACATATATATGCATATATATGTATATATAC ATATACATATATATGCATATATGTGTATACATATACATATATATGTGTGT GTATATATATGTGTGTGTATATATACACATATATATGTGTGTGTATATAT ACACATATATATGTGTGTGTATATATACACATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA18955.hp1 NA18993.hp2 others(1): Show HG00544.hp1 NA18955.hp1 NA18993.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	4	396	0.0101	1086	c.31 others(1097): Show c.3128_*3129insTGTGTATATATACATATATGTATATGTATATGTG TATATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATACACATATATATGTA TATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGTGTA TATACACATATATATGTATATGCATATGTGTGTATATACACATATATATG TATATGCATATGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACATATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTG TATATATACATATATATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTAAATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACACATATACATATATATGCATATGTGTGTATATATACACATA TACATATATATGCATATGTGTGTATATATACATATACATATATATGCATA TATATGTATATATACATATACATATATATGCATATATGTGTATACATATA CATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATA TGTGTGTGTATATATACACATATATATGTGTGTGTATATATACACATATA TA	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		3009		chr4	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(1079): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCACACACGTACACACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACAT GAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCAC ACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACACACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGC ACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACAC ATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACACACATGCATACATGA GCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACAT GAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACAC ATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACAC GTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATAC CGGCACACGTACACACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	203	0.0049	1086	c.-25 others(1097): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACATGCACACATGAGCACA TGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCACA CATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACACA CATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACACACATGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACATG AGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCACA CATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACACA TGCACACATGAACACATGTGCACACGTACACACACATGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACACACGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACA CACATGCATACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCCCATACACACTGGCA CACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATA CACACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCACA CATGCACATACATACCGGCACACGTACACACATGCACACATGAACACATG TG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
POLG_chr15_89311320_89339824	89325239	T T	TGAGTGAG others(1079): Show TGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGTGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGTG AGTGAGTGAGTGAGTGAAAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	389	0.0026	1086	c.194 others(1103): Show c.1949+210_1949+211insTCTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTC ACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCAC TCACTCTCTCACTCACTCTCACTCACTCTCTCACTCACTCTTTCACTCAC TCACTCACTCACACTCACTCACTCACTCACTCTCTCACTCACTCTCTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCTCTCACTCTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACACTCACTC ACTCACTCACTCTCTCACTCACTCTCACTCACTCTCTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCTCACTCACTCACTCACTCACTCACTCTCTCAC TCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCAC TCACTCACTCACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC ACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(1079): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	187	0.0053	1086	c.-50 others(1097): Show c.-5052_-5051insCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
SLC44A5_chr1_75197129_75616114	75280140	A A	ATATATAG others(1079): Show ATATATAGTATATCTAATATATATTATATATATTTTATATTGTATATATA ATATATAGTATATATTTTATGTTGTATATATAATATACATAGTATATATT ATATATTGTATATAATATATATAGTATATATTATATATTGTATATAATAT ATATAGTATATATTATATATTGTATATAATATATATAGTATATATTATAT ATTGTATATAATATATATAGTATATATTATATATTGTATATAATATATAT AGTATATATTATATATTGTATATAATATATATAGTATATATTATATATAT ATTGTATATGTTATATATTGTATATATAATATATATATTGTATATGTTAT ATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAAT ATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATGTT ATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATA ATATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATG TTATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATA TAATATATATTGTATATGTTATATATTGTATATATAATATATATTGTATA TGTTATATATTGTATATATAATATATATTGTATATGTTATATATTGTATA TATAATATATATTGTATATGTTATATATTGTATATATAATATATATTGTA TATGTTATATATTGTATATATAATATATATTGTATATGTTATATATTGTA TATATAATATATATTGTATATGTTATATATTGTATATATAATATATATTG TATATGTTATATATTGTATATATAATATATATTGTATATGTTATATATTG TATATATAATATATATTGTATATGTTATATATTGTATATATAATATATAT TGTATATGTTATATATTGTATATATAATATATAGTATATGTTATATATTG TATATATAATATATAGTATATGTTATATATTGTATATATTATATATAGTA TATGTTATATATTGTATATATTATATATAGTATATGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0153 a0001c0005t0005g0153	1	143	0.0070	1086	c.176 others(1103): Show c.176-5099_176-5098insACATATACTATATATAATATATACAATA