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
DDX51_chr12_132131594_132149319	132148904	C C	CGCCGCCT others(170): Show CGCCGCCTCGCTCACCACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0019 a0005c0007t0011g0019	1	334	0.0030	177	c.-46 others(188): Show c.-4609_-4608insCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGG CGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGG CACTCACCGAGGGGATTAGGGGTGTGGTGGTGAGCGAGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4586		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(170): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCC CCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCT CCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCC CCTCTCCCCCTCCCCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01074.hp2 others(11): Show HG00140.hp2 HG00741.hp2 HG01074.hp2 HG01192.hp1 HG01257.hp1 HG01891.hp2 HG02040.hp1 HG02280.hp1 HG02602.hp2 HG02683.hp1 HG03239.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 others(8): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028	a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0010g0101 others(11): Show a0001c0001t0010g0089 a0001c0001t0010g0090 a0001c0001t0010g0101 a0001c0001t0011g0097 a0001c0001t0012g0086 a0001c0001t0012g0087 a0001c0001t0015g0088 a0001c0001t0016g0085 a0001c0001t0019g0096 a0001c0001t0020g0081 a0001c0001t0024g0091 a0001c0001t0025g0077 a0001c0001t0026g0083 a0001c0001t0028g0095	14	284	0.0493	177	c.101 others(196): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCC C	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(170): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTTCCCCTCTCCCCCTCTCC CCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCT CCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCC CCTCTCCCCCTCCCCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02698.hp2 HG01168.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0027 a0001c0001t0022 a0001c0001t0027	a0001c0001t0022g0099 a0001c0001t0027g0098 a0001c0001t0022g0099 a0001c0001t0027g0098	2	284	0.0070	177	c.101 others(196): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCTTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCC C	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	429404	C C	CCCCCCCG others(170): Show CCCCCCCGGACCCTGGCTGCCTCCCCCCCGGACCCTGGCTGCCTCCCCCC CCGGACCCTGGCTGCCTCCCCCCCCGGACCCTGGCTGCCTCCCCCCCGGA CCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGG CTGCCTCCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	88	0.0114	177	c.395 others(194): Show c.395-6372_395-6371insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGG TCCGGGGGGGAGGCAGCCAGGGTCCGGGGGGGGAGGCAGCCAGGGTCCGG GGGGGGAGGCAGCCAGGGTCCGGGGGGGAGGCAGCCAGGGTCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429405	C C	CCCCCCGG others(170): Show CCCCCCGGACCCTGGCTGCCTCCCCCCCCGGACCCTGGCTGCCTCCCCCC CCGGGCCCTGGCTGCCTCCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGG CCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGG CTGCCTCCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	177	c.395 others(194): Show c.395-6373_395-6372insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGG CCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGGAGGCAGCCAGGGCCCGG GGGGGGAGGCAGCCAGGGTCCGGGGGGGGAGGCAGCCAGGGTCCGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429427	C C	CCCCCCCC others(170): Show CCCCCCCCGGGCCCTGGCTGCCTCCCCCCCCGGGCCCTGGCTGCCTCCCC CCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGG CCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGG CTGCCTCCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	88	0.0114	177	c.395 others(194): Show c.395-6395_395-6394insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGG CCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGG GGGGAGGCAGCCAGGGCCCGGGGGGGGAGGCAGCCAGGGCCCGGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1351996	G G	GTGTGGAA others(170): Show GTGTGGAAAGGACGTGCGCGTCCTGCGTGTGGCGTGGAAAGGCCATGCGG ATCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGACTGTGTGTGGAAA GGCCGTGCGGGTCCTGACTGTGTTTGGAAAGGCCGTGCAGGTCCTGACTG TGTTTGGAAAGGCCGTGCGGGTCCTGAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	177	c.106 others(196): Show c.106+93123_106+93124insACGTGCGCGTCCTGCGTGTGGCGTGG AAAGGCCATGCGGATCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGA CTGTGTGTGGAAAGGCCGTGCGGGTCCTGACTGTGTTTGGAAAGGCCGTG CAGGTCCTGACTGTGTTTGGAAAGGCCGTGCGGGTCCTGACTGTGGAAAG G	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123911596	G G	GGGGGGTC others(170): Show GGGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGG TCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTG TCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTG GGGGGTTTGTCCTGGGGGGGTTTGTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0042 a0042	a0042c0075 a0042c0075	a0042c0075t0001 a0042c0075t0001	a0042c0075t0001g0124 a0042c0075t0001g0124	1	170	0.0059	177	c.101 others(196): Show c.10134+929_10134+930insTCTGTCCCAGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCT GTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTC CTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGG G	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK10_chr2_224760090_225047468	225018608	T T	TATATATG others(170): Show TATATATGTAATATTATATATAATATATATGTAATATTACATATATATAT AATATATATGTAATATTATATATATAATATATATGTAATATTATATATAT ATAATATATATGTAATATTATATATATAATATATATGTAATATTATATAT ATAATATATATGTAATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	172	0.0058	177	c.123 others(196): Show c.123+23643_123+23644insTATATATATAATATTACATATATATT ATATATATAATATTACATATATATTATATATATAATATTACATATATATT ATATATATATAATATTACATATATATTATATATATAATATTACATATATA