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
GABRG3_chr15_26966181_27546984	27520634	T T	TCCCAAAA others(307): Show TCCCAAAATCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0037 a0001c0017t0001 a0001c0003t0037 a0001c0017t0001	a0001c0003t0037g0018 a0001c0017t0001g0038 a0001c0003t0037g0018 a0001c0017t0001g0038	2	28	0.0714	314	c.865 others(329): Show c.865+521_865+522insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTAT TTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCAAAATCTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241807988	G G	GCCCAGAG others(307): Show GCCCAGAGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCCTCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	283	0.0035	314	c.38 others(325): Show c.3822_*3823insCCCAGAGACCTCCGCAGGCCACTCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGG CCACTCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCCTCCCTCCTCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3702		chr2	TogoVar
GALNT13_chr2_153866922_154458979	153997453	T T	TATTGATT others(307): Show TATTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0188 a0001c0001t0010g0188	1	212	0.0047	314	c.142 others(333): Show c.142+52814_142+52815insATTGATTTCTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298828	A A	ATTGTATA others(307): Show ATTGTATATATAAATTATATATACAATGTATATATAATTTATATATACAA TGTATATATAAATTATATATACATTGTATATACAATTTATATATACATTG TATATACAATTTATATATAAATTGTATATACAATGTATATATAAAATGTA TATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTATA TATAATTTATATATAAATTGTATATACAATTTATATATAAATTATATTAT TTATATATAGTATATATAAATATATATAATATATAAATTATATATTTATT TATATATTATATTAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0181 a0001c0001t0012g0181	1	108	0.0093	314	c.976 others(331): Show c.976-2579_976-2578insGTATATATAAATTATATATACAATGTAT ATATAATTTATATATACAATGTATATATAAATTATATATACATTGTATAT ACAATTTATATATACATTGTATATACAATTTATATATAAATTGTATATAC AATGTATATATAAAATGTATATACAATGTATATATAAATTGTATATACAA TGTATATATAAATTGTATATATAATTTATATATAAATTGTATATACAATT TATATATAAATTATATTATTTATATATAGTATATATAAATATATATAATA TATAAATTATATATTTATTTATATATTATATTATTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132241874	A A	ACACACAC others(307): Show ACACACACGCCACACCCCCTTCCCGAGGCCCTCCCTATACCCATTACACA CACACCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACATGC CACACACCCTTCCAGGGGCCCTCCCTATACCCATTACAAACACGCCACAC ACCCTTCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCT TCCAGGGGTCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCG GGGCCGTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCC CTCCCTATACCCATT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03942.hp2 HG03017.hp1 HG03942.hp2	a0001 a0001	a0001c0006 a0001c0041 a0001c0006 a0001c0041	a0001c0006t0001 a0001c0041t0015 a0001c0006t0001 a0001c0041t0015	a0001c0006t0001g0098 a0001c0041t0015g0178 a0001c0006t0001g0098 a0001c0041t0015g0178	2	182	0.0110	314	c.107 others(333): Show c.1077+6035_1077+6036insAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGCGTGTGTGTAATGGGGATAGGGACGGCCCCGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAGGACCCCTGGAAGGGTGTGTGT TGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGT TTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCATGTGTGTA ATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGG TATAGGGAGGGCCTCGGGAAGGGGGTGTGGCGTGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242939	C C	CTCCCTAT others(307): Show CTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCC TATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGCCCTCCCTATACCCATTA CACACACGCCACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACAC ACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAAC ACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACC CCCTTCCCGGGGCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	168	0.0060	314	c.107 others(333): Show c.1077+4970_1077+4971insAGGCCCCGGGAAGGGGGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGG GTATAGGGAAGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GCNT4_chr5_75020346_75057558	75027968	T T	TCCCTTCG others(307): Show TCCCTTCGCTCCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGATCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0066 a0003c0003t0026g0151 a0003c0003t0026g0066 a0003c0003t0026g0151	2	353	0.0057	314	c.70 others(323): Show c.707_*708insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGATCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAGAGGAGCGAAGGG	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	4/4	707		chr5	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(307): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG03688.hp1 NA18971.hp2 others(9): Show HG00673.hp2 HG03688.hp1 NA18971.hp2 NA18972.hp2 NA18985.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19012.hp2 NA19076.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0006g0001 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0006g0001	12	241	0.0498	314	c.