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
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACAGAGTGAAACCCCCTTTCTAGTAAAAATAC AAATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGTGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 NA18612.hp1 others(5): Show HG00423.hp2 HG00609.hp2 NA18612.hp1 NA19012.hp1 NA19056.hp2 NA19070.hp2 NA19087.hp1 NA19090.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0015 a0010c0016 a0002c0002 a0010c0015 a0010c0016	a0002c0002t0006 a0010c0015t0008 a0010c0016t0008 a0002c0002t0006 a0010c0015t0008 a0010c0016t0008	a0002c0002t0006g0015 a0002c0002t0006g0047 a0002c0002t0006g0048 others(5): Show a0002c0002t0006g0015 a0002c0002t0006g0047 a0002c0002t0006g0048 a0002c0002t0006g0049 a0002c0002t0006g0050 a0002c0002t0006g0051 a0010c0015t0008g0015 a0010c0016t0008g0046	8	412	0.0194	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCCTTTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGTGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	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(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACAGAGTGAAACCCCCTTTCTAGTAAAAATAC AAATTTAGTCAGACATGGTGGCACGCCCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGTGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	412	0.0024	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCCTTTCTAGTAAAAATACAA ATTTAGTCAGACATGGTGGCACGCCCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGTGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	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(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGCGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0104 a0001c0004t0001g0104	1	412	0.0024	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGCGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	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(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(43): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00735.hp1 HG01070.hp1 HG01106.hp2 HG01978.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02486.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03017.hp2 HG03195.hp1 HG03490.hp2 HG03491.hp2 HG03704.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18967.hp2 NA18975.hp1 NA18985.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19055.hp2 NA19087.hp2 NA19089.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0017 a0011c0023	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0017t0002 a0011c0023t0002	a0001c0001t0001g0105 a0001c0003t0002g0308 a0001c0003t0002g0309 others(33): Show a0001c0001t0001g0105 a0001c0003t0002g0308 a0001c0003t0002g0309 a0001c0004t0001g0020 a0001c0004t0001g0115 a0001c0004t0001g0118 a0002c0002t0001g0009 a0002c0002t0001g0106 a0002c0002t0001g0120 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0021 a0002c0002t0002g0053 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0116 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0180 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0006g0022 a0002c0002t0013g0117 a0002c0002t0014g0114 a0002c0002t0015g0002 a0002c0017t0002g0022 a0011c0023t0002g0008	46	412	0.1117	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	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(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGTGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0314 a0002c0002t0002g0314	1	412	0.0024	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGTGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	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(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03942.hp1 NA19240.hp2 others(1): Show HG03486.hp2 HG03942.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 others(1): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0002c0002t0002g0124	4	412	0.0097	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	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(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	412	0.0024	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GHITM_chr10_84134509_84158568	84157913	T T	TCAAGGAT others(311): Show TCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00733.hp2 others(16): Show HG00099.hp1 HG00140.hp2 HG00733.hp2 HG01071.hp1 HG01074.hp2 HG01256.hp2 HG01261.hp1 HG01516.hp2 HG01884.hp1 HG02145.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0003t0001g0030	19	450	0.0422	318	c.55 others(329): Show c.5565_*5566insCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding		4346		chr10	TogoVar
GIPC2_chr1_78040966_78143444	78141369	T T	TTAGTTTT others(311): Show TTAGTTTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	332	0.0030	318	c.56 others(329): Show c.5626_*5627insTAGTTTTAATTCTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	GIPC2	ENSG00000137960.6	transcript	ENST00000370759.4	protein_coding		2926		chr1	TogoVar