TATAACATATACTATATATAATATATACAATATATAACATATACTATATA TTATATATACAATATATAACATATACTATATATTATATATACAATATATA ACATATACAATATATATTATATATACAATATATAACATATACAATATATA TTATATATACAATATATAACATATACAATATATATTATATATACAATATA TAACATATACAATATATATTATATATACAATATATAACATATACAATATA TATTATATATACAATATATAACATATACAATATATATTATATATACAATA TATAACATATACAATATATATTATATATACAATATATAACATATACAATA TATATTATATATACAATATATAACATATACAATATATATTATATATACAA TATATAACATATACAATATATATTATATATACAATATATAACATATACAA TATATATTATATATACAATATATAACATATACAATATATATTATATATAC AATATATAACATATACAATATATATTATATATACAATATATAACATATAC AATATATATTATATATACAATATATAACATATACAATATATATTATATAT ACAATATATAACATATACAATATATATTATATATACAATATATAACATAT ACAATATATATTATATATACAATATATAACATATACAATATATATTATAT ATACAATATATAACATATACAATATATATATTATATATACAATATATAAC ATATACAATATATATATAATATATACTATATATATTATATACAATATATA ATATATACTATATATATTATATACAATATATAATATATACTATATATATT ATATACAATATATAATATATACTATATATATTATATACAATATATAATAT ATACTATATATATTATATACAATATATAATATATACTATATATATTATAT ACAATATATAATATATACTATGTATATTATATATACAACATAAAATATAT ACTATATATTATATATACAATATAAAATATATATAATATATATTAGATAT ACTATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280140	A A	ATATATAG others(1079): Show ATATATAGTATATCTAATATATATTATATATATTTTATATTGTATATATA ATATATAGTATATATTTTATGTTGTATATATAATATACATAGTATATATT ATATATTGTATATAATATATATAGTATATATTATATATTGTATATAATAT ATATAGTATATATTATATATTGTATATAATATATATAGTATATATTATAT ATTGTATATAATATATATAGTATATATTATATATTGTATATAATATATAT AGTATATATTATATATTGTATATAATATATATAGTATATATTATATATAT ATTGTATATGTTATATATTGTATATATAATATATATATTGTATATGTTAT ATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAAT ATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATGTT ATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATA ATATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATG TTATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATA TAATATATATTGTATATGTTATATATTGTATATATAATATATATTGTATA TGTTATATATTGTATATATAATATATATTGTATATGTTATATATTGTATA TATAATATATATTGTATATGTTATATATTGTATATATAATATATATTGTA TATGTTATATATTGTATATATAATATATATTGTATATGTTATATATTGTA TATATAATATATATTGTATATGTTATATATTGTATATATAATATATATTG TATATGTTATATATTGTATATATAATATATATTGTATATGTTATATATTG TATATATAATATATATTGTATATGTTATATATTGTATATATAATATATAT TGTATATGTTATATATTGTATATATAATATATAGTATATGTTATATATTG TATATATTATATATAGTATATGTTATATATTGTATATATTATATATAGTA TATGTTATATATTGTATATATTATATATAGTATATGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0130 a0001c0005t0007g0130	1	143	0.0070	1086	c.176 others(1103): Show c.176-5099_176-5098insACATATACTATATATAATATATACAATA TATAACATATACTATATATAATATATACAATATATAACATATACTATATA TAATATATACAATATATAACATATACTATATATTATATATACAATATATA ACATATACAATATATATTATATATACAATATATAACATATACAATATATA TTATATATACAATATATAACATATACAATATATATTATATATACAATATA TAACATATACAATATATATTATATATACAATATATAACATATACAATATA TATTATATATACAATATATAACATATACAATATATATTATATATACAATA TATAACATATACAATATATATTATATATACAATATATAACATATACAATA TATATTATATATACAATATATAACATATACAATATATATTATATATACAA TATATAACATATACAATATATATTATATATACAATATATAACATATACAA TATATATTATATATACAATATATAACATATACAATATATATTATATATAC AATATATAACATATACAATATATATTATATATACAATATATAACATATAC AATATATATTATATATACAATATATAACATATACAATATATATTATATAT ACAATATATAACATATACAATATATATTATATATACAATATATAACATAT ACAATATATATTATATATACAATATATAACATATACAATATATATTATAT ATACAATATATAACATATACAATATATATATTATATATACAATATATAAC ATATACAATATATATATAATATATACTATATATATTATATACAATATATA ATATATACTATATATATTATATACAATATATAATATATACTATATATATT ATATACAATATATAATATATACTATATATATTATATACAATATATAATAT ATACTATATATATTATATACAATATATAATATATACTATATATATTATAT ACAATATATAATATATACTATGTATATTATATATACAACATAAAATATAT ACTATATATTATATATACAATATAAAATATATATAATATATATTAGATAT ACTATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACACAT others(1079): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGAC CCTACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCC ACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACC CCACAACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATC CACAGTCACCACATCAGGCCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	208	0.0048	1086	c.228 others(1105): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGCCTGATG TGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGT GTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACCG others(1079): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCC CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACCG CCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCC CTGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCACGACTGC CATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCTGTGACCGATCACCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	244	0.0041	1086	c.228 others(1105): Show c.2287-1503_2287-1502insTGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTG ATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(1079): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0167 a0001c0001t0058g0167	1	264	0.0038	1086	c.189 others(1103): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157312448	C C	CTCATCAT others(1079): Show CTCATCATAGTGTCCCAAGGTGCGCTCATCCGGCCTCATCATAGTGTCGC AGTGTGCACTCACCTAGCCTCATCATAGTGTCCCTGTGTGCAATCACCTA GCCTCATCATAGTTTCCCACTGTGTGCTCACCTGGCCTCATCATAGTGCC CCAGTTTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTGAACTCACC TGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCTTGATCATAGTG TCCCAGTATCCGCTCATTTAGCGTCATCATAGTGCCCCAGAATCCGCTCA CCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATAG TGCCCCAGTGTGTGCTCAGCTAGCCTCATCATAGTGCCCTAGTGTGCGTT CACATAGCCTCATCATAGTACCCCAGTTTCAGCTCACCGAGCCTCATCAT AGTGCCCCAGTGTGCACTCACCTAGCCTCATCATAGTACCCCAGTGGCCG CTCACCAATCCTCATCATAGTGCGCCAGTGTGCACTCAACTAGCCTCATC ATAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATACTGTCCCAGTTTG CGCTCACCTAGCCTCATCATAGTGCCGCAGTGTGAACTCAACTAGCATCA CAGTGCCCCAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTGA GCTCACCTGGCCTCATCATAGTGCCCCAGTGTGCACTCACCGAGCCTCAT CATAGTGCCCCAGTGACCGCTCACGTAGCCTCGTCATAGTACCCCAGTGT GCACTCACTTAGCCTCGTCATAGTGCGCCACTGTGCGTTCACCTGGCCTC ACAATAGTGCCCCAGTGGGCGCTCACCTGGTCTCATCATAGTGCCCCAGT GTGCGCTGACTTAGCCTCTTCATAGTGTCCCAGTGTGCACTCACCTAGCC TCATCATAGTGTCCATGTGTGCGCTCAGCCAGGCTCATCATAGTGTCCCA GTGTGCACTCACCTAGCCTCATCAGAGTCCCAGGGTGCGCTCACCTAGCC TCATCATAGTATCCCAGTGTGCGCTCACACGGCCTCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG03098.hp2 others(1): Show HG02145.hp1 HG02895.