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
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(304): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02602.hp2 HG03239.hp2 others(1): Show HG00639.hp2 HG02602.hp2 HG03239.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0351 others(1): Show a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0351 a0001c0003t0001g0285	4	370	0.0108	311	c.189 others(330): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FILIP1L_chr3_99823811_100119501	99936540	T T	TAATTTTT others(304): Show TAATTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19043.hp1 NA18973.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0124 a0001c0001t0003g0145 a0001c0001t0001g0124 a0001c0001t0003g0145	2	258	0.0078	311	c.-10 others(328): Show c.-10-5511_-10-5510insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAATACAAAAATT	FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	1/5			chr3	TogoVar
FLT3_chr13_27998274_28105576	28085688	T T	TTGTTTCT others(304): Show TTGTTTCTAGCAATATTCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02698.hp2 others(1): Show HG02572.hp2 HG02615.hp1 HG02698.hp2 HG03225.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0004 a0002c0002 a0003c0003 others(1): Show a0001c0004 a0002c0002 a0003c0003 a0004c0006	a0001c0004t0001 a0002c0002t0003 a0003c0003t0001 others(1): Show a0001c0004t0001 a0002c0002t0003 a0003c0003t0001 a0004c0006t0001	a0001c0004t0001g0078 a0002c0002t0003g0067 a0003c0003t0001g0196 others(1): Show a0001c0004t0001g0078 a0002c0002t0003g0067 a0003c0003t0001g0196 a0004c0006t0001g0283	4	292	0.0137	311	c.43+ others(328): Show c.43+14779_43+14780insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCAT CTCAAAAAAAAAAAAAGAATATTGCTAGAAACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	1/23			chr13	TogoVar
FLT4_chr5_180596506_180654600	180615439	T T	TGGGCCCG others(304): Show TGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCC CCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCGCCG GTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACC TCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCT TCTCCACTTCCTTTTGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCA CTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCT TTCGGAGCACTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01258.hp1 others(1): Show HG00738.hp2 HG01070.hp2 HG01258.hp1 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0351 a0002c0002t0001g0353 others(1): Show a0002c0002t0001g0016 a0002c0002t0001g0351 a0002c0002t0001g0353 a0002c0002t0001g0354	4	388	0.0103	311	c.321 others(328): Show c.3219+927_3219+928insCAGTGCTCCGAAAGGAAGTGGAGAAGGG AGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGA CCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCG GGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCC AGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCT CCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAA AGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180615596	T T	TGGTCACC others(304): Show TGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTC ACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCC CCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTAGGAGC ACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGG GCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCC GCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCAC TGGGGCCCCGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0026 a0001c0044t0026	a0001c0044t0026g0333 a0001c0044t0026g0333	1	388	0.0026	311	c.321 others(328): Show c.3219+770_3219+771insGGCGGGGCCCCAGTGCTCCGAAAGACAG TGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCG AAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGG AAGTGGAGAAGGGAGGTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTG GATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCCAGTGCTCCGA AAGACAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAG TGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(304): Show TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACCTCCCTTCTCCACTT CCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCT TCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTC ACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCC CGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAACACTGTGGCCCCGCT GGTCAACTCCCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03239.hp2 HG02083.hp1 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0339 a0002c0002t0001g0016 a0002c0002t0001g0339	2	388	0.0052	311	c.321 others(328): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC AGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(304): Show TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACCTCCCTTCTCCACTT CCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCT TCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTC ACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCC CGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAACACTGTGGCCCCGCT GGTCAACTCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01258.hp1 HG00738.hp2 HG01070.hp2 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0351 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0351 a0002c0002t0001g0353 a0002c0002t0001g0354	3	388	0.0077	311	c.321 others(328): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC AGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32821096	T T	TCACAGAT others(304): Show TCACAGATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGC ATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	196	0.0051	311	c.392 others(332): Show c.3929-16765_3929-16764insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCTGTG	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	17/20			chr15	TogoVar
FOXP1_chr3_70949708_71588728	71435459	A A	ACGGAGGG others(304): Show ACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGG ACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGC ACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGG ACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0088 a0001c0001t0019g0088	1	96	0.0104	311	c.-16 others(332): Show c.-168+57966_-168+57967insCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTGCCTCCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCG	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(304): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTT ATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG06807.hp2 HG02145.hp2 HG02615.hp1 HG06807.hp2	a0048 a0058 a0089 a0048 a0058 a0089	a0048c0119 a0058c0117 a0089c0101 a0048c0119 a0058c0117 a0089c0101	a0048c0119t0040 a0058c0117t0020 a0089c0101t0020 a0048c0119t0040 a0058c0117t0020 a0089c0101t0020	a0048c0119t0040g0103 a0058c0117t0020g0002 a0089c0101t0020g0099 a0048c0119t0040g0103 a0058c0117t0020g0002 a0089c0101t0020g0099	3	178	0.0169	311	c.272 others(330): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGC GTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM2_chr13_38682077_38892131	38717579	G G	GCTAATTT others(304): Show GCTAATTTTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCT GCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20300.hp1 HG03516.hp1 NA20300.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0003 a0013c0021t0003	a0013c0021t0003g0001 a0013c0021t0003g0002 a0013c0021t0003g0001 a0013c0021t0003g0002	2	262	0.0076	311	c.526 others(332): Show c.5263+19809_5263+19810insTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAATTTTTGTATTTTT	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FTO_chr16_53699156_54126941	53841057	T T	TAAGAAGT others(304): Show TAAGAAGTGCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCCGCCTGGGAGACAGAGCGAGACTCCGTC TCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG00738.hp1 others(39): Show HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02258.hp2 HG02615.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02970.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG04184.hp1 HG04199.hp1 NA18939.hp2 NA18941.hp1 NA18950.hp1 NA18962.hp2 NA18973.hp2 NA18989.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0037 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0061 a0001c0001t0065 a0001c0001t0069 a0001c0006t0012 a0003c0005t0014	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 others(39): Show a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0002g0051 a0001c0001t0002g0107 a0001c0001t0002g0175 a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0004g0085 a0001c0001t0004g0094 a0001c0001t0004g0100 a0001c0001t0005g0029 a0001c0001t0005g0076 a0001c0001t0005g0104 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0156 a0001c0001t0008g0037 a0001c0001t0008g0106 a0001c0001t0010g0043 a0001c0001t0014g0030 a0001c0001t0018g0157 a0001c0001t0018g0173 a0001c0001t0037g0128 a0001c0001t0041g0075 a0001c0001t0043g0040 a0001c0001t0046g0010 a0001c0001t0047g0192 a0001c0001t0051g0101 a0001c0001t0052g0180 a0001c0001t0055g0102 a0001c0001t0061g0148 a0001c0001t0065g0184 a0001c0001t0069g0045 a0001c0006t0012g0057 a0003c0005t0014g0168	42	194	0.2165	311	c.752 others(328): Show c.752-3086_752-3085insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGAGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAGAAGTGCCTG	FTO	ENSG00000140718.22	transcript	ENST00000471389.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
