Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CFAP61_chr20_20047532_20365698	20355986	C C	CGTGGTCA others(430): Show CGTGGTCACACTGTGAGGGGAGGTGGTCACACTGTGAGAGGGGAGGTGAC CACACAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGCAG AGATGGTCACACTGTGAGGGGAGGGGGGTCACACTGTGAGGGGGAAGGTG GTCACACTGTGAGAGGGGAGAAGGTCACACTGAGGGGAGGTAGTGACACT ATGAGCAGAGATGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTAGTGACACTGTGAGCAGAGATGGTCACACTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTAGTCACACTGTGAGGGGAGGTGGTCACACTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGCAGAGATGGTCA CACTGTAAGGGGAGGTGATCACACTGTGAGGGGACGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0002 a0010c0020t0002	a0010c0020t0002g0123 a0010c0020t0002g0123	1	236	0.0042	437	c.351 others(456): Show c.3514-4222_3514-4221insGGTCACACTGTGAGGGGAGGTGGTCA CACTGTGAGAGGGGAGGTGACCACACAGGGGAGGTGGTCACACTGAGGGG AGGTAGTGACACTGTGAGCAGAGATGGTCACACTGTGAGGGGAGGGGGGT CACACTGTGAGGGGGAAGGTGGTCACACTGTGAGAGGGGAGAAGGTCACA CTGAGGGGAGGTAGTGACACTATGAGCAGAGATGGTCACACTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTAGTGACACTGTGAGCAGAGATGGTCAC ACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTAGTCACACTGTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTAGTGA CACTGTGAGCAGAGATGGTCACACTGTAAGGGGAGGTGATCACACTGTGA GGGGACGTGGT		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(430): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCCCCCCACCCACCCATCCGTCCATCCATCCCCCCACCCACCCATC CATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACC CATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	348	0.0029	437	c.13 others(448): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCCCCCCACCCACCCATCCGTCCATCCATCC CCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCC ATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCC CCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(430): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCCCCCCACCCACCCGTCCGTCCACCCATCCGTCCACCCACCCATC CATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACC CATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	348	0.0029	437	c.13 others(448): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCACCCATCC GTCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCC ATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCC CCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(430): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATC CATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACC CATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00558.hp1 others(82): Show HG00099.hp1 HG00140.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02071.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA19009.hp1 NA19043.hp2 NA19057.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0008 a0001c0009 others(6): Show a0001c0001 a0001c0008 a0001c0009 a0001c0025 a0001c0028 a0001c0029 a0002c0010 a0004c0011 a0011c0021	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 others(6): Show a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0025t0001 a0001c0028t0001 a0001c0029t0001 a0002c0010t0001 a0004c0011t0001 a0011c0021t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(82): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0008t0001g0009 a0001c0009t0001g0061 a0001c0025t0001g0276 a0001c0028t0001g0164 a0001c0029t0001g0270 a0002c0010t0001g0245 a0004c0011t0001g0077 a0004c0011t0001g0092 a0011c0021t0001g0224	85	348	0.2443	437	c.13 others(448): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCC CCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCC ATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCC CCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(430): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATTCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATC CATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACC CATCCGTCCACTCACCCATCTGTCCACCCATCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0055 a0001c0001t0008g0055	1	348	0.0029	437	c.13 others(448): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATTCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCC CCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCC ATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATCCCC CCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(430): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCATCCACCCATTCCCCCACCCACCCATCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATC CATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACC CATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG02300.hp2 others(10): Show HG00323.hp2 HG00733.hp2 HG02300.hp2 HG02735.hp1 NA18962.hp2 NA18966.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19066.