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	4	218	0.0183	1086	c.327 others(1103): Show c.327+6333_327+6334insTGAGGCCGTGTGAGCGCACACTGGGATA CTATGATGAGGCTAGGTGAGCGCACCCTGGGACTCTGATGAGGCTAGGTG AGTGCACACTGGGACACTATGATGAGCCTGGCTGAGCGCACACATGGACA CTATGATGAGGCTAGGTGAGTGCACACTGGGACACTATGAAGAGGCTAAG TCAGCGCACACTGGGGCACTATGATGAGACCAGGTGAGCGCCCACTGGGG CACTATTGTGAGGCCAGGTGAACGCACAGTGGCGCACTATGACGAGGCTA AGTGAGTGCACACTGGGGTACTATGACGAGGCTACGTGAGCGGTCACTGG GGCACTATGATGAGGCTCGGTGAGTGCACACTGGGGCACTATGATGAGGC CAGGTGAGCTCACACTGGGACACTATGATGAGGCCAGGTGAGTGCACACT GGGGCACTGTGATGCTAGTTGAGTTCACACTGCGGCACTATGATGAGGCT AGGTGAGCGCAAACTGGGACAGTATGATGAGGCTAGGTGAGCGCACACTG GGGCACTATGATGAGGCTAGTTGAGTGCACACTGGCGCACTATGATGAGG ATTGGTGAGCGGCCACTGGGGTACTATGATGAGGCTAGGTGAGTGCACAC TGGGGCACTATGATGAGGCTCGGTGAGCTGAAACTGGGGTACTATGATGA GGCTATGTGAACGCACACTAGGGCACTATGATGAGGCTAGCTGAGCACAC ACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGAT GAGGCTAGGTGAGCGGATTCTGGGGCACTATGATGACGCTAAATGAGCGG ATACTGGGACACTATGATCAAGCTAGGTGAGTGCACACTGGGACACTATG ATGAGGCCAGGTGAGTTCACACTGGGACACTATGATGAGGCCAGGTGAGT GCAAACTGGGGCACTATGATGAGGCCAGGTGAGCACACAGTGGGAAACTA TGATGAGGCTAGGTGATTGCACACAGGGACACTATGATGAGGCTAGGTGA GTGCACACTGCGACACTATGATGAGGCCGGATGAGCGCACCTTGGGACAC TATGATGA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM68_chr8_55733758_55778378	55744303	T T	TAAAAAAC others(1079): Show TAAAAAACTTCTAAAATATCATCAAAGGAATCCAAAACAGGCAGGCCATA TGGAACACACAGTCATGGATTGTACCAAAAGTTGAAAGTATTGCTTACAC ATCAAAACACAGAAATACACCCTATCCTACAGGTCACACACACACACACA CACACACACACACACACACACACAAAATCACTAGATACTAATTTTTGGAA TATTCAACTTTAAAGTAAAAAAAGTAAAAAAAAAAAAATCACAGGTAAAA TGAATAAACAAAACTTCTGGAATAATTTCTGATTTGCCATTAAATTCTAA ATAAATGAGCCAAGAAAAAATTAGAAGAAATAGGCTGGGCACAGTGGCTC ACGCCTGTAATCCCAATACTCTGGAAGACCAAGGCGGGGGGCGGGGGGGG CGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCA AAACCTTGTCTCTGCTAAAAATACAAAAATTAGCTAGGCATGCTGGCACA TGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAATCACTTGAA GCTGAGAGGTGGAGGTTGCAGTGAGCCGAAATCATGCCAGCATACTCCAG CCTGGGCAATAGAGAGAGACTCTGTCTCAAAAAAAAAAAAGTAAATAAAT AAATAAATAAATAAATCCACACAAAAGTTAAAGATCTCATCAATCTTCCT TTCCACTTTAAATCTGATAAAAAGGGAAAAAAATAAGACTTAAAAAACAA TGCAGTACCAACAAAATAGCAATGTTATACATAAAAGAAACAAGGACAGT TTAAAGCTCTTCAGAAGGGGACTTGTAAGTAGATAGGAACATTAACAATA ATAGCGCTAGGATAAAAAACAAAACAAAACAAATAATGCCAGGAATATGT AATATAATCAATTAAATATAATACACAAACCATAGGATACAATAACAAGC TGAATACTTCAAAATAAGAAACAGGTATTGCAAAGAAAAAGCACACCTAA TCATTAACATTGCTATAATTACATTAAAATCTGATTTTTTAAATCTATAA ATAAAGGATAGGTAAAAAGAACTTTCCAGTGTAAATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	101	0.0099	1086	c.749 others(1101): Show c.749-684_749-683insCATTTACACTGGAAAGTTCTTTTTACCTAT CCTTTATTTATAGATTTAAAAAATCAGATTTTAATGTAATTATAGCAATG TTAATGATTAGGTGTGCTTTTTCTTTGCAATACCTGTTTCTTATTTTGAA GTATTCAGCTTGTTATTGTATCCTATGGTTTGTGTATTATATTTAATTGA TTATATTACATATTCCTGGCATTATTTGTTTTGTTTTGTTTTTTATCCTA GCGCTATTATTGTTAATGTTCCTATCTACTTACAAGTCCCCTTCTGAAGA GCTTTAAACTGTCCTTGTTTCTTTTATGTATAACATTGCTATTTTGTTGG TACTGCATTGTTTTTTAAGTCTTATTTTTTTCCCTTTTTATCAGATTTAA AGTGGAAAGGAAGATTGATGAGATCTTTAACTTTTGTGTGGATTTATTTA TTTATTTATTTATTTACTTTTTTTTTTTTGAGACAGAGTCTCTCTCTATT GCCCAGGCTGGAGTATGCTGGCATGATTTCGGCTCACTGCAACCTCCACC TCTCAGCTTCAAGTGATTCTCCCACCTCAGCCTCCAGAGTAGCTGGGACT ACAGGCATGTGCCAGCATGCCTAGCTAATTTTTGTATTTTTAGCAGAGAC AAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTG ATCCACGCCCCCCCCGCCCCCCGCCTTGGTCTTCCAGAGTATTGGGATTA CAGGCGTGAGCCACTGTGCCCAGCCTATTTCTTCTAATTTTTTCTTGGCT CATTTATTTAGAATTTAATGGCAAATCAGAAATTATTCCAGAAGTTTTGT TTATTCATTTTACCTGTGATTTTTTTTTTTTTACTTTTTTTACTTTAAAG TTGAATATTCCAAAAATTAGTATCTAGTGATTTTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGACCTGTAGGATAGGGTGTATTTCTGTG TTTTGATGTGTAAGCAATACTTTCAACTTTTGGTACAATCCATGACTGTG TGTTCCATATGGCCTGCCTGTTTTGGATTCCTTTGATGATATTTTAGAAG TTTTTT	TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	6/7			chr8	TogoVar
TMEM68_chr8_55733758_55778378	55744303	T T	TAAAAACT others(1079): Show TAAAAACTTCTAAAATATCATCAAAGGAATCCAAAACAGGCAGGCCATAT GGAACACACAGTCATGGATTGTACCAAAAGTTGAAAGTATTGCTTACACA TCAAAACACAGAAATACACCCTATCCTACAGGTCACACACACACACACAC ACACACACACACACACACACACAAAATCACTAGATACTAATTTTTGGAAT ATTCAACTTTAAAGTAAAAAAAGTAAAAAAAAAAAAAATCACAGGTAAAA TGAATAAACAAAACTTCTGGAATAATTTCTGATTTGCCATTAAATTCTAA ATAAATGAGCCAAGAAAAAATTAGAAGAAATAGGCTGGGCACAGTGGCTC ACGCCTGTAATCCCAATACTCTGGAAGACCAAGGCGGGGGGCGGGGGGGG CGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCA AAACCTTGTCTCTGCTAAAAATACAAAAATTAGCTAGGCATGCTGGCACA TGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAATCACTTGAA GCTGAGAGGTGGAGGTTGCAGTAAGCCGAAATCATGCCAGCATACTCCAG CCTGGGCAATAGAGAGAGACTCTGTCTCAAAAAAAAAAAAGTAAATAAAT AAATAAATAAATAAATCCACACAAAAGTTAAAGATCTCATCAATCTTCCT TTCCACTTTAAATCTGATAAAAAGGGAAAAAAATAAGACTTAAAAAACAA TGCAGTACCAACAAAATAGCAATGTTATACATAAAAGAAACAAGGACAGT