-32 others(325): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGCCTG others(307): Show CGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0249 a0001c0008t0001g0249	1	263	0.0038	314	c.467 others(329): Show c.467-493_467-492insCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACG GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGAGAGTGGGTGTTGGGCCTGGGAGTGGAGGGAG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(307): Show CGGGGTCTGGGAGTGGAGGGAGGGCGAGCGGGTGTTAGGACGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0023 a0001c0006t0023	a0001c0006t0023g0243 a0001c0006t0023g0243	1	263	0.0038	314	c.467 others(329): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGGGCGAGCGGGTG TTAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGAGAGTGGGTGTTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(307): Show TTGCACTCCAGCCTGGGCAACAAGTGCAAAACTCAGTCTCCAGATAAAAA AAAGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATC CTAGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0252 a0001c0003t0007g0252	1	99	0.0101	314	c.-35 others(329): Show c.-35+159_-35+160insAGTGCAAAACTCAGTCTCCAGATAAAAAAA AGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATCCT AGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGAGA CCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAAATTT AGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCTGA GACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCT GAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(307): Show TTGCACTCCAGCCTGGGCAACAAGTGCAAAACTCAGTCTCCAGATAAAAA AAAGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATC CTAGCACTTTGGGAGGTCGGGGCGGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCT GAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	99	0.0101	314	c.-35 others(329): Show c.-35+159_-35+160insAGTGCAAAACTCAGTCTCCAGATAAAAAAA AGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATCCT AGCACTTTGGGAGGTCGGGGCGGACGGATCACGAGATCAGGAGTTGGAGA CCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAATTT AGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGGCTGA GACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCT GAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(307): Show TTGCACTCCAGCCTGGGCAACAAGTGCAAAACTCAGTCTCCAGATAAAGA AAAGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATC CTAGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAAT TTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTGCTCCGGCGGCT GAGACAGGAGAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCG CTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0041 a0006c0011t0004g0041	2	100	0.0200	314	c.-35 others(329): Show c.-35+159_-35+160insAGTGCAAAACTCAGTCTCCAGATAAAGAAA AGAAAAAGAAAAAAAAGAGGCCGGGCGTGGTGGCTTATGCCTATAATCCT AGCACTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTGGAGA CCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAAATTT AGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTGCTCCGGCGGCTGA GACAGGAGAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATGCGCT GAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GINS1_chr20_25402673_25453563	25446388	T T	TTACAGTG others(307): Show TTACAGTGTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAG CCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02559.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0024 a0001c0001t0009g0025 a0001c0001t0009g0024 a0001c0001t0009g0025	2	356	0.0056	314	c.41 others(323): Show c.412_*413insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCC ACCGCGCCCGGCCTACAGTGTGTTTTTT	GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding	7/7	413	INFO_REALIGN_3_PRIME	chr20	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(307): Show GGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGG AAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGAGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAG GAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0161 a0002c0002t0003g0161	1	14	0.0714	314	c.229 others(333): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(307): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAG GAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0039 a0002c0002t0016g0039	1	14	0.0714	314	c.229 others(333): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT TCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(307): Show GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GGAGGGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGGAAGGAAA GGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGG GAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGGAAGGAAAGG AGGGAGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGA AGGAAGGGAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGGAAG GAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0088 a0002c0002t0051g0088	1	14	0.0714	314	c.229 others(333): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTCCCTTCCTTCCCCTCCCTCCCTCCCTCCCTTCCTTCCCCTCCCTC CCTCCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTCCTTTCCTTCC CCTCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCC TTCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTCCTTTCCTTCCCC TCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCCCTCCCCTCCCTCCCT CCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GMDS_chr6_1618806_2250605	1897926	C C	CTTGCCAT others(307): Show CTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCT ACCCTGGCCTCCCTTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCC ATCCTGGACACCTATCCTGGCCTCCCTTTGCCATCCTGGACACCTACCCT GGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTG GACACCTACCCTGGCCTCCCTTTGCCATCCTGGACACCTATCCTGGCCAC CCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACC TACCCTGGCCACCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	163	0.0061	314	c.771 others(333): Show c.771+32176_771+32177insAGGGTGGCCAGGGTAGGTGTCCAGGA TGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGAT AGGTGTCCAGGATGGCAAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAA GGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGT CCAGGATGGCAAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGG CCAGGGTAGGTGTCCAGGATGGCAAAGGGAGGCCAGGGTAGGTGTCCAGG ATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(307): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCGCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	243	0.0041	314	c.31 others(325): Show c.3138_*3139insGGGGGGAGGGGCGGGGCGGGGCGGGGCGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GPC6_chr13_93221807_94413020	94061740	T T	TGAGAAAG others(307): Show TGAGAAAGTGTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0035 a0001c0001t0016g0035	1	76	0.0132	314	c.877 others(333): Show c.877+33862_877+33863insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGAGAAAGTGTATTGTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRHL3_chr1_24314357_24360318	24345043	C C	CCTCCACA others(307): Show CCTCCACACCTGTGCCCCTCCACACCTGTGTCCCCTCCACACCTGTGCCC CCTCCACACCTGTGCCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCC CCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCCC CTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCC CTTTACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCC CTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCC CTCCACACCTGTGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00733.hp1 others(88): Show HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18964.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0002c0004 a0002c0022 a0004c0008 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0016t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0022t0002 a0004c0008t0002 a0004c0008t0010 a0013c0019t0001	a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0071 others(66): Show a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0165 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0227 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0068 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0103 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0171 a0001c0001t0002g0207 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0003g0037 a0001c0001t0006g0224 a0001c0002t0001g0030 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0003t0001g0051 a0001c0016t0002g0142 a0002c0004t0001g0017 a0002c0004t0001g0047 a0002c0004t0001g0055 a0002c0004t0001g0256 a0002c0004t0002g0003 a0002c0004t0002g0020 a0002c0004t0002g0090 a0002c0004t0002g0091 a0002c0004t0002g0242 a0002c0004t0002g0255 a0002c0004t0003g0263 a0002c0022t0002g0020 a0004c0008t0002g0089 a0004c0008t0002g0104 a0004c0008t0010g0084 a0013c0019t0001g0161	91	92	0.9891	314	c.145 others(331): Show c.1454+113_1454+114insTCCACACCTGTGCCCCTCCACACCTGTG TCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCCCCCTCCACACCTGT GCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGT GCACCTCCACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTG CCCCTCCACACCTGTGCCCCCTTTACACCTGTGCCCCTCCACACCTGTGC CCCCTCTACACCTGTGCCCCCTCCACACCTGTGCCCCCTCTACACCTGTG CCCCTCCACACCTGTGCCCCCTCCACACCTGTGCAC	GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRM5_chr11_88499642_89070982	88646597	T T	TAAAGAGT others(307): Show TAAAGAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 NA18939.hp2 others(6): Show HG00099.hp1 HG01081.hp1 NA18939.hp2 NA18950.hp1 NA18957.hp2 NA18983.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0032 a0001c0001t0038	a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0002g0094 a0001c0001t0002g0119 a0001c0001t0002g0134 a0001c0001t0011g0001 a0001c0001t0032g0111 a0001c0001t0038g0183	9	182	0.0495	314	c.114 others(333): Show c.1147+6570_1147+6571insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGATTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTACTCTTT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	4/9			chr11	TogoVar
