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
METRNL_chr17_83074609_83100122	83090230	A A	ACACCCCC others(452): Show ACACCCCCCCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCC CCAGGGTGGGAGCCACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACACCCCCCACCCCCCGCCCCAGGGTGGGAACCACACACCCCCGCC CTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGG TGGGAGCCACACACACACACCCCCCCACACACACACCCCGCCCCACACAC ACACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCG CCCCACACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCGC CCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACA CACCCCCGCCCCGCCCCAGGGTGGGAGCCACACCCCCCCGCCCCGCCCCA GGGTGGGAAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	399	0.0025	459	c.557 others(476): Show c.557-2934_557-2933insCCCCCCGCCCCGCCCCAGGGTGGGAACC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCTG CCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGG GAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCCACACAC ACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCC CCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACA CACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGC CCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACA CCCCCCCGCCCCGCCCCAGGGTGGGAACCAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17876914	G G	GGTTAGGG others(452): Show GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGG TTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0211	1	274	0.0037	459	c.224 others(478): Show c.2242-4892_2242-4891insTTCCCTAACCTCCATAACCTCCCTAA CCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCC ATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTCAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCCATAACC TCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCT CCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877522	G G	GGGAAGTT others(452): Show GGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTGAGGGAGATTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGG AGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTGAGGGAGATTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0002 a0001c0065t0002	a0001c0065t0002g0029 a0001c0065t0002g0029	1	274	0.0037	459	c.224 others(478): Show c.2242-5500_2242-5499insATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAA CCTCCATAATCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCC ATAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACC TCCATAATCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877529	G G	GAGGGAGG others(452): Show GAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTT ATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAGGGAGGTGA GGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGA TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0215 a0001c0001t0007g0215	1	274	0.0037	459	c.224 others(478): Show c.2242-5507_2242-5506insAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACT TCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCAT AACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTC CCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAA TCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCC CTCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCATAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(452): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTG TTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGT GGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTG GTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGT GGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp2 others(40): Show HG00099.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02129.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03942.hp1 NA18939.hp2 NA18942.hp2 NA18961.hp1 NA19077.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0017 a0002c0012 others(1): Show a0001c0001 a0001c0017 a0002c0012 a0008c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0029 a0001c0001t0032 a0001c0001t0043 a0001c0001t0046 a0001c0001t0055 a0001c0017t0002 a0002c0012t0001 a0002c0012t0004 a0008c0015t0002	a0001c0001t0002g0004 a0001c0001t0002g0154 a0001c0001t0002g0155 others(39): Show a0001c0001t0002g0004 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0222 a0001c0001t0004g0181 a0001c0001t0005g0167 a0001c0001t0005g0210 a0001c0001t0014g0195 a0001c0001t0029g0178 a0001c0001t0032g0191 a0001c0001t0043g0161 a0001c0001t0046g0197 a0001c0001t0055g0198 a0001c0017t0002g0192 a0002c0012t0001g0153 a0002c0012t0004g0188 a0008c0015t0002g0196	43	360	0.1194	459	c.57+ others(476): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGG AGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGG GAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG AGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGG GAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237544668	G G	GGGACAGT others(452): Show GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGAGACAGTGGTGAG TTGGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTG AGTGGGGAGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGTACAGTGG TGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTG GTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACA GTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGGGACAGTGGTGAGGGGACAGTAGTGAGTAGGGGACAG TGGTGATTTGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGAC AGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	286	0.0035	459	c.154 others(478): Show c.1540-1937_1540-1936insGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGCACAGT GGTGAGTGGAGACAGTGGTGAGTTGGGGGACAGTAGTGAGTGGGGGGACA GTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGAGTAGGGGGA CAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGG CACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGGG GACAGTAGTGAGTAGGGGACAGTGGTGATTTGGGGCACAGTGGTGAGTGG GGACAGTGGTGAGTTGGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43432663	A A	AGAGAGAA others(452): Show AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAAGGGAGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGG GAGGAAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGGAGAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAGGGAGGAGAGA GAGAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAAAGGGAGAGAAGGGAGGAGAGAGAGATAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGGAGAGAGAG AGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0203 a0001c0007t0002g0203	1	250	0.0040	459	c.225 others(476): Show c.225-2365_225-2364insAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAGGGAGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAGAGAAAGGGAGGAGAGAGAAAGG GAGGAGAGAGAAAGGGAGGAAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGGA GAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAGGGAGGAGAGAGAGAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGAGAAGGG AGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGAGGAGAGAGAGAGAAAGGGAGGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495763	G G	GGTGGAGG others(452): Show GGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGG AGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTG GTGGTGGAGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGAT GGTGGAGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAG TGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGATG GTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGATGGTGGA GGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGATGGTGGAGG TGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAG GTAGTGGTGGTAGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGT GGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp2 HG03540.hp2 HG02647.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0174 a0001c0001t0003g0167 a0001c0001t0006g0084 a0001c0001t0002g0174 a0001c0001t0003g0167 a0001c0001t0006g0084	3	250	0.0120	459	c.633 others(476): Show c.633-2468_633-2467insAGGTAGTGGTGGTGGAGATGGTGGTGGT GGAGGTAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGG TGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGGTGGTG GTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTGGTGATGGTGGA GGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGG TGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTG GTGGAGGTGATGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGAT GGTGGTGATGGTGGAGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGG TGGAGGTGGTGGTGGAGGTAGTGGTGGTAGAGATGGTGGTGGTGGAGGTG GTGGTGGAGGTAGTGGTGGTGGAGGTAGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500173	A A	AGGTGGCA others(452): Show AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTA ATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGG TGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGG GGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGG TGATGGAGGT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	250	0.0040	459	c.748 others(476): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGT GGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATG GAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGG TAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTG ATGATGGTGGTGATGGTGATGGAGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(452): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGTCCCCCGCCTGGCCAGC CGTGCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCACGTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0251 a0001c0007t0001g0251	1	256	0.0039	459	c.241 others(478): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGG ACTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(452): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	459	c.-28 others(470): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATAT AAAAATTTATATTTATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(452): Show TAATATAATATATATAAATATATAATATATATTATATATTATATATAAAT ATATAATATATATTATATATTATATATATTATAATATATAATATATATTA TATATATTATAATATATAATATATATTATATATATTATATATTATATATA TATATATATATAATATATATTATATATAAATATATAATATATATTATATA TATATATTATATAATATATTATATATATTATATAATATATTGTATATTAT ATAATATATAATATATAATATATATTATATATAAATATATAATATATAAT ATAATATATAATATATAATATATTATATATATTATATTATATATATTATA TAATATATAATATATTATATATTATATATTTATATATAATATATATATAA TATATATTATATATTATATAATATATAATATATTATATATTATATAATAT ATATAATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0068 a0002c0002t0068	a0002c0002t0068g0144 a0002c0002t0068g0144	1	348	0.0029	459	c.48+ others(474): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TTATATATTATATATAAATATATAATATATATTATATATTATATATATTA TAATATATAATATATATTATATATATTATAATATATAATATATATTATAT ATATTATATATTATATATATATATATATATAATATATATTATATATAAAT ATATAATATATATTATATATATATATTATATAATATATTATATATATTAT ATAATATATTGTATATTATATAATATATAATATATAATATATATTATATA TAAATATATAATATATAATATAATATATAATATATAATATATTATATATA TTATATTATATATATTATATAATATATAATATATTATATATTATATATTT ATATATAATATATATATAATATATATTATATATTATATAATATATAATAT ATTATATATTATATAATATATATAATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAT others(452): Show TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT AATATATAATATATATTATATATTATATATATTATAATATATAATATATA TAATATATATTATATATTATATATATATAATATATAATATATATTATATA TAAATATATAATATATAATATATATTATATATATATTATATAATATATAA TATATTATATATATTATATAATATATTGTATATTATATAATATATAATAT ATAATATATATTATATATAAATATATAATATATAATATAATATATAATAT ATAATATATTATATATATTATATTATATATATTATATTATATATAATATA TTATATATTATATATTTATATATAATATATATATAATATATATTATATAT TATATAATATATAATATATTATATATTATATAATATATATAATATATTAT ATAATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0149 a0003c0004t0006g0149	1	348	0.0029	459	c.48+ others(474): Show c.48+1020_48+1021insAATATATATTATATATAAATATATAATATA TATTATATATTATATATATAATATATAATATATATTATATATTATATATA TTATAATATATAATATATATAATATATATTATATATTATATATATATAAT ATATAATATATATTATATATAAATATATAATATATAATATATATTATATA TATATTATATAATATATAATATATTATATATATTATATAATATATTGTAT ATTATATAATATATAATATATAATATATATTATATATAAATATATAATAT ATAATATAATATATAATATATAATATATTATATATATTATATTATATATA TTATATTATATATAATATATTATATATTATATATTTATATATAATATATA TATAATATATATTATATATTATATAATATATAATATATTATATATTATAT AATATATATAATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(452): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATATATAAATATATA TAATATATAATATATATTATATATAAATATATAATATATAATATATATTA TATATTATATAATATGTAAATATATATTATATATATTATATAATATATAA TATATTATATATATTATATAATATATTATATATAATATAATATATTATAT ATTATATAATATATTATATATTATATAATATATTATATATAATATATAAT ATATTATATA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0061 a0002c0003t0061	a0002c0003t0061g0161 a0002c0003t0061g0161	1	348	0.0029	459	c.48+ others(474): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT AATATATAATATATATTATATATTATATAATATGTAAATATATATTATAT ATATTATATAATATATAATATATTATATATATTATATAATATATTATATA TAATATAATATATTATATATTATATAATATATTATATATTATATAATATA TTATATATAATATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(452): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCT CTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	2	319	0.0063	459	c.