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
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(719): Show TCCCCTTTCCCCCCTCTCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTC TCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTC CCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTCC CCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCACC CCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCC TCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCTCTCCCTCTTTCTC CTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTCC TTCCCGCTCCTCTCTCCCCTTTCTCCCTCTCTCTCCTCCCCCTCCCTCTC TCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCC CCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTG CCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTC CCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCTTTC CCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTC TCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCC ACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	4	0.2500	726	c.126 others(743): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGG AGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAGGGC AGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGGGG GGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAG AGAGGGAGGGGGAGGAGAGAGAGGGAGAAAGGGGAGAGAGGAGCGGGAAG GAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGG AGAAAGAGGGAGAGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAG GGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGG GTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGG GAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGG AGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAG AGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(719): Show CAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAG CTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACA CCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAA AAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCT GAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAAT ATGGTAAGACCCTATTATCTACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0059 a0001c0003t0003g0059	1	44	0.0227	726	c.-31 others(737): Show c.-3105_-3104insTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTT GTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGG GCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGC ACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAATG GGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAA TCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACC ACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(719): Show CAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACAC CAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAA AAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTG AGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATA TGGTAAGACCCTATTATCTACAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	44	0.0227	726	c.-31 others(737): Show c.-3105_-3104insTTTTTTGTAGATAATAGGGTCTTACCATATTGCC CATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTC CCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTT GTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGG GCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGC ACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAATG GGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAA TCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACC ACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(719): Show TCTACCACCTCTACCACCACTACCACCTCTACCACCTCTACCACCACTAC CACCTCTACCACCTCTACCACCACCATCACCACCACCACCACTACCACCT CTACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCACCATC ACCACCACCACCACCACTACCACCTCTACCACCACCACCACCACCACCAC CACCACTACCACCTCTACCACCTCTACCACCACGACCACCACTACCACCT CTACCACCACCATCATCACCACCACCACTACCACCTCTACCACCACCATC ACCACCACCACCACCATCACCACCACCATCACCACCACCACTACCACCTC TACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCATCA CCACCATCATCACCACCACCACTACCACCTCTACCACCACCATCACCACC ACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCATCAC CTCTACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCATCACCACCTCTACCACCACCATCACCACCACCACTATCACC ACCTCTACCACCACCATCACCACCACCACCACCACCTCTACCACCACCAT CACCACCACCACCACCACCACCTCTACCACCACCATCACTACTACCACCA CCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG02622.hp1 HG03130.hp1	a0011 a0022 a0011 a0022	a0011c0013 a0022c0019 a0011c0013 a0022c0019	a0011c0013t0005 a0022c0019t0015 a0011c0013t0005 a0022c0019t0015	a0011c0013t0005g0002 a0022c0019t0015g0057 a0011c0013t0005g0002 a0022c0019t0015g0057	2	20	0.1000	726	c.520 others(747): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTA GAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGT GGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTG GTAGAGGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGG TAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTG GTGGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGT GGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGG TAGAGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGAG GTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTAGAGGTGGT AG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
JAKMIP3_chr10_132060946_132189858	132172970	T T	TCTCTCCT others(719): Show TCTCTCCTTCCCTCTCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTC TCCCTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTC CCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTACC TCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTC CCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTC TCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTC TCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCTTCCCTC TCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTC TCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCC TCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCTCCCCC TCTCCTTCCCTCTCTCCCTCCCCATCTCCTTCCCTCTCTCCCTCTCCCCC TCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCC TCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTC TCCCTCCCTCTCCCTCCCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0029 a0001c0017t0029	a0001c0017t0029g0012 a0001c0017t0029g0012	1	153	0.0065	726	c.11 others(747): Show c.1103+3956_*1103+3957insCTTCCCTCTCTCTCTCCCTCTCCT TCCCTCTCCCTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCCCCCTC TCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTC CTTACCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTC TCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTC CCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCT TCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCT TCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCT TCCCTCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTC CTTCCCTCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCC TCCCCCTCTCCTTCCCTCTCTCCCTCCCCATCTCCTTCCCTCTCTCCCTC TCCCCCTCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTC CTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTC CCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCC TCCCTCTCCCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTC TC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	167997234	G G	GGGGCGGG others(719): Show GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT GGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01169.hp2 HG00738.hp1 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0006 a0001c0001t0001g0235 a0001c0001t0001g0236	3	364	0.0082	726	c.-22 others(737): Show c.