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
FMN1_chr15_32760544_33199714	32821096	T T	TCACAGAT others(306): Show TCACAGATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GCATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0033 a0002c0003t0033	a0002c0003t0033g0006 a0002c0003t0033g0006	1	196	0.0051	313	c.392 others(334): Show c.3929-16765_3929-16764insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCTGTG	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	17/20			chr15	TogoVar
FNIP2_chr4_158764026_158913050	158782535	T T	TCCTCAAA others(306): Show TCCTCAAATTAGTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	2	254	0.0079	313	c.107 others(332): Show c.107+13233_107+13234insTTTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCAAATTAGTTTCTT	FNIP2	ENSG00000052795.13	transcript	ENST00000264433.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(306): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTT TTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02622.hp1 HG03041.hp2 others(1): Show HG01256.hp2 HG02622.hp1 HG03041.hp2 NA19240.hp1	a0004 a0059 a0074 a0004 a0059 a0074	a0004c0018 a0004c0089 a0059c0088 others(1): Show a0004c0018 a0004c0089 a0059c0088 a0074c0059	a0004c0018t0001 a0004c0089t0026 a0059c0088t0030 others(1): Show a0004c0018t0001 a0004c0089t0026 a0059c0088t0030 a0074c0059t0041	a0004c0018t0001g0079 a0004c0089t0026g0151 a0059c0088t0030g0170 others(1): Show a0004c0018t0001g0079 a0004c0089t0026g0151 a0059c0088t0030g0170 a0074c0059t0041g0046	4	178	0.0225	313	c.272 others(332): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(306): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTT TTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG02717.hp2 HG02922.hp1	a0064 a0070 a0064 a0070	a0064c0056 a0070c0107 a0064c0056 a0070c0107	a0064c0056t0046 a0070c0107t0037 a0064c0056t0046 a0070c0107t0037	a0064c0056t0046g0056 a0070c0107t0037g0168 a0064c0056t0046g0056 a0070c0107t0037g0168	2	178	0.0112	313	c.272 others(332): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAA GCGTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FSTL5_chr4_161378897_162169000	161435496	T T	TAAAATCT others(306): Show TAAAATCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01981.hp1 NA20805.hp2 HG01069.hp1 HG01981.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0003g0114 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0003g0114	3	142	0.0211	313	c.184 others(334): Show c.1841+19507_1841+19508insTTTTTTTTTTTTTTTTTTTTTTTT GAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
GABBR2_chr9_98283109_98713935	98393157	C C	CCCATCCA others(306): Show CCCATCCATCCATCCATCCATCCATCTATCCATCCACTTGATCAATTCAT CTATCCATCTACCCAGCCATCCATCTGTCCACCCATCTACCTGTCCATCT ATCCACTCACCCACCCACCCACATACCTATCCATCTATCCATCCATCCGC CCATTCACACACCCATCCAGGCATCCACCCAACCATCCATCCATCCATCC ATCCATCCACACACCCACTCATCCACCCAACCATCCATCCATCCACTCAT CCACTCATCCACCCAACCATCCATCCATCCACTCATCCACCAACCCATCC ATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0017 a0002c0016t0027 a0002c0016t0044 a0001c0001t0017 a0002c0016t0027 a0002c0016t0044	a0001c0001t0017g0057 a0002c0016t0027g0048 a0002c0016t0044g0134 a0001c0001t0017g0057 a0002c0016t0027g0048 a0002c0016t0044g0134	3	164	0.0183	313	c.137 others(332): Show c.1378+1017_1378+1018insATGGATGGATGGATGGATGGGTTGGT GGATGAGTGGATGGATGGATGGTTGGGTGGATGAGTGGATGAGTGGATGG ATGGATGGTTGGGTGGATGAGTGGGTGTGTGGATGGATGGATGGATGGAT GGATGGTTGGGTGGATGCCTGGATGGGTGTGTGAATGGGCGGATGGATGG ATAGATGGATAGGTATGTGGGTGGGTGGGTGAGTGGATAGATGGACAGGT AGATGGGTGGACAGATGGATGGCTGGGTAGATGGATAGATGAATTGATCA AGTGGATGGATAGATGGATGGATGGATGGATGGATGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98393157	C C	CCCATCCA others(306): Show CCCATCCATCCATCCATCCATCCATCTATCCATCCACTTGATCAATTCAT CTATCCATCTACCCAGCCATCCATCTGTCCACCCATCTACCTGTCCATCT ATCCACTCACCCACCCACCCACCCACATACCTATCCATCTATCCATCCAT CCGCCCATTCACACACCCATCCAGGCATCCACCCAACCATCCATCCATCC ATCCATCCATCCACACACCCACTCATCCACCCAACCATCCATCCATCCAC TCATCCACTCATCCACCCAACCATCCATCCATCCACTCATCCACCAACCC ATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0075 a0001c0001t0047g0075	1	164	0.0061	313	c.137 others(332): Show c.1378+1017_1378+1018insATGGATGGATGGATGGGTTGGTGGAT GAGTGGATGGATGGATGGTTGGGTGGATGAGTGGATGAGTGGATGGATGG ATGGTTGGGTGGATGAGTGGGTGTGTGGATGGATGGATGGATGGATGGAT GGTTGGGTGGATGCCTGGATGGGTGTGTGAATGGGCGGATGGATGGATAG ATGGATAGGTATGTGGGTGGGTGGGTGGGTGAGTGGATAGATGGACAGGT AGATGGGTGGACAGATGGATGGCTGGGTAGATGGATAGATGAATTGATCA AGTGGATGGATAGATGGATGGATGGATGGATGGATGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GAD1_chr2_170811887_170866151	170828108	C C	CTCACCCT others(306): Show CTCACCCTCCTCCCTCTGCTGTCCTCGCCCTCCTCTCTGCTGTCCTCACC TCTCCTCTCTCTGCTATCCTCACCCCTCCTCACCCCTCCTCTCTCTGCTG TCCTCACCCCTCCCCTTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTG TCCTCACCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCT CACCCTCCTCCCTCTGCTGTCCTCGCCCTCCTCTCTGCTGTCCTCACCTC TCCTCTCTCTGCTATCCTCACCCCTCCTCACCCCTCCTCTCTCTGCTGTC CTCACCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp2 HG01981.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0119 a0001c0001t0001g0121	2	412	0.0049	313	c.146 others(330): Show c.146-1365_146-1364insACCCTCCTCCCTCTGCTGTCCTCGCCCT CCTCTCTGCTGTCCTCACCTCTCCTCTCTCTGCTATCCTCACCCCTCCTC ACCCCTCCTCTCTCTGCTGTCCTCACCCCTCCCCTTCCCTCTGCTGTCCT CACCCTCCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCACC CTCCTCCCTCTGCTGTCCTCACCCTCCTCCCTCTGCTGTCCTCGCCCTCC TCTCTGCTGTCCTCACCTCTCCTCTCTCTGCTATCCTCACCCCTCCTCAC CCCTCCTCTCTCTGCTGTCCTCACCCCTCCCCTTC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132241349	C C	CCCCTTCC others(306): Show CCCCTTCCCGGGGCCGTCCCTATCCCCATTACACACACGCCACACACCCT TCCCAGGGCCGTCCCTATACCCATTACACACACACCACACACCCTTCCCC GGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCC CTCCCTATACCCATTGCACACACAACACACACTTCCCGGGGCCCTCCCTA TACCCATTACACACACGCCACACATCCTTCCAGGGGCCCTCCCTATACCC ATTACACACACGCCACACACCCTTCCCAGGGCCGTCCCTATACCCATTAC ACACACAACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp1 others(4): Show HG00408.hp1 HG00408.hp2 HG02027.hp1 HG02683.hp1 HG02698.hp1 NA18964.hp2 NA19070.hp1	a0001 a0001	a0001c0011 a0001c0013 a0001c0020 others(1): Show a0001c0011 a0001c0013 a0001c0020 a0001c0041	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(1): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0001c0041t0006	a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0129 others(4): Show a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0129 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0020t0001g0115 a0001c0041t0006g0001	7	183	0.0383	313	c.107 others(332): Show c.1077+6560_1077+6561insTGTGTGTTGTGTGTGTAATGGGTATA GGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCTGGAAGGATGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGTGTGTGTTGTGTGTGCAATGGGTATAGGGAGGGCCCCGGGAAG GGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCGGGGAAGGGTGT GTGGTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGC GTGTGTGTAATGGGGATAGGGACGGCCCCGGGAAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241441	C C	CCTTACAG others(306): Show CCTTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTC CTGGGGACCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGGGACCT CCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTA TACCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATCCCC ATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTAC ACACACAACACACA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	183	0.0055	313	c.107 others(332): Show c.1077+6468_1077+6469insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241883	A A	ACACACCC others(306): Show ACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACACA CACTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTT CCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGG GGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCC TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCT ATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATACC CATTACACACACGC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0179 a0001c0012t0002g0179	1	183	0.0055	313	c.107 others(332): Show