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
DEFB119_chr20_31372164_31395590	31394336	T T	TAAAAAAT others(308): Show TAAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02165.hp2 NA18612.hp1 HG00597.hp1 HG02165.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	3	370	0.0081	315	c.-38 others(326): Show c.-3854_-3853insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGTATTTTTT	DEFB119	ENSG00000180483.7	transcript	ENST00000376321.4	protein_coding		3747		chr20	TogoVar
DGKI_chr7_137376037_137851974	137609165	C C	CCCAGGGC others(308): Show CCCAGGGCTGACTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGT GAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp2 HG03098.hp2 others(4): Show HG01261.hp1 HG02280.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0016	a0001c0001t0016 a0001c0001t0017 a0001c0001t0036 others(4): Show a0001c0001t0016 a0001c0001t0017 a0001c0001t0036 a0001c0002t0033 a0001c0003t0006 a0001c0009t0050 a0001c0016t0044	a0001c0001t0016g0005 a0001c0001t0017g0001 a0001c0001t0036g0004 others(4): Show a0001c0001t0016g0005 a0001c0001t0017g0001 a0001c0001t0036g0004 a0001c0002t0033g0008 a0001c0003t0006g0041 a0001c0009t0050g0080 a0001c0016t0044g0074	7	94	0.0745	315	c.106 others(332): Show c.1069-102_1069-101insCCGGGCGCGGTGGCTCACGCCTGGAATC CCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCT CAAAAAAAAAAAAAAAAAAAAAAAGAGTCAGCCCTGG	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	9/32			chr7	TogoVar
DIP2C_chr10_269201_694668	516786	T T	TAGGGTGG others(308): Show TAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGT GGGGGGGGGACAGGGGGTTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGG GGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGGA CAGGGGGTAGGGTGGGGGGGACTACGGGGTAGGGTGGGGGGGACACGGGG TAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGGACAGGGGGTAGGG TGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGG GGGACAGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0058 a0001c0006t0002g0058	1	88	0.0114	315	c.86- others(332): Show c.86-30257_86-30256insCCCTACCCCCTGTCCCCCCCCACCCTAC CCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTG TCCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCC CCCACCCTACCCCGTAGTCCCCCCCACCCTACCCCCTGTCCCCCCCCCAC CCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACC CCCTGTCCCCCCCCACCCTAACCCCCTGTCCCCCCCCCACCCTACCCCGT GTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DKK2_chr4_106916802_107041313	106989675	T T	TAAAAATA others(308): Show TAAAAATAGCGTTGTACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGT CCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	218	0.0046	315	c.222 others(334): Show c.222+45694_222+45695insTTTCTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGTACAACGCTATTTTT	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DLGAP1_chr18_3491032_4460307	3669122	A A	ACAATTTC others(308): Show ACAATTTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGC TGGGACTACAGGCACGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG02280.hp1 others(2): Show HG00099.hp1 HG00639.hp2 HG02280.hp1 HG02280.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(1): Show a0001c0003 a0001c0004 a0001c0005 a0002c0007	a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0002c0007t0016	a0001c0003t0005g0048 a0001c0004t0001g0012 a0001c0004t0002g0035 others(2): Show a0001c0003t0005g0048 a0001c0004t0001g0012 a0001c0004t0002g0035 a0001c0005t0001g0052 a0002c0007t0016g0066	5	80	0.0625	315	c.159 others(336): Show c.1591+60012_1591+60013insGGCCGGGCGCGGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCAGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACTGAAATTG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	802015	C C	CGCACCCC others(308): Show CGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACAC ACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGGG TCCTCTGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTC CATCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCC TCACGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAACGGTCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	315	c.18+ others(332): Show c.18+64210_18+64211insGTCCTCACGGCCTGGGGAATGGTCCACA CACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACCCCT CCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGG GTCCTCTGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCT CCATCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTC CTCACGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCCTCCGTCCTCAC GGCCTGGGGAACGGTCTGCACCCCTCCTGGGCCCTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	802020	C C	CCCTCCTG others(308): Show CCCTCCTGGGTCCTCCGTCCTCACAGCCTGAGGAGCAGTCCGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGG CCCTCCATCCTCATGGCCTGGGGAATGGTCTGCACTCCTCCTGGGCCCTC CGTCCTCACGGCCTGGGGAACGATCTGCACCCCTCCTGGGCCCTCCATCC TCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAACGGTCCGCACCCCTCCTGGGCCCTCCATCCTCATGGCCTG GGGAATGGTCTGCACT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp2 HG03492.hp1 HG02071.hp2 HG02074.