GALK2_chr15_49165247_49336882	49317392	T T	TAAAAAGT others(304): Show TAAAAAGTCAGGAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00609.hp1 others(27): Show HG00099.hp1 HG00280.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01978.hp2 HG02257.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02976.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0024 a0001c0002t0051 a0001c0002t0003 a0001c0002t0024 a0001c0002t0051	a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 others(27): Show a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0024g0038 a0001c0002t0024g0136 a0001c0002t0051g0169	30	348	0.0862	311	c.968 others(328): Show c.968-2197_968-2196insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGTCAGGAAGC	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNS_chr16_88808734_88861947	88834537	A A	ACCGCGTG others(304): Show ACCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAA GAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCC CCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTG GGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGG GCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGG TCTGGGAAGAGGCTGTAGGGCTCTCCCCACCGCGTGGTCTGGGAAGAGGC TGCAGGGCCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	404	0.0025	311	c.898 others(326): Show c.898+675_898+676insGGGGGCCCTGCAGCCTCTTCCCAGACCACG CGGTGGGGAGAGCCCTACAGCCTCTTCCCAGACCACGCTGAGGGGGGCCC TGCAGCCTCTTCCCAGACCACACGGGGGGGGCCCTACAGCCTCTTCCCAG ACCACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGGGGGGGG GCCCTGCAGCCTCTTCCCAGACCACACGGGGGGGGCCCTACAGCCTCTTC CCAGACCACGCTGAGGGGGGCCCTGCAGCCTCTTCCCAGACCACGCGGGG GGGCCCTGCAGCCTCTTCCCAGACCACGCGG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNT13_chr2_153866922_154458979	154298608	T T	TAATTTAT others(304): Show TAATTTATATATACATTGTATATATAATTTATATATACATTGTATATATA ATTTATATATACAATGTATATATAATTTATATATACATTGTATATATAAA TTATATATACAATGTATATATAATTTATATATACATTGTATATATAATTT ATATATACATTGTATATATAATTTATATATACATTGTATATATAAATTAT ATATACAATGTATATATAATTTATATATACAATGTATATATAAATTATAT ATACATTGTATATACAATTTATATATACATTGTATATATAAATTATATAT ACAATGTATATA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19083.hp1 NA19062.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0103 a0001c0001t0009g0102 a0001c0001t0005g0103 a0001c0001t0009g0102	2	214	0.0094	311	c.976 others(328): Show c.976-2801_976-2800insAATTTATATATACATTGTATATATAATT TATATATACATTGTATATATAATTTATATATACAATGTATATATAATTTA TATATACATTGTATATATAAATTATATATACAATGTATATATAATTTATA TATACATTGTATATATAATTTATATATACATTGTATATATAATTTATATA TACATTGTATATATAAATTATATATACAATGTATATATAATTTATATATA CAATGTATATATAAATTATATATACATTGTATATACAATTTATATATACA TTGTATATATAAATTATATATACAATGTATATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT9_chr12_132191372_132334589	132242977	C C	CAGGGCCG others(304): Show CAGGGCCGTCCCTATAACCATTACACACACAACACACACCCTTCCAGGGG CCCTCCCTATACCCATTACACACACACCACGCCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACAACACACACCCTTCCCGGGGTCGTCCCTATACCCA TTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACA CACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACACAA CACACCCTTCCA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0015 a0001c0043t0015	a0001c0043t0015g0178 a0001c0043t0015g0178	1	183	0.0055	311	c.107 others(330): Show c.1077+4932_1077+4933insTGGAAGGGTGTGTTGTGTGTGTAATG GGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAG GGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGACG ACCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGCGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTG TGTGTTGTGTGTGTAATGGTTATAGGGACGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GATB_chr4_151665504_151766007	151678620	A A	AAACAGAG others(304): Show AAACAGAGCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTCTTTAG CCCAGGCCGGATTGCAGTGGCACAATCTTGGCTCACTGCAAGCTCCGCCT CCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCAGCC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	320	0.0031	311	c.141 others(330): Show c.1410+1192_1410+1193insGGCTGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGA TCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAA TACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCA GTGAGCCAAGATTGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAGCTCTGTT	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	11/12			chr4	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(304): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(30): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01346.hp1 HG01934.hp2 HG02080.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG04115.hp2 HG04204.hp1 NA18951.hp1 NA18957.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA19054.hp1 NA19065.hp1 NA19068.hp2 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0006g0001 a0001c0001t0022g0001	33	424	0.0778	311	c.