GIPR_chr19_45663221_45688722	45672002	A A	AGACACTA others(311): Show AGACACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGATGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAA CCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTT AGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	416	0.0024	318	c.280 others(333): Show c.280+616_280+617insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGATGGAGTGCAGTGGCGCGATCT CTGCTCACTGCAACCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAAT TTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCTGACACT	GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GIPR_chr19_45663221_45688722	45672002	A A	AGACACTA others(311): Show AGACACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAA CCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTT AGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00738.hp2 others(25): Show HG00140.hp2 HG00280.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01943.hp2 HG02135.hp2 HG02615.hp2 HG02738.hp2 HG02976.hp2 HG03139.hp2 HG03453.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18947.hp2 NA18951.hp2 NA18964.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18994.hp2 NA19000.hp1 NA19055.hp1 NA19055.hp2 NA19084.hp2 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0011 a0004c0005t0002 a0005c0009t0002	a0001c0001t0001g0073 a0001c0001t0002g0017 a0001c0001t0002g0028 others(18): Show a0001c0001t0001g0073 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0101 a0002c0002t0001g0012 a0002c0002t0001g0029 a0002c0002t0001g0062 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0100 a0002c0002t0001g0103 a0002c0002t0004g0012 a0002c0002t0004g0018 a0002c0002t0004g0029 a0002c0002t0004g0075 a0002c0002t0011g0065 a0002c0002t0011g0076 a0002c0002t0011g0102 a0004c0005t0002g0072 a0005c0009t0002g0074	28	416	0.0673	318	c.280 others(333): Show c.280+616_280+617insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCT CTGCTCACTGCAACCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAAT TTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCTGACACT	GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GIPR_chr19_45663221_45688722	45672002	A A	AGACACTA others(311): Show AGACACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTT AGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp2 HG02559.hp1 HG03579.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0002 a0011c0010t0002 a0001c0001t0002 a0011c0010t0002	a0001c0001t0002g0080 a0011c0010t0002g0063 a0001c0001t0002g0080 a0011c0010t0002g0063	2	416	0.0048	318	c.280 others(333): Show c.280+616_280+617insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCT CTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAAT TTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCTGACACT	GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GLDC_chr9_6527467_6650729	6590224	T T	TAAGAGAC others(311): Show TAAGAGACTGGGCCGGGCGCGATGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGAGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0006 a0001c0037t0006	a0001c0037t0006g0277 a0001c0037t0006g0277	1	342	0.0029	318	c.148 others(335): Show c.1483-933_1483-932insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCTCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCATCGCGCCCGGCCCAGTCTCTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	11/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6590224	T T	TAAGAGAC others(311): Show TAAGAGACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGAAAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0008 a0001c0038t0008	a0001c0038t0008g0124 a0001c0038t0008g0124	1	342	0.0029	318	c.148 others(335): Show c.1483-933_1483-932insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTTTCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTCTCTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	11/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6590224	T T	TAAGAGAC others(311): Show TAAGAGACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGAGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0153 a0001c0013t0001g0153	1	342	0.0029	318	c.148 others(335): Show c.1483-933_1483-932insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCTCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTCTCTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	11/24			chr9	TogoVar
GLIS1_chr1_53501239_53744164	53647599	T T	TAAAACAG others(311): Show TAAAACAGCCAAGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0003 a0004c0027t0003	a0004c0027t0003g0004 a0004c0027t0003g0004	1	236	0.0042	318	c.260 others(337): Show c.260-47322_260-47321insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGCTTGGCTGTTTT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(311): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGC TGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCC CCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCC CCGCCCCTCCCCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	318	c.31 others(329): Show c.3138_*3139insGGGGGGAGGGGAGGGGCGGGGCGGCACGGGGCCA GGGGCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCA CACGGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCA CGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GPC6_chr13_93221807_94413020	93468468	T T	TAAAGAAG others(311): Show TAAAGAAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01884.hp1 HG02451.hp2 others(4): Show HG01256.hp2 HG01884.hp1 HG02451.hp2 HG03579.hp1 HG04228.hp1 NA18522.