TTAAAGCTCTTCAGAAGGGGACTTGTAAGTAGATAGGAACATTAACAATA ATAGCGCTAGGATAAAAAACAAAACAAAACAAATAATGCCAGGAATATGT AATATAATCAATTAAATATAATACACAAACCATAGGATACAATAACAAGC TGAATACTTCAAAATAAGAAACAGGTATTGCAAAGAAAAAGCACACCTAA TCATTAACATTGCTATAATTACATTAAAATCTGATTTTTTAAATCTATAA ATAAAGGATAGGTAAAAAGAACTTTCCAGTGTAAATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	101	0.0099	1086	c.749 others(1101): Show c.749-684_749-683insCATTTACACTGGAAAGTTCTTTTTACCTAT CCTTTATTTATAGATTTAAAAAATCAGATTTTAATGTAATTATAGCAATG TTAATGATTAGGTGTGCTTTTTCTTTGCAATACCTGTTTCTTATTTTGAA GTATTCAGCTTGTTATTGTATCCTATGGTTTGTGTATTATATTTAATTGA TTATATTACATATTCCTGGCATTATTTGTTTTGTTTTGTTTTTTATCCTA GCGCTATTATTGTTAATGTTCCTATCTACTTACAAGTCCCCTTCTGAAGA GCTTTAAACTGTCCTTGTTTCTTTTATGTATAACATTGCTATTTTGTTGG TACTGCATTGTTTTTTAAGTCTTATTTTTTTCCCTTTTTATCAGATTTAA AGTGGAAAGGAAGATTGATGAGATCTTTAACTTTTGTGTGGATTTATTTA TTTATTTATTTATTTACTTTTTTTTTTTTGAGACAGAGTCTCTCTCTATT GCCCAGGCTGGAGTATGCTGGCATGATTTCGGCTTACTGCAACCTCCACC TCTCAGCTTCAAGTGATTCTCCCACCTCAGCCTCCAGAGTAGCTGGGACT ACAGGCATGTGCCAGCATGCCTAGCTAATTTTTGTATTTTTAGCAGAGAC AAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTG ATCCACGCCCCCCCCGCCCCCCGCCTTGGTCTTCCAGAGTATTGGGATTA CAGGCGTGAGCCACTGTGCCCAGCCTATTTCTTCTAATTTTTTCTTGGCT CATTTATTTAGAATTTAATGGCAAATCAGAAATTATTCCAGAAGTTTTGT TTATTCATTTTACCTGTGATTTTTTTTTTTTTTACTTTTTTTACTTTAAA GTTGAATATTCCAAAAATTAGTATCTAGTGATTTTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGACCTGTAGGATAGGGTGTATTTCTGT GTTTTGATGTGTAAGCAATACTTTCAACTTTTGGTACAATCCATGACTGT GTGTTCCATATGGCCTGCCTGTTTTGGATTCCTTTGATGATATTTTAGAA GTTTTT	TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	6/7			chr8	TogoVar
TMEM68_chr8_55733758_55778378	55744308	T T	TAAAATAT others(1079): Show TAAAATATCATCAAAGGAATCCAAAACAGGCAGGCCATATGGAACACGCA GTCATGGATTGTACCAAAAGTTGAAAGTATTGCTTACACATCAAAACACA GAAATACACCCTATCCTACAGGTCACACACACACACACACACACACACAC ACACACACAAAATCACTAGATACTAATTTTTGGAATATTCAACTTTAAAG TAAAAAAAGTAAAAAAAAAAAAATCACAGGTAAAATGAATAAACAAAACT TCTGGAATAATTTCTGATTTGCCATTAAATTCTAAATAAATGAGCCAAGA AAAAATTAGAAGAAATAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCA ATACTCTGGAAGACCAAGGCGGGGGGCGGGGGGGGCGTGGATCACCTGAG GTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCTTGTCTCTGC TAAAAATACAAAAATTAGCTAGGCATGCTGGCACATGCCTGTAGTCCCAG CTACTCTGGAGGCTGAGGTGGGAGAATCACTTGAAGCTGAGAGGTGGAGG TTGCAGTGAGCCGAAATCATGCCAGCATACTCCAGCCTGGGCAATAGAGA GAGACTCTGTCTCAAAAAAAAAAAAGTAAATAAATAAATAAATAAATAAA TCCACACAAAAGTTAAAGATCTCATCAATCTTCCTTTCCACTTTAAATCT GATAAAAAGGGAAAAAAATAAGACTTAAAAAACAATGCAGTACCAACAAA ATAGCAATGTTATACATAAAAGAAACAAGGACAGTTTAAAGCTCTTCAGA AGGGGACTTGTAAGTAGATAGGAACATTAACAATAATAGCGCTAGGATAA AAAACAAAACAAAACAAATAATGCCAGGAATATGTAATATAATCAATTAA ATATAATACACAAACCATAGGATACAATAACAAGCTGAATACTTCAAAAT AAGAAACAGGTATTGCAAAGAAAAAGCACACCTAATCATTAACATTGCTA TAATTACATTAAAATCTGATTTTTTAAATCTATAAATAAAGGATAGGTAA AAAGAACTTTCCAGTGTAAATGTATTATGGTACAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00741.hp2 others(16): Show HG00408.hp1 HG00408.hp2 HG00741.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG02486.hp1 HG02559.hp1 HG03195.hp1 HG03453.hp2 HG03516.hp2 HG03834.hp2 HG04204.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0252 a0001c0001t0003g0124 a0001c0001t0006g0008 others(13): Show a0001c0001t0001g0252 a0001c0001t0003g0124 a0001c0001t0006g0008 a0001c0001t0006g0022 a0001c0001t0006g0148 a0001c0001t0006g0185 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0197	19	121	0.1570	1086	c.749 others(1101): Show c.749-689_749-688insTTTTGTACCATAATACATTTACACTGGAAA GTTCTTTTTACCTATCCTTTATTTATAGATTTAAAAAATCAGATTTTAAT GTAATTATAGCAATGTTAATGATTAGGTGTGCTTTTTCTTTGCAATACCT GTTTCTTATTTTGAAGTATTCAGCTTGTTATTGTATCCTATGGTTTGTGT ATTATATTTAATTGATTATATTACATATTCCTGGCATTATTTGTTTTGTT TTGTTTTTTATCCTAGCGCTATTATTGTTAATGTTCCTATCTACTTACAA GTCCCCTTCTGAAGAGCTTTAAACTGTCCTTGTTTCTTTTATGTATAACA TTGCTATTTTGTTGGTACTGCATTGTTTTTTAAGTCTTATTTTTTTCCCT TTTTATCAGATTTAAAGTGGAAAGGAAGATTGATGAGATCTTTAACTTTT GTGTGGATTTATTTATTTATTTATTTATTTACTTTTTTTTTTTTGAGACA GAGTCTCTCTCTATTGCCCAGGCTGGAGTATGCTGGCATGATTTCGGCTC ACTGCAACCTCCACCTCTCAGCTTCAAGTGATTCTCCCACCTCAGCCTCC AGAGTAGCTGGGACTACAGGCATGTGCCAGCATGCCTAGCTAATTTTTGT ATTTTTAGCAGAGACAAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAAC TTCTGACCTCAGGTGATCCACGCCCCCCCCGCCCCCCGCCTTGGTCTTCC AGAGTATTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTATTTCTTCT AATTTTTTCTTGGCTCATTTATTTAGAATTTAATGGCAAATCAGAAATTA TTCCAGAAGTTTTGTTTATTCATTTTACCTGTGATTTTTTTTTTTTTACT TTTTTTACTTTAAAGTTGAATATTCCAAAAATTAGTATCTAGTGATTTTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACCTGTAGGATAGGGT GTATTTCTGTGTTTTGATGTGTAAGCAATACTTTCAACTTTTGGTACAAT CCATGACTGCGTGTTCCATATGGCCTGCCTGTTTTGGATTCCTTTGATGA TATTTT	TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	6/7			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507379	T T	TACGTATA others(1079): Show TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTAT ACATACATAAATGTATATACGTATATATACATGTATTATACATACATAAA TGTATATACGTATATATACATGTATTATACATACATAAATGTATATACGT ATATATACATGTATTATACATACATAAATGTATATACGTATATATACATG TATTATACATACATAAATGTATATACGTATATATACATGTATTATACATA CATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTAT ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTA TACATACATAAATGTATATACGTATATATACATGTATTATACATACATAA ATGTATATACGTATATATACATGTATTCTACATACATAAATGTATATACG TATATATACATGTATTATACATACATAAATGTATATACGTATATATACAT GTATTATACATACATAAATGTATATACGTATATATACATGTATTATACAT ACGTAAATGTATATATACATTATACATACGTAAATGTATATATGTATATA TACATTATACATACGTAAATGTATATATGTATATATACATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATATATACATTATACATA CGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATATATG TATATATACATTATACATACGTAAATGTATATATGTATATATACATTATA CATACGTAAATGTATATATGTATATATACATTATACATACGTAAATGTAT TATACATAAATGTATATATGTATATATACATGTATTATACATACATAAAT GTATATATGTATATATACATGTATTATACATACATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	361	0.0028	1086	c.