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0008 a0001c0001t0001 a0002c0010t0008	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0050 others(10): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0095 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0154 a0002c0010t0008g0127	13	348	0.0374	437	c.13 others(448): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATTCCCCCACCC ACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCC CCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCC ATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCC CCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					693		chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1314319	A A	ACACAGCA others(430): Show ACACAGCATCTGCCCAACCACTCTGTGCCTGCCCAACCACACTGCACCTG CCTAACCGCACTGCACCTGCCCAACCGCACTGCACCTGCCCAACCCCACT GCGCCTGCCCAACCCCACTGCATCTGCCTAACCGTACTGCACCTGCCCAA CCGCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCACC TACCCAACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCCAATCCCA CTGCACCTGCCCAATCCCACTGCACCTGCCCAACCCCACTGTGCCTGCCC AACCGCACTGCACCTGCCCAATCCCACTGCACCTGCCCAACCGCACTGAA CCTGCTCAACCCCACTTCACCTGCCCAACCGCACTGCACCTGCCTAACCG CACTGCACCTGCCCAACCGCACTGCACCTGCCCAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0141 a0002c0003t0002g0141	1	159	0.0063	437	c.48 others(448): Show c.4840_*4841insCACAGCATCTGCCCAACCACTCTGTGCCTGCCCA ACCACACTGCACCTGCCTAACCGCACTGCACCTGCCCAACCGCACTGCAC CTGCCCAACCCCACTGCGCCTGCCCAACCCCACTGCATCTGCCTAACCGT ACTGCACCTGCCCAACCGCACTGCACTTGCCCAATTGCACTGCACCTGCC CAACCCCAATGCACCTACCCAACCCCACTGTGCCTGCCCAACCGCACTGC ACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAACC CCACTGTGCCTGCCCAACCGCACTGCACCTGCCCAATCCCACTGCACCTG CCCAACCGCACTGAACCTGCTCAACCCCACTTCACCTGCCCAACCGCACT GCACCTGCCTAACCGCACTGCACCTGCCCAACCGCACTGCACCTGCCCAA CCG		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					4385		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314870	G G	GCACTGCA others(430): Show GCACTGCACCTGCCCAACCGCACTGCACCTGCCCAACCACACTGAACCTG CTCAACCCCACTTCACCTGCCCAACCGCACTGCACTTGCCCAACCCCTCT GTGCCTGCCCAACCCCACTGCACTTGCCCAATTGCACTGCACCTGCCCAA CCCCAATGCACCTACCCAACCCCACTGTGCCTGCCCAACCGCACTGCACC TGCCCAACCGCACTGCACCTGCCCAACCACACTGAACCTGCTCAACCCCA CTTCACCTGCCCAACCGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCC AACCCCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCA CCTACCCAACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCCAATCC CACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0082 a0001c0002t0008g0082	1	159	0.0063	437	c.53 others(448): Show c.5391_*5392insCACTGCACCTGCCCAACCGCACTGCACCTGCCCA ACCACACTGAACCTGCTCAACCCCACTTCACCTGCCCAACCGCACTGCAC TTGCCCAACCCCTCTGTGCCTGCCCAACCCCACTGCACTTGCCCAATTGC ACTGCACCTGCCCAACCCCAATGCACCTACCCAACCCCACTGTGCCTGCC CAACCGCACTGCACCTGCCCAACCGCACTGCACCTGCCCAACCACACTGA ACCTGCTCAACCCCACTTCACCTGCCCAACCGCACTGCACTTGCCCAACC CCTCTGTGCCTGCCCAACCCCACTGCACTTGCCCAATTGCACTGCACCTG CCCAACCCCAATGCACCTACCCAACCCCACTGTGCCTGCCCAACCGCACT GCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAA TCC		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					4936		chrX	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(430): Show GCTATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACCACTACCACTACTATAACCATCACCACCATTACTA CTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTAT AACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACC AACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCAC TACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCA CCACCACCATCACTATAATCATCACCATCATCACCACTATAACCACCACC ACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0040 a0001c0011t0003g0040	1	230	0.0044	437	c.724 others(456): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTGATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTTATAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(430): Show GCTATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACTA CTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTAT AACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACC AACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCAC TACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCA CCACCACCATCACTATAATCATCACCACCATCACCACTATAACCACCACC ACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0012 a0003c0015t0012	a0003c0015t0012g0109 a0003c0015t0012g0109	1	230	0.0044	437	c.724 others(456): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTTATAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(430): Show GCTATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACTA CTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTAT AACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACC AACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCAC TACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCA CCACCACCATCACTATAATCATCACCATCATCACCACTATAACCACCACC ACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp2 HG01168.hp2 others(4): Show HG00558.hp2 HG01099.hp2 HG01168.hp2 HG02071.hp2 HG02922.hp2 HG03669.hp1 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0013 others(1): Show a0001c0002 a0001c0003 a0001c0013 a0001c0017	a0001c0002t0004 a0001c0002t0006 a0001c0002t0016 others(4): Show a0001c0002t0004 a0001c0002t0006 a0001c0002t0016 a0001c0003t0001 a0001c0003t0003 a0001c0013t0013 a0001c0017t0003	a0001c0002t0004g0102 a0001c0002t0006g0130 a0001c0002t0016g0201 others(4): Show a0001c0002t0004g0102 a0001c0002t0006g0130 a0001c0002t0016g0201 a0001c0003t0001g0101 a0001c0003t0003g0093 a0001c0013t0013g0088 a0001c0017t0003g0161	7	230	0.0304	437	c.724 others(456): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTTATAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(430): Show GCTATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACTA CTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTAT AACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACC AACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCAC TACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCA CCACCACCATCACTATAATCATCACCATCATCACCACTATAACCACCACT ACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02572.hp1 others(4): Show HG01109.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp1 HG02965.