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0001 a0001c0002 a0001c0012 a0002c0001	a0001c0002t0009 a0001c0012t0004 a0002c0001t0007 a0001c0002t0009 a0001c0012t0004 a0002c0001t0007	a0001c0002t0009g0039 a0001c0012t0004g0036 a0002c0001t0007g0038 a0001c0002t0009g0039 a0001c0012t0004g0036 a0002c0001t0007g0038	3	40	0.0750	315	c.18+ others(332): Show c.18+64204_18+64205insTCCTCCGTCCTCACAGCCTGAGGAGCAG TCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCTGC ACCCCTCCTGGGCCCTCCATCCTCATGGCCTGGGGAATGGTCTGCACTCC TCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGATCTGCACCCCTCCTG GGCCCTCCATCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCC TCCGTCCTCACGGCCTGGGGAACGGTCCGCACCCCTCCTGGGCCCTCCAT CCTCATGGCCTGGGGAATGGTCTGCACTCCTCCTGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1215405	A A	AGGGTGCA others(308): Show AGGGTGCATCACCTGGAGACGTCCAGGTACCTGGATGGGTTCATTTGGGT GCATCACCTGGAGACGTCCAGGTACCTGGATGGGTTCATTTGGGTGCATC ACCTGGAGACGTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTG GAGACGTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGAC GTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCA GGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTAC CTGGATGGGTTCATTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03492.hp1 HG02074.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0020 a0002c0001t0007 a0002c0001t0020	a0002c0001t0007g0038 a0002c0001t0020g0024 a0002c0001t0007g0038 a0002c0001t0020g0024	2	40	0.0500	315	c.74- others(332): Show c.74-43369_74-43055dupGGATGGGTTCATTTGGGTGCATCACCTG GAGACGTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGAC GTCCAGGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCA GGTACCTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTAC CTGGATGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTACCTGGA TGGGTTCATTTGGGTGCATCACCTGGAGACGTCCAGGTACCTGGATGGGT TCATTTGGGTGCATCACCTGGAGACGTCCAGGTACCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAATAT others(308): Show AAAAATATATATATATATATATACACATACATATACATATATACACATAC ATATACATATATACACATACATATACATATATACACATACATATATATAC ACATATATATATACATATATATATACGTATATATATATACGTGTATATAT ATATACATATATATATATACGTGTGTATATATATACACATATATATATAC ACGTATATATATACACATATATATATATACACATATATATATATACACAT ATATATATATACACACATATATATATACACATATATATATATATACACAT ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	266	0.0038	315	c.730 others(334): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATGTGTGTATATATATATATGTGTATAT ATATATATGTGTATATATATATATGTGTATATATATACGTGTATATATAT ATGTGTATATATATACACACGTATATATATATATGTATATATATATACAC GTATATATATATACGTATATATATATGTATATATATATGTGTATATATAT GTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTAT ATATGTATATGTATGTGTATATATATATATATATATTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH7_chr2_195732703_196073837	195887156	T T	TAAAAAGC others(308): Show TAAAAAGCTTGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG03486.hp2 others(3): Show HG02809.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA21309.hp2	a0012 a0040 a0012 a0040	a0012c0011 a0040c0071 a0012c0011 a0040c0071	a0012c0011t0003 a0040c0071t0003 a0012c0011t0003 a0040c0071t0003	a0012c0011t0003g0024 a0012c0011t0003g0025 a0012c0011t0003g0026 others(3): Show a0012c0011t0003g0024 a0012c0011t0003g0025 a0012c0011t0003g0026 a0012c0011t0003g0027 a0012c0011t0003g0029 a0040c0071t0003g0090	6	256	0.0234	315	c.540 others(332): Show c.5407-885_5407-884insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCTGCAAGCTTTTT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	33/64			chr2	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(308): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0052 a0003c0052	a0003c0052t0039 a0003c0052t0039	a0003c0052t0039g0019 a0003c0052t0039g0019	1	210	0.0048	315	c.131 others(334): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(308): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp1 others(12): Show HG00323.hp1 HG00639.hp2 HG00642.hp1 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG02083.hp1 HG02165.hp1 HG02280.hp1 HG02523.hp2 HG03669.hp2 HG03704.hp2 NA18956.hp1 NA18981.hp2 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0011 a0002c0006 a0002c0007 