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
DOCK8_chr9_209865_470255	400826	A A	ACCACCAC others(371): Show ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCA CCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTC ACCATCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCGTCACCACCTTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0098 a0002c0098	a0002c0098t0002 a0002c0098t0002	a0002c0098t0002g0121 a0002c0098t0002g0121	1	224	0.0045	378	c.323 others(397): Show c.3234+1567_3234+1568insCCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCAC CTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCTCCACCA CCACCACCACCTCCACCATCACCACCACCACCACCACCACCACTTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCAC CTCCACCACCACCACCACCTCCACCATCACCACCACCACCACCACCACCA CTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACC ACCACCACCTCCACCACCACCACCACCTCCACCACCACCGTCACCACCTT CT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634556	T T	TCCTTTCC others(371): Show TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0164 a0002c0002t0003g0164	1	158	0.0063	378	c.105 others(395): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556316	A A	AGTATATA others(371): Show AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATA TAGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATA GTGTATATAGTATATATATAGTATATATATAGTGTATATAGTATATATAT AGTATATATATAGTATATATAGTATATATATGTATATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	297	0.0034	378	c.355 others(397): Show c.355-25653_355-25652insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TGTATATATATAGTATATATATAGTGTATATAGTATATATATAGTATATA TATAGTGTATATAGTATATATATAGTATATATATAGTATATATAGTATAT ATATGTATATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATATATAGTATATATATA GT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(371): Show ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTGTATATATATAGTATATATATAGTGTA TATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0126 a0001c0003t0020g0126	1	248	0.0040	378	c.355 others(397): Show c.355-25620_355-25619insGTATATATATAGTATATATATAGTAT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATATAGTGTATATATATAG TATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATA TATAGTATATATGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716361	G G	GTGTTGGT others(371): Show GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	88	0.0114	378	c.86- others(391): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAA GTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2377676	G G	GCGAGCGC others(371): Show GCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGG AAGGAGAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	366	0.0027	378	c.215 others(395): Show c.2154+616_2154+617insAGCCGTGTTGTGTGAATGACCCTGGGTG TCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGA GAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(371): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	27	0.0370	378	c.145 others(395): Show c.145+3496_145+3497insCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCC CCACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(371): Show CGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCC CACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	27	0.0370	378	c.145 others(395): Show c.145+3436_145+3437insGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGG ACAGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGG GGGCTGACCCCCCCACCTCCCTTCCGGACGGGCGGCTGGCCGGGTGGGGG GATGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGG GCTGACCTCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGG	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIPR1_chr2_3183970_3382818	3221202	A A	ACACTCAC others(371): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	243	0.0041	378	c.417 others(395): Show c.417-6955_417-6954insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(371): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG00741.hp2 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0218 a0001c0001t0003g0198 a0001c0001t0003g0218	2	198	0.0101	378	c.417 others(395): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(371): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18944.hp2 HG03540.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0178 a0001c0001t0003g0215 a0001c0001t0001g0178 a0001c0001t0003g0215	2	198	0.0101	378	c.417 others(395): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221335	C C	CGCACACA others(371): Show CGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAA CACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCG GGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGA GTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACA GTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACT CACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAG CACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCT AGAGCACTCACAGTGAGTCGGGAACACAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	248	0.0040	378	c.417 others(395): Show c.417-7088_417-7087insATGTGTTCCCGACTCACTGTGAGTGCTC TAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGT GCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGT GAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCA CTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGA CTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTC CCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGT GTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(371): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(18): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00621.