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0012 a0001c0001t0013 a0001c0001t0038 others(4): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0038 a0001c0002t0041 a0001c0003t0006 a0001c0003t0013 a0001c0004t0048	a0001c0001t0012g0103 a0001c0001t0013g0178 a0001c0001t0038g0044 others(4): Show a0001c0001t0012g0103 a0001c0001t0013g0178 a0001c0001t0038g0044 a0001c0002t0041g0122 a0001c0003t0006g0180 a0001c0003t0013g0108 a0001c0004t0048g0217	7	230	0.0304	437	c.724 others(456): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTTATAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(430): Show GCTATAACCACCACCACCATTATAACCATCACCACCACCACTATAACCAC CATCATCATCACCACTACTACCACTACTATAACCATTACCACCATTACTA CTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTATA ACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTAT AACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACC AACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCAC TACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACCA CCACCACCATCACTATAATCATCACCATCATCACCACTATAACCACCACC ACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0148 a0001c0005t0001g0148	1	230	0.0044	437	c.724 others(456): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTAGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTTATAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DDX51_chr12_132131594_132149319	132149004	C C	CACACCAC others(430): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	334	0.0030	437	c.-47 others(448): Show c.-4709_-4708insTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTG TGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGG CGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCG AGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGA TTAGGGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGG GTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGG TGT		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4686		chr12	TogoVar
DIDO1_chr20_62872743_62931505	62875302	C C	CCACCCGC others(430): Show CCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCTCACCCTC ACCCCCACCCCCACCCCCACCCCACCCCCACCCCCACCCTCACCCCCACC CCCACCCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCC CCACCCTCACCCGCACCCTCACCCCCCACCCTCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0024 a0024	a0024c0032 a0024c0032	a0024c0032t0001 a0024c0032t0001	a0024c0032t0001g0086 a0024c0032t0001g0086	1	320	0.0031	437	c.39 others(448): Show c.3930_*3931insAGGGTGAGGGTGGGGGGTGAGGGTGCGGGTGAGG GTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGG GGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGG TGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGG GGGTGAGGGTGAGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGG GTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2440		chr20	TogoVar
DLGAP2_chr8_732628_1713476	1470995	C C	CTTTCCCG others(430): Show CTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCATCCTTTCCCGACCC CTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGGCTTTC CCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCA GCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGGCTTTCCCGAC CCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCATCCTT TCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTC CAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCG ACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTGCAGCC TTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	437	c.107 others(456): Show c.107-30354_107-30353insGCTTTCCCGACCCCTCCATCCTTTCC CGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAG GCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACC CCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGGCTTT CCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGGCTTTCCCGACCCCTCC ATCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGA CCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCT TTCCCGACCCCTCCAGGCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCT GCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCC GACCCCTCCAG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(430): Show ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTGTATATATATAGTATATATATAGTGTATATATATAGTATATA TATAGTGTATATATAGTATATATAGTATATATGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATATAGTATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	316	0.0032	437	c.355 others(456): Show c.355-25620_355-25619insCTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTGTATATATATAGTATATATATAGTGTA TATATATAGTATATATATAGTGTATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(430): Show TATATATAAGTACATATAAATATATATACATAAATATATAAATATATATA AATATAAAAATATATAAATACATAATATATAAATATAAAATATATATAAT ATATAAAATATATTAAAAATATAAAAATATATATAAAAATATATATAAAT ATATAAAAATATATAAAAAATATATACACATATAAATATATATAAAAATA TATAAATATATATAAAAATATATAAATATATATTATATATAAATATATAA TATATAAATATATATAAATATATAATATATAAATATATAATATATAAATA TATATAAATATATAATATATAAATATATATAATATATATAATATATAAAT ATATACAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATATAATATATAAATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19011.hp2 HG02602.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0195 a0001c0001t0003g0196	2	344	0.0058	437	c.617 others(454): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT ATATATATTTATATATATTTATATATTGTATATATTTATATATATTTATA TATTGTATATATTTATATATTATATATATTATATATATTTATATATTATA TATTTATATATATTTATATATTATATATTTATATATTATATATTTATATA TATTTATATATTATATATTTATATATAATATATATTTATATATTTTTATA TATATTTATATATTTTTATATATATTTATATGTGTATATATTTTTTATAT ATTTTTATATATTTATATATATTTTTATATATATTTTTATATTTTTAATA TATTTTATATATTATATATATTTTATATTTATATATTATGTATTTATATA TTTTTATATTTATATATATTTATATATTTATGTATATATATTTATATGTA CTTATATAT		FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10						chr17	TogoVar