-32 others(322): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GDF2_chr10_47317454_47332588	47328733	T T	TGTGTGTG others(304): Show TGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTGTGCACACTGGAGTGAG TGATGTGATGTGCACACTGGGGTGAGTGATGTGTGTGCACACGGGGGTGA GTGATTCAGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTGTGCACACTG GGGTGAGTGACGTGGTGTGTGCACACTGAGGGGGGTGAGTGACGTGGTGT GTGCACACTGGGGTGAGTGATGTGGTGTGTGCACACTGGGGTGAGTGATG TGGTGTGTGCACACTGAGGGGGGTGAGTGATGTGGTGTGTGCACCCTGGG GTGAGTGATGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA18942.hp1 NA18969.hp1 others(3): Show HG00423.hp2 NA18942.hp1 NA18969.hp1 NA19010.hp2 NA19080.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	424	0.0142	311	c.29 others(322): Show c.2949_*2950insGTGTGTGCACCCTGGGGTGAGTGATGCGGTGTGT GCACACTGGAGTGAGTGATGTGATGTGCACACTGGGGTGAGTGATGTGTG TGCACACGGGGGTGAGTGATTCAGTGTGTGCACCCTGGGGTGAGTGATGC GGTGTGTGCACACTGGGGTGAGTGACGTGGTGTGTGCACACTGAGGGGGG TGAGTGACGTGGTGTGTGCACACTGGGGTGAGTGATGTGGTGTGTGCACA CTGGGGTGAGTGATGTGGTGTGTGCACACTGAGGGGGGTGAGTGATGTGG TGTGTGCACCCTGGGGTGAGTGATGCG	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1146		chr10	TogoVar
GNA14_chr9_77418079_77653322	77475028	T T	TCCAGTGT others(304): Show TCCAGTGTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	240	0.0042	311	c.310 others(330): Show c.310-40507_310-40506insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAGAAACACTGG	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(304): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCC CCGCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03225.hp1 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0019 a0001c0001t0023g0047 a0001c0001t0001g0019 a0001c0001t0023g0047	2	422	0.0047	311	c.31 others(322): Show c.3138_*3139insGGGGAGGGGCGGGGCGGGGCGGGGCGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(304): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	188	0.0053	311	c.109 others(330): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR161_chr1_168074542_168141930	168110204	T T	TAATAGAA others(304): Show TAATAGAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01361.hp2 HG02015.hp2 others(13): Show HG00408.hp2 HG01361.hp2 HG02015.hp2 HG03239.hp2 HG03688.hp2 HG04228.hp1 NA18948.hp2 NA18951.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18991.hp2 NA18998.hp2 NA19057.hp2 NA19066.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0027 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0027 a0001c0002t0006 a0001c0002t0024 a0001c0002t0034 a0001c0002t0038	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0013g0091 others(13): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0013g0091 a0001c0001t0027g0308 a0001c0001t0027g0309 a0001c0002t0006g0021 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0024 a0001c0002t0006g0025 a0001c0002t0006g0027 a0001c0002t0006g0028 a0001c0002t0006g0029 a0001c0002t0024g0317 a0001c0002t0034g0020 a0001c0002t0038g0019	16	340	0.0471	311	c.-44 others(328): Show c.-44-5311_-44-5310insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTATTTTTTCTATT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GRM5_chr11_88499642_89070982	88506963	T T	TAAGGCTG others(304): Show TAAGGCTGGGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02895.hp1 others(2): Show HG02451.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0010 a0001c0002t0010 a0001c0002t0027 others(1): Show a0001c0001t0010 a0001c0002t0010 a0001c0002t0027 a0001c0004t0008	a0001c0001t0010g0180 a0001c0002t0010g0174 a0001c0002t0027g0027 others(2): Show a0001c0001t0010g0180 a0001c0002t0010g0174 a0001c0002t0027g0027 a0001c0004t0008g0003 a0001c0004t0008g0004	5	184	0.0272	311	c.16 others(322): Show c.1628_*1629insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGACCCAGCCTT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	10/10	1628		chr11	TogoVar
GRM7_chr3_6856115_7746533	7128490	T T	TAAAAATC others(304): Show TAAAAATCAGACTTCTGGCCGGGGGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02922.hp1 HG03098.hp2 others(2): Show HG01981.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0006	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0008t0003 a0002c0006t0001	a0001c0001t0003g0063 a0001c0002t0001g0059 a0001c0002t0002g0042 others(2): Show a0001c0001t0003g0063 a0001c0002t0001g0059 a0001c0002t0002g0042 a0001c0008t0003g0016 a0002c0006t0001g0007	5	80	0.0625	311	c.520 others(330): Show c.520-17948_520-17947insTGGCCGGGGGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTA CAAAAAATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAATCAGACTTC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM8_chr7_126433598_127257941	127021337	G G	GGGAAATT others(304): Show GGGAAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02559.hp1 HG02647.hp1 others(3): Show HG00639.hp2 HG02559.hp1 HG02647.hp1 HG03491.hp1 NA18992.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0004t0006 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0014 a0001c0001t0002g0091 a0001c0001t0002g0102 others(3): Show a0001c0001t0002g0014 a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0001t0007g0107 a0001c0004t0006g0004 a0002c0002t0001g0069	6	108	0.0556	311	c.727 others(330): Show c.727+85158_727+85159insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTTCC	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10			chr7	TogoVar