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 others(3): Show a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0029 a0001c0001t0035 a0003c0004t0003	a0001c0001t0010g0051 a0001c0001t0015g0036 a0001c0001t0016g0018 others(4): Show a0001c0001t0010g0051 a0001c0001t0015g0036 a0001c0001t0016g0018 a0001c0001t0029g0007 a0001c0001t0035g0073 a0003c0004t0003g0054 a0003c0004t0003g0058	7	76	0.0921	318	c.161 others(337): Show c.161-76786_161-76785insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR107_chr9_130048906_130145164	130067672	T T	TAATATTA others(311): Show TAATATTAAACTTCTTTTTTTTTTTTTTTGAGAGGAGTCTCGCTCTGTTG CCCAGGCCGGACTGCGGACTGCAGTAGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TAATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	306	0.0033	318	c.142 others(335): Show c.142-7949_142-7948insTTTTTTTTTTTTTGAGAGGAGTCTCGCT CTGTTGCCCAGGCCGGACTGCGGACTGCAGTAGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTAATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCCCAATATTAAACTTCTT	GPR107	ENSG00000148358.21	transcript	ENST00000347136.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
GPR157_chr1_9095305_9134102	9116228	A A	ATTATATA others(311): Show ATTATATATATAATATAATTATATATATTATATATATTATATATAATATA ATTATATTAATTATATTATATATAATTATATATAATTATATTATATATAT TATATATAATATAATTATATATAATTATATTATATATAATATATATAATA TAATTATATTATATATATATTATATTATATATAATTATATATAATTATAT TATATATTATATGTAATATAAATATATATTATATTATATATATTATATGT AATATAATTATATATATTTATATTATATATTATATATAATATAATATATA TAATTATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0058 a0003c0006t0058	a0003c0006t0058g0321 a0003c0006t0058g0321	1	404	0.0025	318	c.384 others(335): Show c.384-4740_384-4739insATAATATATATTATAATTATATATATTA TATTATATATAATATATAATATAAATATATATAATTATATTACATATAAT ATATATAATATAATATATATTTATATTACATATAATATATAATATAATTA TATATAATTATATATAATATAATATATATATAATATAATTATATTATATA TATTATATATAATATAATTATATATAATTATATTATATATAATATATATA ATATAATTATATATAATTATATATAATATAATTAATATAATTATATTATA TATAATATATATAATATATATAATTATATTATATATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR160_chr3_170032995_170090392	170081258	T T	TAAGACCA others(311): Show TAAGACCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00673.hp1 others(3): Show HG00408.hp1 HG00423.hp2 HG00673.hp1 HG03831.hp2 NA18960.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0269 others(3): Show a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0276 a0001c0001t0018g0265	6	356	0.0169	318	c.-69 others(335): Show c.-69+1372_-69+1373insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACCAATGG	GPR160	ENSG00000173890.17	transcript	ENST00000355897.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
GREB1L_chr18_21237232_21531112	21526315	T T	TTGAGTTA others(311): Show TTGAGTTAAAGCATCTACTTCAGTGACTATGACAATAGATGATGGTATTA AGTTAAAAAAAAAAAAAAAAAAGGCAACACCAGTAAGTTCTTTTCTGACC ACTTCATTCCACATATTTTATTTTTACTAGTCCAGTGTATTTTATTTTTA CCAGAACCTCTGAGTCTAGGAGAATACTACTCTAACACTGAAACCTTGGC TTCACTGAAAACAAAACAACAACAGTAAAAATACTGCTAAAGATGACTTT AGGAATTGCCGCTAAGGCCAAAGAAAAAGTCATTCACATAATAAATTCAC TGTGCTCTCAACTATCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0124 a0001c0001t0025g0124	1	148	0.0068	318	c.34 others(329): Show c.3494_*3495insTGAGTTAAAGCATCTACTTCAGTGACTATGACAA TAGATGATGGTATTAAGTTAAAAAAAAAAAAAAAAAAGGCAACACCAGTA AGTTCTTTTCTGACCACTTCATTCCACATATTTTATTTTTACTAGTCCAG TGTATTTTATTTTTACCAGAACCTCTGAGTCTAGGAGAATACTACTCTAA CACTGAAACCTTGGCTTCACTGAAAACAAAACAACAACAGTAAAAATACT GCTAAAGATGACTTTAGGAATTGCCGCTAAGGCCAAAGAAAAAGTCATTC ACATAATAAATTCACTGTGCTCTCAACTATCAAG	GREB1L	ENSG00000141449.16	transcript	ENST00000424526.7	protein_coding		204		chr18	TogoVar
GRIK1_chr21_29531933_29944996	29916651	A A	AAACAGTT others(311): Show AAACAGTTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp2 NA20129.hp2 HG02258.hp1 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0002t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0002t0001g0152	3	162	0.0185	318	c.118 others(337): Show c.118+22731_118+22732insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAGAACTGTT	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK2_chr6_101388708_102075083	101972577	T T	TAATTTGG others(311): Show TAATTTGGTCCTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	116	0.0086	318	c.208 others(339): Show c.2085+43962_2085+43963insTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAATTTGGTCCTACTTTT	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRM5_chr11_88499642_89070982	89033335	T T	TTGTTTTT others(311): Show TTGTTTTTATTTTTATTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG03209.hp1 others(3): Show HG02451.hp2 HG02886.hp1 HG03209.hp1 NA18522.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0010	a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0003g0178 others(3): Show a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0003g0178 a0001c0001t0004g0175 a0001c0001t0006g0177 a0001c0002t0010g0174	6	184	0.0326	318	c.661 others(337): Show c.661+13876_661+13877insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAATAAATAAAAATAAAAACA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	2/9			chr11	TogoVar