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(430): Show TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATCATATATGATATATATGA TATATATCATATCATATATGATATATATGATATATATCATATCATATATG ATATATATGATATATATGATATATCATATCATATCATATATGATATATAT GATATATATGATATATCATATCATATATGATATATATGATATATATGATA TATCATATCATATCATATATGATATATATGATATATATGATATATCATAT ATATCATATATGATATATATGATATATATGATATATCATATATATCATAT ATGATATATATGATATATATGATATATCATATCATATC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	46	0.0217	437	c.-11 others(458): Show c.-110-39194_-110-39193insGATATGATATGATATATCATATAT ATCATATATATCATATATGATATATATGATATATCATATATATCATATAT ATCATATATGATATATATGATATATCATATATATCATATATATCATATAT GATATGATATGATATATCATATATATCATATATATCATATATGATATGAT ATATCATATATATCATATATATCATATATGATATGATATGATATATCATA TATATCATATATATCATATATGATATGATATATATCATATATATCATATA TGATATGATATATATCATATATATCATATATGATATATATCATATATGAT ATATATCATATATATCATATATGATATATATCATATATATCATATATGAT ATATATCATATATATCATATATGATATATATCATATATATCATATATGAT ATATATCATATAT		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9						chr3	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGAGGGG others(430): Show CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCT GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCTG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGACACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0240 a0001c0001t0006g0240	1	308	0.0033	437	c.157 others(452): Show c.1576+54_1576+55insGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTAGGCTGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTAGGCTGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGACACCACAGGGAG GTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGG		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8						chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586400	G G	GCGGAGGG others(430): Show GCGGAGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGCGAAGTCAAAGGTGGGCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA ATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0017 a0017	a0017c0013 a0017c0013	a0017c0013t0018 a0017c0013t0018	a0017c0013t0018g0292 a0017c0013t0018g0292	1	308	0.0033	437	c.157 others(454): Show c.1576+203_1576+204insAGGGGGAATGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGCG AAGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCCGG		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
GNA14_chr9_77418079_77653322	77452609	A A	ATGGAAGT others(430): Show ATGGAAGTGTGTCCGTGGTGTGTGTGGAGGTATATGTGTGTGTGCTGTGC ATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTTATGTGTAT GTGTATGGTGTGTGTGTGGTGTGTGTATGTGTGTGGTGTATGTGTGTGGT GCATGTGTGTGGTTTGTGTCTGTGTGTGTGGCGTGTATGTGTATGTGTGT GGTGTGTTTGTGGTATGTGTGTATGTGTATGGTGTGTATGTGTATGTGTG TGGTGTGTCTGTGTGGTGTGTATGTGTGTGGTGTGTATGTGTGTGGTGTG TATGTGTGTGTGGTATGTGTGTACGTGTGGTGTGTATGTGTGTACGTGTG GTGTGTATGTGTGTGGTGTGTGTGTAGTATCTGTGTATGTGTGGTGTGGT GTGTGGTATGTGTGTAGTGTGTTTATGTATGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03831.hp1 HG02683.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0113 a0001c0001t0005g0191 a0001c0001t0003g0113 a0001c0001t0005g0191	2	240	0.0083	437	c.310 others(456): Show c.310-18088_310-18087insCCCCACACATACATAAACACACTACA CACATACCACACACCACACCACACATACACAGATACTACACACACACCAC ACACATACACACCACACGTACACACATACACACCACACGTACACACATAC CACACACACATACACACCACACACATACACACCACACACATACACACCAC ACAGACACACCACACACATACACATACACACCATACACATACACACATAC CACAAACACACCACACACATACACATACACGCCACACACACAGACACAAA CCACACACATGCACCACACACATACACCACACACATACACACACCACACA CACACCATACACATACACATAAGCACACCACACACACATACACACCACAG ACATACACATATGCACAGCACACACACATATACCTCCACACACACCACGG ACACACTTCCA		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6						chr9	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGCTCC others(430): Show CCTGCTCCCGCATCTTCTCCTCCTGGCCCCCGCATCTTCTCCTCCTGTCC CCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCCGCA TCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCC CCCACATCTTCTTCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01099.hp2 HG00738.hp2 HG01099.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0015 a0011c0028t0016 a0011c0028t0015 a0011c0028t0016	a0011c0028t0015g0046 a0011c0028t0016g0047 a0011c0028t0015g0046 a0011c0028t0016g0047	2	396	0.0051	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGAAGAAGATGTG GGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAA GATGCGGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGACAGGAGGAGAAGATGCGGGGGCCAGGAGGAGAAGATGCGGGAGCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG01070.hp1 HG01071.hp1 HG01106.hp1 others(7): Show HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp1 HG01258.hp1 HG01981.hp2 HG02698.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 others(2): Show a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092	10	396	0.0253	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCACCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	NA18988.hp2 NA19058.hp2 NA19070.hp2 NA18988.hp2 NA19058.hp2 NA19070.