-13 others(470): Show c.-1347_-1346insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC TCAGCCCAGGGACCTCTGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993497	T T	TCCCTCCC others(452): Show TCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0031 a0031	a0031c0053 a0031c0053	a0031c0053t0026 a0031c0053t0026	a0031c0053t0026g0321 a0031c0053t0026g0321	1	350	0.0029	459	c.55 others(470): Show c.5584_*5585insCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4869		chr19	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(452): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAG GAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGGAAGGGG GAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGGG AGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0026 a0002c0002t0050g0026	1	344	0.0029	459	c.154 others(476): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCT TTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCC CCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(452): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCTCTCCTCTC CTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	326	0.0031	459	c.433 others(476): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGGAGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(452): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	326	0.0031	459	c.433 others(476): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGG GGGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OR1F1_chr16_3183204_3211556	3197780	A A	AGGGAGAG others(452): Show AGGGAGAGGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAAGGAGAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	328	0.0031	459	c.-12 others(476): Show c.-12-6446_-12-6445insGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAG AGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGG AGAGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAAGGAGAGGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGG AGAAGGAGAGGGAGAAGGAGAGGGGAGAGGG	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGAAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	115	0.0087	459	c.305 others(480): Show c.3052+23979_3052+23980insAAGGAGGGGGGAGGAGGCGGAGGG GGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGA GGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGA GGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGG GGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGG GGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAG GAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGG GGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCA GGAGGAGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGG GGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGCGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0057 a0004c0005t0001g0057	1	115	0.0087	459	c.305 others(480): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGCGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGG GAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGG ACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAG GGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAG GAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	115	0.0087	459	c.305 others(480): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGA GGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG CGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGG GAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGA GGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGAGGAGGGGGGAGGA GGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGG AGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAC GGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGG GGAGGAGGAGGGGGAGGAGGAGGAGTGTGGGGAGGAGGAGGGGGCAGGAG GAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	115	0.0087	459	c.305 others(480): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGAGGAGGGGGGAGGAGGAGG AGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGA GGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGG AGGAGGGGGAGGAGGAGGAGTGTGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02071.hp1 HG01167.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0062 a0001c0001t0001g0086	2	115	0.0174	459	c.305 others(480): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGG AGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	115	0.0087	459	c.305 others(480): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGGCAGGAG GAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	115	0.0087	459	c.305 others(480): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGGAGGAGG ACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAG GGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAG GAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	115	0.0087	459	c.305 others(480): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGGAGGAGGACGGG GAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGA GGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGGAGGGGAGGAG GAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGG GAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGG ACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAG GGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAG GAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	115	0.0087	459	c.305 others(480): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGGAGGGGAGGAGGAGGG GGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGA GGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG CGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGG GAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGA GGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(452): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGGAGGAGGCGGAGGGGGAG GAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAG GAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGG GAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGG ACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAG GGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAG GAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAG GAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	115	0.0087	459	c.305 others(480): Show c.3052+23989_3052+23990insGGAGGAGGCGGAGGGGGAGGAGGA GGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGG GGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGA GGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG CGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGG GAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGA GGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(452): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGAGCAGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0066 a0005c0066	a0005c0066t0002 a0005c0066t0002	a0005c0066t0002g0016 a0005c0066t0002g0016	1	166	0.0060	459	c.633 others(476): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGAGCA GGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(452): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	166	0.0060	459	c.633 others(476): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(452): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	166	0.0060	459	c.633 others(476): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGACGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(452): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG00741.hp1 others(6): Show HG00544.hp1 HG00738.hp2 HG00741.hp1 HG01934.hp2 HG03540.hp2 HG03669.hp2 HG06807.hp1 NA19000.hp1 NA20805.hp1	a0002 a0003 a0006 others(4): Show a0002 a0003 a0006 a0007 a0009 a0013 a0046	a0002c0094 a0003c0010 a0006c0012 others(6): Show a0002c0094 a0003c0010 a0006c0012 a0007c0008 a0007c0076 a0009c0021 a0009c0059 a0013c0020 a0046c0086	a0002c0094t0025 a0003c0010t0003 a0006c0012t0007 others(6): Show a0002c0094t0025 a0003c0010t0003 a0006c0012t0007 a0007c0008t0001 a0007c0076t0001 a0009c0021t0002 a0009c0059t0002 a0013c0020t0003 a0046c0086t0001	a0002c0094t0025g0090 a0003c0010t0003g0021 a0006c0012t0007g0034 others(6): Show a0002c0094t0025g0090 a0003c0010t0003g0021 a0006c0012t0007g0034 a0007c0008t0001g0026 a0007c0076t0001g0029 a0009c0021t0002g0151 a0009c0059t0002g0141 a0013c0020t0003g0106 a0046c0086t0001g0159	9	166	0.0542	459	c.633 others(476): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(452): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0018 a0018	a0018c0089 a0018c0089	a0018c0089t0003 a0018c0089t0003	a0018c0089t0003g0099 a0018c0089t0003g0099	1	166	0.0060	459	c.633 others(476): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(452): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCC TCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAA GGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0062 a0022c0028t0062	a0022c0028t0062g0074 a0022c0028t0062g0074	1	166	0.0060	459	c.633 others(476): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(452): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCTCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGTGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGG ACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0008 a0008	a0008c0060 a0008c0060	a0008c0060t0043 a0008c0060t0043	a0008c0060t0043g0166 a0008c0060t0043g0166	1	166	0.0060	459	c.633 others(476): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCTCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGTGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063964	C C	CCCCCCCA others(452): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACG GGGCGGCTGGCCGGCCGGGGGGCTGACCCCCACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGAC GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0037 a0037	a0037c0040 a0037c0040	a0037c0040t0015 a0037c0040t0015	a0037c0040t0015g0165 a0037c0040t0015g0165	1	166	0.0060	459	c.633 others(476): Show c.633-3986_633-3985insCACCTCCCTCCCGGACGGGGCGGCTGGT CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGCCGGGGGGCTGACCCCCACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGG GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACACCCCC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDXK_chr21_43714129_43767299	43741273	G G	GCTGGCGG others(452): Show GCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTG GCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGG CTCGCGGGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0321 a0001c0001t0006g0321	1	358	0.0028	459	c.143 others(474): Show c.143-394_143-393insCTGGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCT CGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCC GGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CCGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTCGCGGGGC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10			chr21	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GAGGGGAG others(452): Show GAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGG AAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAG GGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGAGAAGAAGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGGGAAGGGGAGAGGAGGGAAGGGGGAAGAGGGGAT GGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0084 a0001c0007t0084	a0001c0007t0084g0005 a0001c0007t0084g0005	1	218	0.0046	459	c.262 others(474): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTTCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCTTCTT CTCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCCT CCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCCC TCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCCCTCC CCTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCC TCTTCCCCCTCCCCTCTTCCCCCTCCCCT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	398208	G G	GTACCCCC others(452): Show GTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCAT CACCTCCGTACACCCGCACATACCTGCGTCACCTCCGTACCCCCACATAT ACCTCATCACCTCCATACCCCCGCACACACCTCCGTCACCTCCGTACCCC CGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGC GTCACCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	216	0.0046	459	c.106 others(476): Show c.1068+615_1068+616insTACCTGCGTCACCTCCGTACCCCCACAT ATACCTCATCACCTCCATACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT CCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCAC ATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTA CCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCT GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCAC ATATACCTCATCACCTCCGTACACCCGCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(452): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATATTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATATATAATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTATATAATATATAATTATAT ATTATTTATTATATAATATATAATTATATATTATTTATTATATAATTATA TATTATGTATTATATAATATATAATTATATATTATGTATTATATAATTAT ATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTATT ACATAATTATATATTATTTATTACATAAGTATATATCACTTATTATATAA TTGTATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAA TTGTATATAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	106	0.0094	459	c.862 others(476): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATATTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT ATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTTA TTATATAATATATAATTATATATTATTTATTATATAATATATAATTATAT ATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTATA TATTATGTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTACATAATTATATATTATTTATTACATAAG TATATATCACTTATTATATAATTGTATATAATTATTTATTATATAATTGC ATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PRKCB_chr16_23830983_24225611	23981914	C C	CCCTTCCC others(452): Show CCCTTCCCTTTCCCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACT TCCCTTTCCCTTCACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCT TCCCCTTCCCTTTCCCTTCCCCTTCTCTTTCCCTTCCCTTTCCCTTCCCT TTCCTTTTCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCTTCCCCTTCCCC TTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCCTTCCCTTCCC CTTCCCCTTCCCTTTACCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CCTTCCCCTTCCCTTCCCTTCTCCTTCCCTTCCCCTTCCCTTCCCTTTCC CTTCCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTCCCCTTCCC TTTCCCTTACCCTTCCCTTTCCCTTCCCCTTCTCTTTCCTTTCCCTTTCC CTTTCCATTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0061 a0001c0010t0061	a0001c0010t0061g0111 a0001c0010t0061g0111	1	148	0.0068	459	c.206 others(476): Show c.206-6592_206-6591insTTCCCTTTCCCTTCCTTTTCCCTTCCAC TTCCCCTTTCCCTTCCACTTCCCTTTCCCTTCACCTTCCCCTTCCCTTTC CCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTTCCCCTTCTCTTTC CCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTTCCCTTTCCCTTCC TTTTCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCCTCCCCCTTCCCTTCCCCTTCCCCTTCCCTTTACCTTCCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCTCCTTCCCTT CCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCTTT CCCTTCCCCTCCCCTTCCCTTTCCCTTACCCTTCCCTTTCCCTTCCCCTT CTCTTTCCTTTCCCTTTCCCTTTCCATTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(452): Show CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCC ACCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGGCTGACCC CCCCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCC CCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGG GCGGCTGGCCTGGCGGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGG GCGGCTGGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0037 a0001c0008t0037	a0001c0008t0037g0123 a0001c0008t0037g0123	1	148	0.0068	459	c.822 others(476): Show c.822-3678_822-3677insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCC ACCCATCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGGCTGACCC CCCCACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGATCCC CCCACCTCCCTCCAAGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGG GCGGCTGGCCTGGCGGGGGGGCTGACCCCCCTACCTCCCTCCCGGATGGG GCGGCTGGTGGGGCGGGGGGCTGACCCCCCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(452): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGAT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	323	0.0031	459	c.405 others(476): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(452): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGGC GGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGGT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	323	0.0031	459	c.405 others(476): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(452): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGAT GGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	323	0.0031	459	c.405 others(476): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(452): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGAT GGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(58): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp2 HG01361.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02738.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18945.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19043.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0030	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(51): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0272 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0296 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0293 a0001c0001t0005g0003 a0001c0001t0005g0262 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0006g0179 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0010g0106 a0001c0001t0010g0107 a0001c0001t0013g0204 a0001c0001t0013g0205 a0001c0001t0022g0153 a0001c0001t0030g0140	61	323	0.1889	459	c.405 others(476): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(452): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGAT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG02735.hp1 others(1): Show HG00140.hp1 HG01070.hp1 HG02735.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0237 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0237 a0001c0001t0001g0292	4	323	0.0124	459	c.405 others(476): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(452): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	323	0.0031	459	c.405 others(476): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar

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