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
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCCGCAGG others(356): Show TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCTCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGA CCTCCGCAGGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	314	0.0032	363	c.17 others(374): Show c.1797_*1798insCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCTCAACCCAGGGACCTCCGCAGGCCAC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252917	C C	CCACCACC others(356): Show CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCATCACCATCACCACCACCACCACCACCACCACCA CCATCACCATCACCACCACCATCACCACCACCATCACCACCACCACCACC ACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0111 a0003c0005t0111	a0003c0005t0111g0044 a0003c0005t0111g0044	1	366	0.0027	363	c.666 others(380): Show c.666+1708_666+1709insCCATCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCATCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCATCACCATCACCACCACC ACCACCACCACCACCACCATCACCATCACCACCACCATCACCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113826388	C C	CTCGCAGG others(356): Show CTCGCAGGCACCTTCTCTCCCCCGCCTCCCGGCGCCGGCCTCGCAGGCAC CTTCTCTCCCCGGCCTCCCGGCGCCAGCCTCGGCTTCGCAGGCACCTTCT CTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCAGCCT CCCAGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGG CCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCA CCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCC CGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGG CGCCAGCCTCGGCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0043	1	143	0.0070	363	c.147 others(380): Show c.1477+607_1477+608insAGCCGAGGCTGGCGCCGGGAGGCCGGGG AGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGC CTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCG GCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGG CCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCTGGGAGGCTGGGGAGAGA AGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCG AAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCC GGCGCCGGGAGGCGGGGGAGAGAAGGTGCCTGCGA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GRM6_chr5_178973327_179000320	178999547	T T	TGTATTTT others(356): Show TGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCG AACCCCTGACCTCGTGATCCGCCCACCTCGCCCTCCCAAAGTGCTGGGAT TACAGGTGTTAGCCACCATGCCCGGCCATCAGTGTCCACATCTTTTAAGT GGAAAACTTGATATGGCAAATTCTAGTGTTTTAAAATTTCAATTCAATGT TTCTTTTTTTTTTTTTTGAGAGGGAATCTCGCTCTGTCCCCCAGGCTGGA GTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAC GCCATTCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCCAGC TAATTTTTTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp2 NA18948.hp2 HG01168.hp1 HG01168.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0204 a0002c0002t0001g0217 a0002c0002t0004g0297 a0002c0002t0001g0204 a0002c0002t0001g0217 a0002c0002t0004g0297	3	468	0.0064	363	c.-42 others(374): Show c.-4289_-4288insCACACAAAAAATTAGCTGGGTGTGGTGGTGGGCA CCTGTAGTCCCAGCTACTCAGGAGAATGGCGTGAACCTGGGAGGCGGAGG TTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGGGACAGAGC GAGATTCCCTCTCAAAAAAAAAAAAAAGAAACATTGAATTGAAATTTTAA AACACTAGAATTTGCCATATCAAGTTTTCCACTTAAAAGATGTGGACACT GATGGCCGGGCATGGTGGCTAACACCTGTAATCCCAGCACTTTGGGAGGG CGAGGTGGGCGGATCACGAGGTCAGGGGTTCGAGACCAGCCTGGCCAATA TGGTGAAACCCTGTCTCTACTAAAAATAC	GRM6	ENSG00000113262.16	transcript	ENST00000517717.3	protein_coding		4228		chr5	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(356): Show CTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCCTCC TCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0016 a0016	a0016c0049 a0016c0049	a0016c0049t0037 a0016c0049t0037	a0016c0049t0037g0125 a0016c0049t0037g0125	1	290	0.0035	363	c.427 others(380): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCC CCCTCCTCCTCCCCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCC CTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(356): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAA AAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18964.hp2 NA18967.hp2 HG02027.hp1 NA18964.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0010g0147 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0010g0147	3	270	0.0111	363	c.178 others(382): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HIVEP3_chr1_41501365_41923922	41544699	T T	TCACCACC others(356): Show TCACCACCACCACTACTACCACCTGTACCACCACTGCTACCATCACCACC ACTACCACCACCATCACCACCACTACCACTACCTCTACCTCCACTGCTAC CATCACCACCACCACTACCACCTGTACCACCACCGCTACCATCACCACCA CTACCACCACCATCACCACCACTACCACTACCTCTACCTCCACTGCTACC ATCACCACCACCACTACCACCTGTACCACCACTGCTACCATCACCACCAC TACCACCACCATCACCACCACTACCACTACCTCTACCTCCACTGCTACCA TCACCACCACCACTACCACCACTACTACCACCACCACCACCTCTACCACC ACTGCTACCATCAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0031 a0001c0003t0002g0031	1	134	0.0075	363	c.520 others(384): Show c.5208-19790_5208-19789insGTGATGGTAGCAGTGGTGGTAGAG GTGGTGGTGGTGGTAGTAGTGGTGGTAGTGGTGGTGGTGATGGTAGCAGT GGAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTGGTAGTGGTGGTGA TGGTAGCAGTGGTGGTACAGGTGGTAGTGGTGGTGGTGATGGTAGCAGTG GAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTGGTAGTGGTGGTGAT GGTAGCGGTGGTGGTACAGGTGGTAGTGGTGGTGGTGATGGTAGCAGTGG AGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTGGTAGTGGTGGTGATG GTAGCAGTGGTGGTACAGGTGGTAGTAGTGGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544864	C C	CCACCACC others(356): Show CCACCACCACTACCACCTCTACCACCTCTACCACCACCATCACCACCACC ACCACCATCACCACCTCTACCACCACCACCACCACCACCACTACCACCTC TACCACCACCACCACCACCACCACTACCACCTCTACCACCTCTACCACCA