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG02071.hp2 HG03017.hp1 HG03209.hp1 HG03704.hp1 HG03704.hp2 NA18747.hp2 NA18947.hp2 NA18970.hp1 NA19004.hp1 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(18): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0187 a0001c0001t0001g0216 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0091 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0196 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0242	21	152	0.1382	378	c.417 others(395): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(371): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18906.hp1 HG01515.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0052 a0001c0001t0003g0036 a0001c0001t0001g0052 a0001c0001t0003g0036	2	133	0.0150	378	c.417 others(395): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221472	G G	ACACTCAC others(371): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG02735.hp1 others(2): Show HG00733.hp1 HG00738.hp1 HG02735.hp1 HG03669.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0073 a0001c0001t0003g0015 a0001c0001t0003g0038 others(2): Show a0001c0001t0002g0073 a0001c0001t0003g0015 a0001c0001t0003g0038 a0001c0001t0003g0068 a0001c0001t0003g0117	5	156	0.0321	378	c.417 others(395): Show c.417-7224_417-7223insTCTAGAGTGTACCTCGGCCATTGTGTGC GTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGT GTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCA TTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCG GCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTAC CTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGT GTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTA GAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221688	G G	GCACTCAC others(371): Show GCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCCGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18945.hp1 NA18952.hp2 others(4): Show HG01074.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0082 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0219	7	240	0.0292	378	c.417 others(395): Show c.417-7441_417-7440insTTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCGGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221742	A A	GCACTCAC others(371): Show GCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCCGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCCGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAACACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	143	0.0070	378	c.417 others(395): Show c.417-7494_417-7493insTCTAGAGTGTACCTCGGCCATTGTGTGC GTGTGTTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTGT GTGCGTGTGTTCCGGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCA TTGTGTGCGTGTGTTCCGGACTCACTGTGAGTGCTCTAGAGTGTACCTCG GCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTAC CTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGT GTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTA GAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(371): Show AGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGAG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGA GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGATGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0046 a0001c0005t0008g0046	1	216	0.0046	378	c.190 others(397): Show c.1909+7092_1909+7093insAGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(371): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18957.hp2 NA18956.hp2 NA18957.hp2	a0001 a0017 a0001 a0017	a0001c0003 a0017c0033 a0001c0003 a0017c0033	a0001c0003t0002 a0017c0033t0001 a0001c0003t0002 a0017c0033t0001	a0001c0003t0002g0102 a0017c0033t0001g0074 a0001c0003t0002g0102 a0017c0033t0001g0074	2	75	0.0267	378	c.282 others(397): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(371): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0030 a0003c0012t0001g0030	1	141	0.0071	378	c.282 others(397): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAA AG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(371): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAA GTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0054 a0006c0054	a0006c0054t0001 a0006c0054t0001	a0006c0054t0001g0026 a0006c0054t0001g0026	1	141	0.0071	378	c.282 others(397): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTC TTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAA AG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(371): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCT TTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAA GTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0200 a0001c0006t0005g0200	1	141	0.0071	378	c.282 