GSAP_chr7_77305751_77421349	77351448	T T	TAAGAGAA others(307): Show TAAGAGAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGATATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTACAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG02976.hp1 others(2): Show HG01891.hp2 HG02723.hp1 HG02976.hp1 HG03195.hp1 NA19043.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0052 a0007c0011t0002g0138 a0007c0011t0002g0144 others(2): Show a0007c0011t0002g0052 a0007c0011t0002g0138 a0007c0011t0002g0144 a0007c0011t0002g0203 a0007c0011t0002g0308	5	349	0.0143	314	c.149 others(333): Show c.1491+1495_1491+1496insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTGTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TATCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTATTTTTCTCTT	GSAP	ENSG00000186088.16	transcript	ENST00000257626.12	protein_coding	18/30			chr7	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(307): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02886.hp1 others(2): Show HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0033 a0001c0002 a0001c0033	a0001c0002t0005 a0001c0033t0005 a0001c0002t0005 a0001c0033t0005	a0001c0002t0005g0156 a0001c0002t0005g0217 a0001c0002t0005g0283 others(2): Show a0001c0002t0005g0156 a0001c0002t0005g0217 a0001c0002t0005g0283 a0001c0002t0005g0284 a0001c0033t0005g0151	5	179	0.0279	314	c.427 others(331): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC CTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653223	T T	TCCCCCCT others(307): Show TCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0003 a0001c0032t0003	a0001c0032t0003g0052 a0001c0032t0003g0052	1	243	0.0041	314	c.427 others(331): Show c.427-1053_427-1052insCCCCTCCTCCTCCCCCCTCTTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GULP1_chr2_188286874_188600926	188298290	T T	TCTCACGC others(307): Show TCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02055.hp2 HG04228.hp2 HG00140.hp1 HG02055.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105	3	147	0.0204	314	c.-17 others(333): Show c.-172+6124_-172+6125insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
HACL1_chr3_15555699_15606569	15590060	T T	TAAAAAAT others(307): Show TAAAAAATATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0075 a0005c0010t0001g0075	1	391	0.0026	314	c.309 others(329): Show c.309-449_309-448insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCTTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGATATTTTTT	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	4/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(307): Show TGGATCATAATCTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp1 NA20129.hp1 HG02965.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0156 a0001c0001t0001g0030 a0001c0001t0001g0156	3	325	0.0092	314	c.187 others(331): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAACACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(307): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG03453.hp2 HG01069.hp1 HG01167.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0004t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0004t0001g0151	3	325	0.0092	314	c.187 others(331): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HCN1_chr5_45249948_45701380	45257948	C C	CAGTATGA others(307): Show CAGTATGAGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0009 a0001c0001t0031g0009	1	216	0.0046	314	c.39 others(325): Show c.3972_*3973insAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGTACTCATACT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	8/8	3972		chr5	TogoVar
HCN2_chr19_584881_622159	602941	C C	CAGGCGCC others(307): Show CAGGCGCCTGGGGGGAAGGCACCGGCCTGAGGTGTGGGCACCCTCGCCCC CCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCAC CAGCCTGAGGTGTGGGCACCCTTGCCCCCCAGGGAGGAGTGCCCAGGGCT GGTCCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGTGGGCACCC TCGTCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGG AAGGCACCAGCCTGAGGTGTGGGTGCCCCTCGCCCCCAGGGAGGAATGCC CGGGGCTGGTCCCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG03130.hp1 others(1): Show HG01243.hp2 HG02055.hp2 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0026 others(1): Show a0001c0001 a0001c0008 a0001c0026 a0001c0032	a0001c0001t0004 a0001c0008t0014 a0001c0026t0002 others(1): Show a0001c0001t0004 a0001c0008t0014 a0001c0026t0002 a0001c0032t0004	a0001c0001t0004g0229 a0001c0008t0014g0369 a0001c0026t0002g0046 others(1): Show a0001c0001t0004g0229 a0001c0008t0014g0369 a0001c0026t0002g0046 a0001c0032t0004g0102	4	106	0.0377	314	c.633 others(329): Show c.633-573_633-572insGTGTGGGCACCCTCGCCCCCCAGGGAGGAA TGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAGGT GTGGGCACCCTTGCCCCCCAGGGAGGAGTGCCCAGGGCTGGTCCTGCAGG CGCCTGGGGGGAAGGCACTGGCCTGAGGTGTGGGCACCCTCGTCCCCCAG GGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGC CTGAGGTGTGGGTGCCCCTCGCCCCCAGGGAGGAATGCCCGGGGCTGGTC CCATAGGCGCCTGGGGGGAAGGCACCGGCCTGAG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(307): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	331	0.0030	314	c.234 others(329): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCGCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HERC4_chr10_67916905_68080283	68044216	T T	TAAAAATA others(307): Show TAAAAATAGCAAATCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATTCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAACACAAAAAA TTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG03098.hp2 others(3): Show HG01106.hp2 HG02451.hp1 HG03098.hp2 HG03139.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0005g0198 others(3): Show a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0005g0198 a0001c0002t0005g0319 a0001c0002t0005g0320 a0001c0002t0005g0321	6	357	0.0168	314	c.386 others(329): Show c.386+187_386+188insTTTTTTTTTTTTTTTTGAGACAGAGTCTCG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTTTTTT AGTAGAGACGGGGTTTCACTGTGTTAGCCAGAATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTTGATTTGCTATTTTT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	4/24			chr10	TogoVar