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0003 a0001c0019t0001 a0001c0019t0003	a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0019t0001g0055 a0001c0019t0003g0035	3	396	0.0076	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGTGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGATCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0101 a0001c0065t0001g0101	1	396	0.0025	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGATCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(10): Show a0001 a0005 a0006 a0020 a0022 a0023 a0024 a0026 a0035 a0037 a0038 a0039 a0040	a0001c0001 a0001c0007 a0001c0018 others(20): Show a0001c0001 a0001c0007 a0001c0018 a0001c0029 a0001c0033 a0001c0048 a0001c0058 a0001c0059 a0001c0060 a0001c0067 a0005c0006 a0006c0009 a0006c0072 a0020c0046 a0022c0073 a0023c0076 a0024c0047 a0026c0071 a0035c0035 a0037c0045 a0038c0079 a0039c0077 a0040c0074	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0007t0001 a0001c0007t0009 a0001c0018t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0067t0001 a0005c0006t0001 a0005c0006t0003 a0005c0006t0004 a0006c0009t0001 a0006c0072t0001 a0020c0046t0001 a0022c0073t0001 a0023c0076t0001 a0024c0047t0004 a0026c0071t0001 a0035c0035t0004 a0037c0045t0004 a0038c0079t0001 a0039c0077t0001 a0040c0074t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0007t0001g0007 a0001c0007t0009g0036 a0001c0018t0001g0022 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0067t0001g0102 a0005c0006t0001g0010 a0005c0006t0003g0020 a0005c0006t0004g0068 a0006c0009t0001g0011 a0006c0009t0001g0037 a0006c0072t0001g0054 a0020c0046t0001g0093 a0022c0073t0001g0104 a0023c0076t0001g0110 a0024c0047t0004g0049 a0026c0071t0001g0103 a0035c0035t0004g0116 a0037c0045t0004g0062 a0038c0079t0001g0137 a0039c0077t0001g0111 a0040c0074t0001g0085	216	396	0.5455	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCTGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0025 a0001c0052t0025	a0001c0052t0025g0069 a0001c0052t0025g0069	1	396	0.0025	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCAGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG01975.hp2 HG01978.hp1 others(2): Show HG00280.hp1 HG01975.hp2 HG01978.hp1 HG03710.hp1 HG03831.hp2	a0001 a0019 a0001 a0019	a0001c0013 a0019c0051 a0001c0013 a0019c0051	a0001c0013t0001 a0001c0013t0003 a0019c0051t0001 a0001c0013t0001 a0001c0013t0003 a0019c0051t0001	a0001c0013t0001g0021 a0001c0013t0003g0095 a0019c0051t0001g0067 a0001c0013t0001g0021 a0001c0013t0003g0095 a0019c0051t0001g0067	5	396	0.0126	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTTCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG01069.hp2 HG01071.hp2 others(1): Show HG00099.hp2 HG01069.hp2 HG01071.hp2 HG01993.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0013 a0001c0014t0001g0013	4	396	0.0101	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGAAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGTCCC others(430): Show CCTGTCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG02129.hp2 HG02129.hp2	a0025 a0025	a0025c0049 a0025c0049	a0025c0049t0001 a0025c0049t0001	a0025c0049t0001g0094 a0025c0049t0001g0094	1	396	0.0025	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGACA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440106	G G	GCATCTTC others(430): Show GCATCTTCTCCTCCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCT TCTCCTCCTGCCCCTCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCT CCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCC CGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCT TCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCC TGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCCCG CATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCCATATCTTCT CCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTCTGTTCCGGT AGCCTCTGCTGCTCCCACATCTTCTCTTCCTGCTCCCA	frameshift_variant frameshift_variant	HIGH	HG02257.hp2 HG02257.hp2	a0028 a0028	a0028c0030 a0028c0030	a0028c0030t0019 a0028c0030t0019	a0028c0030t0019g0060 a0028c0030t0019g0060	1	396	0.0025	437	c.236 others(446): Show c.2368_2369insTGGGAGCAGGAAGAGAAGATGTGGGAGCAGCAGAGG CTACCGGAACAGAAGGAGAAGCTGTGGGAACACGAGAAGATGCAGGAGCA GGAGAAGATATGGGAGCAGGAGGAGAAGATGCGGGACCAGGAGGAGAAGA TGCGGGGCCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGG CAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGA GAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATG CGGGGCCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGGCA GGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGAGGGGCAGGAGGA GAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCAGGAGGAGAAGAT G	p.Ala others(5): Show p.Ala790fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2430/3499	2368/2730	790/909			chr15	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(430): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	188	0.0053	437	c.109 others(458): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(430): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCT CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCT TGCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCC TCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCAT CCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCC CCCTCCCCCTTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCC CCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTT CCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0112 a0001c0002t0003g0112	1	290	0.0035	437	c.972 others(452): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCC CTCCCCTCCTTGCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTA CCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCC CCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTC CCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCCTCCTTCCCCT TTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCC CTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCC CCTTCCC		GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