others(397): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTC TTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAA AG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(371): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGT ATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCT TTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAA GTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0150 a0003c0023t0001g0150	1	141	0.0071	378	c.282 others(397): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTC TTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAA AG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVC2_chr4_5557439_5713559	5706437	G G	GATACATA others(371): Show GATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACA TACATAGATAGATAGATACATACATACATACATACATACATACATAGATA CATAGATAGATAGATACATAGATACATAGATACATAGATAGATAGATACA TACATACATACATACATACATAGATACATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATACATAGATACATACATAGATAGATAGATACA TAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATAGATA GATAGACACATAGATAGATACATAGATAGATAGATAGATACATATAGATA GATAGATAGATACATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02145.hp1 HG02622.hp2	a0014 a0020 a0014 a0020	a0014c0059 a0020c0060 a0014c0059 a0020c0060	a0014c0059t0002 a0020c0060t0001 a0014c0059t0002 a0020c0060t0001	a0014c0059t0002g0051 a0020c0060t0001g0095 a0014c0059t0002g0051 a0020c0060t0001g0095	2	231	0.0087	378	c.228 others(395): Show c.228+1848_228+1849insGTATCTATCTATCTATGTATCTATCTAT CTATCTATATGTATCTATCTATCTATCTATGTATCTATCTATGTGTCTAT CTATCTATGTATCTATCTATCTATGTATCTATGTATCTATCTATCTATCT ATGTATCTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATCTATGTATGTATGTATGTATGT ATGTATCTATCTATCTATGTATCTATGTATCTATGTATCTATCTATCTAT GTATCTATGTATGTATGTATGTATGTATGTATGTATCTATCTATCTATGT ATGTATCTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706437	G G	GATACATA others(371): Show GATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACA TACATAGATAGATAGATACATACATACATACATACATACATACATAGATA CATAGATAGATAGATACATAGATACATAGATACATAGATAGATAGATACA TACATACATACATACATACATAGATACATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATACATAGATACATACATAGATAGATAGATACA TAGATAGATAGATAGATACATAGATACATAGATAGATAGATACATAGATA GATAGACACATAGATAGATACATAGATAGATAGATAGATACATATAGATA GATAGATAGATACATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02145.hp1 HG02622.hp2	a0004 a0004	a0004c0006 a0004c0014 a0004c0006 a0004c0014	a0004c0006t0015 a0004c0014t0006 a0004c0006t0015 a0004c0014t0006	a0004c0006t0015g0367 a0004c0014t0006g0368 a0004c0006t0015g0367 a0004c0014t0006g0368	2	294	0.0068	378	c.-49 others(389): Show c.-4944_-4943insATACATAGATAGATAGATAGATACATAGATAGAT AGATACATAGATACATACATAGATAGATAGATACATACATACATACATAC ATACATACATAGATACATAGATAGATAGATACATAGATACATAGATACAT AGATAGATAGATACATACATACATACATACATACATAGATACATAGATAG ATAGATAGATACATAGATAGATAGATAGATAGATACATAGATACATACAT AGATAGATAGATACATAGATAGATAGATAGATACATAGATACATAGATAG ATAGATACATAGATAGATAGACACATAGATAGATACATAGATAGATAGAT AGATACATATAGATAGATAGATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4763		chr4	TogoVar
FAM171A1_chr10_15206643_15376289	15229788	A A	ACTATCAC others(371): Show ACTATCACCAACATCATCATCATCACCATCACCATCATCACCATCACCAT CATCACCATTGTCACCCCCATCACCATCACCAACGTCATCATCATCACCA TCATCACCATCACCATCATCACCATTGTCACCCCCCTCACCATCATCACC ATCATCACCATTGTCACCCCCATCACCATCACCAACGTCATCATCATCAC CATCATCACCATCACCATCATCACCATTGTCACCCCCCTCACCATCATCA CCATCATCACCATTGTCACCCCCATCACCATCACCAACGTCATCATCATC ACCATCATCACCATCACCATCATCACCATTGTCACCCCCATCACCATCAT CACCATCACCATCATCACCATTGTCACCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01891.hp1 HG00140.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0010 a0001c0001t0002g0026	2	259	0.0077	378	c.755 others(395): Show c.755-8729_755-8728insGGGTGACAATGGTGATGATGGTGATGGT GATGATGGTGATGGGGGTGACAATGGTGATGATGGTGATGGTGATGATGG TGATGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGATGATG GTGATGATGGTGAGGGGGGTGACAATGGTGATGATGGTGATGGTGATGAT GGTGATGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGATGA TGGTGATGATGGTGAGGGGGGTGACAATGGTGATGATGGTGATGGTGATG ATGGTGATGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGAT GATGGTGATGGTGATGATGGTGATGGTGATGATGATGATGTTGGTGATAG	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FER1L6_chr8_123846987_124125061	123855977	A A	ATATGAGA others(371): Show ATATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACAT ATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATAT ACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGT ATATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATAT ATGTATATACATATGTGTATGAGATATATGTATATACATATGTGTATGAG ATATATGTATATACATATGTGTATGAGATATATGTATATACATATGTGTA TGAGATATATGTATATACATATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA21309.hp1 HG03579.hp2 NA21309.hp1	a0018 a0025 a0018 a0025	a0018c0053 a0025c0030 a0018c0053 a0025c0030	a0018c0053t0001 a0025c0030t0007 a0018c0053t0001 a0025c0030t0007	a0018c0053t0001g0145 a0025c0030t0007g0150 a0018c0053t0001g0145 a0025c0030t0007g0150	2	191	0.0105	378	c.-8+ others(393): Show c.