-23 others(1103): Show c.-23+2668_-23+2669insTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATAATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATGTATATATACATTAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATT ATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTATG TATAATGTATATATACATATATACATTTACGTATGTATAATGTATATATA CATTTACGTATGTATAATACATGTATATATACGTATATACATTTATGTAT GTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACAT GTATATATACGTATATACATTTATGTATGTAGAATACATGTATATATACG TATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTT ATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATA ATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATA TATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATAT ACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTA TGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACA TGTATATATACGTATATACATTTATGTATGTATAATACATGTATATATAC GTATATACATTTATGTATGTATAATACATGTATATATACGTATATACATT TATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTAT AATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTAT ATATACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3437337	C C	CCACCCCT others(1079): Show CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCAT CACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACC CCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGG ATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTA ATACCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCC TGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGAT TAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCC CCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACC CCTGGATTAATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0067 a0002c0013t0002g0067	1	213	0.0047	1086	c.141 others(1105): Show c.1418-6366_1418-6365insGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATC CCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATA CCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCACCCCTGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACC CCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGA ATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAA TACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCC CACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATC ACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCT GGATTAATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATC CCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCT GAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCC ATCACCCCTG	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(1079): Show TCACCATCATCACCACCACCACCACCACCACTAGCACAACCACCATCATA ATTACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCAT CACCACCATCACCACCACCACTACCACTACCACCAACACAATCACCACCA CTATCACCATCATCACCACCACCACCACCACCACTAGCACAACCACAACA CTACCACATCACCACCACCACTACCACTACCACCATCATAATTACCACCA CCATCACCACCACCACCACCACTATCACCATCATCACCATCACCACCATC ACCACCACCACTACCACTACCACCAACACAATCACCACCACTATCACCAT CATCACCACCACCACCACCACCACTAGCACAACCACAACACTACCACATC ACCACCACCACTACCACTACTACCATCACCATCACCACCACCATCACCAC CACCACCACAATACTACCACATCACCACCACCACCATCATCATCACCACC ACTACCACCACCACTACCACCACCACCACCATCACTACTACCATCACCAC CACCACCACCACCACCACCACCACGACCACCACAACACTACCACATCACC ACCACCACGACCACCACTGCCACCACCACTACCACCACCACCACTACCAC CATCGCCACCATCACCACCACATCACCACCACCACCACCACTACTACCAC CACCACCATCACCACTACTACCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCATCACAATCACCACCACCATCACCACCACCACTACC ACCACCACCATCACCATCATCACCACCACCACCAACACTACTGCCACCAC CACTATTACCATCACCACCACTACTACCACCACCACTACCATAACCACCA TCATCACCATCACCATCATTACTGCTATTATGACCACCATCACTACCACC ATTATCACCACCACCACTAAACTACCACCACTACCTCACTGCCATCATCA CCATCACCATTACTAACATCACCATTACTAACATCACCATTATAATACTA CCACCATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	50	0.0200	1086	c.24 others(1097): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTG GTGGTGGTAGTAGTGGTGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCG ATGGTGGTAGTGGTGGTGGTGGTAGTGGTGGTGGCAGTGGTGGTCGTGGT GGTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTAGTAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGT AGTGGTGGTGATGATGATGGTGGTGGTGGTGATGTGGTAGTATTGTGGTG GTGGTGGTGATGGTGGTGGTGATGGTGATGGTAGTAGTGGTAGTGGTGGT GGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTG ATGATGGTGATAGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGT GGTGATGGTGGTGATGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGA TGGTGGTGGTAATTATGATGGTGGTAGTGGTAGTGGTGGTGGTGATGTGG TAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGTGA TAGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGTGGTGATGGTG GTGATGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGGT AATTATGATGGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGG TG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