CCATCACCACCACCACTACCACCACCACCACCACCACCACCACCACTACC ACCTCTACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCAC CATCATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCA CCACCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACC TCTACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0007 a0005c0005t0001g0007	1	134	0.0075	363	c.520 others(384): Show c.5208-19955_5208-19954insATGGTGGTGGTAGAGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAG AGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTG GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTAG TGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544864	C C	CCACCACC others(356): Show CCACCACCACTACCACCTCTACCACCTCTACCACCACGACCACCACTACC ACCTCTACCACCACCATCATCACCACCACCACTACCACCTCTACCACCAC CATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACCACCA CCACCATCACCACCTCTACCACCACCATCACCACCACCACTATCACCACC TCTACCACCACCATCACCACCACCACCACCACCTCTACCACCACCATCAC CACCACCACCACTACCACCTCTACCACCACCATCACTACTACCACCACCA CCATCACCACCTCTACCACCACCATCACCACCACCACCACCATCACCACC TCTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0070 a0005c0005t0070	a0005c0005t0070g0060 a0005c0005t0070g0060	1	134	0.0075	363	c.520 others(384): Show c.5208-19955_5208-19954insATGGTGGTGGTAGAGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGT AGTAGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGATGGTGG TGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATA GTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG AGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTG GTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399272	C C	CACCACCA others(356): Show CACCACCACCATCACCACCACCACCACCACCACCGCCGCTGCCGCTACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCATC ATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCGC CGCTGCCGCTACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCATCATCAC CACCACCACCATCACCACCATCACCACCATCACCACCACCACCACCACCA CCGCCGCTGCCGCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	314	0.0032	363	c.-25 others(380): Show c.-25+2359_-25+2360insCCATCACCACCACCACCACCACCACCGC CGCTGCCGCTACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCATCACCATCATCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCATCACCACCATCACCACCATCACCAC CACCACCACCACCACCGCCGCTGCCGCTACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HS3ST2_chr16_22809162_22921338	22890462	T T	TTAAAGCT others(356): Show TTAAAGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCACCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0267 a0001c0004t0002g0267	1	350	0.0029	363	c.486 others(382): Show c.486-24469_486-24468insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAAAGCTTTCTTT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HTR3B_chr11_113899796_113954079	113947566	A A	ACTTCTTG others(356): Show ACTTCTTGCTTTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCTGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0069 a0001c0001t0053g0069	1	418	0.0024	363	c.14 others(374): Show c.1446_*1447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCTGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTCTTGCTTTGTTTTC	HTR3B	ENSG00000149305.8	transcript	ENST00000260191.8	protein_coding	9/9	1447	INFO_REALIGN_3_PRIME	chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322606	T T	TACATGGA others(356): Show TACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGG AATATATACATGGAATATGTGTATATGGAATATATACATGGAATATATGT ATATGGAATATATACATGGAATATATATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATATGGAATATATACATGGA ATATATATATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAACATATACATGGAATATA TACATGGAACATATACATGGAATATATACATGGAACATATACATGGAATA TATATATATGGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	323	0.0031	363	c.-24 others(374): Show c.-2450_-2449insACATGGAATATATGTATATGGAATATATACATGG AATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATAT ACATGGAATATATGTATATGGAATATATACATGGAATATATATATGGAAT ATATACATGGAATATATATATGGAATATATACATGGAATATATATATATG GAATATATACATGGAATATATATATATGGAATATATACATGGAATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAACA TATACATGGAATATATACATGGAACATATACATGGAATATATACATGGAA CATATACATGGAATATATATATATGGAAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2363		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(356): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAG GAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAG GAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	282	0.0036	363	c.290 others(382): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTC CCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCT CCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INSIG2_chr2_118083471_118115997	118094013	T T	TGATGATG others(356): Show TGATGATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTA GCTACTGAACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGA GGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAAC CAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACT GAACCTTGCCAAAAGCAACCAGATGATGATGATGATGATGATGATGATGA TGATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAG CAACCAGATGATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTT GCCAAAAGCAACCA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	440	0.0023	363	c.-13 others(382): Show c.