c.1077+6026_1077+6027insGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGT GTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAREM1_chr18_32258522_32475882	32379542	T T	TAAAATAC others(306): Show TAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0024 a0001c0031t0024	a0001c0031t0024g0086 a0001c0031t0024g0086	1	192	0.0052	313	c.262 others(332): Show c.262+13352_262+13353insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTAATTTTTGTATTTT	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GCC2_chr2_108444206_108514415	108468852	A A	AATGTGTT others(306): Show AATGTGTTCTACCTTTTTTTTTTTTTTAGACGGAGTCTCGCTCTGTCGCC CAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	276	0.0036	313	c.217 others(328): Show c.217-112_217-111insTTTTTTTTTTAGACGGAGTCTCGCTCTGTC GCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCATGTGTTCTACCTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCNT4_chr5_75020346_75057558	75027968	T T	TCCCTTCG others(306): Show TCCCTTCGCTCCTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGATCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01891.hp2 others(23): Show HG00642.hp2 HG01243.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0015 a0003c0003t0020 others(4): Show a0003c0003t0012 a0003c0003t0015 a0003c0003t0020 a0003c0003t0031 a0003c0003t0032 a0003c0003t0058 a0003c0003t0059	a0003c0003t0012g0049 a0003c0003t0012g0101 a0003c0003t0012g0102 others(19): Show a0003c0003t0012g0049 a0003c0003t0012g0101 a0003c0003t0012g0102 a0003c0003t0012g0103 a0003c0003t0012g0152 a0003c0003t0012g0201 a0003c0003t0012g0277 a0003c0003t0012g0315 a0003c0003t0015g0009 a0003c0003t0015g0045 a0003c0003t0015g0153 a0003c0003t0015g0154 a0003c0003t0020g0050 a0003c0003t0020g0052 a0003c0003t0020g0053 a0003c0003t0020g0054 a0003c0003t0020g0056 a0003c0003t0031g0051 a0003c0003t0031g0314 a0003c0003t0032g0012 a0003c0003t0058g0091 a0003c0003t0059g0057	26	382	0.0681	313	c.70 others(322): Show c.707_*708insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGATCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAGAGGAGCGAAGGG	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	4/4	707		chr5	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(306): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00609.hp2 others(26): Show HG00544.hp1 HG00544.hp2 HG00609.hp2 HG01106.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp2 HG02273.hp1 HG02273.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18960.hp2 NA18970.hp2 NA18986.hp1 NA18993.hp1 NA18999.hp2 NA19012.hp1 NA19054.hp2 NA19066.hp1 NA19074.hp2 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0020 a0001c0001t0031	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0005g0001 a0001c0001t0005g0008 a0001c0001t0006g0005 a0001c0001t0014g0001 a0001c0001t0020g0001 a0001c0001t0031g0020	29	424	0.0684	313	c.-32 others(324): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GGTLC2_chr22_22639614_22652898	22644857	C C	CCTGGGCA others(306): Show CCTGGGCAACAAGAGCGAAACTTCGTCACACACACACACACACACAAGAA AGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATCCCAGCATTT TGGGAGGTTCGGGCAGACGGATCACGAGATCAGGAGTTGGAGACCAGCCT GGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAATTTAGTCACAC ATGGTGGCACGCGCCTGTAGTCCAGCTACTCCGGCGGCTGAGACAGGAAA ATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCTGAGATCGCG CCACTGCACTCCAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0003 a0018c0032t0003	a0018c0032t0003g0077 a0018c0032t0003g0077	1	412	0.0024	313	c.