others(3): Show a0001c0011 a0002c0006 a0002c0007 a0002c0010 a0002c0013 a0005c0047	a0001c0011t0007 a0001c0011t0079 a0002c0006t0001 others(10): Show a0001c0011t0007 a0001c0011t0079 a0002c0006t0001 a0002c0006t0002 a0002c0006t0040 a0002c0007t0014 a0002c0007t0035 a0002c0007t0042 a0002c0007t0062 a0002c0007t0063 a0002c0010t0070 a0002c0013t0003 a0005c0047t0008	a0001c0011t0007g0051 a0001c0011t0079g0125 a0002c0006t0001g0049 others(12): Show a0001c0011t0007g0051 a0001c0011t0079g0125 a0002c0006t0001g0049 a0002c0006t0001g0087 a0002c0006t0002g0058 a0002c0006t0002g0110 a0002c0006t0040g0183 a0002c0007t0014g0016 a0002c0007t0035g0037 a0002c0007t0042g0186 a0002c0007t0062g0025 a0002c0007t0063g0129 a0002c0010t0070g0039 a0002c0013t0003g0158 a0005c0047t0008g0021	15	210	0.0714	315	c.131 others(334): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400013	T T	TCACCACC others(308): Show TCACCACCTCCTTCACCATCACCAGCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCTCCACCATCACCACCACTTCCTTCACCATCACCACCATCTTCACCG TCACCACCACCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCC ACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCTCCACCAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0114 a0002c0114	a0002c0114t0001 a0002c0114t0001	a0002c0114t0001g0015 a0002c0114t0001g0015	1	256	0.0039	315	c.323 others(332): Show c.3234+761_3234+762insTCCTTCACCATCACCAGCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATC TTCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCACCATCAC CACCATCTTCACCGTCACCACCACCTCCACCACCACCACCTCCTCCACCA CCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCACCTCCACCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400229	C C	CCACCATC others(308): Show CCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATC ACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTC CACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCAC CTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCAGCATCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp2 NA19010.hp1 HG00609.hp2 HG01081.hp2 NA19010.hp1	a0002 a0003 a0017 a0002 a0003 a0017	a0002c0007 a0003c0004 a0017c0124 a0002c0007 a0003c0004 a0017c0124	a0002c0007t0001 a0003c0004t0001 a0017c0124t0001 a0002c0007t0001 a0003c0004t0001 a0017c0124t0001	a0002c0007t0001g0194 a0003c0004t0001g0160 a0017c0124t0001g0205 a0002c0007t0001g0194 a0003c0004t0001g0160 a0017c0124t0001g0205	3	256	0.0117	315	c.323 others(332): Show c.3234+983_3234+984insTCCTTCACCATCACCATCACCACCACCT CCACTATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCAGCATCTTCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK6_chr18_69395888_69854087	69492816	T T	TTGGTGGG others(308): Show TTGGTGGGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01517.hp1 HG02055.hp1 others(8): Show HG01261.hp2 HG01517.hp1 HG02055.hp1 HG02155.hp2 HG02280.hp1 HG02630.hp1 HG02735.hp1 HG04204.hp2 HG06807.hp2 NA19005.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0040 a0001c0001t0063 a0001c0002t0002 a0001c0002t0076 a0001c0002t0081 a0001c0003t0002	a0001c0001t0001g0121 a0001c0001t0001g0146 a0001c0001t0002g0113 others(8): Show a0001c0001t0001g0121 a0001c0001t0001g0146 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0004g0107 a0001c0001t0040g0153 a0001c0001t0063g0036 a0001c0002t0002g0106 a0001c0002t0076g0041 a0001c0002t0081g0163 a0001c0003t0002g0111	11	170	0.0647	315	c.67- others(332): Show c.67-71657_67-71656insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGTGTGAGCCACCGCGCCCGGCCTGGTGGGCTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DUSP14_chr17_37484891_37518498	37509885	C C	CAAGAACA others(308): Show CAAGAACACCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAACATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0073 a0001c0004t0015g0073	1	421	0.0024	315	c.-18 others(332): Show c.-180-781_-180-780insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAACATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACACCTC	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
EARS2_chr16_23515754_23562350	23521764	T T	TGACCACT others(308): Show TGACCACTCACTTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0036 a0001c0003t0024g0036	1	286	0.0035	315	c.26 others(326): Show c.2606_*2607insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAACAAAGTGAGTGGTC	EARS2	ENSG00000103356.18	transcript	ENST00000449606.7	protein_coding	9/9	2606		chr16	TogoVar