-8+3818_-8+3819insGTATGAGATATATGTATATACATATGTGTA TGAGATATATGTATATACATATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATG TATATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATA TATGTATATACATATGTGTATGAGATATATGTATATACATATGTGTATGA GATATATGTATATACATATGTGTATGAGATATATGTATATACATATGT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FGFR4_chr5_177081915_177103144	177097127	C C	CTCCTCCT others(371): Show CTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCT CCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCTGC TCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTC TTCCTCCTTCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCT CCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCC TCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCT CCTCTTCCTCCTCCTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	370	0.0027	378	c.215 others(395): Show c.2154-157_2154-156insCTCTTCCTCCTCCTCCTCTTCCTCCTTC TCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTC CTCCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTT CCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCTTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTC CTTCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(371): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00642.hp2 others(30): Show HG00423.hp2 HG00438.hp1 HG00642.hp2 HG00673.hp1 HG01192.hp2 HG01257.hp2 HG01978.hp1 HG01993.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp2 HG02486.hp1 HG02523.hp2 HG02698.hp2 HG02723.hp1 HG03704.hp1 NA18522.hp2 NA18612.hp2 NA18956.hp2 NA18970.hp2 NA18981.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA19001.hp2 NA19007.hp2 NA19057.hp1 NA19058.hp2 NA19070.hp2 NA19080.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0008 a0002c0002t0002 a0001c0001t0002 a0001c0001t0008 a0002c0002t0002	a0001c0001t0002g0271 a0001c0001t0008g0066 a0002c0002t0002g0001 others(25): Show a0001c0001t0002g0271 a0001c0001t0008g0066 a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0213	33	256	0.1289	378	c.39 others(389): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCC GTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTC CCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCG TCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
GABRG3_chr15_26966181_27546984	27388157	A A	AGGAAAGG others(371): Show AGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAA GGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAAGAAGGAAGGAA AGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGTGGGAGGGAGGGTAAG GAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGGAAG GAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGTGGGAGGGAGGGTAAG GAAGGAAGGAAGGAAAGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0075 a0001c0004t0010g0075	1	80	0.0125	378	c.574 others(397): Show c.574+59270_574+59271insGAAAGGAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGG AGGGAGGGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGG AAGGAAGAAAAGAAGGAAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAG GAAAGGTGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAG GAAAGGAGGGAGGGAGGGGAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAG GAAAGGTGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAG GG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALR1_chr18_77244848_77282900	77252881	T T	TCACCACC others(371): Show TCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCATCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCACCATCAC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0014 a0001c0002t0017g0014	1	326	0.0031	378	c.666 others(395): Show c.666+1675_666+1676insTCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(371): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTG CCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCT GTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCC CCGTGCCGCCCCGCCCCTCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	243	0.0041	378	c.31 others(389): Show c.3138_*3139insGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCA GGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCA CACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCA CGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGCA CGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(371): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGC TGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGG CTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGG CCCCGTGCCGCCCCGCCCCTCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	243	0.0041	378	c.31 others(389): Show c.3138_*3139insGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCAGG GGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCACA CGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCACG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGGCA CGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GNG4_chr1_235542685_235654784	235587632	G G	GGATGTGT others(371): Show GGATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGG GGTAGGGGGTGAGAGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTG AGTGTGGGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGG GGGTGAGCATGAGTGTGGGAGGGTGTGGGGGTGAGAGCATGGGAGGGTGT GGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGGGTGAATGT GAGTGTGGGAGGGTGTAGGGTGGGGGTGTGAGTGTGGGAGGGTGTGGGGT GGGGTGTGTGAATGTGTGGGGTGGATGTGTGTGTGAGCGTGGGTTTGTGG GTGTGTGTCAGGGTGTGTGGTGTGGGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0142 a0001c0002t0058g0142	1	266	0.0038	378	c.