-35 others(328): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCATC CCAGCATTTTGGGAGGTTCGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAATT TAGTCACACATGGTGGCACGCGCCTGTAGTCCAGCTACTCCGGCGGCTGA GACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCT GAGATCGCGCCACTGCACTCCAGCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GPC5_chr13_91393621_92872237	91609017	T T	TAAAATTT others(306): Show TAAAATTTAGATTTGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	42	0.0238	313	c.326 others(332): Show c.326-84155_326-84154insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCC GTCTCAAAAAAAAAAAAAAAAAAAAATTTAGATTTGA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66563133	A A	ATGAAATA others(306): Show ATGAAATAAGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCGTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	234	0.0043	313	c.64+ others(330): Show c.64+54555_64+54556insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCGTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGAAATAAGTTTT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRID1_chr10_85594552_86371795	86016232	T T	TGCCTCCT others(306): Show TGCCTCCTGGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04199.hp1 HG03017.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0037 a0001c0003t0048 a0001c0001t0037 a0001c0003t0048	a0001c0001t0037g0033 a0001c0003t0048g0038 a0001c0001t0037g0033 a0001c0003t0048g0038	2	96	0.0208	313	c.727 others(332): Show c.727-99994_727-99993insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAGAACCCAGGAGGC	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15			chr10	TogoVar
GRID2_chr4_92298966_93779566	92780818	T T	TGCCTTCT others(306): Show TGCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	34	0.0294	313	c.244 others(334): Show c.244+190539_244+190540insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCTTCT	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GTF2E2_chr8_30573318_30663236	30583976	T T	TTTGTATT others(306): Show TTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCACCCGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp1 HG03209.hp1 HG02818.hp2 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0153 a0001c0001t0001g0242 a0001c0003t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0242 a0001c0003t0001g0141	3	378	0.0079	313	c.644 others(330): Show c.644-3581_644-3580insGGCCGGGTGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAATACAA	GTF2E2	ENSG00000197265.9	transcript	ENST00000355904.9	protein_coding	6/7			chr8	TogoVar
GTF2H5_chr6_158163350_158204344	158169660	A A	ATATATTG others(306): Show ATATATTGTATATTATATAATATATTGTATATTATACAATATATTGTATA TTATATAATATATAATATATTGTATATTATATAATATATTATATAATATA TAATATATTGTATATTATATAATATATAATATATTGTATATTATATATAA TATATTGTATATTATATATAATATATTGTATATTATATATAATATATTGT ATATTATATATAATATATTGTATATTATATATAATATATTGTATATTATA TATAATATATTGTATATTATATATTATATAATATATTGTATATTGTATAT TATATAATATATTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0066 a0001c0001t0106g0066	1	384	0.0026	313	c.-34 others(328): Show c.-34-786_-34-785insTGTATATTATACAATATATTGTATATTATA TAATATATAATATATTGTATATTATATAATATATTATATAATATATAATA TATTGTATATTATATAATATATAATATATTGTATATTATATATAATATAT TGTATATTATATATAATATATTGTATATTATATATAATATATTGTATATT ATATATAATATATTGTATATTATATATAATATATTGTATATTATATATAA TATATTGTATATTATATATTATATAATATATTGTATATTGTATATTATAT AATATATTGTATATTGTATATTATATAATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(306): Show AGGAAGGGAAGGGGAGGGTGAGGGAGGGGGGGAGGAGGGAAGGGGGAGGG GGGAGGAGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGGA GGAGGGAAGGGGGAGGGGGGAGGGGGAAGGGAAGGGAGGGAAGGGAAGGG TGGGAGGGGAGGGGGGGAGCGGAAGGGAAGGGTCAGAGGGGAGGGGGAGG GGGAGGGAGAGAGGGAGGAAAGAGGGAGGGGAAAGGGAGGGGAAGGGAAG GGTGAGAAGGGAAGGGGAGGGGAGGGGTGGGGAAAAGGGAGGGGAAGGGC AGGGGAAAGGGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0215 a0001c0002t0039g0215	1	256	0.0039	313	c.169 others(334): Show c.1693-11006_1693-11005insCCTCCCTTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTTTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCTCTGACCCTTCCCTTCCGCTCCCCCCCTCCCCTCCCACCCTTCCCTT CCCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCCTCCCCC CTCCCCCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCCCT TCCCTCCTCCCCCCCTCCCTCACCCTCCCCTTCCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