-2235_-2234insGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTG CAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		436		chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360513	G G	GGGTGGGG others(719): Show GGGTGGGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGT GGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGG GTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGAT GGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGA ATAGATGGGTGGGTGGATGGGTGGGTGGATGGATAGGTGGATGGGTGGGT GGAGGAATAGATGGGTGGGTGGATGGGTGGGTGGATGGATAGGTGGATGG GTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG ATGGGTGGGTGGATGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAG GAATAGATGGGTGGGTGGATGGGTGGGTGGATGGATAGGTGGATGGGTGG GTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGAT GGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAG ATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGT GGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGG GTGGGTGGGTGGGTGGGTGGATGGATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0001 a0023c0022t0001	a0023c0022t0001g0154 a0023c0022t0001g0154	1	153	0.0065	726	c.450 others(743): Show c.450+1886_450+1887insTATCCATCCACCCACCCACCCACCCACC CATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCA CCCATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATC TATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCA TCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACC CACCCATCCACCTATCCATCCACCCACCCATCCACCCACCCATCTATTCC TCCACCCACCCATCCACCTATCCATCCACCCACCCATCCACCCACCCATC TATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCA CCCATCTATTCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCACC CATCCACCTATCCATCCACCCACCCATCCACCCACCCATCTATTCCTCCA CCCACCCATCCACCTATCCATCCACCCACCCATCCACCCACCCATCTATT CCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCA TCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACC CACCCATCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCA CCCACCTACCTATCCTTCTACCCACCCACCCATCTATCCCTCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(719): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTC GGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGG ACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGATGGGTGT GCAGTGGTGTCTCGGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0276 a0001c0010t0001g0276	1	82	0.0122	726	c.153 others(745): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGTGACACCACGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCG TCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCC CGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(719): Show ACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGT GAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAG TGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19066.hp2 NA19003.hp2 NA19066.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0129 a0001c0005t0001g0130 a0001c0005t0001g0129 a0001c0005t0001g0130	2	206	0.0097	726	c.153 others(745): Show c.1530-4293_1530-4292insAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACC ACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACT CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC ACCCCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACCCAC others(719): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCGCACCAGCCTCCTACACGTCCACACAGACACCCACCC CGCACCAGCCTCCTACACGTCCACACAGACACCCACCCCGCACCAGCCTC CTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCC ACACAGACACCCACCCCACACCAGCCTCCTGCACATCCACACAGACACAG ACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAG CCTCCTACACGTCCACACAGACACCCACCCCGCACCAGCCTCCTACACGT CCACACAGACACCCACCCCGCACCAGCCTCCTACACGTCCACACAGACAC CCACCCCGCACCAGCCTCCTACACGTCCACACAGACACCCACCCCGCACC AGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0084 a0001c0012t0001g0084	1	154	0.0065	726	c.503 others(741): Show c.503+481_503+482insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTG TGTCTGTGTGGATGTGCAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(719): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CATCAAATGAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCACTG GTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0331 a0002c0008t0003g0331	1	27	0.0370	726	c.197 others(745): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTCATTTGAT GAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGACCA GTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGACCTGTAG GCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAG TGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(719): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCACTG GTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01070.hp2 others(50): Show HG00408.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04228.hp1 NA18940.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19083.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(47): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0330 a0005c0006t0001g0069 a0005c0006t0001g0075	53	79	0.6709	726	c.197 others(745): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTTATTTGAC GAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGACCA GTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGACCTGTAG GCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAG TGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(719): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTC CCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCC CCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCT TCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCC CCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCC CCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCC CCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCC CCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCT TGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTC CCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCT CCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02132.hp2 NA18983.hp1 others(2): Show HG00423.hp1 HG02132.hp2 NA18983.hp1 NA19007.hp1 NA19079.hp1	a0001 a0001	a0001c0007 a0001c0010 a0001c0007 a0001c0010	a0001c0007t0003 a0001c0010t0003 a0001c0007t0003 a0001c0010t0003	a0001c0007t0003g0222 a0001c0010t0003g0130 a0001c0010t0003g0132 others(2): Show a0001c0007t0003g0222 a0001c0010t0003g0130 a0001c0010t0003g0132 a0001c0010t0003g0217 a0001c0010t0003g0218	5	12	0.4167	726	c.115 others(743): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTC CTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCC CCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCT TCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTC CCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCC GCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCC TCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCC GCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCC CTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCC TCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH7_chr1_54636786_54715266	54658614	T T	TGAAAATT others(719): Show TGAAAATTTATACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCT GTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAAG GCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCG TTAAGAGTCATCACCAATCCCTAATCTCAAGCAATCAGGGACACAAACAC TGCAGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTC ACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCA AATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATT AAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0369 a0003c0024t0003g0369	1	377	0.0027	726	c.123 others(745): Show c.1231+4468_1231+4469insCTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGT GTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGT GGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTT GCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTC TGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTT ACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTA AATGGATTAAAGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGCAATCAG GGACACAAACACTGCAGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAG AGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCC ATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATA AAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTTATA	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCCTAC others(719): Show CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	246	0.0041	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0157 a0002c0003t0001g0157	1	246	0.0041	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0152 a0002c0003t0001g0152	1	246	0.0041	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0146 a0002c0003t0001g0146	1	246	0.0041	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0145	1	246	0.0041	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0068 a0002c0003t0001g0068	1	246	0.0041	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(719): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	6	0.1667	726	c.