Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(629): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	74	0.0135	636	c.737 others(651): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCCACTCATGCCCCTGAGAGCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CUX2_chr12_111029165_111355554	111326279	G G	GGAGGGAG others(629): Show GGAGGGAGGGGTGGGTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGT TTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTG GTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTT TTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGG TGGGGGAGGGGTGGGTTTTGTTTATAGTGTGGTGGGGGAGGGGTGGGTTT TGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGT GGGGGAGGGTGGGTTTTGTTTATAGTGTTGTGGGGGGAGGGGTGGGTTTT GTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTGG GGGAGGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTT TTGTTTATAGTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGG TGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTT TGTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTG GTGGGGGAGGGGTGGTTTTTGTTTATAGTGTTGGGGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	98	0.0102	636	c.292 others(655): Show c.2926+3700_2926+3701insAGGGAGGGGTGGGTTTGTTTATAGTG TTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAG TGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGT GTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGG GTTTTGTTTATAGTGTTGTGGTGGGGGAGGGTGGGTTTTGTTTATAGTGT TGTGGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGG TTTTGTTTATAGTGTTGTGTGGGGGAGGGGGTGGGTTTTGTTTATAGTGT TGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGGTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGT GTTGTGGGGGAGGGGTGGGTTTTGTTATAGTGTTGTGGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGTTTTTGTTTATAG TGTTGGGGTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DAZAP1_chr19_1402586_1440684	1420122	T T	TCCCGAAC others(629): Show TCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGC ACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACG CGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCC ACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCAC CCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACT CACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGC ACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCG AGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCG GCGAGCACTCACCCCACGCGCACACTCATGAAACCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0011 a0001c0001t0017	a0001c0001t0011g0311 a0001c0001t0017g0312 a0001c0001t0011g0311 a0001c0001t0017g0312	2	279	0.0072	636	c.304 others(651): Show c.304-762_304-761insCCCCGAACGTCACGGCGGCGAGCACTCACC CCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTC ACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCA CTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGA GCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGG CGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGG CGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCA CGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACG TCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGA ACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCC CGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA CCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCA	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DCLK1_chr13_35763652_36136382	35958126	C C	CCACTACT others(629): Show CCACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACC ACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCAC CATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCA CTACCACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACC ACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTATAACCATCACCACCATCACTACTATAACCACCACC ACCACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCAC CACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCA CCACCACTACCACTACTATAACCATCACCACCATCACTGCTATAACCACC ACCACCACCACTATAACCATCACCACCATCACCACTATAACCACCACTAC CACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCA TCACCACCACTACCACTACTATAACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0149 a0001c0009t0011g0149	1	221	0.0045	636	c.724 others(655): Show c.724-10670_724-10669insATGGTGGTGATGGTTATAGTAGTGGT AGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAA TGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATA GTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTA TAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTT ATAGTGGTGGTGGTGGTGGTTATAGTAGTGATGGTGGTGATGGTTATAGT AGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGG TTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATG GTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTAT AGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGA TGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTG ATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGT TACAGTAGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958136	A A	AACCATCA others(629): Show AACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACCA TCACCACCATCACCACTATAACCACTAGCACCACCACCACCATTATAACC ATCACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTAC TATAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAA CCATCACCACCATCACCACTATAACCACTAGCACCACCACCACTACTATA ACCATCACCACCGCTATAACCACCATCACCACCACCACTACCACTACTGT AACCATCACCACCACCACTGCTATAACCACCACCACCACCACCACCACTA TAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCATT ATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTAC CACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCA CTATAACCATCACCACCATCACCACTATAACCACTAGCACCACCACCACT ACTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCAC TACTGTAACCATCACCACCACCACTGCTATAACCACC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0221 a0001c0009t0005g0221	1	192	0.0052	636	c.724 others(655): Show c.724-10680_724-10679insGGTGGTTATAGCAGTGGTGGTGGTGA TGGTTACAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTG ATGGTTATAGTAGTGGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGT GATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGG TTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTG GTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGT GGTGATGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGGTGG TGGTGATGGTTACAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCG GTGGTGATGGTTATAGTAGTGGTGGTGGTGCTAGTGGTTATAGTGGTGAT GGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGG TGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGATGGTTATAATGGTGGTGGTGGTGCTAGTGGTTATAGTGGT GATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGG TGGTGATGGT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	657527	C C	CGCTAGAC others(629): Show CGCTAGACCTGTCCCTGGACCTCACACTGGACCTGTCCCTGGACCTGCCC CTGGACCTGCCGCTGGACCTGCCGCTGGACCTGATGCTGGACCTGATGCT GGACCTGCCCCTGGACCTGCCCCTGGACCTGTCCCTGGACCTGCCGCTGG ACCTGATGCTGGACCTGACACTGGACCTGCCCCTGGACCTGCCCCTGGAC CTGCCGCTGGACCTGACACTGGACCTGCCACTGGACCTGACGCTTGACCT GATGCTGGACCTCTCCCTGGACCTGATGCTGGACCTGCCGCTGGACTTGA CCCTGGACCTGCCCCTGGACCTGCCGCTGGACCTGATGCTGGACCTGTCC CTGGACCTGCCCCTGGACCTGCCGCTGGACCTGCCACTGGACCTGTCCCT GGACCTGCCCCTGGACCTGCCCCTGGACCTGTCCCTGGACCTGCCGCTGG ACCTGCCGCTGGACCTGCCACTGGACCTGACCCTGGACCTGCCCCTGGAC CTGCCCTTGGACCTGTCCCTGGACCTGTCCCTGGACCTGACGCTGGACCT GACACTGGACCTGATGCTGGACCTGTCCCTGGACCTGCCCCTGGACCTGC CGCTGGACCTGTCCCTGGACCTGACGCTGGACCTGCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01258.hp1 others(11): Show HG00597.hp2 HG01099.hp2 HG01258.