GTPBP4_chr10_983434_1024932	1010985	C C	CCTCCTGC others(304): Show CCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCT CTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTT CCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCA CCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACT CTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGAC TCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTG GGCCTCTTCATT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	370	0.0027	311	c.134 others(328): Show c.1344+475_1344+476insTCTTCCCTGTCCCGACACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCC TACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTC ATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCC ACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCC TCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGG TGGAGATGCTGGGCCTCTTCATTCTCCTGCACC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP6_chrX_299759_323796	321715	A A	ACCAGCAT others(304): Show ACCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAA AAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAGAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0024 a0005c0010t0001g0024	1	155	0.0065	311	c.-29 others(322): Show c.-2929_-2928insCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACC TCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCT AATTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGT CTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCT CCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACAC CAGGCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGTAGATAAT AGGGTCTTACCATATTGCCCATGCTGG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2920		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(304): Show AGGAAGGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGG GGAGGAGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGGAG GAGGGAAGGGGGAGGGGGGAGGGGGAAGGGAAGGGAGGGAAGGGAAGGGT GGGAGGGGAGGGGGGAGCGGAAGGGAAGGGTCAGAGGGGAGGGGGAGGGG GAGGGAGAGAGGGAGGAAAGAGGGAGGGGAAAGGGAGGGGAAGGGAAGGG TGAGAAGGGAAGGGGAGGGGAGGGGTGGGGAAAAGGGAGGGGAAGGGCAG GGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp2 HG01952.hp2 others(13): Show HG01169.hp2 HG01243.hp2 HG01952.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG03098.hp1 HG03471.hp2 HG03540.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0006 a0001c0002t0003 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0012 a0001c0003t0003 a0001c0003t0004 a0001c0003t0029	a0001c0001t0004g0010 a0001c0001t0004g0173 a0001c0001t0004g0174 others(13): Show a0001c0001t0004g0010 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0006g0044 a0001c0001t0006g0175 a0001c0002t0003g0228 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0006g0189 a0001c0002t0012g0177 a0001c0003t0003g0238 a0001c0003t0003g0241 a0001c0003t0003g0253 a0001c0003t0004g0247 a0001c0003t0029g0240	16	256	0.0625	311	c.169 others(332): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTTTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCTCTGACCCTTCCCTTCCGCTCCCCCCTCCCCTCCCACCCTTCCCTTC CCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCCTCCCCCC TCCCCCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCCCTT CCCTCCTCCCCCCTCCCTCACCCTCCCCTTCCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(304): Show TTATAATTAATAATAACATGTAATTAATTATAAATTTATAATTAATAATA ACATGTAATTAATTATAAATTTATAATTAATAATAACATGTAATTAATTA TAAATTTATAATTAATAATAACATGTAATTAATTATAAATTAATAATTAA TAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATT AATTATAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATA ATTAATAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATG TAATTAATTATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	398	0.0025	311	c.38- others(326): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAA TTAATTACATGTTATTATTAATTATAAATTTATAATTAATTACATGTTAT TATTAATTATAAATTTATAATTAATTACATGTTATTATTAATTATAAATT TATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
H2BC6_chr6_26178761_26189230	26187715	A A	AAATGACT others(304): Show AAATGACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	311	c.35 others(322): Show c.3539_*3540insAATGACTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACTGCGCCCGGCC	H2BC6	ENSG00000274290.3	transcript	ENST00000614097.3	protein_coding		3486		chr6	TogoVar