-8+ others(739): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(719): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATACATATTTCAATATAAGTATGTATATAAATA TACATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAAATA TATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATAAG TATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATA TATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATG TATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATATA TTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0184 a0003c0003t0001g0184	1	156	0.0064	726	c.358 others(743): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGT ATGTATATAAATATACATATTTCAATATAAGTATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATAT ATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATGT ATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATATATTT AAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATATATAT AAAAATATATATATTTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(719): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGTATGTA TATAAATATACATATTTCAATATAAGTATATAAAAATATATATATTTCAA TATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATA TATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	156	0.0064	726	c.358 others(743): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCA ATATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAAT ATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTAT GTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT GTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATATTTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(719): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCG CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCT ACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCC TTACCGACCCTGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	167	0.0060	726	c.147 others(745): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(719): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTA TATATACACAGTATGTATACTGCATGCAGTATGTATACAGTATACATACT GCATGCAGTATGTATACAGTATACATACTGTATGCAGTATGTATACTGTA TACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGT ATACTGTATATATACACAATACAGTATGTATACTGTATATATACACAATA CAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATAT ACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACT GTATATATACACAATACAGTATGTATACTGTATATATACACACAGTATGT ATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0142 a0002c0006t0006g0142	1	118	0.0085	726	c.-75 others(745): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACT GTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATACAGTATGTATACTGTATACATACTGCATG CAGTATGTATACTGTATACATACTGCATGCAGTATACATACTGTGTATAT ATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACATACAGTATACATACATACAGTATACATACATACAGTAT ACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(719): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGG TGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGG GTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGG GTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGA GGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGG GGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCG GGTGGGGTGGCAGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAG AGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTG GCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATAC CAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGTGA GAGGTCATACCGGGTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	150	0.0067	726	c.346 others(745): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCT GGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCG CCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACC TCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACTGCCACCCCAC CCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTAC CCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGAC CTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCA CCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTA CCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCAC TACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTAT GACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACC CCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(719): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATA CTATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0088 a0002c0004t0001g0088	1	254	0.0039	726	c.-16 others(737): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATAC TCTATAGTATATATACTATATATACTATAGAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PCBP3_chr21_45638725_45947450	45923981	A A	AGTGGATA others(719): Show AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGA TAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGTGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0087 a0001c0004t0002g0087	1	236	0.0042	726	c.718 others(743): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(719): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	168	0.0060	726	c.718 others(743): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(719): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01255.hp2 others(9): Show HG00280.hp1 HG01070.hp2 HG01255.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp2 NA18959.hp1 NA19081.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0050 a0001c0001t0002g0052 others(9): Show a0001c0001t0002g0039 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0080 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0269	12	179	0.0670	726	c.718 others(743): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(719): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp2 NA18962.hp1 others(2): Show HG02015.hp1 HG02523.hp2 NA18962.hp1 NA19007.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0235 a0001c0001t0007g0239 a0001c0001t0007g0244 others(2): Show a0001c0001t0007g0235 a0001c0001t0007g0239 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0259	5	172	0.0291	726	c.718 others(743): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924216	C C	CGAGGAGA others(719): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATTGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCACGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCACGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	258	0.0039	726	c.718 others(743): Show c.718-5646_718-5645insTGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924299	C C	CGGGAACA others(719): Show CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGG AACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAA CAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAG ATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp2 HG01981.hp2 others(1): Show HG01361.hp1 HG01516.hp2 HG01981.