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02809.hp2 HG03453.hp1 HG03942.hp2 NA18747.hp2 NA18962.hp1 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0008t0001 a0001c0019t0006	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0008 a0001c0001t0004g0019 a0001c0001t0005g0023 a0001c0003t0002g0021 a0001c0004t0001g0086 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0005t0002g0087 a0001c0008t0001g0017 a0001c0008t0001g0018 a0001c0019t0006g0009	14	85	0.1647	636	c.85+ others(653): Show c.85+31966_85+31967insAGCAGGTCCAGCGTCAGGTCCAGGGACA GGTCCAGCGGCAGGTCCAGGGGCAGGTCCAGGGACAGGTCCAGCATCAGG TCCAGTGTCAGGTCCAGCGTCAGGTCCAGGGACAGGTCCAGGGACAGGTC CAAGGGCAGGTCCAGGGGCAGGTCCAGGGTCAGGTCCAGTGGCAGGTCCA GCGGCAGGTCCAGCGGCAGGTCCAGGGACAGGTCCAGGGGCAGGTCCAGG GGCAGGTCCAGGGACAGGTCCAGTGGCAGGTCCAGCGGCAGGTCCAGGGG CAGGTCCAGGGACAGGTCCAGCATCAGGTCCAGCGGCAGGTCCAGGGGCA GGTCCAGGGTCAAGTCCAGCGGCAGGTCCAGCATCAGGTCCAGGGAGAGG TCCAGCATCAGGTCAAGCGTCAGGTCCAGTGGCAGGTCCAGTGTCAGGTC CAGCGGCAGGTCCAGGGGCAGGTCCAGGGGCAGGTCCAGTGTCAGGTCCA GCATCAGGTCCAGCGGCAGGTCCAGGGACAGGTCCAGGGGCAGGTCCAGG GGCAGGTCCAGCATCAGGTCCAGCATCAGGTCCAGCGGCAGGTCCAGCGG CAGGTCCAGGGGCAGGTCCAGGGACAGGTCCAGTGTGAGGTCCAGGGACA GGTCTAGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	978459	C C	CGTGGGGA others(629): Show CGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTTGG TGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTT TGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGT CTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCT GGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGAGCTGGGT TCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTG CGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGAGG GTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAG GTGCTGCGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGT GAGGTGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGC AGTGAGGTGCTGCGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGA TGCAGTGAGGTGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGG GGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	20	0.0500	636	c.73+ others(653): Show c.73+70527_73+70528insCGTTCTGGTCTTTGGTGACGTGGGGAGG GCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTTGGTGACGTGGGG AGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTTTGGTGACGTG GGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGAC GTGGGGAGGGCGTCGGGGATGCAGTGAGGAGCTGGGTTCTGGTCTTTGGT GTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTT GGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTC TTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTG GTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTT CTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGC GTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGC TGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGA GGGTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTG AGGTGCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	978524	G G	GTCGGGGA others(629): Show GTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGACGTGGGGAG GGCGTCGGGGATGCAGTGAGGAGCTGGGTTCTGGTCTTTGGTGTTGTGGG GAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTTGGTGACGT GGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTTGGTGA CGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTTGG TGACGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTT TGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGT CTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCT GGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGCGT TCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTG GGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGAGG GTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAG GTGCTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG02922.hp1 others(2): Show HG00639.hp1 HG01071.hp1 HG02922.hp1 HG03492.hp2 HG03710.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0003 a0003c0005t0002	a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0003t0001g0025 others(2): Show a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0003t0001g0025 a0002c0001t0003g0021 a0003c0005t0002g0030	5	39	0.1282	636	c.73+ others(653): Show c.73+70597_73+70598insACGTGGGGAGGGCGTCGGGGATGCAGTG AGGAGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCA GTGAGGTGCTGCGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGAT GCAGTGAGGTGCTGCGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGG GATGCAGTGAGGTGCTGCGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTC GGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGC GTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTTGGTGACGTGGGGAG GGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTTTGGTGTTGTGGG GAGGGCGTCGGGGATGCAGTGAGGTGCTGCGTTCTGGTCTTTGGTGACGT GGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTTTGGTGT TGTGGGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGG TGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTT TGGTGACGTGGGGAGGGCATCGGGGATGCAGTGAGAGGGTGGGTTCTGGT CTTTGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123911671	T T	TGGGGGGG others(629): Show TGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGG GGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCC TGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGG GGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTC TGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTAGGGGGGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGGGGGGTCTGTCCTGGGGGGGGGTTTGT CCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTTTGTCCT GGGAGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGAGGGGTCTGTCCTGGGG GGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGG TCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCT GTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0128 a0007c0010t0001g0128	1	144	0.0069	636	c.101 others(657): Show c.10134+1006_10134+1007insTCTGTCCTGGGGGGGGTCTGTCCC GGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGT GGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGATCT GTCCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTG GGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGG ATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTG TCCTAGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGGGTCTG TCCTGGGGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTG TCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGGGGTCTGTCCT GGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGG GAGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGG GTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTG TCCTGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK8_chr9_209865_470255	400809	T T	TCACCATC others(629): Show TCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACC ACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCAC CACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCA TCACCACCTCCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCA CCACCATCACCACCACCTCCACCACCACCACCACCACCTCCACCACCATC ACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTC CACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCAC CTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCA CCACCAGCATCTTCACCATCACCACCACCTCCACCAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0007 a0009c0015t0007	a0009c0015t0007g0062 a0009c0015t0007g0062	1	153	0.0065	636	c.323 others(655): Show c.3234+1555_3234+1556insTCACCACCACCTCCACCATCACCACC TCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAA CAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCACCACCA CCACCACCTCCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCACCATCACCACCACCTCCACCACCACCACC ACCACCTCCACCACCATCACCACCACCTCCACCACCATCACCACCACCTC CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCATCACCACCACCACCTCCACCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(629): Show GGAGGTGAGGGGCAGGGGAGGGGAGATGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGG TGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATGAGAGGC AGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGG TGAGATGAGGGACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAGAGGC AGGTGAGGTGAGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGG TGAGATGAGGGATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGCAAGG GAGGTGAGATGAGGGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCGAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTAAGGGGCAGGG GAGGTGAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp1 others(4): Show HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01884.hp2 HG02965.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0001t0038 a0001c0001t0054 a0001c0002t0029	a0001c0001t0005g0226 a0001c0001t0005g0237 a0001c0001t0006g0076 others(4): Show a0001c0001t0005g0226 a0001c0001t0005g0237 a0001c0001t0006g0076 a0001c0001t0026g0193 a0001c0001t0038g0236 a0001c0001t0054g0053 a0001c0002t0029g0213	7	71	0.0986	636	c.62- others(653): Show c.62-26570_62-26569insGCAGGGGAGGGGAGATGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGG GGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGG AGATGAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGG GGCAGGGAAGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGGGTCAGGGG AGGTGAGAGGCAGGTGAGGTGAGATGAGGGGCAGGGGAGATGAGATGAGG GGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGGT GAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGATGAGGGGCA GGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGA GGTGAGGCGAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGT AAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGA GGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATGT others(629): Show ATGTATGTATATTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATTTACA TACATATAAATATATATTTACATACATATAAATATATACATTTATATACA TATAAATATATACATATATACATATAAATATATATTTATATACATATAAA TATATATATTTATATATATTTATATATATATAAATATATATATATTTATA TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATATACATATAAATATATATTTATATACATATAAATATATAATTA TATACATATAAATATATAATTATATACATATAAATATATATAATTATATA CATATAAATATATATTTATATACATATAAATATATATTTATATACATATA AATTTATATACATATAAATATAAATATTTATATTTATATACATATAAATA TATATATTTATATTTATATACATATATATATTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	272	0.0037	636	c.49 others(647): Show c.4940_*4941insATATAAATATATATATGTATATAAATATAAATAT ATATATTTATATGTATATAAATATAAATATTTATATTTATATGTATATAA ATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTAT ATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATGT ATATAATTATATATTTATATGTATATAAATATATATTTATATGTATATAT ATATAAATATATATATATTTATATATATATAAATATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTT ATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATAT GTATGTAAATATATATTTATATGTATATAAATATATATTTATATGTATAT AAATATATATTTATATGTATATAAATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAATATACATA CA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
FLT4_chr5_180596506_180654600	180635661	A A	AAGTATGG others(629): Show AAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAT GGAAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGG GTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGAT GGGTGGGTGGGTGGGTGGATGGATGCATGGATGCATGGAAGTATGGGTGG ATGGGTGGGTGAGTGGGTGGATGGAAGTATGGGTGGATGGGTGGGTGGAT GGGTGGATGGATGCATGTATGGAAGTAAGGGTGGATGGGTGGATGGGTGG GTGGGTGGATGCATAGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGT GGGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGG GTGAGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGAT GGGTGGGTGGGTAGGTGGATGGATGCATGGATTGAATTATGGGTGGATGG GTGGGTGGGTGGGTGGGTGGATGGATGGATGCATGGATGGAAGTATGGGT CAATGGGTGGATGGGTGGGTGGGTGGGGGGATGGATGGATGCATGGATGG AAGTATGGGTCAATGGGTGGATGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0059 a0003c0005t0001g0059	1	283	0.0035	636	c.59- others(651): Show c.59-3884_59-3883insCCCACCCACCCACCCATCCACCCATTGACC CATACTTCCATCCATGCATCCATCCATCCCCCCACCCACCCACCCATCCA CCCATTGACCCATACTTCCATCCATGCATCCATCCATCCACCCACCCACC CACCCACCCATCCACCCATAATTCAATCCATGCATCCATCCACCTACCCA CCCACCCATCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACC CACTCACCCACCCATCCACCCATCCACCCTTACTTCCATCCATGCATCCA TCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATCTATGCATC CACCCACCCACCCATCCACCCATCCACCCTTACTTCCATACATGCATCCA TCCACCCATCCACCCACCCATCCACCCATACTTCCATCCACCCACTCACC CACCCATCCACCCATACTTCCATGCATCCATGCATCCATCCACCCACCCA CCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCCACC CATCCACCCATACTTCCATCCATCCATCCGTCCACCCACCCATCCACCCA TACTTCCATCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACC CATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635661	A A	AAGTATGG others(629): Show AAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAT GGAAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGG GTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGAT GGGTGGGTGGGTGGGTGGATGGATGCATGGATGCATGGAAGTATGGGTGG ATGGGTGGGTGAGTGGGTGGATGGAAGTATGGGTGGATGGGTGGGTGGAT GGGTGGATGGATGCATGTATGGAAGTATGGATGGATGAGTGGATGGGTGG GTGGGTGGATGCATAGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGT GGGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGG GTGAGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGAT GGGTGGGTGGGTAGGTGGATGGATGCATGGATTGAATTATGGGTGGATGG GTGGGTGGGTGGGTGGGTGGATGGATGGATGCATGGATGGAAGTATGGGT CAATGGGTGGATGGGTGGGTGGGTGGGGGGATGGATGGATGCATGGATGG AAGTATGGGTCAATGGGTGGATGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG01069.hp2 others(34): Show HG00099.hp2 HG00408.hp2 HG01069.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp2 HG01952.