U2AF2_chr19_55650035_55679716	55670449	C C	CCCGTGCA others(1079): Show CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC GTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCC TGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCT GCTGCCCGTGCACCCTGCTGCCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG01243.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0308 a0001c0002t0002g0309	2	150	0.0133	1086	c.129 others(1103): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTG TCCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGCCCGTGCACCCTGCTGCCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1079): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGGAGGGGGGAGG AGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGA GGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGA AGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	113	0.0088	1086	c.53 others(1097): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCCTCTCCT CCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTTTCTCCCTCCCTC TCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTC CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCCCCTCCCTCCCTCCCTCTCTCTTTCACCCTCCCTTCCTTTC TCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTCCCTCTCTC TCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTCCCTCCTCT CC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
ZNF675_chr19_23647801_23692212	23658855	A A	ATATAGAT others(1079): Show ATATAGATCTATAGATACCGATCTATAGATATAGATCTATAGATACCGAT CTATAGATATAGATCTATAGATACCGATCTATAGATATAGATCTATAGAT ACCGATCTATAGATATAGATCTATAGATACCGATCTATAGATATAGATCT ATAGATACCGATCTATAGATATAGATCTATAGATACCGATCTATAGATAT AGATCTATAGATACCGATCTATAGATATAGATCTATAGATACCGATCTAT AGATATAGATCTATAGATACCGATCTATAGATATAGATCTATAGATACCG ATCTATAGATATAGATCTATAGATACCGATCTATAGATATAGATCTATAG ATACCGATCTATAGATATAGATCTATAGATACCGATCTATAGATATAGAT CTATAGATACCGATCTATAGATATAGATCTATAGATACCGATCTATAGAT ATAGATCTATAGATACCGATCTATAGATATAGATCTATAGATACCGATCT ATAGATATAGATCTATAGATACCGATCTATAGATATAGATCTATAGATAC CGATCTATAGATATAGATCTATAGATACCGATCTATAGATATAGATCTAT AGATACCGATCTATAGATATAGATCTATAGATACCGATCTATAGATATAG ATCTATAGATACCGATCTATAGATATAGATCTATAGATACCGATCTATAG ATATAGATCTATAGATACCGATCTATAGATATAGATCTATAGATACCGAT CTATAGATATAGATCTATAGATACCGATCTATAGATATAGATCTATAGAT ACCGATCTATAGATATAGATCTATAGATACCGATCTATAGATATAGATCT ATAGATACCGATCTATAGATATAGATCTATAGATACCGATCTATAGATAT AGATCTATAGATACCGATCTATAGATATAGATCTATAGATACCGATCTAT AGATATAGATCTATAGATACCGATCTATAGATATAGATCTATAGATACCG ATCTATAGATATAGATCTATAGATACCGATCTATAGATATAGATCTATAG ATACCGATCTATAGATATAGATCTATAGATACCGATC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0204 a0003c0004t0004g0204	1	340	0.0029	1086	c.226 others(1103): Show c.226+3258_226+3259insGATCGGTATCTATAGATCTATATCTATA GATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATAGATCTATA TCTATAGATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATAGA TCTATATCTATAGATCGGTATCTATAGATCTATATCTATAGATCGGTATC TATAGATCTATATCTATAGATCGGTATCTATAGATCTATATCTATAGATC GGTATCTATAGATCTATATCTATAGATCGGTATCTATAGATCTATATCTA TAGATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATAGATCTA TATCTATAGATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATA GATCTATATCTATAGATCGGTATCTATAGATCTATATCTATAGATCGGTA TCTATAGATCTATATCTATAGATCGGTATCTATAGATCTATATCTATAGA TCGGTATCTATAGATCTATATCTATAGATCGGTATCTATAGATCTATATC TATAGATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATAGATC TATATCTATAGATCGGTATCTATAGATCTATATCTATAGATCGGTATCTA TAGATCTATATCTATAGATCGGTATCTATAGATCTATATCTATAGATCGG TATCTATAGATCTATATCTATAGATCGGTATCTATAGATCTATATCTATA GATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATAGATCTATA TCTATAGATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATAGA TCTATATCTATAGATCGGTATCTATAGATCTATATCTATAGATCGGTATC TATAGATCTATATCTATAGATCGGTATCTATAGATCTATATCTATAGATC GGTATCTATAGATCTATATCTATAGATCGGTATCTATAGATCTATATCTA TAGATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATAGATCTA TATCTATAGATCGGTATCTATAGATCTATATCTATAGATCGGTATCTATA GATCTATA	ZNF675	ENSG00000197372.10	transcript	ENST00000359788.9	protein_coding	3/3			chr19	TogoVar
ABCB5_chr7_20610667_20762008	20668924	A A	AGGAAGTG others(1080): Show AGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGT GGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGCGGAGGGGGTGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0004 a0005c0015t0004	a0005c0015t0004g0215 a0005c0015t0004g0215	1	293	0.0034	1087	c.170 others(1108): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGAGGGGGTGTCGGCCAGCCGCCCTGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADPRHL1_chr13_113394611_113458488	113412948	T T	TGCCCCGC others(1080): Show TGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAACTC GGTTCACCCACCGCCAACAGTACCCCGCAGAACTCGGTTCACCCACCGCC AACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGTGCCCCGCAG AACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCA CCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCC CGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTC ACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAG TGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTC GGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCC AACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAG AACTCGGTTCACCCACCGCCAACAGCGCCCCGCGGAGGCTCGGTTCACCC ACCGCCAACAGCGCCCCGCGGAGGCTCGGTTCACCCACCGCCAACAGCGC CCCGCAGAGCTCGGTTCACCCACCGCCGACAGCGCCCCGCAGAACTCGGT TCACCCACCGCCGACAGCGCCCCGCGGAGCTCGGTTCACCCACCGCCAAC AGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGC TCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCG CCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGC AGAACTCGGTTCACCCACCGCCAACAGTGCCCCGCAGAACTCGGTTCACC CACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGC CCCGCAGAGCTCGGTTCACCCACCGCCAACAGCTCCTCGCAGAGCTCGGT TCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAAC AGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0104 a0004c0009t0104	a0004c0009t0104g0211 a0004c0009t0104g0211	