-10 others(395): Show c.-10-3785_-10-3784insACACCCACACCACACACCCTGACACACA CCCACAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCC CACCCCACACCCTCCCACACTCACACCCCCACCCTACACCCTCCCACACT CACATTCACCCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCC CACACCCTCCCATGCTCTCACCCCCACACCCTCCCACACTCATGCTCACC CCCACCCCACACCCTCCCACACACTCACCCCACCCCACACCCTCCCACAC TCACACTCACCCCCACCCCACACCCTCCCACACTCACTCTCACCCCCTAC CCCACACCCAGACACACACCCACACACACCCATACTCTCACACACACATC	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATA others(371): Show TATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATTTATATTTATTTATAAATAAATATATATAAATATATATAAATATA TATTTATATTTATTTGTAAATAAATATATATAAATATATATAAATATATA TTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATT TATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATA TATATAAATATATATTTATATTTATTTATATATAAATATATAAATATATA TTTATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATTTA TATATAAATATATAAATCTATATATATAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18612.hp1 NA18522.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0027 a0001c0003t0002g0032 a0001c0003t0002g0027 a0001c0003t0002g0032	2	86	0.0233	378	c.-97 others(395): Show c.-97-2095_-97-2094insTAAATATATATTTATATTTATTTATAAA TAAATATATATAAATATATATTTATATTTATTTATAAATAAATATATATA AATATATATAAATATATATTTATATTTATTTGTAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATT TATTTATAAATAAATATATATAAATATATATTTATATTTATTTATATATA AATATATAAATATATATTTATAGTTATTTATATATAAATATATAAATATA TATTTATAGTTATTTATATATAAATATATAAATCTATATATATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	316049	C C	CACAGACA others(371): Show CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGC AGGGACACAAACATACACACGCAGACACACACACACACACACACACACAG TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC ATACGCAGACACACACACACACACACACACTAAATACATCCCGACAGGGA CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGC AGGGACACAAACACATACACACGCAGACACACACACACACACACACACAC ACACAGTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18964.hp1 HG00140.hp2 NA18964.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0003 a0004c0006t0001 a0004c0006t0003	a0004c0006t0001g0012 a0004c0006t0003g0014 a0004c0006t0001g0012 a0004c0006t0003g0014	2	149	0.0134	378	c.488 others(393): Show c.488-751_488-750insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATG TATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCT CTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAC TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTTTGTGTCCCTG CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322445	A A	ATATACAT others(371): Show ATATACATGGAATATATATATATAGAATATATACATGGAATATATATATG GAATATATACATGGAATATATATATATGGAATATATACATGGAATATATA CATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATA TACATGGAATATATATATATGGAACATATACGGAATATATATATGGAATA TATATACGGAATATATATATATGGAATATATATACGGAATATATATATGG AATATATATACGGAATATATATATATGGAATATATATACGGAATATATAT ATATGGAATATATATACGGAATATATATATGGAATATATATACGGAATAT GTATATGGAATATATATATATGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0186 a0002c0002t0006g0186	1	314	0.0032	378	c.-26 others(389): Show c.-2611_-2610insTATACATGGAATATATATATATAGAATATATACA TGGAATATATATATGGAATATATACATGGAATATATATATATGGAATATA TACATGGAATATATACATGGAATATATACATGGAACATATACATGGAATA TATACATGGAACATATACATGGAATATATATATATGGAACATATACGGAA TATATATATGGAATATATATACGGAATATATATATATGGAATATATATAC GGAATATATATATGGAATATATATACGGAATATATATATATGGAATATAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATGGAAT ATATATACGGAATATGTATATGGAATATATATATATGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2524		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132772087	T T	TGAAGAGT others(371): Show TGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCTGGCAGCCAC CCCATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCTGGCAG CCACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCCG GCAGCCGCTCCATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGC CACGGCAGCCGCCCCGTGAAGAGTGGGACGGACACTCAGCACTGACACGG AGGCCCCGGCAGCCGCCCCATGAAGAGTGGGACGGACACTCAGCACTGAC ACAGAGGCCACGGCAGCCGCCCCGTGAAGAGTGGGACGGACACTCAGCAC TGACACGGAGGCCCCGGCAGCCGCCCCGC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	196	0.0051	378	c.978 others(395): Show c.978-5553_978-5552insGGAGGCCCTGGCAGCCACCCCATGAAGA GTGGGACGGACACTCAGCACTGACACGGAGGCCCTGGCAGCCACCCCATG AAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCTC CATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCC GCCCCGTGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGC AGCCGCCCCATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCGCCCCGTGAAGAGTGGGACGGACACTCAGCACTGACACGGAG GCCCCGGCAGCCGCCCCGCGAAGAGTGGGACGGACACTCAGCACTGACAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(371): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0057 a0003c0005t0057	a0003c0005t0057g0073 a0003c0005t0057g0073	1	119	0.0084	378	c.258 