H4C4_chr6_26183710_26194112	26187715	A A	AAATGACT others(304): Show AAATGACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	372	0.0027	311	c.10 others(322): Show c.1049_*1050insGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAGTCATT	H4C4	ENSG00000277157.2	transcript	ENST00000614247.2	protein_coding		994		chr6	TogoVar
HEATR5A_chr14_31286788_31425550	31344587	T T	TTAGTTAT others(304): Show TTAGTTATTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTGGCTCTG TCGCCCAGGCGGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGAGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0120 a0021c0027t0001g0120	1	354	0.0028	311	c.305 others(328): Show c.3058+499_3058+500insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCCGCCTGGGCGACAGAGCCAGACGCTGT CTCAAAAAAAAAAAAAAAAAAAAAGAATAACTA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	20/35			chr14	TogoVar
HERC3_chr4_88587480_88713539	88699189	C C	CCCCCTAG others(304): Show CCCCCTAGCCCCACCCTCTTCCCACCCACCCCCAGCCCCGCCTTCTTCTT CCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACCCT CTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCCCT ACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGACCC AGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACC CACCCACCCCTACCCGCTTCTTCCCCACCCACCCACCCAGCCCCACCCCA CTCATCGACCCA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	296	0.0034	311	c.265 others(330): Show c.2658-4909_2658-4908insCCCCTAGCCCCACCCTCTTCCCACCC ACCCCCAGCCCCGCCTTCTTCTTCCCCACCCACCCACCCAGCCCCACCCC ACTCATCGACCCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACC CTCTTCCCCACCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACCC AGCCCCACCCCACTCATCGACCCAGCTCCACCCTCTTCTTCCCCACCGAC CCACCCCTACCCTCTTCCCCACCCACCCACCCCTACCCGCTTCTTCCCCA CCCACCCACCCAGCCCCACCCCACTCATCGACCCA	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25			chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22818800	C C	CCTTCCTT others(304): Show CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCC TTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG03453.hp1 others(1): Show HG01891.hp1 HG02647.hp1 HG03453.hp1 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0010 a0001c0001 a0001c0003 a0005c0010	a0001c0001t0001 a0001c0003t0003 a0005c0010t0001 a0001c0001t0001 a0001c0003t0003 a0005c0010t0001	a0001c0001t0001g0186 a0001c0003t0003g0018 a0001c0003t0003g0021 others(1): Show a0001c0001t0001g0186 a0001c0003t0003g0018 a0001c0003t0003g0021 a0005c0010t0001g0042	4	350	0.0114	311	c.485 others(328): Show c.485+3706_485+3707insTTCCTTCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCGTCCTTCCCTCCTTCCTT CCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B11_chr4_87331515_87396188	87333147	T T	TGAGTCTT others(304): Show TGAGTCTTGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGCAAGCTCC GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGG ACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02257.hp1 others(12): Show HG00639.hp2 HG01884.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0005	a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 others(12): Show a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0007g0119 a0001c0001t0007g0134 a0001c0001t0009g0343 a0001c0001t0009g0346 a0001c0001t0009g0363 a0001c0002t0005g0153	15	390	0.0385	311	c.41 others(322): Show c.4128_*4129insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTA GCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAGCAAGACTC	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding		3367		chr4	TogoVar
HSD17B3_chr9_96230306_96307176	96301414	T T	TAAAAATA others(304): Show TAAAAATACAAAACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTGAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0365 a0001c0001t0002g0365	1	374	0.0027	311	c.154 others(326): Show c.154+536_154+537insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTCAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCGTTTTGTATTTTT	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	1/10			chr9	TogoVar
HSD17B7_chr1_162785702_162817823	162791518	G G	GCATTTGG others(304): Show GCATTTGGCATTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACC ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03710.hp2 NA18990.hp2 others(2): Show HG03486.hp1 HG03710.hp2 NA18990.hp2 NA19060.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0002c0003t0002 a0001c0001t0002 a0001c0002t0002 a0002c0003t0002	a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 others(2): Show a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0002t0002g0104 a0002c0003t0002g0106	5	420	0.0119	311	c.35+ others(324): Show c.35+697_35+698insTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGC CACCGCGCCCGGCCACATTTGGCATTTTT	HSD17B7	ENSG00000132196.16	transcript	ENST00000254521.