GULP1_chr2_188286874_188600926	188298290	T T	TCTCACGC others(306): Show TCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01516.hp1 NA20752.hp1 HG01081.hp1 HG01516.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0004g0107 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0004g0107	3	162	0.0185	313	c.-17 others(332): Show c.-172+6124_-172+6125insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(306): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGGCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	410	0.0024	313	c.-43 others(324): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(306): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	428	0.0023	313	c.187 others(330): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HDHD3_chr9_113368422_113381986	113377738	C C	CAGTAGCT others(306): Show CAGTAGCTGGGATTATAGGCGTGTGCCACCACACCCAGCTAATTTTTGTA TTTTTTGTAGAGACGGGGCTTCACCATGTTGGCCAGAGTGGTCTCAAACT CCTGACCTCAACTGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGGATAC AGGCCTGAGTCACTGCGCCCGGCCTATTCTTTTTGTTTTTTTTTTTTTAA TTTTTTTGAGACAGTTTCACTCTTGTTGCACAGGCTGGAGTGTAATGGCG CGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCT GCCTTAGCCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG03225.hp2 others(1): Show HG02109.hp1 HG02809.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0054 a0001c0001t0003g0040 a0001c0001t0003g0054	4	464	0.0086	313	c.-13 others(324): Show c.-1301_-1300insTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCA GGAGGTGGAGGTTGCAGTGAACCGAGATCGCGCCATTACACTCCAGCCTG TGCAACAAGAGTGAAACTGTCTCAAAAAAATTAAAAAAAAAAAAACAAAA AGAATAGGCCGGGCGCAGTGACTCAGGCCTGTATCCCAGCACTTTGGGAG GCCGAGGCGGGTGAATCAGTTGAGGTCAGGAGTTTGAGACCACTCTGGCC AACATGGTGAAGCCCCGTCTCTACAAAAAATACAAAAATTAGCTGGGTGT GGTGGCACACGCCTATAATCCCAGCTACT	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		753		chr9	TogoVar
HIVEP1_chr6_12007312_12169999	12101934	T T	TAAGAAAG others(306): Show TAAGAAAGCTGGAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00673.hp1 others(33): Show HG00099.hp2 HG00642.hp2 HG00673.hp1 HG01168.hp1 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02572.hp1 HG02895.hp1 HG02965.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18946.hp2 NA18966.hp1 NA18971.hp2 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19067.hp2 NA19070.hp2 NA19083.hp2	a0004 a0008 a0040 a0004 a0008 a0040	a0004c0004 a0008c0018 a0040c0052 a0004c0004 a0008c0018 a0040c0052	a0004c0004t0001 a0004c0004t0002 a0008c0018t0001 others(1): Show a0004c0004t0001 a0004c0004t0002 a0008c0018t0001 a0040c0052t0001	a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0008 others(33): Show a0004c0004t0001g0005 a0004c0004t0001g0006 a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0036 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0082 a0004c0004t0001g0089 a0004c0004t0001g0091 a0004c0004t0001g0111 a0004c0004t0001g0117 a0004c0004t0001g0165 a0004c0004t0001g0205 a0004c0004t0001g0207 a0004c0004t0001g0210 a0004c0004t0001g0237 a0004c0004t0001g0240 a0004c0004t0001g0243 a0004c0004t0001g0261 a0004c0004t0001g0262 a0004c0004t0001g0263 a0004c0004t0001g0265 a0004c0004t0001g0267 a0004c0004t0001g0279 a0004c0004t0001g0321 a0004c0004t0001g0325 a0004c0004t0001g0332 a0004c0004t0001g0333 a0004c0004t0002g0216 a0004c0004t0002g0334 a0004c0004t0002g0335 a0004c0004t0002g0336 a0008c0018t0001g0337 a0008c0018t0001g0338 a0040c0052t0001g0102	36	344	0.1047	313	c.94+ others(330): Show c.94+12713_94+12714insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAGAAAGCTGGAGTGG	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477160	T T	TAAATATA others(306): Show TAAATATATTTATATATATATTATATATATATATTATATTTATATATAAT ATAATATTATATAATATATAATATATATTATAATATATAATATATAATTA TATATATAATATATAATATATATAATTATATAATATAATATTATATAATA TATATTATATAATATATATTATTATAATATATAATATATAATATATAATA ATATAATATATAAATATATAAAATATATTTATATATTATATTTATATATT ATATATTATATAATATATATTATATTTATATAATATAAATATATATAATA TATAATATATATTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	334	0.0030	313	c.795 others(332): Show c.795+18258_795+18259insTAATATATATTATATATTATATATAT TTATATTATATAAATATAATATATATTATATAATATATAATATATAAATA TAATATATAAATATATTTTATATATTTATATATTATATTATTATATATTA TATATTATATATTATAATAATATATATTATATAATATATATTATATAATA TTATATTATATAATTATATATATTATATATTATATATATAATTATATATT ATATATTATAATATATATTATATATTATATAATATTATATTATATATAAA TATAATATATATATATAATATATATATAAATATATTT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(306): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCAGCACTTT GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	313	c.53 others(324): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(306): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA20300.hp1 HG02622.