IFNAR1_chr21_33319970_33364864	33322831	T T	TGGAATAT others(430): Show TGGAATATATATACATGGAATATATATATGGAATATATATACATGGAATA TATATATGGAATATATATACATGGAATATATATATGGAATATATATACAT GGAATATATATATATGGAATATATACATGGAATATATATATGGAATATAT ACATATGGAATATATATATGGAATATATACATATGGAATATATATATGGA ATATATACATATGGAATATATATATGGAATATATACATATGGAATATATA TATGGAATATATACATATGGAATATATATATGGAATATATACATATGGAA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATAT ATACGTATGGAATATATATATGGAATATATACGTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	323	0.0031	437	c.-22 others(448): Show c.-2225_-2224insGGAATATATATACATGGAATATATATATGGAATA TATATACATGGAATATATATATGGAATATATATACATGGAATATATATAT GGAATATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATATATGGAATATATACATATGGAATATATATATGGAATATATACATATG GAATATATATATGGAATATATACATATGGAATATATATATGGAATATATA CATATGGAATATATATATGGAATATATACATATGGAATATATATATGGAA TATATACATATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTA TGG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2138		chr21	TogoVar
IGF2R_chr6_159964082_160116504	160071295	C C	CGAGGCCC others(430): Show CGAGGCCCCTGTGCCCAGGGCCCAGGAGGCTGGGAGGGAAGGGTGGGGGT GTGTCGAGGCCCCTGTGCCCCAGACCCAGGAGGCTGGGAGGGAAGGGTGG GGGTGTGTCGAGGCCCCTGTGCCCCAGACCCAGGAGGCTGGGAGGGAAGG GTGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCCGGTAGGCTGGGAGGG AAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCCGGGAGGCTGG GAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCTGGGAG GCTGGGAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCT GGGAGGCTGGGAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAG GGCCCGGGAGGCTGGGAGGGAAGGGTCGGGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0044 a0001c0004t0044	a0001c0004t0044g0153 a0001c0004t0044g0153	1	310	0.0032	437	c.444 others(454): Show c.4444-594_4444-593insCAGGAGGCTGGGAGGGAAGGGTGGGGGT GTGTCGAGGCCCCTGTGCCCCAGACCCAGGAGGCTGGGAGGGAAGGGTGG GGGTGTGTCGAGGCCCCTGTGCCCCAGACCCAGGAGGCTGGGAGGGAAGG GTGGGGGTGTGTCGAGGCCCCTGTGCCCAGGGCCCGGTAGGCTGGGAGGG AAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCCGGGAGGCTGG GAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCTGGGAG GCTGGGAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAGGGCCT GGGAGGCTGGGAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTGCCCAG GGCCCGGGAGGCTGGGAGGGAAGGGTCGGGGGTGTGTGGAGGCCCCTGTG CCCAGGGCC		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
INCENP_chr11_62119011_62158169	62143052	G G	GCCCACAC others(430): Show GCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGC TTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACGGAAGAGCAACACA CAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGA CTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAG AGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGCTCCTCCTCT GAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGGGAC AGACGGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCACAGC TCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGG CAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	358	0.0028	437	c.160 others(456): Show c.1605+1543_1605+1544insCACACTTTTGGGATCACAGCTCCTCC TCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCCTGGCAGGGG GACAGACGGAAGAGCAACACACAGGGTTTGGCCCACACTTTTGGGATCAC AGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCCAGGGTCGCC TGGCAGGGGGACAGACAGAAGAGCAACACACAGGGTTTGGCCCACACTTT TGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGCTTTCTCTGTCC AGGGTCGCCTGGCAGGGGGACAGACGGAAGAGCAACACACAGGGTTTGGC CCACACTTTTGGGATCACAGCTCCTCCTCTGAGTTTTGACTTGGCAGCTT TCTCTGTCCAGGGTCGCCTGGCAGGGGGACAGACAGAAGAGCAACACACA GGGTTTGGCCC		INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
ISM1_chr20_13216274_13305651	13221261	C C	CCTCCTCC others(430): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0158 a0001c0001t0010g0158	1	396	0.0025	437	c.-51 others(446): Show c.-516_-515insCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC T		ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding					12		chr20	TogoVar
JAKMIP1_chr4_6021199_6205549	6067580	C C	CACTCAAG others(430): Show CACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCA CTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGT TCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTTC ACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCAC TCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTC AAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCACTCAA GCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTTACTCAAGC TCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTC TTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG03195.hp2 others(1): Show HG02451.hp1 HG03041.hp1 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0003g0216	4	233	0.0172	437	c.130 others(456): Show c.1303-2573_1303-2572insAAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGT GTGTGCGGAAGAGCTTGAGTAAACCTGGAGCTCAGGGGGGTGACCTGTGT GTGCGGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGC GGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGCAG AAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAA GAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGTGCA GAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGA AGAGCTTGAGT		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20						chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132173111	C C	CCCTCCCC others(430): Show CCCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCCCCCTCCCCC TCCCCCCCTCTCCCCTCCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCC TCCCCCCTCTCTCTCCCCCTCCCTCCCCCCCTCTCTCTCCCCCCTCTCTC TCCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTCATCCCCCCTC CCCCATCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCC CCCTCCCCCCCTCCCCCTCCCCCATCCCCCTCCCCCCCTCCCCCTCCCCC ATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCC CCCCTCTTCCCTCTCTCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTC CTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0008 a0002c0025t0008	a0002c0025t0008g0033 a0002c0025t0008g0033	1	158	0.0063	437	c.11 others(458): Show c.1103+4079_*1103+4080insCTCCCCCTCCCCCTCTCTCTCCCC CTCCCCCCTCTCTCCCCCTCCCCCTCCCCCCCTCTCCCCTCCCCCCTCTC TCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCTCC CCCCCTCTCTCTCCCCCCTCTCTCTCCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCTCCCCCTCATCCCCCCTCCCCCATCCCCCCTATCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCATC CCCCTCCCCCCCTCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCTCTCC CCCTCCCCCTCCTTCCCTCTCTCCCCCCTCTTCCCTCTCTCCCCCCTCCT TCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTT CCCTCTCTCTCTC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(430): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATATTA TATAAAATATATATTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATAATATATAAAATATATACTATATATAAAATATAT AATATATATAAAATATATACTATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0015 a0001c0001t0010 a0001c0002t0015	a0001c0001t0010g0235 a0001c0002t0015g0248 a0001c0001t0010g0235 a0001c0002t0015g0248	2	260	0.0077	437	c.963 others(456): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATAATATATAAAATATATACTA TATATAAAATATATAATATATATAAAATATATACTATATATAAAATATAT ATTATATATAA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209572	T T	TAGATATT others(430): Show TAGATATTATATATAAAATATATAAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01928.hp2 HG02004.hp1 HG01261.hp1 HG01928.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0039 a0001c0001t0012 a0001c0001t0039	a0001c0001t0012g0063 a0001c0001t0039g0026 a0001c0001t0039g0036 a0001c0001t0012g0063 a0001c0001t0039g0026 a0001c0001t0039g0036	3	260	0.0115	437	c.963 others(456): Show c.963+14481_963+14482insGATATTATATATAAAATATATAAAAT AGATATATATAAAATATATAAAATAGATATTATATATAAAATATATATAA TATATATATAAAATAGATATTATATATAAAATATATATTATATATTATAT AAAATATATATTATATATTATATAATATATAATATATATTATATATATTA TATATTATATATTAAATATATATTATATATATAAAATATATATAAAATAT ATATTATATAAAATATATATAAAATATATATTATATAAAATATATATAAA ATATATATTATATAAAATATATATTATATATAAAATATATAATATATATA AAATATATACTATATATAAAATATATACTATATATAAAATATATACTATA TATAAAATATATACTATATATAAAATATATATTATATATAAAATATATAC TATATATAAAA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(430): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATAATATATATAAAATATAT AATATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19074.hp1 NA19054.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0157 a0001c0001t0001g0013 a0001c0001t0001g0157	2	260	0.0077	437	c.963 others(456): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT AATATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAAATATA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(430): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATATTATATATAAAATATAT AATATATATAAAATATATACTATATATAAAATATATAATATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01261.hp2 others(17): Show HG00323.hp1 HG01099.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01993.hp2 HG02080.hp1 HG02523.hp2 HG03669.hp1 HG03831.hp2 NA18945.hp1 NA18960.hp2 NA18965.hp2 NA18980.hp1 NA19005.hp2 NA19066.hp2 NA19084.hp1 NA19086.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0031 a0001c0001t0035 a0001c0001t0073 a0001c0001t0074	a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0225 others(17): Show a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0002g0210 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0246 a0001c0001t0004g0191 a0001c0001t0004g0226 a0001c0001t0006g0188 a0001c0001t0006g0206 a0001c0001t0012g0068 a0001c0001t0015g0076 a0001c0001t0016g0027 a0001c0001t0022g0189 a0001c0001t0022g0227 a0001c0001t0031g0260 a0001c0001t0035g0213 a0001c0001t0073g0044 a0001c0001t0074g0100	20	260	0.0769	437	c.963 others(456): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATAATATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAAATATA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(430): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATATTATATATAAAATATAT AATATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18954.hp1 NA18986.hp2 others(1): Show HG01928.hp1 NA18954.hp1 NA18986.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0038 a0001c0001t0002 a0001c0001t0004 a0001c0001t0038	a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0004g0217 others(1): Show a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0004g0217 a0001c0001t0038g0162	4	260	0.0154	437	c.963 others(456): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAAATATA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(430): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATATTATATATAAAATATAT ACTATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19057.hp2 NA19012.