1	38	0.0263	1087	c.106 others(1106): Show c.1062-4729_1062-4728insGCTGTTGGCGGTGGGTGAACCGAGCT CTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTT GGCGGTGGGTGAACCGAGCTCTGCGAGGAGCTGTTGGCGGTGGGTGAACC GAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCG CTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCACTGTTGGCGGTGGGT GAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCG GGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGG TGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCT CTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCCGCGGGGCGCTGTC GGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTGTCGGCGGTGGGTGAACC GAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGC GCTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGCGCTGTTGGCGGTGG GTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTG CGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGC GGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG CTCTGCGGGGCACTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTG TTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAA CCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGG CGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGG GTGAACCGAGTTCTGCGGGGCACTGTTGGCGGTGGGTGAACCGAGCTCTG CGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGTACTGTTGGC GGTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG TTCTGCGGGGC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1080): Show AAGGGGAAAGGAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGAA GGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGGAG AAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAG GAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAG AAAGGGAGAGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAG GGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGG GAAGGGGGAGGGGGAAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGA AGGGAAGGGAAAGGAAGGGGAAGGGAAGGGAAGGGGAGGAGAAGGGGGAA GGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGGCAA GGGGAAAGGAAGGAGGGGGGAGGGGAAGGGAAGGGGAGGGGAAGGGGAAG GGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGG GGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGGAGG GGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGGAAGGAAGGGGAAGGGG AATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGGAGGGG AAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAGGGGGAGGAAAGGAA AGGGGAAGGGAAGGGGAAGGGAAGAGAAAGGAAGGGGAAGGGAAGGAGAA GGGGAGGGGAAGGGGAAGGGAAAAGGAGAAGAAGAGGGGAAGGGGAGGGG AAGGGAAGGGGAAAGGAAGGAAGGGGGAGGGGAAAGGAAGGAAGGGGGAG GGGAAGGGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGAA GGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0237 a0001c0001t0005g0237	1	52	0.0192	1087	c.927 others(1104): Show c.927+4817_927+4818insCCCCTTCCCCTCCTCTTCTCCTTCCTTT TCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCC TCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTC CCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCT TCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTT CCCTTCCCCTTTCCTTTCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCC CTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTT CCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCT TTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCT TTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC CTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCCTCCT TCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTT TCCCTTCCCCTTCCCCCTTCTCCTCCCCTTCCCTTCCCTTCCCCTTCCTT TCCCTTCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCTTT CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCC CTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCC CTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCT CTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCT CTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTC CCTTCCTTTTCTCCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCT TCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTCCCCCTTCCTC CTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ASMTL_chrX_1398139_1457909	1439671	A A	ACCCCGTC others(1080): Show ACCCCGTCTCTACTAAAAATACAAAATATCAGTCGGGCACCTGTAATCTC AGCTACTCAGGAGGCTGAGGCAGCAGAATCGCTTGAACCTAGGAGGCGGA GGTTGCAGTGAGCCAAGGTTGCGCACCTGCACTCCAGCCTGGGTGACAGA GTGAGACTCAGTCTCCAAAAAAAAAAAGAAAAAAAAAAACAAGGAAAAGA AAGAAAAAGAAAAAGGTACTTAGGACGATAAAACAAATCCAGGTTGAAAA TTCAGCCTCAGAGCAACAGGCAGTCACAGGACATCTGTGTGCAGCTTTGA CCTTAGCTCAGCCCCGCACTGGCCTCCCTAAGCTGTGCACTGCCAAAACC CACAATCAATACTCCTGTCTTGATAGCACGACTCACAACAGCCTTACCTC TAATGTATTTCTTTCTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCGCT CTGTCGCCCAGGCTGGAGGGCAGTGGCGCGACCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCAGCCAATATTTTGTGTGTGTTTT TAGTACAGACGGGGTTTCACCGTGTGAGCCAGGATGGTCTTGAACTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGTG TGAGCCACTGCACCCGGCCCCGAATGTATTTCTTATATTAACAGTAATGG TATATTGTGTGGTAACACACAGCAGCAGGGAAGCTACATTAACTCTATAT CCTAAATGATAGCATTATATTCATTGTAACAGCAAGTTAAAACACACAGT AATAGCTATGTTAATTTTATATACTGTGACTGACATTATGTTAGAGTCAT ATATAACATATAGTAATTGATAAGCTACATTAATTGTACATCCTAAATGA CAGTAGTGTATTAATTATAATAGTGTATTACGGTGGGGTGCGGTGGCTCA CGCCTGTAATCCCAACACTCCGGGAGGCCGAGGCGGGTGGATCACCTGAG GTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0138 a0001c0008t0001g0138	1	183	0.0055	1087	c.225 others(1103): Show c.225+1428_226-528dupCTTCACCATGTTGGCCAGGCTGGTCTCCA ACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCGGAGTGTTGGGA TTACAGGCGTGAGCCACCGCACCCCACCGTAATACACTATTATAATTAAT ACACTACTGTCATTTAGGATGTACAATTAATGTAGCTTATCAATTACTAT