HGS_chr17_81679011_81707121	81683623	T T	TAAAGGGT others(307): Show TAAAGGGTGAGTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03579.hp1 HG02965.hp1 HG03579.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0061 a0004c0006t0002g0061	2	411	0.0049	314	c.-44 others(323): Show c.-444_-443insAAAGGGTGAGTCCCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAA	HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding		387		chr17	TogoVar
HIVEP1_chr6_12007312_12169999	12101934	T T	TAAGAAAG others(307): Show TAAGAAAGCTGGAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0012 a0004c0004t0001g0012	1	306	0.0033	314	c.94+ others(331): Show c.94+12713_94+12714insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAGAAAGCTGGAGTGG	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HLA-C_chr6_31263749_31277092	31264271	T T	TAAAAAAA others(307): Show TAAAAAAAAATTAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCTGCAGTCCGACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0005 a0009c0009t0005	a0009c0009t0005g0009 a0009c0009t0005g0009	1	399	0.0025	314	c.48 others(325): Show c.4897_*4898insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGTCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCATGCTTAATTTTTTTTT	HLA-C	ENSG00000204525.18	transcript	ENST00000376228.10	protein_coding		4477		chr6	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(307): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	314	c.53 others(325): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HRH1_chr3_11149493_11268557	11162491	T T	TGTCGGCC others(307): Show TGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAGAACTACC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	328	0.0030	314	c.-36 others(331): Show c.-36+7940_-36+7941insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAGAACTACCGTC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HS2ST1_chr1_86909635_87114982	87093858	T T	TTTGTTTT others(307): Show TTTGTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp2 HG02451.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0112 a0001c0001t0003g0023 a0001c0001t0003g0112	2	150	0.0133	314	c.588 others(331): Show c.588+1203_588+1204insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACCGCGCCCGGCCTTGTTTTCCTTTTT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22834677	T T	TAAAAAGT others(307): Show TAAAAAGTATCCATTTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAAATTAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGTGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(40): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG01109.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01891.hp1 HG02074.hp1 HG02165.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03225.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA19043.hp2 NA19054.hp1 NA19063.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0007c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0007 a0001c0003t0003 a0001c0004t0002 a0001c0005t0002 a0007c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0151 a0001c0001t0001g0152 others(39): Show a0001c0001t0001g0002 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0329 a0001c0001t0004g0331 a0001c0001t0007g0211 a0001c0002t0001g0017 a0001c0002t0001g0102 a0001c0002t0001g0117 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0330 a0001c0002t0007g0047 a0001c0002t0007g0050 a0001c0003t0003g0024 a0001c0004t0002g0153 a0001c0004t0002g0155 a0001c0004t0002g0156 a0001c0004t0002g0301 a0001c0005t0002g0105 a0007c0012t0001g0345	43	342	0.1257	314	c.485 others(333): Show c.485+19601_485+19602insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAAATTAGCCGGGCGTAGTGGCGGACGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGTGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAGTATCCATTTTTTG	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(307): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0079 a0003c0079	a0003c0079t0001 a0003c0079t0001	a0003c0079t0001g0127 a0003c0079t0001g0127	1	74	0.0135	314	c.132 others(333): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
IKBKG_chrX_154542620_154570033	154558031	T T	TCAGTGTC others(307): Show TCAGTGTCCACTCTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTGAGA CGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGC TCACTGCAAGCTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0034 a0001c0001t0005g0033 a0001c0001t0001g0034 a0001c0001t0005g0033	2	243	0.0082	314	c.400 others(329): Show c.400-487_400-486insTTTTTTTTTTTTTTTGTTTTTTTTTTTTTT TGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATC TCCGCTCACTGCAAGCTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGTGTCCACTCTT	IKBKG	ENSG00000269335.7	transcript	ENST00000594239.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