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0190 a0001c0001t0006g0154 a0001c0001t0002g0190 a0001c0001t0006g0154	2	260	0.0077	437	c.963 others(456): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATACTATATATAAAATATATATTATATATAAAATATATACTATA TATAAAATATA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(430): Show CATCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCA TCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATC ACCATCACCACCATCACCATCACCACCAACATCACATCAACACCATGACC ACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCAC CACCACCATCACTATCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCAC CATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCA CCACCACCACCATCACCATCACCACCACCATCACCATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp2 others(14): Show HG00140.hp2 HG00323.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01516.hp1 HG01517.hp2 HG02129.hp1 HG02683.hp1 HG03492.hp1 HG03834.hp2 HG03942.hp2 NA18970.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0016 a0002c0001 others(1): Show a0001c0002 a0001c0016 a0002c0001 a0002c0018	a0001c0002t0002 a0001c0002t0054 a0001c0002t0055 others(4): Show a0001c0002t0002 a0001c0002t0054 a0001c0002t0055 a0001c0016t0002 a0002c0001t0006 a0002c0001t0049 a0002c0018t0006	a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 others(14): Show a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0189 a0001c0002t0002g0242 a0001c0002t0054g0137 a0001c0002t0055g0188 a0001c0016t0002g0181 a0002c0001t0006g0140 a0002c0001t0006g0141 a0002c0001t0049g0223 a0002c0018t0006g0006	17	330	0.0515	437	c.691 others(452): Show c.691-367_691-366insAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGG TGGTAATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATAGTGA TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTTTTGGTGGTG GTGATGGTGGTCATGGTGTTGATGTGATGTTGGTGGTGATGGTGATGGTG GTGATGGTGATGGTAATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGAT GATGGTGATGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGG TGGTGAT		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
LOC128125818_chr4_6059977_6075162	6067580	C C	CACTCAAG others(430): Show CACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCA CTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGT TCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTTC ACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCAC TCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTC AAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCACTCAA GCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTTACTCAAGC TCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTC TTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG03195.hp1 others(1): Show HG02451.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	4	462	0.0087	437	c.106 others(454): Show c.106+2476_106+2477insAAACCTGGAGCTCAGGGGGGTGACCTGT GTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGT GTGCGGAAGAGCTTGAGTAAACCTGGAGCTCAGGGGGGTGACCTGTGTGT GCGGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGC AGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCGG AAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGCAGAA GAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAGA GCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGTGCAGA AGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAAG AGCTTGAGT		LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1						chr4	TogoVar
MAD1L1_chr7_1810795_2237945	1940964	G G	GCAGGCCT others(430): Show GCAGGCCTCAGCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTC CCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCT TCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCT CTTCCTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACC CTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAG GCCTCAGCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCC CGCAGGCCTCAGCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCT CCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCACCCTCCTC TTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	264	0.0038	437	c.159 others(456): Show c.1597-4068_1597-4067insGGAGAGGAAGAGGAGGGTGAGGCCTG CGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGAGGAGGGTGAG GCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGG CTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGA GGAGGCTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGG GAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCC TGGGAGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGCTGAGG CCTGGGAGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGA GGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAG GCTGAGGCCTG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18						chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579123	C C	CCACCACC others(430): Show CCACCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCAC CACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATC ACCACCACCATCACCATCACCACCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0041 a0041	a0041c0059 a0041c0059	a0041c0059t0001 a0041c0059t0001	a0041c0059t0001g0304 a0041c0059t0001g0304	1	362	0.0028	437	c.391 others(452): Show c.391+625_391+626insCACCACCACCACCATCACCACCACCACCCT TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA TCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCAT		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18						chr4	TogoVar

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