-138-2316_-138-2315insGGAGGAGGAGGAGGAGGAGGAGGAGA GTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGAG GAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCA ACCAGATGATGATGATGATGATGATGATGATGATGATGATGATGATGAAG GAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGA TGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGAT GATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTA CTGAACCTTGCTGAAAGCAACCAGATGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSIG2_chr2_118083471_118115997	118094092	T T	TGATGATG others(356): Show TGATGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTA CTGAACCTTGCTAAAAGCAACCAGATGATGATGATGATGAGGAGGAGGAG GAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGA TGATGATGATGATGATGATGATGATGATGATGATGATGAAGGAGAGTTCT GTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGG AGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGAT GATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTT GCTGAAAGCAACCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	440	0.0023	363	c.-13 others(382): Show c.-138-2316_-138-2315insGGAGGAGGAGGAGGAGGAGGAGGAGA GTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGAT GAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCA ACCAGATGATGATGATGATGATGATGATGATGATGATGATGATGATGATG AAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGA TGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCA GATGATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAG CTACTGAACCTTGCTGAAAGCAACCAGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSIG2_chr2_118083471_118115997	118094233	A A	AGATGATG others(356): Show AGATGATGATGATGATGATGATGATGATGATGATGATGAAGGAGAGTTCT GTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGG AGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGAT GATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTT GCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAG GAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGA TGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAA AGCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	440	0.0023	363	c.-13 others(382): Show c.-138-2151_-138-2150insTGAAGGAGAGTTCTGTAGCTACTGAA CCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGGAGAGTTCTGTAG CTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGATGATGAT GATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTTGCTGAAAGCAAC CAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAGAGTTCTGTA GCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGATGAGGAGGA GGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATG ATGATGATGATGATGATGATGATGATGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSIG2_chr2_118083471_118115997	118094233	A A	AGATGATG others(356): Show AGATGATGATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCT GTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGG AGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGAT GATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTT GCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAG GAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGA TGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAA AGCAACCAGATGAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0179	1	440	0.0023	363	c.-13 others(382): Show c.-138-2151_-138-2150insTGATGGAGAGTTCTGTAGCTACTGAA CCTTGCCAAAAGCAACCAGATGATGATGATGATGAAGGAGAGTTCTGTAG CTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGATGATGATGAT GATGATGATGATGGAGAGTTCTGTAGCTACTGAACCTTGCTGAAAGCAAC CAGATGATGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAGAGTTCTGTA GCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGATGAGGAGGA GGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATG ATGATGATGATGATGATGATGATGATGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
KDM4B_chr19_4964113_5158598	5131538	A A	AGGGGCAG others(356): Show AGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCG GGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAG GTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGC AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0012 a0012	a0012c0041 a0012c0041	a0012c0041t0030 a0012c0041t0030	a0012c0041t0030g0077 a0012c0041t0030g0077	1	270	0.0037	363	c.178 others(380): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAG GTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGG AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(356): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGA TAATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATA TAGATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAAT ATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTA TAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATA TCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATC TATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATAT TATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp2 HG01891.hp1 HG03540.hp2	a0003 a0008 a0003 a0008	a0003c0130 a0008c0012 a0003c0130 a0008c0012	a0003c0130t0002 a0008c0012t0002 a0003c0130t0002 a0008c0012t0002	a0003c0130t0002g0373 a0008c0012t0002g0372 a0003c0130t0002g0373 a0008c0012t0002g0372	2	414	0.0048	363	c.480 others(378): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATAT TATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATA ATATTATCTATATTATAGATATAGATAATATCTATATTATAGATATTATC TATAATATAGATAATATCTATATTATAGATATTATCTATAATATAGATAT AGATAATATCTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(356): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01071.hp2 HG00280.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0146 a0001c0001t0006g0002 a0001c0001t0006g0146	2	375	0.0053	363	c.