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	348	0.0058	313	c.53 others(324): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HOMER1_chr5_79367636_79519134	79378369	G G	GCTATAAT others(306): Show GCTATAATGATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCACGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG03453.hp1 HG02055.hp1 HG02486.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0150 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0150	3	290	0.0103	313	c.877 others(330): Show c.877-2173_877-2172insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACGTGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAATCATTATAG	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	8/8			chr5	TogoVar
HSD17B7_chr1_162785702_162817823	162791518	G G	GCATTTGG others(306): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	420	0.0024	313	c.35+ others(326): Show c.35+697_35+698insTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGA GCCACCGCGCCCGGCCACATTTGGCATTTTT	HSD17B7	ENSG00000132196.16	transcript	ENST00000254521.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321573	A A	ACATACAT others(306): Show ACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACC AATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACAT ACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATA CATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACAT GCGTGGAACCAATACATATGTGGAACTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0140 a0001c0001t0012g0140	1	323	0.0031	313	c.-34 others(324): Show c.-3483_-3482insCATACATGCGTGGAACCAATACATATGTGGAACA TACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAAT ACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACA TGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACAT ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACTGTGGAACC AATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCAT ACATGTGTGGAACCAATACATATGTGGAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3396		chr21	TogoVar
IGSF21_chr1_18102798_18383483	18171677	C C	CAAAAGCC others(306): Show CAAAAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	248	0.0040	313	c.71- others(330): Show c.71-56214_71-56213insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP4B_chr4_142018160_142851301	142337147	A A	AAAGTACA others(306): Show AAAGTACATTTATTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0030 a0001c0001t0024g0030	1	90	0.0111	313	c.373 others(332): Show c.373-22386_373-22385insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAGAAAATAAATGTACTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	7/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142337147	A A	AAAGTACA others(306): Show AAAGTACATTTATTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTC TGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01071.hp1 others(11): Show HG00438.hp1 HG00642.hp2 HG01071.hp1 HG01106.hp1 HG01516.hp1 HG02523.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03831.hp1 NA18906.hp2 NA19005.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0002t0007 a0001c0005t0001 a0002c0004t0001 a0002c0004t0006	a0001c0001t0001g0022 a0001c0001t0002g0048 a0001c0001t0003g0032 others(11): Show a0001c0001t0001g0022 a0001c0001t0002g0048 a0001c0001t0003g0032 a0001c0001t0004g0053 a0001c0001t0006g0047 a0001c0001t0011g0011 a0001c0001t0012g0061 a0001c0001t0014g0076 a0001c0001t0014g0078 a0001c0001t0018g0008 a0001c0002t0007g0079 a0001c0005t0001g0070 a0002c0004t0001g0062 a0002c0004t0006g0057	14	90	0.1556	313	c.373 others(332): Show c.373-22386_373-22385insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCC ATCTCAAAAAAAAAAAAAAAAGAAAATAAATGTACTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	7/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142711480	T T	TAAAAGAA others(306): Show TAAAAGAATGAGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	90	0.0111	313	c.