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0012 a0013 a0024 a0025 a0026	a0001c0001 a0001c0023 a0002c0003 others(10): Show a0001c0001 a0001c0023 a0002c0003 a0002c0004 a0002c0012 a0003c0005 a0006c0010 a0007c0014 a0012c0016 a0013c0027 a0024c0026 a0025c0039 a0026c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0023t0008 a0002c0003t0002 a0002c0003t0007 a0002c0003t0010 a0002c0003t0013 a0002c0004t0005 a0002c0012t0001 a0002c0012t0023 a0003c0005t0001 a0006c0010t0015 a0007c0014t0002 a0012c0016t0007 a0013c0027t0017 a0024c0026t0002 a0025c0039t0001 a0026c0028t0010	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0048 others(34): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0207 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0306 a0001c0001t0003g0051 a0001c0001t0006g0233 a0001c0023t0008g0377 a0002c0003t0002g0240 a0002c0003t0002g0285 a0002c0003t0007g0235 a0002c0003t0007g0239 a0002c0003t0007g0241 a0002c0003t0007g0368 a0002c0003t0010g0044 a0002c0003t0013g0237 a0002c0004t0005g0054 a0002c0004t0005g0055 a0002c0012t0001g0053 a0002c0012t0023g0046 a0003c0005t0001g0035 a0003c0005t0001g0037 a0003c0005t0001g0038 a0003c0005t0001g0152 a0003c0005t0001g0176 a0003c0005t0001g0177 a0006c0010t0015g0045 a0007c0014t0002g0373 a0012c0016t0007g0238 a0013c0027t0017g0009 a0024c0026t0002g0309 a0025c0039t0001g0041 a0026c0028t0010g0180	37	319	0.1160	636	c.59- others(651): Show c.59-3884_59-3883insCCCACCCACCCACCCATCCACCCATTGACC CATACTTCCATCCATGCATCCATCCATCCCCCCACCCACCCACCCATCCA CCCATTGACCCATACTTCCATCCATGCATCCATCCATCCACCCACCCACC CACCCACCCATCCACCCATAATTCAATCCATGCATCCATCCACCTACCCA CCCACCCATCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACC CACTCACCCACCCATCCACCCATCCACCCTTACTTCCATCCATGCATCCA TCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATCTATGCATC CACCCACCCACCCATCCACTCATCCATCCATACTTCCATACATGCATCCA TCCACCCATCCACCCACCCATCCACCCATACTTCCATCCACCCACTCACC CACCCATCCACCCATACTTCCATGCATCCATGCATCCATCCACCCACCCA CCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCCACC CATCCACCCATACTTCCATCCATCCATCCGTCCACCCACCCATCCACCCA TACTTCCATCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACC CATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635661	A A	AAGTATGG others(629): Show AAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAT GGAAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGG GTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGAT GGGTGGGTGGGTGGGTGGATGGATGCATGGATGCATGGAAGTATGGGTGG ATGGTGGGTGAGTGGGTGGATGGAAGTATGGGTGGATGGGTGGGTGGATG GGTGGATGGATGCATGTATGGAAGTATGGATGGATGAGTGGATGGGTGGG TGGGTGGATGCATAGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTG GGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGGGTGGATGGTGGGT GAGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGATGG GTGGGTGGGTAGGTGGATGGATGCATGGATTGAATTATGGGTGGATGGGT GGGTGGGTGGGTGGGTGGATGGATGGATGCATGGATGGAAGTATGGGTCA ATGGGTGGATGGGTGGGTGGGTGGGGGATGGATGGATGCATGGATGGAAG TATGGGTCAATGGGTGGATGGGTGGGTGGGTGGTGGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0008 a0001c0023t0008	a0001c0023t0008g0376 a0001c0023t0008g0376	1	283	0.0035	636	c.59- others(651): Show c.59-3884_59-3883insCCCACCACCCACCCACCCATCCACCCATTG ACCCATACTTCCATCCATGCATCCATCCATCCCCCACCCACCCACCCATC CACCCATTGACCCATACTTCCATCCATGCATCCATCCATCCACCCACCCA CCCACCCACCCATCCACCCATAATTCAATCCATGCATCCATCCACCTACC CACCCACCCATCCACCCATCCACCCATACTTCCATCCATCCATGCATCCA CCCACTCACCCACCATCCACCCATCCACCCTTACTTCCATCCATGCATCC ATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATCTATGCAT CCACCCACCCACCCATCCACTCATCCATCCATACTTCCATACATGCATCC ATCCACCCATCCACCCACCCATCCACCCATACTTCCATCCACCCACTCAC CCACCATCCACCCATACTTCCATGCATCCATGCATCCATCCACCCACCCA CCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCCACC CATCCACCCATACTTCCATCCATCCATCCGTCCACCCACCCATCCACCCA TACTTCCATCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACC CATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GOLGA3_chr12_132763914_132833869	132776464	A A	ATACACAG others(629): Show ATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCC CTGCTGCTCCCGCCTGTACCCAGCACCTCATACACAGGTACCTGCAGCAG CTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGCC CAGCGCCTCAGATACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCT CCTTCCTGCCCTGCTGCTCCCGCCTGTGTCCAGCACCTCATACACAGGTA CCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCC CGCCTGTGCCCAGCGCCTCAGATACAGGTACCTGCAGCAGCTGCTGTAGC CCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTACCCAGCACCTCA TACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTGCC CTGCTGCTCCCGCCTGTACCCAGCACCTCATACACAGGTACCTGCAGCAG CTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGCC CAGCGCCTCAGATACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCT CCTTCCTCCCTGCTGCTCCCGCCTGTACCCAGAGCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0061 a0015c0026t0061	a0015c0026t0061g0157 a0015c0026t0061g0157	1	306	0.0033	636	c.397 others(653): Show c.3978+169_3978+170insAGGCTCTGGGTACAGGCGGGAGCAGCAG GGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTATCT GAGGCGCTGGGCACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGG CTACAGCAGCTGCTGCAGGTACCTGTGTATGAGGTGCTGGGTACAGGCGG GAGCAGCAGGGCAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGT ACCTGTGTATGAGGTGCTGGGTACAGGCGGGAGCAGCAGGGCAGGAAGGA GCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTATCTGAGGCGCTGG GCACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGGCTACAGCAGC TGCTGCAGGTACCTGTGTATGAGGTGCTGGACACAGGCGGGAGCAGCAGG GCAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTATCT GAGGCGCTGGGCACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGG CTACAGCAGCTGCTGCAGGTACCTGTGTATGAGGTGCTGGGTACAGGCGG GAGCAGCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTA CCTGTGTA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23			chr12	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(629): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACGACAGGGACAGACACACACACACAGACACACACACAGAGA CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC ACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGACA GGGACAGACACAGACACACACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0067 a0002c0031t0001g0067	1	69	0.0145	636	c.488 others(651): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGTC TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT TTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCG GGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTG TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT GTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTT TGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTG TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGT GTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTC TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT TTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCACC others(629): Show TCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCATCACCACCATCACCACCATCACCACCATCA CCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCAC CACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCATCACCACCATCACCACCAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	231	0.0043	636	c.-25 others(653): Show c.