-22 others(374): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGCGACGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KIF5B_chr10_32004015_32061425	32031868	G G	GGGCGCCT others(356): Show GGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGACAATCACTT GAAACCAGAAGGCAGAGGTTGCAATGAGCCGCGACTGTGCCACAGCACTC CAGCCTGGGCAACAACAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAATT TTAGATTTGCTTTCAGCAACAAGTGATGACATTTGTGCTATGCCATGGAA AAACCTGGTATCAGCCAGGTGCAGTGGCTCACACCTGTAATCACAGCACT TTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTGGAGACCAG CCTGGCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGC TGGGCATGGTGGCA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18982.hp1 HG01515.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0185 a0001c0001t0001g0105 a0001c0001t0001g0185	2	364	0.0055	363	c.137 others(380): Show c.1375-590_1375-589insTGCCACCATGCCCAGCTAATTTTTGTAT TTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCCAACTC CTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGTGATTAC AGGTGTGAGCCACTGCACCTGGCTGATACCAGGTTTTTCCATGGCATAGC ACAAATGTCATCACTTGTTGCTGAAAGCAAATCTAAAATTTTTTTTTTTT TTTTGAGACGGAGTTTCACTGTTGTTGCCCAGGCTGGAGTGCTGTGGCAC AGTCGCGGCTCATTGCAACCTCTGCCTTCTGGTTTCAAGTGATTGTCCTG CCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCC	KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding	13/25			chr10	TogoVar
KREMEN1_chr22_29068035_29151820	29120084	T T	TGGAGGAG others(356): Show TGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA TGGAAATGGAGGAAGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTG ATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGA GAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAG GAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAA GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGATGGAAACAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03239.hp2 HG02738.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0057 a0001c0001t0004 a0001c0001t0057	a0001c0001t0004g0176 a0001c0001t0057g0017 a0001c0001t0004g0176 a0001c0001t0057g0017	2	368	0.0054	363	c.353 others(380): Show c.353-1253_353-1252insTGGAAACAGGGAGGAGGGAGAGGTGATG ATGGAAATGGAGGAAGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGA GGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LDAH_chr2_20679031_20828101	20738361	T T	TCTCCATA others(356): Show TCTCCATATATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	258	0.0039	363	c.703 others(380): Show c.703+1609_703+1610insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATA TATATATATATATATATATATATATATATATGGAG	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(356): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGG GTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGA GCGGGTGAGGGTGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG06807.hp2 HG01074.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0138 a0001c0001t0001g0018 a0001c0001t0001g0138	2	260	0.0077	363	c.717 others(380): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(356): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGG GTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGA GCGGGTGAGGGTGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02129.hp2 HG02165.hp1 others(1): Show HG02015.hp2 HG02129.hp2 HG02165.hp1 HG02523.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0016	a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0074 a0002c0002t0016g0052	4	260	0.0154	363	c.717 others(380): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	894214	C C	CCTGGCTG others(356): Show CCTGGCTGTCCGCCCACCCATCCCCTGTCCACCGGACCGTCCGCCCACCC GTCCCCATGTCCATCAGACCGTCCGTCCACCTGTCCCCCTGTCCCCTGTC CACCGGACCATTCGCCCACCCATCCCCCTGTCCACCTGGCCATCCGCCCA CCTGTCTCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGTCCACCG GACCGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGT CCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCCTGTCCA CCTGGCCATCCGCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCC GTCCCCCTGTCCAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp1 others(114): Show HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02896.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0012 a0014 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0020 a0001c0023 a0001c0041 a0001c0053 a0002c0007 a0002c0016 a0002c0017 a0002c0035 a0002c0051 a0003c0009 a0003c0014 a0003c0015 a0003c0032 a0004c0019 a0005c0043 a0007c0028 a0007c0046 a0010c0039 a0011c0047 a0011c0056 a0012c0037 a0014c0062 a0019c0042 a0020c0040	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0016 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0012t0018 a0001c0013t0001 a0001c0018t0001 a0001c0020t0001 a0001c0023t0001 a0001c0041t0001 a0001c0053t0002 a0002c0007t0001 a0002c0016t0001 a0002c0017t0001 a0002c0035t0001 a0002c0051t0001 a0003c0009t0001 a0003c0014t0001 a0003c0015t0001 a0003c0032t0001 a0004c0019t0001 a0005c0043t0003 a0007c0028t0004 a0007c0046t0004 a0010c0039t0002 a0011c0047t0010 a0011c0056t0009 a0012c0037t0005 a0014c0062t0008 a0019c0042t0001 a0020c0040t0004	a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0001g0122 others(114): Show a0001c0001t0001g0103 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0135 a0001c0001t0002g0229 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0006g0050 a0001c0002t0011g0292 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0001g0176 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0001g0202 a0001c0003t0001g0237 a0001c0003t0001g0250 a0001c0004t0001g0053 a0001c0004t0001g0065 a0001c0004t0001g0067 a0001c0004t0001g0075 a0001c0004t0001g0077 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0004g0030 a0001c0004t0005g0078 a0001c0004t0016g0025 a0001c0006t0001g0055 a0001c0006t0001g0082 