others(395): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGA3_chr17_50051110_50095481	50086211	T T	TATATATA others(371): Show TATATATATTAGATTATATATTATATATTTATTATATATTAGATTATATA TATTATACATGTATAATATATATATTAGATTATATATATTATACATGTAT AATATATATATTAGATTATATATATTATACATGTATAATATATATTAGAT TATATATATTATACATGTATAATATATATATTAGATTATATATATTATAC ATGTATAATATATATATTAGATTATATATATTATACATGTATAATATATA TTAGATTATATATATTATACATGTATAATATATATTAGATTATATATATT ATACATGTATAATATATATTAGATTATATATATTATACATGTATAATATA TATTAGATTATATATATTATACATGTATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0038 a0001c0013t0015g0038	1	377	0.0027	378	c.292 others(397): Show c.2920-1513_2920-1512insTATATATTTATTATATATTAGATTAT ATATATTATACATGTATAATATATATATTAGATTATATATATTATACATG TATAATATATATATTAGATTATATATATTATACATGTATAATATATATTA GATTATATATATTATACATGTATAATATATATATTAGATTATATATATTA TACATGTATAATATATATATTAGATTATATATATTATACATGTATAATAT ATATTAGATTATATATATTATACATGTATAATATATATTAGATTATATAT ATTATACATGTATAATATATATTAGATTATATATATTATACATGTATAAT ATATATTAGATTATATATATTATACATGTATAATATATATTAGATTATAT AT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(371): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATATAATTCTATATATATAATATATATTATATATATAATTCTATATAT ATAATATATATTATATATATAATTCTATATATATAATATATATTATATAT ATAATTCTATATATAATATATATTATATATATAATTCTATATATAATATA TATTATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATAATTCTATATATATAATATATATTAT ATATAATTCTATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	4	0.2500	378	c.62- others(397): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATAATATATATTATATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATATAGAATTATATATA ATATATATTATATATAGAATTATATATATAATATATATTATATATAGAAT TATATATATAATATATATTATATATATAGAATTATATATATAATATATAT TATATATATAGAATTATATATATAATATATATTATATATATAGAATTATA TATATAATATATATTATATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATATAGAATTATATATA TA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(371): Show TTATCTATGTTATAGATATAGATATTATTATCTATATCTATAATATAGAT AATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATAT AGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATA ATATAGATAATATTATCTATATCTATAATATAGATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATAT CTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCT ATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATT ATCTATATTATAGATATTATCTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG06807.hp2 HG01884.hp1 HG06807.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0004 a0003c0023t0004	a0003c0023t0004g0407 a0003c0023t0004g0408 a0003c0023t0004g0407 a0003c0023t0004g0408	2	292	0.0068	378	c.480 others(393): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATCTATATTATAGATATAGATAATATTATCTATATT ATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTA TATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTA TCTATATTATAGATATAGATAATAATATCTATATCTATAACATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240812875	A A	ACTCGGGG others(371): Show ACTCGGGGATCAGCCTTCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCAA GGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCCTTC ACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCAGGG ATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTCACC TCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAGCCT TCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGGGAT CCGCCTTCACCTCGGGGATCCGCCTTCAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0019 a0001c0005t0007g0019	1	148	0.0068	378	c.-61 others(395): Show c.-61+7246_-61+7247insGTGAAGGCGGATCCCCGAGGTGAAGGCG GATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTG AAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAG AGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGG TGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATC CTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAG GCGGATCCCCGAGGTGAAGGCGGATCCCCGAGTGAAGGCTGATCCCCGAG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF26A_chr14_104133587_104185894	104153434	G G	GCCCCACC others(371): Show GCCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACC CTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCAC GAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCC TCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCC CCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCC GAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCA CCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCC ACGAGGTGCCTCCTGGCCCCAGAGCTGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG02055.