-25+2359_-25+2360insCCACCATCACCATCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCATCACCACCATCACCACCATCACCACC ATCACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCA CCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(629): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCAC TACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCT CCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAAC CACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCATCA CCTCCACCACCACCACCACCACCACCACCATCTCCTTCAACACCACTACC CCCACCACTACCACCATCACCTCCACCACCACCACCATCTCCTTCAACAC CACTACCCCCACCACTACCACCATCACCTCCACCACCACCACCATCTCCT TCAACACCACTACCCCCACCACTACCACCATCACCTCCACCACCACCACC ATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCATCACCTC CACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCA TCACCATCACCTCCACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	225	0.0044	636	c.804 others(653): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGGGGGTAG TGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTG GGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTGG TGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAG TGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTG CTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGG TAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(629): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTAGAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGG ATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATG GATAGGTGGATGAATGGATGAATAGATGGATGGATGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA21309.hp2 HG02723.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0007 a0001c0001t0002 a0001c0005t0007	a0001c0001t0002g0178 a0001c0005t0007g0186 a0001c0001t0002g0178 a0001c0005t0007g0186	2	75	0.0267	636	c.199 others(653): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGC GGAGGGATGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGG ATGGATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(629): Show ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATATATTTATATATATATTTAT ATATATTTATATATATATATTTATATATATATATTTTTATATATATTTAT ATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTT ATGTATAGTTATATATAGTTATGTATAGTTATATATAGTTATATATATAG TTATATATAGTTATATATATATTTATATATATATTTTTATATATATATTT ATATATATATATTTTTATATATATATTTATATATATATATTTTTATATAT ATATTTATATATATTTATATATATATTTATATATATAAATATATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATATTTATATATTTATATATGTATTTATATATATTTATATATGTATTTAT ATATATTTATATATAATTATATGTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0004 a0003c0003t0002g0004	1	80	0.0125	636	c.125 others(653): Show c.125+9673_125+9674insTTATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT ATTTATATATATATTTATATATATTTATATATATATATTTATATATATAT ATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTAT ATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTAT ATATAGTTATATATATAGTTATATATAGTTATATATATATTTATATATAT ATTTTTATATATATATTTATATATATATATTTTTATATATATATTTATAT ATATATATTTTTATATATATATTTATATATATTTATATATATATTTATAT ATATAAATATATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATGTATTTATATAT ATTTATATATGTATTTATATATATTTATATATAATTATATGTATTTATAT ATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(629): Show ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTAC ACCCACCCACACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCAC ACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCACACTTACACCCACCCACACTTACACCCAC ACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0208 a0001c0001t0005g0208	1	260	0.0038	636	c.129 others(653): Show c.1290-969_1290-968insTACACCCACGCTTACATCTACCTCCACA CCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA CACCCGCGCTTACACCCACCCACACACCCACCCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTA CCTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCA CACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCA CACTTACACCCACACTTACATCTACCTCCACGCCCACACTCACACCCACC CACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACG CCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(629): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCCT CCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTC CTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCC TCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTC CCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCC TCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTC CCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCC CCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGC CCCTCCCCTCCCTTTCCCTCCTTCCCCTCCCCTCACCTCCCCTTCCCTCC CCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCT TGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTC CCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCT CCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0087 a0002c0002t0020g0087	1	8	0.1250	636	c.115 others(653): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCTC CTCCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTC CCCTCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCC CTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCC GCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCC TTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCT CCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCC CGCCCCTCCCCTCCCTTTCCCTCCTTCCCCTCCCCTCACCTCCCCTTCCC TCCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCT GCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCC CTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCC TCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTC CCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICALL2_chr7_1429359_1464470	1446228	G G	GGAGGGAG others(629): Show GGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAA AGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGG GGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGA GAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGA GGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA GAGGGAGAGGAGGGGGGAGGAGTGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGC GGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGA GGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAA GGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0007 a0008c0008t0001g0007	1	230	0.0043	636	c.641 others(651): Show c.641+484_641+485insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCT CTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTA CTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTC CTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCACTCCTCCCCCCTCCT CTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTC CCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCC TTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCC TCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTC TCCCTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MIER2_chr19_300573_349796	303875	T T	TCTCATCA others(629): Show TCTCATCAGACTCAATACACCAAAGCACATTCTCATCAGACACCTCAATA CACCAAAGCACATCCTCATCGGACTCAATACACCAAAGCACATCCTCATC AGACTCCTCAATACACCAAAGCACATCCTCATCAGACACCTCAATACACC AAAGCACACCCTCATCAGACACCTCAATACACCAAAGCACATTCTCATCA GACTCAATACACCAAAGCACATCCTCATCAGACACCTCAATACACCACAG CACATCCTCTTCAGACTCAATACACCAAAGCACATCCTCGTCAGACTCAA TACACCAAAGCACATCCTCATCAGACACCTCAATACACCACAGCACATCC TCATCGGACTCAATACACCAAAGCACATTCTCATCAGACACCTCAATACA CCAAAGCACATCCTCATCGGACTCAATACACCAAAGCACATCCTCATCAG ACTCCTCAATACACCAAAGCACATCCTCATCAGACACCTCAATACACCAA AGCACACCCTCATCAGACACCTCAATACACCAAAGCACATTCTCATCAGT CACCTCAATACACCAAAGCACATCCTCGTCAGACTCAATACACCAAAGCA CATCCTCATCAGACACCTCAATACACCACAGCACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00639.