a0001c0006t0001g0092 a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0002g0282 a0001c0006t0002g0283 a0001c0008t0001g0052 a0001c0008t0001g0079 a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0011t0001g0155 a0001c0011t0001g0156 a0001c0011t0001g0157 a0001c0011t0001g0158 a0001c0011t0001g0159 a0001c0011t0001g0217 a0001c0012t0001g0085 a0001c0012t0018g0035 a0001c0013t0001g0045 a0001c0013t0001g0046 a0001c0013t0001g0220 a0001c0018t0001g0125 a0001c0020t0001g0099 a0001c0020t0001g0100 a0001c0023t0001g0244 a0001c0023t0001g0246 a0001c0041t0001g0088 a0001c0053t0002g0031 a0002c0007t0001g0216 a0002c0016t0001g0068 a0002c0016t0001g0070 a0002c0016t0001g0076 a0002c0017t0001g0038 a0002c0017t0001g0081 a0002c0017t0001g0096 a0002c0035t0001g0280 a0002c0051t0001g0206 a0003c0009t0001g0004 a0003c0014t0001g0009 a0003c0015t0001g0011 a0003c0032t0001g0006 a0004c0019t0001g0083 a0005c0043t0003g0119 a0007c0028t0004g0017 a0007c0046t0004g0036 a0010c0039t0002g0264 a0011c0047t0010g0281 a0011c0056t0009g0136 a0012c0037t0005g0278 a0014c0062t0008g0212 a0019c0042t0001g0084 a0020c0040t0004g0270	117	294	0.3980	363	c.664 others(380): Show c.664-1143_664-1142insCTGGACAGGGGGACGGGTGGGTGGACGG TCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACG GGTGGGCAGACGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGAC AGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAGGGGG ACGGGTGGGTGGACGGTCCGGTGGACAGGAGACAGGTGGGCGGATGGCCA GGTGGACAGGGGGATGGGTGGGCGAATGGTCCGGTGGACAGGGGACAGGG GGACAGGTGGACGGACGGTCTGATGGACATGGGGACGGGTGGGCGGACGG TCCGGTGGACAGGGGATGGGTGGGCGGACAGCCAG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237081	C C	CGGAGAGA others(356): Show CGGAGAGAGGAGGAGAGAAGAGAGAGAGATAGAGAGAGAGAGAGAGAGGG AGGGAGGGAGGTGAGGGAGGGAGGGAGGGGGAGGTAGGGAGGGATGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGATGGAGGAGAGA GAGATGAGAGAGAGAAGAGAGAGAGAGGGAGAGAGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGGAGGGAGGATGGAGGG AGGGGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAG GGAGGGGAGGGAGGGGGAGGGAGGGAGTGGAGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	330	0.0061	363	c.-41 others(374): Show c.-4199_-4198insGGAGAGAGGAGGAGAGAAGAGAGAGAGATAGAGA GAGAGAGAGAGAGGGAGGGAGGGAGGTGAGGGAGGGAGGGAGGGGGAGGT AGGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA GAGATGGAGGAGAGAGAGATGAGAGAGAGAAGAGAGAGAGAGGGAGAGAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGG AGGGAGGATGGAGGGAGGGGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGGAGGGAGGGAGTGGAGGGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAG	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		4013		chr11	TogoVar
MAD1L1_chr7_1810795_2237945	1827403	A A	AGGTGTGG others(356): Show AGGTGTGGGGTCCTCCCCTCCTGAGCCCGTCGCGGGTGTGGGGTCCTCCC CTCCTGAGCCCGTCGCGGGTGTGGGGGCCTCCCCTCCTGAGCCCGTCCCG GGTGTGGGGTCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGGGCCTCCCC TCCTGAGCCCGTCCCGGGTGTGGGGGCCTCCCCTCCTGAGCCCGTCGCGG GTGTGGGGGCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGGTCCTCCCCT CCTGAGCCCGTCGCGGGTGTGGGGGCCTCCCCTCCTGAGCCCGTCCCGGG TGTGGGGGCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGGGCCTCCCCTC CTGAGCCCGTCGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp1 NA20805.hp1 HG02965.hp1 HG03540.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0007 a0001c0001t0001 a0001c0001t0007 a0001c0003t0007	a0001c0001t0001g0255 a0001c0001t0007g0144 a0001c0003t0007g0135 a0001c0001t0001g0255 a0001c0001t0007g0144 a0001c0003t0007g0135	3	264	0.0114	363	c.199 others(384): Show c.1999-11176_1999-11175insCGCGACGGGCTCAGGAGGGGAGGC CCCCACACCCGGGACGGGCTCAGGAGGGGAGGCCCCCACACCCGGGACGG GCTCAGGAGGGGAGGCCCCCACACCCGCGACGGGCTCAGGAGGGGAGGAC CCCACACCCGGGACGGGCTCAGGAGGGGAGGCCCCCACACCCGCGACGGG CTCAGGAGGGGAGGCCCCCACACCCGGGACGGGCTCAGGAGGGGAGGCCC CCACACCCGGGACGGGCTCAGGAGGGGAGGACCCCACACCCGGGACGGGC TCAGGAGGGGAGGCCCCCACACCCGCGACGGGCTCAGGAGGGGAGGACCC CACACCCGCGACGGGCTCAGGAGGGGAGGACCCCACACC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MBP_chr18_76973833_77137783	77118015	T T	TGGGGACA others(356): Show TGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATG GGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGG GACAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGCGGGATGGGG ACAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGCGGGATGGGGA CAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACA GTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGG GTTGGGGCGGGATG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	396	0.0025	363	c.-25 others(382): Show c.-25-12730_-25-12729insCATCCCGCCCCAACCCCCTGTCCCCG TCCCACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTCCCCATC CCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC GCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGC CCCAACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCGCC CCAACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCC CAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCA ACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(356): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGAGTGGGATGGGG ACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGA CAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0197 a0001c0002t0012g0197	1	396	0.0025	363	c.-25 others(382): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACT CCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAA CCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCACCCCAAC CCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCGCCCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(356): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGA TGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGAGTGGGATGGGG ACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGA CAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01071.hp1 HG01175.hp2 others(2): Show HG00733.hp2 HG01071.hp1 HG01175.hp2 HG01255.