-19 others(334): Show c.-191+14358_-191+14359insTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAT TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCATCACTCATTCTTTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INTS2_chr17_61860367_61932982	61908814	T T	TAAAATCA others(306): Show TAAAATCAGTTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02056.hp1 HG02071.hp1 others(6): Show HG01175.hp1 HG02056.hp1 HG02071.hp1 HG02258.hp2 HG02602.hp1 HG04184.hp1 NA18966.hp2 NA18967.hp2 NA19010.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0013 a0001c0002 a0007c0013	a0001c0002t0004 a0001c0002t0009 a0001c0002t0028 others(1): Show a0001c0002t0004 a0001c0002t0009 a0001c0002t0028 a0007c0013t0004	a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0066 others(6): Show a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0066 a0001c0002t0004g0068 a0001c0002t0004g0073 a0001c0002t0004g0078 a0001c0002t0009g0062 a0001c0002t0028g0366 a0007c0013t0004g0080	9	366	0.0246	313	c.955 others(330): Show c.955-1181_955-1180insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGAAAACTGATTTT	INTS2	ENSG00000108506.14	transcript	ENST00000251334.7	protein_coding	7/24			chr17	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(306): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATCATATATATATGAAATA TATATATGATATATGAAATATATATATGATATATGAAATATATATATGAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAATATATATATGATATATATAT GAAATATATATATGATATATATATGAAATATATATATGATATATATATGA AATATATATATGAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0283 a0002c0002t0003g0283	1	344	0.0029	313	c.25- others(328): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATCATATA TATATGAAATATATATATGATATATGAAATATATATATGATATATGAAAT ATATATATGATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT GATATATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATATGAAATATATATATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(306): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAATATATATATGATATATATAT GAAATATATATATGATATATATATGAAATATATATATGATATATATATGA AATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0184 a0003c0003t0002g0184	1	344	0.0029	313	c.25- others(328): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT GATATATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATATGAAATATATATATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP2_chr5_147580438_147787728	147764922	G G	GAAAAGAA others(306): Show GAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0188 a0001c0005t0017g0188	1	250	0.0040	313	c.-14 others(334): Show c.-149+17533_-149+17534insTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
KCNG3_chr2_42437017_42498982	42447083	C C	CAAAAAAA others(306): Show CAAAAAAAAAAAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAGTACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	342	0.0029	313	c.666 others(330): Show c.666-2505_666-2504insTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTACTT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCCCTTTTTTTTTTT	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNH1_chr1_210673314_211139148	210718378	G G	GCATATAT others(306): Show GCATATATTTAATGCATAAATATATGCATATATTTAATACATAAATATAT GCATATATTTATATATTAAAATATATACATATATTTATATATAAAATATA TACATATATTTATATATATATAAATATATACATATATTTATATATATATA AATATATACATATATTTATATATATAAATATATACATATATTTATATATA TAAATATATACATATATTTATATATATAAATATATACATATATTTATATA TATAAATATATACATATATTTATATATATAAATATATACATATATTTATA TATATAAATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	164	0.0061	313	c.211 others(334): Show c.2113-34241_2113-34240insTATATATTTATATATATAAATATA TGTATATATTTATATATATAAATATATGTATATATTTATATATATAAATA TATGTATATATTTATATATATAAATATATGTATATATTTATATATATAAA