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0272 a0001c0001t0005g0278 a0001c0001t0005g0279 others(1): Show a0001c0001t0005g0272 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0291	4	276	0.0145	726	c.718 others(743): Show c.718-5607_718-5606insAGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACA GTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924377	A A	AGTGGGTA others(719): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	203	0.0049	726	c.718 others(743): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA TGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924754	T T	TGAACACT others(719): Show TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	235	0.0043	726	c.718 others(743): Show c.718-5157_718-5156insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAAC ACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924827	C C	CAGGAACA others(719): Show CAGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGG TAGAAACAGCACACGTAAGATCAGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGG AACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGG AGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACTGGGAACAGTCGTGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	257	0.0039	726	c.718 others(743): Show c.718-5090_718-5089insAGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCAGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA TGAGGAGATGTGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGTGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924876	C C	CGAGGAGA others(719): Show CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACCGGGAACGGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	261	0.0038	726	c.718 others(743): Show c.718-5032_718-5031insCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACGGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(719): Show ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGACGAGATGCAAACACTGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGA GATGCGAACACCAGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAACACCAGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACACTGGGAACAGTC GAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0021 a0001c0001t0015g0021	1	161	0.0062	726	c.718 others(743): Show c.718-4779_718-4778insACGAGGAGATGCGAACACCGGGAACAGT CGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGACGAGATGC AAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGT GTGCACGAGGAGATGCGAACACCAGGAACAGTCGAGTGGGTAGAAACAGC ACACGTAAGGTCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAAC ACCAGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACAC TGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(719): Show ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGTGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACACTGGGAACAGTC GAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	161	0.0062	726	c.718 others(743): Show c.718-4779_718-4778insACGAGGAGATGCGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACCGGGAACAGTCGTGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACAC TGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925150	C C	CGAACACC others(719): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19043.hp2 HG02145.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0100 a0001c0001t0003g0101	2	257	0.0078	726	c.718 others(743): Show c.718-4760_718-4759insGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTG CACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925150	C C	CGAACACC others(719): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACTGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCAAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	256	0.0039	726	c.718 others(743): Show c.718-4760_718-4759insGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCAAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCCTAC others(719): Show CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	226	0.0044	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	226	0.0044	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	226	0.0044	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	226	0.0044	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	226	0.0044	726	c.15 others(737): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGG GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(719): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	5	0.2000	726	c.15 others(737): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(719): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCATCACCATCACCATCACCACCACCATC ACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCAT CACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCA CCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACC ATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCAT CACCACCATCATCACCACCATCACCATCACCACCACCATCACGATTATCA CCATCACCGCCATCATTACCACCATCATCACCATCACCACCACCATCACC ACCGCCACCATCATCATCACCACCACCACCATCACCAGCGCCACCACCAC CATCACCATCACCACCACCACCATCACCATCACCACCATCATCACCATTA TCATCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATC CTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0015 a0008c0013t0015	a0008c0013t0015g0006 a0008c0013t0015g0006	1	70	0.0143	726	c.120 others(745): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGT GATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGGTGA TGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATG GTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGATGGT GATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGGTAG TGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTG TGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(719): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCATCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCACCAT CACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCACCA TCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATC ACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCAC CACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCA CGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACC ACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGC CACCACCATCACCATCACCACCATCACCATCGCCACCATCATCACCATTA TCATCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATC CTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0269 a0001c0002t0005g0269	1	70	0.0143	726	c.120 others(745): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGT GGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGATGG TGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATC GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGT GGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGG TGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTG ATGGTGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGT GATGGTGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGG TAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTG TGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(719): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCATCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCATCAC CATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCA CCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATC ACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCAC CACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCA CGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACC ACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGC CACCACCATCACCATCACCACCATCACCATCGCCACCATCATCACCATTA TCATCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATC CTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG01109.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0003 a0002c0003t0032 a0001c0006t0003 a0002c0003t0032	a0001c0006t0003g0255 a0002c0003t0032g0256 a0001c0006t0003g0255 a0002c0003t0032g0256	2	71	0.0282	726	c.120 others(745): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGT GGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGATGG TGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATC GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGT GGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGG TGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTG GTGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGAT GGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGG TAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTG TGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar

Search by Variant

Search

Search Results