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0003t0025 a0001c0001t0003 a0001c0001t0004 a0001c0003t0025	a0001c0001t0003g0026 a0001c0001t0003g0201 a0001c0001t0004g0107 others(2): Show a0001c0001t0003g0026 a0001c0001t0003g0201 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0003t0025g0245	5	396	0.0126	363	c.-25 others(382): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACT CCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAA CCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCGCCCCAAC CCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(356): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGAGTGGGACGGGG ACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGA CAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0278 a0001c0001t0014g0278	1	396	0.0025	363	c.-25 others(382): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCGTCCCACT CCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAA CCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCACCCCAAC CCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(356): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGAGTGGGATGGGG ACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGA CAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01069.hp1 others(15): Show HG00597.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG02015.hp1 HG02165.hp1 HG02300.hp2 HG02735.hp2 HG04115.hp2 NA18943.hp2 NA19005.hp2 NA19010.hp1 NA19079.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0011 a0001c0001 a0001c0002 a0007c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0007c0011t0005	a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0003g0074 others(14): Show a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0003g0074 a0001c0001t0004g0020 a0001c0001t0004g0023 a0001c0001t0005g0001 a0001c0001t0005g0234 a0001c0001t0005g0236 a0001c0001t0005g0277 a0001c0001t0006g0299 a0001c0001t0010g0021 a0001c0001t0014g0268 a0001c0001t0015g0343 a0001c0002t0002g0237 a0001c0002t0004g0111 a0001c0002t0007g0379 a0007c0011t0005g0269	18	396	0.0455	363	c.-25 others(382): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACT CCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAA CCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCACCCCAAC CCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(356): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGAGTGGGATGGGG ACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGA CAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	396	0.0025	363	c.-25 others(382): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACT CCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCACCCCAAC CCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(356): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGAT GGGGACAGTGGGTTGGGGAGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGACGGGGACAGTGGGTTGGAGTGGGACGGGG ACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGA CAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02486.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0029 a0001c0001t0029 a0001c0002t0029	a0001c0001t0029g0394 a0001c0002t0029g0393 a0001c0001t0029g0394 a0001c0002t0029g0393	2	396	0.0051	363	c.-25 others(382): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCGTCCCACT CCAACCCACTGTCCCCGTCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCTCCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAAC CCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(356): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGAT GGGGACAGTGGGTTGGGGAGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGACGGGGACAGTGGGTTGGAGTGGGACGGGG ACAGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGA CAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01952.hp2 HG02055.hp2 others(6): Show HG01243.hp2 HG01952.hp2 HG02055.hp2 HG02293.hp2 HG02622.hp1 HG02630.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0004c0008t0012	a0001c0001t0001g0075 a0001c0001t0001g0139 a0001c0001t0001g0164 others(6): Show a0001c0001t0001g0075 a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0006g0329 a0001c0001t0011g0165 a0001c0001t0017g0166 a0001c0002t0001g0181 a0001c0002t0002g0309 a0004c0008t0012g0135	9	396	0.0227	363	c.-25 others(382): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCGTCCCACT CCAACCCACTGTCCCCGTCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCTCCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAAC CCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACC CACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MED12L_chr3_151080664_151441653	151267579	T T	TTAAAACA others(356): Show TTAAAACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	280	0.0036	363	c.225 others(384): Show c.2250+73927_2250+73928insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCTAAAACATTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MLIP_chr6_54106443_54271280	54251554	G G	GTATATAT others(356): Show GTATATATTTATATATATAATATATATTATATAATATATAATATATATTA TATAATATAAAATATATATTATATTATATTATATTATGTATTATATAATA TAATATATAATATTATATATTATAATATATATTATAATATATAATATATA ATATTATATATTATAATATATATTATATTATATAATATTATATATTATAT TATATAATACATAATATAATATAATATATTATATTATATAATATTATATA ATATATAATATTATATATTATATTATATATTATATATTATATTATATAAT ATATAATATTATATATATTATAACATAATATATAATATAAATATATATTA TAGCATATAATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0160 a0002c0003t0002g0160	1	248	0.0040	363	c.292 others(382): Show c.2923-5752_2923-5751insTATATTTATATATATAATATATATTA TATAATATATAATATATATTATATAATATAAAATATATATTATATTATAT TATATTATGTATTATATAATATAATATATAATATTATATATTATAATATA TATTATAATATATAATATATAATATTATATATTATAATATATATTATATT ATATAATATTATATATTATATTATATAATACATAATATAATATAATATAT TATATTATATAATATTATATAATATATAATATTATATATTATATTATATA TTATATATTATATTATATAATATATAATATTATATATATTATAACATAAT ATATAATATAAATATATATTATAGCATATAATATATA	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLIP_chr6_54106443_54271280	54251554	G G	GTATATAT others(356): Show GTATATATTTATATATATAATATATATTATATAATATATAATATATATTA TATAATATAAAATATATATTATATTATATTATATTATGTATTATATAATA TAATATATAATATTATATATTATAATATATATTATAATATATAATATATA ATATTATATATTATAATATATATTATATTATATAATATTATATATTATAT TATATAATATAATATATATATATATATAATATTATATATTATATAATATA TATATTATATAATTATATTATATATTATATATTATATTATATTTATATAT ATATAATATTATATATATTATAACATAATATATAATATAAATATATATTA TAGCATATAATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	248	0.0040	363	c.292 others(382): Show c.2923-5752_2923-5751insTATATTTATATATATAATATATATTA TATAATATATAATATATATTATATAATATAAAATATATATTATATTATAT TATATTATGTATTATATAATATAATATATAATATTATATATTATAATATA TATTATAATATATAATATATAATATTATATATTATAATATATATTATATT ATATAATATTATATATTATATTATATAATATAATATATATATATATATAA TATTATATATTATATAATATATATATTATATAATTATATTATATATTATA TATTATATTATATTTATATATATATAATATTATATATATTATAACATAAT ATATAATATAAATATATATTATAGCATATAATATATA	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLIP_chr6_54106443_54271280	54251554	G G	GTATATAT others(356): Show GTATATATTTATATATATAATATATATTATATAATATATAATATATATTA TATAATATAAAATATATATTATATTATATTATATTATGTATTATATAATA TAATATATAATATTATATATTATAATATATATTATAATATATAATATATA ATATTATATATTATAATATATATTATATTATATAATATTATATATTATAT TATATAATATATAATATAATATAATATATTATATTATATAATATTATATA ATATATAATATTATATATTATATTATATATTATATATTATATTATATAAT ATATAATATTATATATATTATAACATAATATATAATATAAATATATATTA TAGCATATAATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp1 HG01884.hp1 others(8): Show HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG02258.hp1 HG03017.hp2 HG03209.hp1 HG03486.hp2 HG03654.hp2 HG03669.hp2 NA19054.hp2	a0002 a0013 a0023 a0002 a0013 a0023	a0002c0003 a0002c0018 a0013c0014 others(1): Show a0002c0003 a0002c0018 a0013c0014 a0023c0026	a0002c0003t0002 a0002c0018t0002 a0013c0014t0002 others(1): Show a0002c0003t0002 a0002c0018t0002 a0013c0014t0002 a0023c0026t0002	a0002c0003t0002g0104 a0002c0003t0002g0117 a0002c0003t0002g0118 others(8): Show a0002c0003t0002g0104 a0002c0003t0002g0117 a0002c0003t0002g0118 a0002c0003t0002g0137 a0002c0003t0002g0139 a0002c0003t0002g0156 a0002c0003t0002g0157 a0002c0018t0002g0140 a0002c0018t0002g0141 a0013c0014t0002g0100 a0023c0026t0002g0158	11	248	0.0444	363	c.292 others(382): Show c.2923-5752_2923-5751insTATATTTATATATATAATATATATTA TATAATATATAATATATATTATATAATATAAAATATATATTATATTATAT TATATTATGTATTATATAATATAATATATAATATTATATATTATAATATA TATTATAATATATAATATATAATATTATATATTATAATATATATTATATT ATATAATATTATATATTATATTATATAATATATAATATAATATAATATAT TATATTATATAATATTATATAATATATAATATTATATATTATATTATATA TTATATATTATATTATATAATATATAATATTATATATATTATAACATAAT ATATAATATAAATATATATTATAGCATATAATATATA	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MSH4_chr1_75791882_75918242	75885668	T T	TATAATAT others(356): Show TATAATATATATTATATATTATATATTATAATATATATACCTGATATATT TAAGGTATTATATATAATACCTTATATATTATATATATAATACCTTATAA GGTATTATATATAATATTATATATTATATATAATATATATATTATATATA ATATATAAATGTATATATTATATATTATACATATATATTATATACATATA TTATATATAATATATATTTTATATATTATATATGTATATATGTAATATAT ATAACCTTCACATTTATTTCAGTTATATAATGTGAAGGTAATATATATAT GTTATTTTGTGTATATATAAAGTATTATATATAATGTATTATATATTATA TAGTATATATAGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02559.hp2 others(10): Show HG00639.hp1 HG01884.hp2 HG02559.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 others(10): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0042	13	332	0.0392	363	c.210 others(382): Show c.2107+1847_2107+1848insATAATATATATTATATATTATATATT ATAATATATATACCTGATATATTTAAGGTATTATATATAATACCTTATAT ATTATATATATAATACCTTATAAGGTATTATATATAATATTATATATTAT ATATAATATATATATTATATATAATATATAAATGTATATATTATATATTA TACATATATATTATATACATATATTATATATAATATATATTTTATATATT ATATATGTATATATGTAATATATATAACCTTCACATTTATTTCAGTTATA TAATGTGAAGGTAATATATATATGTTATTTTGTGTATATATAAAGTATTA TATATAATGTATTATATATTATATAGTATATATAGTA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(356): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATAATATATATTATATATAATATA TATACATATTATATATTATATATATAATATATATACATATTATATATTAT ATATAATATATATACATATTATATATTATATATATAATATATATACATAT TATATATTATATATAATATATATACATATTATATATAATATATATACATA TTATATTATATATAATATATATACATATTATATATAATATATAATATATT ACATATTATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	332	0.0030	363	c.262 others(382): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TAATATATATTATATATAATATATATACATATTATATATTATATATATAA TATATATACATATTATATATTATATATAATATATATACATATTATATATT ATATATATAATATATATACATATTATATATTATATATAATATATATACAT ATTATATATAATATATATACATATTATATTATATATAATATATATACATA TTATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(356): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATAATATA TATACATATTATATATAATATATATAATATATATACATATTATATATTAT ATATAATATATATACATATTATATATTATATATATAATATATATACATAT TATATATTATATATAATATATATACATATTATATATAATATATATACATA TTATATTATATATAATATATATACATATTATATATAATATATAATATATT ACATATTATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19080.hp1 NA19000.