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	380	0.0053	636	c.28 others(647): Show c.2814_*2815insGATGTGCTGTGGTGTATTGAGGTGTCTGATGAGG ATGTGCTTTGGTGTATTGAGTCTGACGAGGATGTGCTTTGGTGTATTGAG GTGACTGATGAGAATGTGCTTTGGTGTATTGAGGTGTCTGATGAGGGTGT GCTTTGGTGTATTGAGGTGTCTGATGAGGATGTGCTTTGGTGTATTGAGG AGTCTGATGAGGATGTGCTTTGGTGTATTGAGTCCGATGAGGATGTGCTT TGGTGTATTGAGGTGTCTGATGAGAATGTGCTTTGGTGTATTGAGTCCGA TGAGGATGTGCTGTGGTGTATTGAGGTGTCTGATGAGGATGTGCTTTGGT GTATTGAGTCTGACGAGGATGTGCTTTGGTGTATTGAGTCTGAAGAGGAT GTGCTGTGGTGTATTGAGGTGTCTGATGAGGATGTGCTTTGGTGTATTGA GTCTGATGAGAATGTGCTTTGGTGTATTGAGGTGTCTGATGAGGGTGTGC TTTGGTGTATTGAGGTGTCTGATGAGGATGTGCTTTGGTGTATTGAGGAG TCTGATGAGGATGTGCTTTGGTGTATTGAGTCCGATGAGGATGTGCTTTG GTGTATTGAGGTGTCTGATGAGAATGTGCTTTGGTGTATTGAGTCTGATG AG	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		1697		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(629): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAG GGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGG GGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAG GGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGGGGAGGGGGGAGGGGGAGG GGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGGGGGAGGGGGAGGGGGAGG GAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGG AGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAG GGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGA GGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	8	0.1250	636	c.250 others(651): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCC CTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCC CTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTC CCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(629): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATATAAAA TCTTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	242	0.0041	636	c.-5+ others(651): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAA TATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATCTTA TTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAA AATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATA TATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAG ATTTTATATATATATAAAATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATA TATAAAAAATATATATCAAATATATATAAAATAAGATTTTATATATATAT AAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTA1_chr14_105414827_105475729	105442831	A A	ACTGTGTG others(629): Show ACTGTGTGCAGGAACACAGCACAACAGAACAGACCCCGAGTGTGACTGAG TCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGACT GAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTG ACTGAGTCCGCTGTGTGCAGGAACACAGCAGAACACAACAGACCCCGAGT GTGACTGAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCG AGTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGAACACAACAGACC CCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAG ACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGAACACAA CAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACACAACA GAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGA ACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAAC ACAACAGAACAGACCCCGAGTGTGACTGAGTCCACTGTGTGCAGGAACAC AGCACAACAGAACAGACCCCGAGTGTGACTGAGTCCG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0205 a0004c0003t0001g0205	1	5	0.2000	636	c.97- others(651): Show c.97-2567_97-2566insCAACAGAACAGACCCCGAGTGTGACTGAGT CCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGACTG AGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGA CTGAGTCCGCTGTGTGCAGGAACACAGCAGAACACAACAGACCCCGAGTG TGACTGAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGA GTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGAACACAACAGACCC CGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGA CCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGAACACAAC AGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACACAACAG AACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGAA CACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACA CAACAGAACAGACCCCGAGTGTGACTGAGTCCACTGTGTGCAGGAACACA GCACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAAC ACAGCA	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MUC4_chr3_195741771_195816929	195760526	A A	AGTGGAGG others(629): Show AGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCT GGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCA GCGCTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGA GTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGG GAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGC ACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAG TGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGG GAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGC GCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGT GGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGG GAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGC GCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01978.hp2 HG00323.hp2 HG01978.hp2	a0030 a0051 a0030 a0051	a0030c0096 a0051c0087 a0030c0096 a0051c0087	a0030c0096t0001 a0051c0087t0001 a0030c0096t0001 a0051c0087t0001	a0030c0096t0001g0017 a0051c0087t0001g0015 a0030c0096t0001g0017 a0051c0087t0001g0015	2	120	0.0167	636	c.148 others(655): Show c.14848+357_14848+358insCTCCATCCTAGTGCTGGACACCTTCC CAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCC CAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGC TGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCC CAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCAC TCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGC TGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCC AGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATC CATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTG GACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAG CCCCCTCCAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760553	G G	GCTAGGAT others(629): Show GCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATG GAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGA GGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAA GGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGTGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCATCCAGCGC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0038 a0001c0007t0002g0038	1	105	0.0095	636	c.148 others(655): Show c.14848+330_14848+331insTGCTGGACGCCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGATGCCTTCCCAGCCCCCTCCACTCCATCCTAG TGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCT TCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG CGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCT TCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG CGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGC GCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA TCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NEU4_chr2_241804193_241822413	241807418	C C	CCCCCTCA others(629): Show CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCT CCGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGC CACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCTCCCCCTCAA CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACC TTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	314	0.0032	636	c.-18 others(647): Show c.