INVS_chr9_100094243_100307175	100133477	T T	TGAAACTT others(307): Show TGAAACTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0015 a0007c0006t0015	a0007c0006t0015g0099 a0007c0006t0015g0099	1	180	0.0056	314	c.273 others(331): Show c.273+6938_273+6939insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAGAAACTTCTT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IQCJ_chr3_159064319_159268747	159229709	T T	TCCTCCCC others(307): Show TCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTCCT CCTCCCCACCCCCCTCCCCCCTCCTCCCCTCCCCCCTCCTCCCCCACCTC CATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCCCCCC CTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCACCTCCT CCTCCTCCCCCCTCCTCGTCCTCCTCCCCCCTCCTCCTCTCCCCCCCTCC TCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCTCCT CCCCATTCTGCTCTC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	248	0.0040	314	c.10- others(331): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCACCCCCCTCCCCCCTCCTCCCCTCCCC CCTCCTCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACC TCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTC CCCCTCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCCTCC TCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTG CTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
ISOC2_chr19_55447985_55466642	55448053	A A	ACACACAC others(307): Show ACACACACCACACACACCACACATACACATACACCACACACTGACCCTCC ACACCACACACGCCGCACAGACCACACATACACACACACACCACACACAC ACCACACACACCACACATACACACACACACCACACACTGACCCTCCACAC CACACACACGCCACACAGACCACACATTACACACACACGCCACACACACA CACCACACACTGACCCCCCCACACCACACACACGCCACACAGGCCACACA TACACACACACACCACCCACAGACCACACAAACACACACACCACACACAC ACACACCACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	378	0.0026	314	c.52 others(325): Show c.5254_*5255insGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTGT TTGTGTGGTCTGTGGGTGGTGTGTGTGTGTATGTGTGGCCTGTGTGGCGT GTGTGTGGTGTGGGGGGGTCAGTGTGTGGTGTGTGTGTGTGGCGTGTGTG TGTAATGTGTGGTCTGTGTGGCGTGTGTGTGGTGTGGAGGGTCAGTGTGT GGTGTGTGTGTGTATGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGT GTATGTGTGGTCTGTGCGGCGTGTGTGGTGTGGAGGGTCAGTGTGTGGTG TATGTGTATGTGTGGTGTGTGTGGTGTGTG	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		4931		chr19	TogoVar
JAZF1_chr7_27825577_28185795	27980742	T T	TAAAAGCA others(307): Show TAAAAGCACCATCTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG00738.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0130 a0001c0001t0001g0034 a0001c0001t0001g0130	2	203	0.0099	314	c.188 others(333): Show c.188+11166_188+11167insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAAGATGGTGCTTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
KCNH7_chr2_162366407_162843767	162788025	A A	ACCCTAAT others(307): Show ACCCTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	96	0.0104	314	c.307 others(333): Show c.307+48511_307+48512insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAGGG	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(307): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATAGAATTCTATATATATAATATATATTATAT ATATAATTCTATATATATAATATATATTATATATATAATTATATATATAA TATATATTATATATATATAATTCTATATATAATATATATTATATATATAA TTCTATATATAATATATATTATATATATAATTCTATATATATAATATATA TTATATATATAATTCTATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	4	0.2500	314	c.62- others(333): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATATAATATATATTATATATAGAATTATATATATA ATATATATTATATATAGAATTATATATATATAATATATATTATATATATA ATTATATATATAATATATATTATATATATAGAATTATATATATAATATAT ATTATATATATAGAATTCTATATATAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(307): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATATAATATATATTATAT ATATAATTCTATATATAATATATATTATATATATAATTCTATATATATAA TATATATTATATATATAATTCTATATATATAATATATATTATATATATAA TTCTATATATATAATATATATTATATATATAATTCTATATATATAATATA TATTATATATATAATTCTATATATAATATATATTATATATATAATTCTAT ATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp1 HG02145.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0070 a0001c0002t0001g0069 a0001c0001t0001g0070 a0001c0002t0001g0069	2	5	0.4000	314	c.62- others(333): Show c.62-463507_62-463506insTAATATATATTATATATAGAATTATA TATATAATATATATTATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATATA GAATTATATATATAATATATATTATATATAGAATTATATATATAATATAT ATTATATATATAGAATTATATATATAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ6_chr21_37602373_37921457	37758145	G G	GCAGTAAT others(307): Show GCAGTAATAGCAGCTGACAATTCGAATTCTAAAGCCAGGCTGCCCAGGTT CTAATCCAGACATCCCCTTACCTGCTGGGTAACCTTGGACAAGTCTCTTA AGTTCTCTATGTCTCTTAGTTTCCTTATTTGTATAATGAGGCTACCTCAT GGAAGCTGTCTCGAGGATTAAACGAGATGATATATGCGAAGGCAGGGATT TTTGTCTGTTGTGTTCAGCACTGTACTCCCAGTGCCTGGAACAGTGCCTG GTACACAATAGGTGTTCAGTAAGTACCTGTAGGAAGAATGCTGAATGCAT GAGGGGCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0068 a0001c0001t0031 a0001c0001t0068	a0001c0001t0031g0118 a0001c0001t0068g0142 a0001c0001t0031g0118 a0001c0001t0068g0142	2	196	0.0102	314	c.26- others(331): Show c.26-43015_26-43014insTCTGGCTGGCCCCTCATGCATTCAGCAT TCTTCCTACAGGTACTTACTGAACACCTATTGTGTACCAGGCACTGTTCC AGGCACTGGGAGTACAGTGCTGAACACAACAGACAAAAATCCCTGCCTTC GCATATATCATCTCGTTTAATCCTCGAGACAGCTTCCATGAGGTAGCCTC ATTATACAAATAAGGAAACTAAGAGACATAGAGAACTTAAGAGACTTGTC CAAGGTTACCCAGCAGGTAAGGGGATGTCTGGATTAGAACCTGGGCAGCC TGGCTTTAGAATTCGAATTGTCAGCTGCTATTACTG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar

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