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0262 a0001c0001t0001g0196 a0001c0001t0001g0262	2	332	0.0060	363	c.262 others(382): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATAATATATATACATATTATATATAATATATATAA TATATATACATATTATATATTATATATAATATATATACATATTATATATT ATATATATAATATATATACATATTATATATTATATATAATATATATACAT ATTATATATAATATATATACATATTATATTATATATAATATATATACATA TTATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(356): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATAATATA TATACATATTATATATTATATATATAATATATATACATATTATATATAAT ATATAATATATATACATATTATATATTATATATATAATATATATACATAT TATATATTATATATAATATATATACATATTATATATAATATATATACATA TTATATTATATATAATATATATACATATTATATATAATATATAATATATT ACATATTATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03491.hp2 NA20752.hp1 HG02300.hp1 HG03491.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201	3	332	0.0090	363	c.262 others(382): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATAATATATATACATATTATATATTATATATATAA TATATATACATATTATATATAATATATAATATATATACATATTATATATT ATATATATAATATATATACATATTATATATTATATATAATATATATACAT ATTATATATAATATATATACATATTATATTATATATAATATATATACATA TTATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(356): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATAATATA TATACATATTATATATTATATATATAATATATATACATATTATATATTAT ATATAATATATATACATATTATATATTATATATATAATATATATACATAT TATATATTATATATAATATATATACACATTATATATAATATATATACATA TTATATTATATATAATATATATACATATTATATATAATATATAATATATT ACATATTATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0256 a0009c0012t0001g0256	1	332	0.0030	363	c.262 others(382): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATAATATATATACATATTATATATTATATATATAA TATATATACATATTATATATTATATATAATATATATACATATTATATATT ATATATATAATATATATACATATTATATATTATATATAATATATATACAC ATTATATATAATATATATACATATTATATTATATATAATATATATACATA TTATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(356): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATAATATA TATACATATTATATATTATATATATAATATATATACATATTATATATTAT ATATAATATATATACATATTATATATTATATATATAATATATATACATAT TATATATTATATATAATATATATACATATTATATATAATATATATACATA TTATATTATATATAATATATATACATATTATATATAATATATAATATATT ACATATTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp1 others(50): Show HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02602.hp2 HG02683.hp2 HG03492.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18984.hp1 NA18989.hp2 NA18993.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19066.hp2 NA19078.hp2 NA19089.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0007 a0001c0001 a0001c0002 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0005c0007t0001 a0001c0001t0001 a0001c0002t0001 a0005c0007t0001	a0001c0001t0001g0077 a0001c0001t0001g0181 a0001c0001t0001g0182 others(50): Show a0001c0001t0001g0077 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0002t0001g0271 a0005c0007t0001g0175 a0005c0007t0001g0179 a0005c0007t0001g0180 a0005c0007t0001g0222	53	332	0.1596	363	c.262 others(382): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATAATATATATACATATTATATATTATATATATAA TATATATACATATTATATATTATATATAATATATATACATATTATATATT ATATATATAATATATATACATATTATATATTATATATAATATATATACAT ATTATATATAATATATATACATATTATATTATATATAATATATATACATA TTATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(356): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAATTATAAGTTAT ATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAA CTTATAATTATAAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0033 a0033	a0033c0045 a0033c0045	a0033c0045t0001 a0033c0045t0001	a0033c0045t0001g0144 a0033c0045t0001g0144	1	284	0.0035	363	c.710 others(380): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATATAACTTATAATTA TAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTAT ATATTATAACTTATAAGTTATATATTATAACTTATAATTATAAATTATAT ATTATAACTTATAATTAAAAATTATAATATATAACTTATAATTATAAATT ATATATTATAAATTATAATATATAAATTATATATATATATTATAAATTTA TAATATATAAATTATATATTATAATTTATAATTTATAATTATAAATTATA TATTATAAATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(356): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTAATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATAAAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATTATATAATATATATTATATAAAATATATAT TATATTATATATAATATATATTTTATAAAATATATATTATATTATATAAT ATATATTTTATAAAATATATATTATATTATATATAATATATATTATATAA AATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	363	c.51 others(374): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATTAATATAATATATATTTTATATAATATATATT ATATATAATATAATATATATTTTATATAATATATATTATATATAATATAA TATATATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
NEU4_chr2_241804193_241822413	241805364	T T	TTCCCTCC others(356): Show TTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CTCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGTCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCC ACCTTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCTCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGATG TCTGCAGGCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	319	0.0031	363	c.-39 others(374): Show c.-3914_-3913insTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCCGCAGGCCACCCTC CCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGTCACCCTCCCTCCCCCCTCAACCCAG GGATGTCTGCAGGCCACCTTCCCTCCCTCCTCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC CTCCCTCCTCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGATGTCTGCAGGCCACCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3828		chr2	TogoVar

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