-1860_-1859insCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCA GGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCC CTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGA CCTCTGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCC CTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTC TGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCC ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1774		chr2	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATAGATAGACATATAGATGTATCT ATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGAT GTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	636	c.-26 others(647): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATAGATACATCTATATGTCTATCTA TA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	636	c.-26 others(647): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	636	c.-26 others(647): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(629): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA21309.hp2 HG02922.hp1 NA21309.hp2	a0010 a0016 a0010 a0016	a0010c0043 a0016c0025 a0010c0043 a0016c0025	a0010c0043t0024 a0016c0025t0005 a0010c0043t0024 a0016c0025t0005	a0010c0043t0024g0136 a0016c0025t0005g0033 a0010c0043t0024g0136 a0016c0025t0005g0033	2	82	0.0244	636	c.633 others(653): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(629): Show TGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCC TGACTGCCATCGCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCC ACCCTGACTGCCATCGCCACCCACAATGCCATCCCCACCCGCACTGCCAT CGCCACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCACACTG CCATCGCCACCCTGACTGCCATCGCCACCCACACTGCCATCCCCACCCGC ACTGCCATCGCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCCAC CCACACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCG CCACCCACACTGCCATCGCCACCCTGACTGCCATCGCCACCCACACTGCC ATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCTGAC TGCCATCGCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCCACCC GCACTGCCATCGCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCC ACCCACACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCAT CGCCACCCGCACTGCCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp1 HG02735.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0123 a0001c0001t0002g0029 a0001c0001t0002g0123	2	16	0.1250	636	c.122 others(651): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAG TGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATG GCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGC GATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGG TGGGGATGGCAGTGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTG TGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGC AGTGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGA TGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGCGATGGCAGTCAGGGTG GCGATGGCAGTGTGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAG TCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGCGATG GCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGC GATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(629): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGTC AGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02040.hp1 HG01975.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	162	0.0123	636	c.537 others(653): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(629): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGTC AGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	161	0.0062	636	c.537 others(653): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TAATTATA others(629): Show TAATTATATATAATTGTATATAATTATTTATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTATATATTATATAATTA TATAATTATATATTATTTATTATATAATATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATATATTATTTATTATATAATTATAT ATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATT ATATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATAAGTATATATTATTTATTACATAAGTATATATTATTTATT ACATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATA TAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATA TAATTGTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0033 a0001c0005t0001g0033	1	25	0.0400	636	c.862 others(653): Show c.862+3416_862+3417insATTATATATAATTGTATATAATTATTTA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATATTATATAATTATATAATTATATATTATTTATTATATAATAT ATAATTATATATTATTTATTATATAATTATATATTATTTATTATATATAT TATTTATTATATAATTATATATTATGTATTATATAATTATATAATTATAT ATTATGTATTATATAATTATATATTATGTATTATATAATTATATAATTAT ATATTATGTATTATATAATTATATATTATTTATTATATAATTATATAATT ATATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATAATTATATATTATTTATTATATAAGTATATATTATTTATTAC ATAAGTATATATTATTTATTACATAAGTATATATCACTTATTATATAATT GCATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATT GTATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATATAATT CTATATAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATAATTA others(629): Show TATAATTATATATAATTATATATAATTATATAATTATATATAATTGTATA TAATTATTTATTATATAATTATATATTATTTATTATATATTATATAATTA TATAATTATATATTATTTATTATATAATATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATATATTATTTATTATATAATTATAT ATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATT ATATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATAATTATATATTATTTATTACATAAATATATATTATTTATT ACATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATA TAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATA TAATTGTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp2 NA20300.hp1 HG00741.hp1 HG01261.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0005 a0001c0003t0001 a0001c0007t0001 a0001c0002t0005 a0001c0003t0001 a0001c0007t0001	a0001c0002t0005g0062 a0001c0003t0001g0010 a0001c0007t0001g0087 a0001c0002t0005g0062 a0001c0003t0001g0010 a0001c0007t0001g0087	3	27	0.1111	636	c.862 others(653): Show c.862+3417_862+3418insAATTATATATAATTATATATAATTATAT AATTATATATAATTGTATATAATTATTTATTATATAATTATATATTATTT ATTATATATTATATAATTATATAATTATATATTATTTATTATATAATATA TAATTATATATTATTTATTATATAATTATATATTATTTATTATATATATT ATTTATTATATAATTATATATTATGTATTATATAATTATATAATTATATA TTATGTATTATATAATTATATATTATGTATTATATAATTATATAATTATA TATTATGTATTATATAATTATATATTATTTATTATATAATTATATAATTA TATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAAT TATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATAATTATATATTATTTATTACA TAAATATATATTATTTATTACATAAGTATATATCACTTATTATATAATTG CATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTG TATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATATAATTC TATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG4B_chr5_87168_194966	100816	G G	GAAAAGCC others(629): Show GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTTAATCCATATAAAGCCCTGGACAAAGTCTGTAGGGGAGAGACT GTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAG ACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAACCCTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0031 a0031	a0031c0060 a0031c0060	a0031c0060t0020 a0031c0060t0020	a0031c0060t0020g0187 a0031c0060t0020g0187	1	158	0.0063	636	c.45+ others(651): Show c.45+8545_45+8546insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTA GGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGACAAAGTCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAG CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAACCCTGG AAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101564	T T	TGTAGGGG others(629): Show TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAA AAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTG GAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCT CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATAT AAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCA TATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAAT CCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTT AATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAG GTAAATCCATATAAAGCTCTGGAAAAAGCCCGTAGGGGAGAGACTGTTGT GAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0018 a0018	a0018c0077 a0018c0077	a0018c0077t0045 a0018c0077t0045	a0018c0077t0045g0180 a0018c0077t0045g0180	1	207	0.0048	636	c.45+ others(651): Show c.45+9312_45+9313insTAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATA TAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCTCTGGAAAAAGCCCGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCCCTGGAAAAAGCCCGTAGGGGAGAGACTGTTG TGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(629): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATGTGTATATATATATATGTATATATATATATATATTATATATGCA TATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCT GTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCA TGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0006 a0007c0006t0006	a0007c0006t0006g0305 a0007c0006t0006g0305	1	63	0.0159	636	c.98- others(651): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATGTG TATATATATATATGTATATATATATATATATTATATATGCATATTATGTT TAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAGACCC CATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTAGGAA CTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTCACTGTC CAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1CA_chr11_67393183_67406858	67403714	G G	GGAACTGG others(629): Show GGAACTGGCTTCCTGCTCTGGGACTCAGTTTCCCCCGTGCAGCAGGGGCT GGGCAAGTCCAAGGAGAGGTGGGGGTACCCACCTGTGACATGAAGGCCTC CTCCTGCAGCTGCGCGGGGGGGATGGCTCGAAGGGCTCCCAGTGTCTCCA GGAGGCCAGGGCAGGCCCCTCGCTGCTCTGCAGTGCCCAGCGCCAGGCGC ACCAGTGTCAGCCCCACACGGAACAGTACTCTGGCACCTGCAGGCCGGGG GCTTATTCACTGGGAGGCCGGCCCTGCCCCTCCACAGTTCTGCACCCAAA CCTGCCCTCAGCCATATGCCTCCCACTCTCCTGCAGCTCTGCCCTCCCCG GTTCAGGAACAATGACAGAGGGTGGAGTTGCATTTCGGGTAACACAGGCC GCTGTACTGGCCAAGTTAGCCTCAAGAGCCACAGATGCTTTGGGGAAGAG TTACTATCTTGTGAATTTGGTTACTGTCGCCTCCCATCCCCACCCCCGCC AAAATGAAGGTCTTGATCACTTGATGCTCAGATGCCATCCATATCTGGAG CCAGCAAGCACCCAGCAGGTGCCTGTGGGCTCCGGGGAGGAGCACCTCCT ACCCTCCCTGAGCCAGTCAGGCCTCCATGTGCTATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	376	0.0027	636	c.-19 others(647): Show c.-1933_-1932insTCATAGCACATGGAGGCCTGACTGGCTCAGGGAG GGTAGGAGGTGCTCCTCCCCGGAGCCCACAGGCACCTGCTGGGTGCTTGC TGGCTCCAGATATGGATGGCATCTGAGCATCAAGTGATCAAGACCTTCAT TTTGGCGGGGGTGGGGATGGGAGGCGACAGTAACCAAATTCACAAGATAG TAACTCTTCCCCAAAGCATCTGTGGCTCTTGAGGCTAACTTGGCCAGTAC AGCGGCCTGTGTTACCCGAAATGCAACTCCACCCTCTGTCATTGTTCCTG AACCGGGGAGGGCAGAGCTGCAGGAGAGTGGGAGGCATATGGCTGAGGGC AGGTTTGGGTGCAGAACTGTGGAGGGGCAGGGCCGGCCTCCCAGTGAATA AGCCCCCGGCCTGCAGGTGCCAGAGTACTGTTCCGTGTGGGGCTGACACT GGTGCGCCTGGCGCTGGGCACTGCAGAGCAGCGAGGGGCCTGCCCTGGCC TCCTGGAGACACTGGGAGCCCTTCGAGCCATCCCCCCCGCGCAGCTGCAG GAGGAGGCCTTCATGTCACAGGTGGGTACCCCCACCTCTCCTTGGACTTG CCCAGCCCCTGCTGCACGGGGGAAACTGAGTCCCAGAGCAGGAAGCCAGT TC	PPP1CA	ENSG00000172531.16	transcript	ENST00000376745.9	protein_coding		1857		chr11	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(629): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTAATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0128 a0002c0004t0004g0128	1	210	0.0048	636	c.227 others(653): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC TTGTAATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(629): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01070.hp2 others(14): Show HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01496.hp1 HG02015.hp2 HG02148.hp1 HG02280.hp1 HG02602.hp2 HG03490.hp2 HG03492.hp1 HG03834.hp2 HG04184.hp1 NA18983.hp1 NA18990.hp1 NA19012.hp1 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0004 a0002c0004t0009 a0002c0004t0013 others(3): Show a0002c0004t0004 a0002c0004t0009 a0002c0004t0013 a0002c0007t0004 a0002c0007t0007 a0002c0007t0009	a0002c0004t0004g0122 a0002c0004t0004g0130 a0002c0004t0004g0149 others(14): Show a0002c0004t0004g0122 a0002c0004t0004g0130 a0002c0004t0004g0149 a0002c0004t0009g0180 a0002c0004t0013g0099 a0002c0004t0013g0100 a0002c0004t0013g0131 a0002c0007t0004g0053 a0002c0007t0004g0081 a0002c0007t0004g0136 a0002c0007t0004g0137 a0002c0007t0004g0138 a0002c0007t0007g0134 a0002c0007t0007g0135 a0002c0007t0007g0139 a0002c0007t0009g0156 a0002c0007t0009g0227	17	226	0.0752	636	c.227 others(653): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(629): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0299 a0001c0008t0003g0299	1	210	0.0048	636	c.227 others(653): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTT CTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PTPRH_chr19_55176247_55214501	55208082	A A	AGGGGGCT others(629): Show AGGGGGCTGGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGA GTCTGAGGGAGGAGGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGT AGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGT CTGGACTCCTGGGTCCTGAGGGAGGAGGGGGCCTGGGGGTCTCGACCTCT GGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGG AGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCC TGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCTCGACCTCTGG TTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG GGGCTGGGGTCTGGACTCCTGGGTCCTGAGGGAGTAGGGGCTGGGGGTCC TGGATTCCTGGGTCCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGGTCTCGACCTCTGGTTTGAGGGAGGAG AGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0303 a0007c0012t0001g0303	1	376	0.0027	636	c.52- others(649): Show c.52-884_52-883insCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCC AACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGGACCCAGGA ATCCAGGACCCCCAGCCCCTACTCCCTCAGGACCCAGGAGTCCAGACCCC AGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCC TCAAACCAGAGGTCGAGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGC CCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAG CCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTC AAACCAGAGGTCGAGACCCCCAGGCCCCCTCCTCCCTCAGGACCCAGGAG TCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCCTCCTCCCT CAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTC GAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCCAGC CCCC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(629): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	280	0.0036	636	c.-75 others(655): Show c.-758+6953_-758+6954insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679038	T T	TATAAATA others(629): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	235	0.0043	636	c.-75 others(655): Show c.-758+6791_-758+6792insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar

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