ATGTTATATATGACTCTAACATAATGTCAGTCACAGTATATAAAATTAAC ATAGCTATTACTGTGTGTTTTAACTTGCTGTTACAATGAATATAATGCTA TCATTTAGGATATAGAGTTAATGTAGCTTCCCTGCTGCTGTGTGTTACCA CACAATATACCATTACTGTTAATATAAGAAATACATTCGGGGCCGGGTGC AGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGTTCAAGACCATCCTGGCTCACACGGTGAAACCCCG TCTGTACTAAAAACACACACAAAATATTGGCTGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCCCTCCAGCCT GGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAAGA AATACATTAGAGGTAAGGCTGTTGTGAGTCGTGCTATCAAGACAGGAGTA TTGATTGTGGGTTTTGGCAGTGCACAGCTTAGGGAGGCCAGTGCGGGGCT GAGCTAAGGTCAAAGCTGCACACAGATGTCCTGTGACTGCCTGTTGCTCT GAGGCTGAATTTTCAACCTGGATTTGTTTTATCGTCCTAAGTACCTTTTT CTTTTTCTTTCTTTTCCTTGTTTTTTTTTTTCTTTTTTTTTTTGGAGACT GAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGGTGCGCAACCTTGGCTC ACTGCAACCTCCGCCTCCTAGGTTCAAGCGATTCTGCTGCCTCAGCCTCC TGAGTAGCTGAGATTACAGGTGCCCGACTGATATTTTGTATTTTTAGTAG AGACGGGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	2/12			chrX	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(1080): Show CCACCACCATCATCATCACCATCAATCAACACCATCATCAACACCACCAT CACCACCAACCACCACCACACCACCACCACCACCATCACACCCATCACCA CCACCACCCACATCACCACCATCACCACACACCACCACCACCCATCACCA CCACCACCACAACACCATCACCACCATCACCACCATCACCACCACCACCA CCACCATCACCACCACCACCACCACCATCACCACCACCACCATCACCATC ACCACCACCATCACCACCACCATCAACACCATTACCACCACCACCACTAC CACCACCATCAATACCACCATCACCACCACCATCATCATCACCATCACCA CCATCATCACCACCACCATCACCACCATCACCATCACCATCACCACCATC ACCATCACCACCACCACCATCATCACCACCATCACCACCAGCACCACCAC TATCAACATCATCATCATCACCACCATCAACACCATCATCACCACCACTG TCATCACCACCACCACCACCATCACCACCACCATCACCACCATCTCACCA TCACCATCACCACCATCATCACCACCACCATCACCACCACCATCATCACC ATCACCACCATCATCATCACCACCATCACCACCACCATCACCACCACCAT CACCATCACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCA CCACCATCAACATCATCATCATCACCACCATCACCACCATCATCACCACC ACCGTCATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTC ACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCACCAT CACCATCACCATCACCACCATCTCACCATCACCATCACCACCACCATCAC CATCACCATCACCACCATCATCATCACCACCATCACCACCACCACCACCA CCATCATCACCATCACCACCAGCACCACCACCAACATCATCATCATCACC ACCACCACCACCATCACCACCACCACCACCATCAACACCACCATCACCAC CACCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	151	0.0066	1087	c.63+ others(1100): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGAT GATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTGGTGAT GACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATGATGTTGA TGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGATGATGGT GGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGA TGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGG TGATGACAGTGGTGGTGATGATGGTGTTGATGGTGGTGATGATGATGATG TTGATAGTGGTGGTGCTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGGTGATGGTGATGGTGGTGATGGTGGTGGTGA TGATGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTATTGATG GTGGTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGGTGGTGGTGATGGT GGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGTTGTGG TGGTGGTGGTGATGGGTGGTGGTGGTGTGTGGTGATGGTGGTGATGTGGG TGGTGGTGGTGATGGGTGTGATGGTGGTGGTGGTGGTGTGGTGGTGGTTG GTGGTGATGGTGGTGTTGATGATGGTGTTGATTGATGGTGATGATGATGG TGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1080): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGG AGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGG AGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGG GAGGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGG GAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0101 a0101	a0101c0124 a0101c0124	a0101c0124t0001 a0101c0124t0001	a0101c0124t0001g0208 a0101c0124t0001g0208	1	98	0.0102	1087	c.118 others(1106): Show c.11806-562_11806-561insCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC CTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCCTCCCTCCCTCCTCCTCCCTCCTCCCTCCCTCCTCCTCCTCCCTC CTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCC TCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTC CCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTC CCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1080): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGG GAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAGG AGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGG GGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGA GGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGA GGGAGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAG GAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0001 a0001c0111t0001	a0001c0111t0001g0072 a0001c0111t0001g0072	1	98	0.0102	1087	c.118 others(1106): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTC CTCCTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCC CTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCCT CCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTC CTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCC CTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTC CCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(1080): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTG TTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	224	0.0045	1087	c.215 others(1104): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGA GAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(1080): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTG TTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	224	0.0045	1087	c.215 others(1104): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGA GAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results