GRM5_chr11_88499642_89070982	89033335	T T	TTGTTTTT others(311): Show TTGTTTTTATTTTTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20300.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0156 a0001c0001t0010g0180 a0001c0001t0001g0156 a0001c0001t0010g0180	2	184	0.0109	318	c.661 others(337): Show c.661+13876_661+13877insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAATAAAAATAAAAACA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	2/9			chr11	TogoVar
GRM7_chr3_6856115_7746533	7572895	C C	CGGGCGTG others(311): Show CGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC AGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAG CCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	80	0.0125	318	c.151 others(337): Show c.1516-5527_1516-5526insGGGCGTGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCA GAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9			chr3	TogoVar
GRWD1_chr19_48440983_48462022	48453642	T T	TCAGGACC others(311): Show TCAGGACCCAGTTTTGTTTATTTTATTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGTGCGTGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0003 a0001c0002t0050g0003	1	434	0.0023	318	c.63 others(327): Show c.632_*633insTTTATTTTATTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGTGCGTGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAGGACCCAGTTTTG	GRWD1	ENSG00000105447.13	transcript	ENST00000253237.10	protein_coding	7/7	633	INFO_REALIGN_3_PRIME	chr19	TogoVar
GULP1_chr2_188286874_188600926	188298290	T T	TCTCACGC others(311): Show TCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18973.hp1 NA18959.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0103 a0001c0001t0001g0104	2	162	0.0124	318	c.-17 others(337): Show c.-172+6124_-172+6125insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(311): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG GCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01496.hp2 others(5): Show HG01123.hp1 HG01168.hp1 HG01496.hp2 HG01516.hp2 HG02486.hp2 HG02622.hp2 HG03927.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0354 a0001c0001t0001g0356 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0374 a0001c0001t0002g0373	8	410	0.0195	318	c.-43 others(329): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCGCTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(311): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp1 HG02074.hp2 others(11): Show HG01928.hp2 HG01952.hp1 HG02074.hp2 HG02273.hp1 HG04199.hp1 NA18612.hp2 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0123 a0001c0001t0001g0124 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134	14	428	0.0327	318	c.187 others(335): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HCAR2_chr12_122696293_122708357	122707046	A A	AGACAAAC others(311): Show AGACAAACAGATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCTCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	428	0.0023	318	c.-37 others(329): Show c.-3764_-3763insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAATCTGTTTGTC	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3690		chr12	TogoVar
HEATR4_chr14_73473484_73563947	73518034	C C	CGAGATCA others(311): Show CGAGATCACGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTTTATC TCAAAAACAAAGCCAGGTTGTGTGGAAATCCTGTGGCTGTCCACAGCTGT CTGGCGGGTGCCTCCACAGCAGGCACAGAATGTGCCTGTGCCTCCAAGGA TAGACTGAGCCCAGGGAAGGACTTCTTGCCAAGTGGATGCAAAGGCACAA CTAGCAGGCCAGGCAACCCTGTCAGCCAGGTGTGGAGGCATGCACCTGTG ATTCCAGCTACCCTGGAGGCTGAGGCAGGGGAATTGCTTGAACCAGGAAG ATGGAGGTTGCAGTGAGCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	368	0.0027	318	c.121 others(335): Show c.1210+671_1210+988dupTGCTCACTGCAACCTCCATCTTCCTGGT TCAAGCAATTCCCCTGCCTCAGCCTCCAGGGTAGCTGGAATCACAGGTGC ATGCCTCCACACCTGGCTGACAGGGTTGCCTGGCCTGCTAGTTGTGCCTT TGCATCCACTTGGCAAGAAGTCCTTCCCTGGGCTCAGTCTATCCTTGGAG GCACAGGCACATTCTGTGCCTGCTGTGGAGGCACCCGCCAGACAGCTGTG GACAGCCACAGGATTTCCACACAACCTGGCTTTGTTTTTGAGATAAAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGTGATCTC	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
HEXA_chr15_72335924_72381014	72347196	G G	GCAGAAAT others(311): Show GCAGAAATAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0099 a0001c0001t0014g0099	1	354	0.0028	318	c.114 others(335): Show c.1147-487_1147-486insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG	HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding	10/13			chr15	TogoVar
HMG20A_chr15_77415888_77490603	77469237	T T	TAAGAACA others(311): Show TAAGAACATACAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	366	0.0027	318	c.451 others(335): Show c.451-1659_451-1658insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACATACAAAC	HMG20A	ENSG00000140382.15	transcript	ENST00000336216.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