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(304): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01243.hp2 others(16): Show HG01081.hp1 HG01106.hp2 HG01243.hp2 HG01346.hp2 HG01952.hp1 HG02145.hp1 HG02148.hp1 HG02698.hp2 HG03130.hp1 HG03195.hp2 HG04115.hp1 HG04199.hp2 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18960.hp1 NA19001.hp1 NA19001.hp2 NA19090.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0022 a0040	a0001c0002 a0001c0015 a0001c0048 others(11): Show a0001c0002 a0001c0015 a0001c0048 a0001c0050 a0002c0003 a0002c0010 a0002c0040 a0002c0064 a0003c0049 a0003c0055 a0005c0046 a0008c0053 a0022c0044 a0040c0042	a0001c0002t0002 a0001c0002t0003 a0001c0015t0003 others(13): Show a0001c0002t0002 a0001c0002t0003 a0001c0015t0003 a0001c0048t0003 a0001c0050t0014 a0002c0003t0002 a0002c0003t0003 a0002c0010t0017 a0002c0040t0018 a0002c0064t0001 a0003c0049t0002 a0003c0055t0032 a0005c0046t0002 a0008c0053t0014 a0022c0044t0003 a0040c0042t0003	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0009 others(16): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0003g0147 a0001c0015t0003g0145 a0001c0048t0003g0139 a0001c0050t0014g0144 a0002c0003t0002g0010 a0002c0003t0003g0146 a0002c0003t0003g0166 a0002c0010t0017g0150 a0002c0040t0018g0021 a0002c0064t0001g0078 a0003c0049t0002g0017 a0003c0055t0032g0141 a0005c0046t0002g0007 a0008c0053t0014g0162 a0022c0044t0003g0165 a0040c0042t0003g0138	19	174	0.1092	311	c.132 others(330): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(304): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GGCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0020 a0020	a0020c0036 a0020c0036	a0020c0036t0033 a0020c0036t0033	a0020c0036t0033g0142 a0020c0036t0033g0142	1	174	0.0058	311	c.132 others(330): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGCCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
ICAM3_chr19_10328776_10344624	10337272	C C	CTGGGTGT others(304): Show CTGGGTGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCT GTAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAA GTTCGAGACCAGCTTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAT ACAAAAATTAGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0095 a0002c0004t0001g0095	1	440	0.0023	311	c.344 others(328): Show c.344-1297_344-1296insACTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATC TGCCTGCCTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGC ACCTGGCCTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTGGAGATGGAGT CTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGC AACCTCCACCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGT AGCTGGGACTACAGGTGTGCACTACCACACCCA	ICAM3	ENSG00000076662.11	transcript	ENST00000160262.10	protein_coding	2/6			chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33322511	T T	TATATACA others(304): Show TATATACATGGAATATATACATGGAATATATACATGGAATATATACATGG AACATATATATATGGAACATATACGGAATATATATATGGAATATATATAC GGAATATATATATATATGGAATATATATACGGAATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATGGA ATATATATACGGAATATATATATGGAATATATATATGGAATATGTATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	323	0.0031	311	c.-25 others(322): Show c.-2545_-2544insATATACATGGAATATATACATGGAATATATACAT GGAATATATACATGGAACATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATGGAATATATATACGGAATATATATATGGAATATATATA TGGAATATGTATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2458		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322606	T T	TACATGGA others(304): Show TACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGG AATATATACATGGAATATGTGTATATGGAATATATACATGGAATATATGT ATATGGAATATATACATGGAATATATATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATATGGAATATATACATGGA ATATATATATATGGAATATATACATGGAATATATATATATGGAATATATA CATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATA TATATATGGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA18998.hp2 HG03942.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0231 a0002c0002t0002g0232	2	323	0.0062	311	c.-24 others(322): Show c.-2450_-2449insACATGGAATATATGTATATGGAATATATACATGG AATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATAT ACATGGAATATATGTATATGGAATATATACATGGAATATATATATGGAAT ATATACATGGAATATATATATGGAATATATACATGGAATATATATATATG GAATATATACATGGAATATATATATATGGAATATATACATGGAATATATA TATATGGAATATATACATGGAACATATACATGGAATATATACATGGAACA TATACATGGAATATATATATATGGAAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2363		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(304): Show TAATATATATACGGAATATATATACGGAATATATATATAATATATATATG GAATATATATACGGAATATATATATACGGAATATATATACGGAATGTATA TACGGAATATATATACGGAATGTATATATATGGAATGTATATACGGAATG TATATACGGAATATATATACGGAATATATATATACGGAATATATATACGG AATATATATATACGGAATATATATACGGAATATATATATACGGAATATAT ATATATGGAATATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	323	0.0031	311	c.