EFEMP1_chr2_55860967_55928782	55873983	T T	TAAAAACA others(308): Show TAAAAACACCTTGACCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCATTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp1 NA20129.hp1 HG03041.hp2 HG03195.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0001c0002t0006 a0003c0005t0001 a0001c0002t0001 a0001c0002t0006 a0003c0005t0001	a0001c0002t0001g0272 a0001c0002t0006g0071 a0003c0005t0001g0273 a0001c0002t0001g0272 a0001c0002t0006g0071 a0003c0005t0001g0273	3	350	0.0086	315	c.100 others(332): Show c.1000+962_1000+963insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGGTCAAGGTGTTTTT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EGF_chr4_109907883_110018766	110013803	G G	GCCTTGAT others(308): Show GCCTTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02559.hp1 HG02809.hp1 others(6): Show HG00621.hp2 HG02559.hp1 HG02809.hp1 NA18956.hp1 NA18978.hp2 NA18985.hp1 NA19000.hp1 NA19043.hp2 NA19054.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0018 a0020 a0026	a0001c0001 a0004c0004 a0005c0005 others(3): Show a0001c0001 a0004c0004 a0005c0005 a0018c0023 a0020c0029 a0026c0020	a0001c0001t0003 a0004c0004t0003 a0004c0004t0010 others(4): Show a0001c0001t0003 a0004c0004t0003 a0004c0004t0010 a0005c0005t0038 a0018c0023t0045 a0020c0029t0031 a0026c0020t0010	a0001c0001t0003g0075 a0004c0004t0003g0008 a0004c0004t0003g0307 others(6): Show a0001c0001t0003g0075 a0004c0004t0003g0008 a0004c0004t0003g0307 a0004c0004t0010g0057 a0004c0004t0010g0262 a0005c0005t0038g0289 a0018c0023t0045g0252 a0020c0029t0031g0235 a0026c0020t0010g0285	9	388	0.0232	315	c.23 others(326): Show c.2348_*2349insCCTTGATTTCTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGC	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding		38		chr4	TogoVar
EHD4_chr15_41890933_41977557	41958698	C C	CAAATGCT others(308): Show CAAATGCTGGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19064.hp2 NA18983.hp2 NA19064.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0017 a0001c0007t0017	a0001c0007t0017g0035 a0001c0007t0017g0036 a0001c0007t0017g0035 a0001c0007t0017g0036	2	360	0.0056	315	c.237 others(332): Show c.237-4759_237-4758insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTACTCCAGCATTT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	1/5			chr15	TogoVar
EIF3B_chr7_2349827_2385745	2378347	T T	TGGTGTCA others(308): Show TGGTGTCATGGAGGAAGGAACAGGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGA CCCTGGGTGTCGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGT TCTGTGAATGACCCTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0336 a0001c0001t0009g0336	1	384	0.0026	315	c.215 others(332): Show c.2155-304_2155-303insATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAACAGGCGAGCGCTCCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(308): Show CGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAACGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTC CGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0004 a0004c0008t0004g0004	1	288	0.0035	315	c.190 others(334): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(308): Show CGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTC CGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20129.hp1 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0284 a0001c0005t0004g0285 a0001c0005t0004g0284 a0001c0005t0004g0285	2	288	0.0069	315	c.190 others(334): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAACCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(308): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAACGT AAAGGTTTATTTCCAGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTC CGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0273 a0001c0003t0001g0273	1	288	0.0035	315	c.190 others(334): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCAGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAC GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(308): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAACCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATC AGAAATGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAACCAATCGATCAGAAATGTAAAGGTTTATTTC CGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0214 a0001c0003t0001g0214	1	288	0.0035	315	c.190 others(334): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATCAGAAAT GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAACCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGA TCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(308): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAACCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTC CAGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	1	288	0.0035	315	c.190 others(334): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAT GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAACCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAATGTAAAGGTTTATTTCCAGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99923639	C C	CGTTGAAT others(308): Show CGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAATGT AAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACACT TTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACT CAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATC AGAAACGTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCA ATGACACTTTTGTCAAAAATCAATCGATCAGAAATGTAAAGGTTTATTTC CGGATACTCAGTTCTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0241 a0001c0007t0018g0241	1	288	0.0035	315	c.190 others(334): Show c.1909+2762_1909+2763insGTTGAATTATCAATGACACTTTTGTC AAAAATCAATCGATCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTC TGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGATCAGAAAT GTAAAGGTTTATTTCCGGATACTCAGTTCTGCGTTGAATTATCAATGACA CTTTTGTCAAAAATCAATCGATCAGAAACGTAAAGGTTTATTTCCGGATA CTCAGTTCTGCGTTGAATTATCAATGACACTTTTGTCAAAAATCAATCGA TCAGAAATGTAAAGGTTTATTTCCGGATACTCAGTTCTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
EML1_chr14_99788413_99947060	99927838	T T	TGGTGGTG others(308): Show TGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGGGGTGGGGGTG GGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	288	0.0035	315	c.190 others(334): Show c.1909+6968_1909+6969insGTAGTGGTAGTAGTGGTGGCGGTGGT GGTGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(308): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03239.hp2 HG02738.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0082 a0001c0001t0001g0101	2	428	0.0047	315	c.83+ others(328): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41_chr1_28909569_29125041	29055652	T T	TAGAAAAT others(308): Show TAGAAAATAACTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	312	0.0032	315	c.184 others(334): Show c.1845+2355_1845+2356insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAGAAAATAACTATGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(308): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18998.hp2 NA18969.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0113 a0001c0001t0005g0122 a0001c0001t0002g0113 a0001c0001t0005g0122	2	312	0.0064	315	c.231 others(334): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX1_chr1_225805124_225850563	225807892	C C	CAAAAATT others(308): Show CAAAAATTAGCTGGGTGTGAGGCCGGGCGCGGTGGCTCACACCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0287 a0001c0003t0001g0287	1	422	0.0024	315	c.-22 others(326): Show c.-2283_-2282insAAAAATTAGCTGGGTGTGAGGCCGGGCGCGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding		2231		chr1	TogoVar
EPS15_chr1_51349263_51524266	51509246	T T	TTCATATT others(308): Show TTCATATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp2 HG02630.hp1 NA19240.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0038 a0002c0001t0004g0039 a0002c0001t0004g0038 a0002c0001t0004g0039	2	152	0.0132	315	c.33+ others(330): Show c.33+9952_33+9953insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAATATGA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
ERBB4_chr2_211370717_212543802	211843607	T T	TAAAAATG others(308): Show TAAAAATGTTTTTCTAGACATCCTTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCAAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	56	0.0179	315	c.422 others(334): Show c.422-55449_422-55448insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAAGGATGTCTAGAAAAACATTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211843607	T T	TAAAAATG others(308): Show TAAAAATGTTTTTCTAGACATCCTTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp2 HG03516.hp2 others(3): Show HG02922.hp1 HG03471.hp2 HG03516.hp2 HG03834.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0026 a0001c0002t0001 a0001c0004t0021	a0001c0001t0002g0016 a0001c0001t0005g0044 a0001c0001t0014g0007 others(3): Show a0001c0001t0002g0016 a0001c0001t0005g0044 a0001c0001t0014g0007 a0001c0001t0026g0052 a0001c0002t0001g0036 a0001c0004t0021g0009	6	56	0.1071	315	c.422 others(334): Show c.422-55449_422-55448insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAAGGATGTCTAGAAAAACATTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211843607	T T	TAAAAATG others(308): Show TAAAAATGTTTTTCTAGACATCCTTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG02145.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0045 a0001c0002t0001g0020 a0001c0001t0001g0045 a0001c0002t0001g0020	2	56	0.0357	315	c.422 others(334): Show c.422-55449_422-55448insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAAGGATGTCTAGAAAAACATTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERICH6_chr3_150654885_150708920	150681056	T T	TAAGATAT others(308): Show TAAGATATAATTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp1 NA20129.hp1 HG02572.hp1 HG03225.hp1 NA20129.