HNF1B_chr17_37681431_37750059	37712436	T T	TTAAATGA others(311): Show TTAAATGAAGCCTTCTTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAA AAAAAAAAAAAAATAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG03130.hp1 others(1): Show HG02622.hp2 HG03041.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0263 a0001c0001t0005g0395 a0001c0001t0005g0396 others(1): Show a0001c0001t0002g0263 a0001c0001t0005g0395 a0001c0001t0005g0396 a0001c0001t0009g0008	4	409	0.0098	318	c.104 others(337): Show c.1046-1774_1046-1773insTTTTTATTTTTTTTTTTTTTTTGAGA CAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCAAGAAGGCTTCATTTA	HNF1B	ENSG00000275410.6	transcript	ENST00000617811.5	protein_coding	4/8			chr17	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(311): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA18949.hp1 NA18979.hp1 others(1): Show HG03688.hp1 NA18949.hp1 NA18979.hp1 NA19002.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0001 a0001c0001t0018 a0005c0003t0026 a0001c0001t0001 a0001c0001t0018 a0005c0003t0026	a0001c0001t0001g0001 a0001c0001t0018g0022 a0005c0003t0026g0038 a0001c0001t0001g0001 a0001c0001t0018g0022 a0005c0003t0026g0038	4	348	0.0115	318	c.53 others(329): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HPCAL1_chr2_10297904_10432604	10399457	C C	CCACCATC others(311): Show CCACCATCACCATCATCACCACCACCACCACCACCATCACCACCACCATC ACCATCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCA CCACCATCACCACCACCATCATCACCACCATCACCACCGCCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCAC CACCACCATCATCACCACCATCACCACCACCATCATCACCACCATCATCA CCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	314	0.0032	318	c.-25 others(335): Show c.-25+2542_-25+2543insTCACCATCATCACCACCACCACCACCAC CATCACCACCACCATCACCATCACCACCACCATCACCACCGCCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCATC ACCACCACCATCATCACCACCATCACCACCACCATCATCACCACCATCAC CACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATC ATCACCACCATCATCACCACCATCACCACCACCATCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HRH1_chr3_11149493_11268557	11162479	G G	GAAAAGAA others(311): Show GAAAAGAACTACTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG01069.hp1 others(39): Show HG00609.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01361.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp2 HG02145.hp2 HG02451.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG06807.hp1 NA18747.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18962.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18991.hp1 NA18999.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0007 a0001c0004t0009 a0002c0003t0008	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 others(39): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0046 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0003g0114 a0001c0001t0003g0123 a0001c0001t0003g0132 a0001c0001t0004g0061 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0006g0060 a0001c0001t0006g0125 a0001c0001t0006g0128 a0001c0002t0007g0058 a0001c0002t0007g0059 a0001c0004t0009g0126 a0001c0004t0009g0127 a0001c0004t0009g0129 a0002c0003t0008g0051 a0002c0003t0008g0054 a0002c0003t0008g0055 a0002c0003t0008g0056 a0002c0003t0008g0103	42	352	0.1193	318	c.-36 others(335): Show c.-36+7932_-36+7933insCTACTGTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11162479	G G	GAAAAGAA others(311): Show GAAAAGAACTACTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATT AGCCGGGTGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	352	0.0028	318	c.-36 others(335): Show c.-36+7932_-36+7933insCTACTGTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAA AAATACAAAAAATTAGCCGGGTGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11162479	G G	GAAAAGAA others(311): Show GAAAAGAACTACTGTCGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00558.hp1 others(28): Show HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp2 HG01256.hp2 HG01433.hp1 HG01981.hp1 HG02135.hp2 HG02622.hp1 HG02683.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp2 NA18946.hp2 NA18955.hp1 NA18960.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA19065.hp2 NA19081.hp2 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0010t0002	a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 others(28): Show a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0003g0085 a0001c0001t0004g0074 a0001c0001t0004g0095 a0001c0001t0011g0137 a0001c0001t0014g0086 a0001c0010t0002g0091	31	352	0.0881	318	c.-36 others(335): Show c.-36+7932_-36+7933insCTACTGTCGGCCGGGTGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT GCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HS3ST3A1_chr17_13489032_13606929	13605039	T T	TGCACAGC others(311): Show TGCACAGCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0294 a0002c0003t0007g0294	1	338	0.0030	318	c.-39 others(329): Show c.