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0003 a0001c0002t0001 a0001c0015t0003	a0001c0002t0001g0023 a0001c0015t0003g0021 a0001c0002t0001g0023 a0001c0015t0003g0021	2	370	0.0054	378	c.735 others(393): Show c.735+987_735+988insTGAGGTGCCTCCTGGCCCCAGAGCCGAACC CCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTT GCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAG GTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCC TGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCA GAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGAACCCC others(371): Show CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGA GCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACC CCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTT GCCATGAGGTGCCTCCTGGCCCCAGAGCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0039 a0039	a0039c0056 a0039c0056	a0039c0056t0003 a0039c0056t0003	a0039c0056t0003g0157 a0039c0056t0003g0157	1	110	0.0091	378	c.735 others(395): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTG AACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCAC CCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF3B_chr20_32272651_32340011	32322987	T T	TATACATT others(371): Show TATACATTTATATACATATTTATATATACATTTATATATACATTTATATA TACATATTTATATATATTTATATATATTTATAGATATATATTTATAGATA TATATTTATATATATTTATTTATATTTATATATATATTTATATATATTTA TTTATATTTATATTTATATTTATATTTATTTATATTTATATATATTTATA TATTTATATATATTTATATATATTTATATATATTTATATATATATTTATA TATTTATATATATTTATATATATTTATATATATATTTATATATTTATATA TATTTATATTTATATATTTATATATATTTATATTTCTATTTATTTATATA TATTTATATTTATTTATATTTATATATTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0078 a0001c0002t0023g0078	1	240	0.0042	378	c.174 others(397): Show c.1749-3781_1749-3780insCATTTATATACATATTTATATATACA TTTATATATACATTTATATATACATATTTATATATATTTATATATATTTA TAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTATA TATATATTTATATATATTTATTTATATTTATATTTATATTTATATTTATT TATATTTATATATATTTATATATTTATATATATTTATATATATTTATATA TATTTATATATATATTTATATATTTATATATATTTATATATATTTATATA TATATTTATATATTTATATATATTTATATTTATATATTTATATATATTTA TATTTCTATTTATTTATATATATTTATATTTATTTATATTTATATATTAA TA	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATTTATA others(371): Show CATTTATATATACATTTATATATACATATTTATATATATTTATATATATT TATAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTA TATATATATTTATATATATTTATTTATATTTATATTTATATTTATATTTA TTTATATTTATATATATTTATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATTTA TATATATTTATATATATTTATATATATATTTATATATTTATATATATTTA TATTTATATATTTATATATATTTATATTTCTATTTATTTATATATATTTA TATTTATTTATATTTATATATTAATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0070 a0001c0002t0004g0070	1	3	0.3333	378	c.174 others(397): Show c.1749-3776_1749-3775insTTATATATACATTTATATATACATAT TTATATATATTTATATATATTTATAGATATATATTTATAGATATATATTT ATATATATTTATTTATATTTATATATATATTTATATATATTTATTTATAT TTATATTTATATTTATATTTATTTATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATTTATATATATTTATATATATTTATATATATAT TTATATATTTATATATATTTATATTTATATATTTATATATATTTATATTT CTATTTATTTATATATATTTATATTTATTTATATTTATATATTAATATAT AT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL17_chr1_955584_970719	964668	G G	GCGGGTCC others(371): Show GCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGA TGTGCTGCGGGGAGGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGG GAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGCC GGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTG GGGATGTGCTGCCGGGAGTGGGGCGCGGGTCCGCAGTGGGGATGTGCTGC CGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGC GCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAG TGGGGCTGTGCTGCGGGAAGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0023 a0001c0003t0008g0023	1	429	0.0023	378	c.170 others(395): Show c.1700+154_1700+155insCTGTGGGAGGGGTCCGCGCGTCCGCAGT GGGGATGTGCTGCGGGGAGGGGGGGCGCGGGTCCGCAGTGGGGATGTGCT GCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGG GGGCCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCG CAGTGGGGATGTGCTGCCGGGAGTGGGGCGCGGGTCCGCAGTGGGGATGT GCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGG GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGGCCGGGTCCGCAGTGGGG	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(371): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAGGAGGAGGAGGAAAAGAAGATGAATAGAGGAGGAGGA GAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGAGGAGGGCGGAGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	5	0.2000	378	c.583 others(393): Show c.583-356_583-355insCCCTCCTCCTCCGCCCTCCTCCCCTCCTCC CCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCT CCTCCTCCTCTATTCATCTTCTTTTCCTCCTCCTCCTCTTCCTCTTCCTC TTCATCTTCCACTGCCTCTTCTCCTCTCCTCCTCCTCCCTCTCCCTCTCC CCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCT TCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCC CTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCC TCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LHPP_chr10_124456823_124619141	124471560	A A	ATATATTT others(371): Show ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT TTATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATATATTTTTATATATATTTAT ATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTT ATATATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATATAG TTATATATATAGTTATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	216	0.0046	378	c.125 others(395): Show c.125+9578_125+9579insTTATATATATTTATATATATTTATATAT ATTTATATATATATTTTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATATATAT TTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTATAT ATAGTTATATATATTTATATATAGTTATGTATAGTTATATATAGTTATAT ATATAGTTATATATAGTTATATATATAGTTATATATATATATTTTTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

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