-21 others(322): Show c.-2147_-2146insAATATATATACGGAATATATATACGGAATATATA TATAATATATATATGGAATATATATACGGAATATATATATACGGAATATA TATACGGAATGTATATACGGAATATATATACGGAATGTATATATATGGAA TGTATATACGGAATGTATATACGGAATATATATACGGAATATATATATAC GGAATATATATACGGAATATATATATACGGAATATATATACGGAATATAT ATATACGGAATATATATATATGGAATATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IGF2_chr11_2124117_2144389	2127050	G G	GTGGATGG others(304): Show GTGGATGGATGGGTGGCTGGATGGGTAGGGGATGGGTGGAGGGATGAGTG GATGGATGAGTGGAGGGATGGGTGGAGGGATGGGTGGAGGGATGGGTGGA TGGATGGGTGGAGGGATGAGTGGATGGATGGGTGGAGGGATGGGTGGTTG GATGGTTGGATGGATGGGTGGAGGGATGGGTGGATGGATGGGTGTAGGGA TGGGCGGAGGGATGAGTGGATGGATGAGTGGAGGGATGGGTGGAGGGATG GGTGGAGGGATGGGTGGAGGGATAGGTGGATGGATGGGGGGATGGATGGG TGGTTGGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0081 a0001c0001t0084g0081	1	388	0.0026	311	c.59 others(322): Show c.5936_*5937insACCATCCAACCACCCATCCATCCCCCCATCCATC CACCTATCCCTCCACCCATCCCTCCACCCATCCCTCCACCCATCCCTCCA CTCATCCATCCACTCATCCCTCCGCCCATCCCTACACCCATCCATCCACC CATCCCTCCACCCATCCATCCAACCATCCAACCACCCATCCCTCCACCCA TCCATCCACTCATCCCTCCACCCATCCATCCACCCATCCCTCCACCCATC CCTCCACCCATCCCTCCACTCATCCATCCACTCATCCCTCCACCCATCCC CTACCCATCCAGCCACCCATCCATCCA	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		2066		chr11	TogoVar
IL10RB_chr21_33261367_33302221	33277664	C C	CTTTTCTT others(304): Show CTTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC TCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02055.hp1 HG03195.hp2 others(1): Show HG01258.hp1 HG02055.hp1 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0004g0235 others(1): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0004g0235 a0001c0001t0005g0218	4	426	0.0094	311	c.331 others(326): Show c.331+914_331+915insTCTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTTTTTTTTT	IL10RB	ENSG00000243646.11	transcript	ENST00000290200.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(304): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAACATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAATATATAATA TATAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	366	0.0027	311	c.-36 others(322): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAACATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTATATATATTATATGTAATATATAATATATAAT ATATAATATATAATATATAATATATAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(304): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAATATATAATA TATAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG02129.hp1 others(24): Show HG00423.hp1 HG01106.hp2 HG02129.hp1 HG02132.hp2 HG03209.hp1 HG03710.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18962.hp2 NA18970.hp1 NA18981.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19006.hp2 NA19057.hp1 NA19081.hp1 NA19089.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0007c0008 others(1): Show a0001c0001 a0001c0002 a0007c0008 a0008c0010	a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0002t0034 a0001c0002t0036 a0007c0008t0002 a0008c0010t0002	a0001c0001t0009g0026 a0001c0002t0002g0004 a0001c0002t0002g0030 others(17): Show a0001c0001t0009g0026 a0001c0002t0002g0004 a0001c0002t0002g0030 a0001c0002t0002g0035 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0135 a0001c0002t0002g0138 a0001c0002t0002g0148 a0001c0002t0002g0211 a0001c0002t0004g0001 a0001c0002t0004g0134 a0001c0002t0034g0004 a0001c0002t0036g0136 a0007c0008t0002g0113 a0008c0010t0002g0004	27	366	0.0738	311	c.-36 others(322): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTATATATATTATATGTAATATATAATATATAAT ATATAATATATAATATATAATATATAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(304): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAACATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAATATATAATA TATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	348	0.0029	311	c.84 others(320): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAACATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTATATATATTATATGTAATATATAATATATAATAT ATAATATATAATATATAATATATAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(304): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAATATATAATA TATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG02129.hp2 others(23): Show HG00423.hp1 HG01106.hp2 HG02129.hp2 HG02132.hp1 HG03710.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18953.hp2 NA18955.hp1 NA18962.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19006.hp1 NA19057.hp2 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110	26	348	0.0747	311	c.84 others(320): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTATATATATTATATGTAATATATAATATATAATAT ATAATATATAATATATAATATATAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar

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