-3911_-3910insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAGAAGAAGCTGTGC	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding		3111		chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25903792	T T	TAAACAAT others(311): Show TAAACAATACGCACGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp2 HG02258.hp2 HG02886.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0030 a0003c0004t0003 a0002c0002t0030 a0003c0004t0003	a0002c0002t0030g0142 a0003c0004t0003g0164 a0002c0002t0030g0142 a0003c0004t0003g0164	2	164	0.0122	318	c.734 others(339): Show c.734+210654_734+210655insGGCCGGGCGTGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACAATACGCAC	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B3_chr9_96230306_96307176	96301414	T T	TAAAAATA others(311): Show TAAAAATACAAAACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	374	0.0027	318	c.154 others(333): Show c.154+536_154+537insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCGTTTTGTATTTTT	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	1/10			chr9	TogoVar
HSD17B7_chr1_162785702_162817823	162791518	G G	GCATTTGG others(311): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGT GAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(159): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0002c0003t0001 a0004c0008t0001 a0005c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0016 others(76): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0002g0158 a0001c0001t0006g0027 a0001c0001t0007g0016 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0047 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0002t0001g0157 a0002c0003t0001g0015 a0002c0003t0001g0113 a0002c0003t0001g0117 a0002c0003t0001g0132 a0002c0003t0001g0134 a0002c0003t0001g0149 a0004c0008t0001g0026 a0005c0007t0001g0156	162	420	0.3857	318	c.35+ others(331): Show c.35+697_35+698insTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGG CGTGAGCCACCGCGCCCGGCCACATTTGGCATTTTT	HSD17B7	ENSG00000132196.16	transcript	ENST00000254521.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321847	C C	CATATATG others(311): Show CATATATGCAACATACATATGTGGAACCAATACATATATGCAACATACAT ATGTGGAACCAATACATATATGCAACATACATATGTGGAACCAATACATA TATGCAACATACATATGTGGAACCAATACATATATGCAACATACATATGT GGAACCAATACATATATGCAACATACATATGTGGAACCAATACATATATG CAACATACATATGTGGAACCAATACATATATGCAACATACATATGTGGAA CCAATACATATATGCAACATACATATGTGGAACCAATACATATATGCAAC ATATATATGTGGAACCAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	323	0.0031	318	c.-32 others(329): Show c.-3209_-3208insATATATGCAACATACATATGTGGAACCAATACAT ATATGCAACATACATATGTGGAACCAATACATATATGCAACATACATATG TGGAACCAATACATATATGCAACATACATATGTGGAACCAATACATATAT GCAACATACATATGTGGAACCAATACATATATGCAACATACATATGTGGA ACCAATACATATATGCAACATACATATGTGGAACCAATACATATATGCAA CATACATATGTGGAACCAATACATATATGCAACATACATATGTGGAACCA ATACATATATGCAACATATATATGTGGAACCAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3122		chr21	TogoVar
IKZF1_chr7_50299716_50410101	50405578	T T	TCCCTAGT others(311): Show TCCCTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGACCACAGGCG TGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02132.hp1 NA19091.hp2 others(1): Show HG01361.hp1 HG02132.hp1 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0043 a0001c0001t0005 a0001c0001t0043	a0001c0001t0005g0202 a0001c0001t0005g0210 a0001c0001t0005g0216 others(1): Show a0001c0001t0005g0202 a0001c0001t0005g0210 a0001c0001t0005g0216 a0001c0001t0043g0154	4	286	0.0140	318	c.49 others(329): Show c.4951_*4952insCCCTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGACCACAGGCGTGAGCCACCGCGCCCGGCC	IKZF1	ENSG00000185811.21	transcript	ENST00000331340.8	protein_coding		478		chr7	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(311): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAATATATAATA TATAATATATAATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	366	0.0027	318	c.-36 others(329): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTATATATATTATATGTAATATATAATATATAAT ATATAATATATAATATATAATATATAATATATAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(311): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATACATATATTATA TATCATATATAATATATGTATATATTATATATCATATATAATATATGTAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATATGATATATAATACATACATATAT ATGATATATAATACATACA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	141	0.0071	318	c.772 others(337): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATGTATATATTATATATCATATATAATATATACATATATT ATATATCATATATAATATATACATATATTATATATCATATATATGATATA TAATACATACATATATATGATATATAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(311): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATTATATGTAATATATAATATATAATATATAATATATAATA TATAATATATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	348	0.0029	318	c.84 others(327): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTATATATATTATATGTAATATATAATATATAATAT ATAATATATAATATATAATATATAATATATAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar

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