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0001c0005 a0020c0020 a0001c0001 a0001c0005 a0020c0020	a0001c0001t0001 a0001c0005t0001 a0020c0020t0001 a0001c0001t0001 a0001c0005t0001 a0020c0020t0001	a0001c0001t0001g0029 a0001c0005t0001g0027 a0020c0020t0001g0015 a0001c0001t0001g0029 a0001c0005t0001g0027 a0020c0020t0001g0015	3	348	0.0086	315	c.883 others(330): Show c.883-127_883-126insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGTGAATTATATCTT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	7/13			chr3	TogoVar
ERP44_chr9_99974185_100104000	100087012	T T	TAAAAAAA others(308): Show TAAAAAAAAAAACTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02559.hp2 others(2): Show HG02258.hp1 HG02280.hp1 HG02559.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0083 a0001c0001t0003g0091 a0001c0001t0004g0111 others(2): Show a0001c0001t0003g0083 a0001c0001t0003g0091 a0001c0001t0004g0111 a0001c0001t0004g0213 a0001c0001t0004g0214	5	220	0.0227	315	c.57+ others(332): Show c.57+11771_57+11772insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAAAGTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESF1_chr20_13709325_13789919	13723498	T T	TCCTAGAT others(308): Show TCCTAGATGATATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTTTAG TAGAGACGGAGTTTCACTGTGTTATCCAGGATGGTCTCGATCTCCTGAAC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG02257.hp2 others(5): Show HG00423.hp2 HG00597.hp2 HG02257.hp2 HG02559.hp1 HG02965.hp1 HG03209.hp1 NA19010.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0004 a0001c0001 a0001c0007 a0003c0004	a0001c0001t0002 a0001c0007t0002 a0003c0004t0002 a0001c0001t0002 a0001c0007t0002 a0003c0004t0002	a0001c0001t0002g0238 a0001c0007t0002g0015 a0001c0007t0002g0237 others(4): Show a0001c0001t0002g0238 a0001c0007t0002g0015 a0001c0007t0002g0237 a0003c0004t0002g0125 a0003c0004t0002g0337 a0003c0004t0002g0338 a0003c0004t0002g0343	8	390	0.0205	315	c.203 others(334): Show c.2039-4515_2039-4514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGA TCGAGACCATCCTGGATAACACAGTGAAACTCCGTCTCTACTAAAAATAC AAAAAAATAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAATATCATCTAGG	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	11/13			chr20	TogoVar
ESYT2_chr7_158725997_158834509	158803879	C C	CCGAGAAG others(308): Show CCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCACGGAGAAGGGTGAGG CGCGCGACAAACCCAAACTGTTGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCACGGAGAAGGG TGAGGCGCGCGACAAACCCAAACTGTTGAGAAGGGTGAGGCGCGCGACAA ACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAG AAGGGTGAGGCGCGCGACAAACCCAAACCACGGAGAAGGGTGAGGCGCGC GACAAACCCAAACTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0177 a0002c0002t0006g0177	1	370	0.0027	315	c.331 others(332): Show c.331-4808_331-4807insACAGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCCGTGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGACGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTGGGTTTGTCGCGCGCC TCACCCTTCTCAACAGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCCGTG GTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTGGGTTTGTCGC GCGCCTCACCCTTCTCAACAGTTTGGGTTTGTCGCGCGCCTCACCCTTCT CCGTGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(308): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCCCACCCCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03017.hp1 NA18951.hp2 others(4): Show HG02129.hp1 HG03017.hp1 NA18951.hp2 NA18999.hp1 NA19007.hp1 NA19007.hp2 NA19066.hp2	a0001 a0002 a0025 a0001 a0002 a0025	a0001c0001 a0002c0002 a0025c0014 a0001c0001 a0002c0002 a0025c0014	a0001c0001t0001 a0002c0002t0001 a0025c0014t0001 a0001c0001t0001 a0002c0002t0001 a0025c0014t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0057 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0070 a0002c0002t0001g0076 a0025c0014t0001g0074	7	82	0.0854	315	c.218 others(332): Show c.2184+997_2184+998insCGGGGTGGGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGCGTCGGCAGAGCATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAAT CCCTCGTGGGTCTGGGGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGG GGTGGGGTGTCGGCAGAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGAC AGAGCATCCCTCGTGGGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGT CCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355710	A A	AGGAAGGA others(308): Show AGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGG AGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGAAAGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAA AGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	82	0.0122	315	c.757 others(330): Show c.757+557_757+558insGCCTTCCTCCCTTTCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCT TCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTC TCCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCC TCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC6_chr10_92843520_93064490	92860873	T T	TGCGTCCT others(308): Show TGCGTCCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	288	0.0035	315	c.101 others(334): Show c.101+12252_101+12253insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGGCGTCCTCCTTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXPH5_chr11_108500435_108598768	108586574	C C	CCCCCTTT others(308): Show CCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTT CCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTC CCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCC CCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCT CCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCC CATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCT TTCCTCCCTCCCCCAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0021 a0021	a0021c0018 a0021c0018	a0021c0018t0019 a0021c0018t0019	a0021c0018t0019g0022 a0021c0018t0019g0022	1	314	0.0032	315	c.119 others(332): Show c.119+6843_119+6844insATGGGGGAGGGAGGAAAGGGGATGGGGG AGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGA AAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGAT GGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGG GAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAG GGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGG GGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
FAM184A_chr6_118954763_119083664	119072883	A A	ATACAATT others(308): Show ATACAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0139 a0001c0003t0001g0140	2	286	0.0070	315	c.159 others(332): Show c.159+5257_159+5258insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATTGTA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	1/17			chr6	TogoVar
FARS2_chr6_5256513_5776583	5525242	T T	TTGGTGTA others(308): Show TTGGTGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCTGGCCCA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	170	0.0059	315	c.905 others(334): Show c.905-19937_905-19936insGGTGTATTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169523993	T T	TAGACCCT others(308): Show TAGACCCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02615.hp2 others(4): Show HG02055.hp1 HG02280.hp1 HG02615.hp2 HG02723.hp2 HG03098.hp1 HG03139.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0001 a0002c0003t0001 a0001c0006t0001 a0002c0003t0001	a0001c0006t0001g0155 a0001c0006t0001g0302 a0001c0006t0001g0304 others(4): Show a0001c0006t0001g0155 a0001c0006t0001g0302 a0001c0006t0001g0304 a0001c0006t0001g0305 a0001c0006t0001g0306 a0001c0006t0001g0307 a0002c0003t0001g0021	7	392	0.0179	315	c.58 others(326): Show c.5831_*5832insGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAGAGGGTCT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		4514		chr2	TogoVar
FAT1_chr4_186582794_186728856	186651508	T T	TAAAAATC others(308): Show TAAAAATCTTTCATGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGCGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0275 a0001c0020t0002g0275	1	338	0.0030	315	c.358 others(336): Show c.3581-11726_3581-11725insTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCCGGGACCACAGGCGCGCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCTCATGAAAGATTTTT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	3/26			chr4	TogoVar
FAT3_chr11_92219818_92901473	92875311	T T	TAAGATCC others(308): Show TAAGATCCTAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0042 a0006c0004t0042	a0006c0004t0042g0116 a0006c0004t0042g0116	1	118	0.0085	315	c.121 others(336): Show c.12128-5406_12128-5405insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAGATCCTAGACAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBP1_chr9_94598133_94644518	94625120	T T	TTAAAGTG others(308): Show TTAAAGTGAGAAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA20752.hp1 HG01074.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0206 a0001c0002t0001g0179 a0001c0002t0001g0206	2	358	0.0056	315	c.171 others(332): Show c.171-4630_171-4629insTTTTATTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGCTTCTCACTTTA	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	1/6			chr9	TogoVar

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