TATATGTATATATTTATATATATAAATATATGTATATATTTATATATATA TAAATATATGTATATATTTATATATATATAAATATATGTATATATTTTAT ATATAAATATATGTATATATTTTAATATATAAATATATGCATATATTTAT GTATTAAATATATGCATATATTTATGCATTAAATATATG	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210718378	G G	GCATATAT others(306): Show GCATATATTTAATGCATAAATATATGCATATATTTAATACATAAATATAT GCATATATTTATATATTAAAATATATACATATATTTATATATAAAATATA TACATATATTTATATATATATAAATATATACATATATTTATATATATATA AATATATACATATATTTATATATATAAATATATACATATATTTATATATA TAAATATATACATATATTTATATATATAAATATATACATATATTTATATA TATAAATATATGTATATATTTATATATATAAATATATACATATATTTATA TATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	164	0.0061	313	c.211 others(334): Show c.2113-34241_2113-34240insTATATATTTATATATATAAATATA TGTATATATTTATATATATAAATATATACATATATTTATATATATAAATA TATGTATATATTTATATATATAAATATATGTATATATTTATATATATAAA TATATGTATATATTTATATATATAAATATATGTATATATTTATATATATA TAAATATATGTATATATTTATATATATATAAATATATGTATATATTTTAT ATATAAATATATGTATATATTTTAATATATAAATATATGCATATATTTAT GTATTAAATATATGCATATATTTATGCATTAAATATATG	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(306): Show TTAATGCATAAATATATGCATATATTTAATGCATAAATATATGCATATAT TTAATACATAAATATATGCATATATTTAATATATGCATATATTTAATACA TAAATATATGCATATATTTAATATATGCATATATTTAATACATAAATATA TGCATATATTTAATACATAAATATATGCATATATTTAATACATAAATATA TGCATATATTTAATACATAAATATATGCATATATTTAATACATAAATATA TGCATATATTTATATATAAAATATATACATATATGTATATATATAAAATA TATACATATATGTA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	164	0.0061	313	c.211 others(334): Show c.2113-34249_2113-34248insTACATATATGTATATATTTTATAT ATATACATATATGTATATATTTTATATATAAATATATGCATATATTTATG TATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATG TATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATG TATTAAATATATGCATATATTAAATATATGCATATATTTATGTATTAAAT ATATGCATATATTAAATATATGCATATATTTATGTATTAAATATATGCAT ATATTTATGCATTAAATATATGCATATATTTATGCATTA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(306): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATATAATATATATTAAATATATATTATATA AAATATATATTATATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	260	0.0039	313	c.963 others(332): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATATAATATATATTAA ATATATATTATATAAAATATATATTATATATAAAATATATATTATATATA AAATATATAATATATATAAAATATATATTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758772	T T	TATATATA others(306): Show TATATATATATATCTCCTCTAGGAGAGATATATATATATATATATATATC TCCAAGAGGAGATATATATATATATATATATATATCTCCTCTAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGA TATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGA GATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAG GAGATATATATATATATATATATCTCCAAGAGGAGATATATATATATATA TATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	232	0.0043	313	c.-67 others(332): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATATCTCC TCTAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT CTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATAT ATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATAT ATATATATATATATCTCCAAGAGGGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDR_chr4_55073481_55130595	55126939	T T	TCCAAGCA others(306): Show TCCAAGCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02886.hp2 HG01167.hp2 HG02886.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0184 a0005c0005t0001g0185 a0005c0005t0001g0184 a0005c0005t0001g0185	2	398	0.0050	313	c.-16 others(324): Show c.-1647_-1646insGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAGAATCTGCTTGG	KDR	ENSG00000128052.10	transcript	ENST00000263923.5	protein_coding		1345		chr4	TogoVar
KIAA0753_chr17_6573147_6645711	6635337	T T	TAAAAGCA others(306): Show TAAAAGCAACCACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0164 a0002c0002t0002g0164	1	370	0.0027	313	c.-68 others(328): Show c.-68-167_-68-166insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTGTGGTTGCTTTT	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	1/18			chr17	TogoVar

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