TTATATATATATGTAATATTACATATATATTATATATAATATTACATATA T	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK8_chr9_209865_470255	400409	C C	CCACCACC others(170): Show CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTC CACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCA CCATCACCACCTCCTTCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01496.hp1 HG01943.hp2 others(3): Show HG01081.hp2 HG01496.hp1 HG01943.hp2 HG01952.hp1 HG02273.hp2 HG02293.hp1	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0017 a0035	a0001c0003 a0003c0001 a0003c0004 others(3): Show a0001c0003 a0003c0001 a0003c0004 a0009c0017 a0017c0124 a0035c0128	a0001c0003t0001 a0003c0001t0001 a0003c0004t0001 others(3): Show a0001c0003t0001 a0003c0001t0001 a0003c0004t0001 a0009c0017t0003 a0017c0124t0001 a0035c0128t0003	a0001c0003t0001g0108 a0003c0001t0001g0138 a0003c0004t0001g0161 others(3): Show a0001c0003t0001g0108 a0003c0001t0001g0138 a0003c0004t0001g0161 a0009c0017t0003g0212 a0017c0124t0001g0205 a0035c0128t0003g0247	6	256	0.0234	177	c.323 others(196): Show c.3234+1157_3234+1158insTCCACCACCACCAGCATCTTCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCC ACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCAC C	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400946	A A	ACCTCCTC others(170): Show ACCTCCTCCACCATCACCACCTCCTTCACCATCACCACCACCTCCACCAT CACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCT TCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCACCTCCACCACCATCACCACCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0152 a0003c0001t0001g0152	1	256	0.0039	177	c.323 others(196): Show c.3234+1687_3234+1688insCCTCCTCCACCATCACCACCTCCTTC ACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATCACCACC T	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCCCTGC others(170): Show CTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01981.hp2 HG03491.hp2 HG00673.hp2 HG01981.hp2 HG03491.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0194 a0002c0002t0001g0182 a0004c0005t0001g0181 a0001c0001t0001g0194 a0002c0002t0001g0182 a0004c0005t0001g0181	3	250	0.0120	177	c.-10 others(196): Show c.-107+5245_-107+5246insTCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA G	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DYRK2_chr12_67643745_67670406	67652996	A A	ATTTTTTT others(170): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAACTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0039 a0001c0001t0027g0039	1	390	0.0026	177	c.198 others(194): Show c.198+3056_198+3057insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT	DYRK2	ENSG00000127334.11	transcript	ENST00000344096.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIPR1_chr2_3183970_3382818	3187735	C C	CGCACCCC others(170): Show CGCACCCCCTCCCCACGGCCTCCCCACCAGCGTGCCCCTCCCCACAGCCC CACCCACCTGCATTCCCCTCCCCACTCCTCACCCACCTATGCACCCCTCC CCACGGCCCCCCAACCAGCGTGTCCCTCCCCACAGCCCCACCCACCTGCA TTCCCCTCCCCACTCCTCACCCACCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	250	0.0040	177	c.15 others(188): Show c.1598_*1599insATAGGTGGGTGAGGAGTGGGGAGGGGAATGCAGG TGGGTGGGGCTGTGGGGAGGGACACGCTGGTTGGGGGGCCGTGGGGAGGG GTGCATAGGTGGGTGAGGAGTGGGGAGGGGAATGCAGGTGGGTGGGGCTG TGGGGAGGGGCACGCTGGTGGGGAGGCCGTGGGGAGGGGGTGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		1234		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3187735	C C	CGCACCCC others(170): Show CGCACCCCTCCCCACGGCCTCCCCACCAGCGTGTCCCTCCCCACAGCCCC ACCCACCTGCATTCCCCTCCCCACTCCTCACCCACCTATGCACCCCTCCC CACGGCCCCCCCAACCAGCGTGCCCCTCCCCACAGCCCCACCCACCTGCA TTCCCCTCCCCACTCCTCACCCACCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	250	0.0040	177	c.15 others(188): Show c.1598_*1599insATAGGTGGGTGAGGAGTGGGGAGGGGAATGCAGG TGGGTGGGGCTGTGGGGAGGGGCACGCTGGTTGGGGGGGCCGTGGGGAGG GGTGCATAGGTGGGTGAGGAGTGGGGAGGGGAATGCAGGTGGGTGGGGCT GTGGGGAGGGACACGCTGGTGGGGAGGCCGTGGGGAGGGGTGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		1234		chr2	TogoVar
ELMO1_chr7_36847906_37453864	37292779	G G	GGGAGGTG others(170): Show GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0039 a0001c0002t0011g0039	1	92	0.0109	177	c.193 others(196): Show c.193-20898_193-20897insTTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC C	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
EML1_chr14_99788413_99947060	99928162	T T	TGGTGGTG others(170): Show TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0049 a0001c0004t0003g0049	1	288	0.0035	177	c.190 others(196): Show c.1909+7296_1909+7297insTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTG G	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERBB3_chr12_56075165_56108505	56075791	C C	CCCCCCCA others(170): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCCGAC GGGGCGGCTGATCGGGCGAGGGGCTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 NA19067.hp1 HG01978.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0016 a0001c0002t0002g0077 a0001c0001t0004g0016 a0001c0002t0002g0077	2	392	0.0051	177	c.-45 others(188): Show c.-4510_-4509insCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCCGACGGGGCGGCTGATCGGGCGAGGGGCTGAA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4373		chr12	TogoVar
ERBB3_chr12_56075165_56108505	56075811	C C	CGGGGCGG others(170): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCCACCTCCCTCCCCGACGGGGCGGCTGATCGGGCGAG GGGCTGAACCCCCACCTCCCTCCCGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01981.hp2 HG01993.hp2 others(4): Show HG00438.hp1 HG01981.hp2 HG01993.hp2 HG02602.hp2 HG04184.hp1 HG04184.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0099 a0001c0001t0001g0174 a0001c0001t0001g0242 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0174 a0001c0001t0001g0242 a0001c0001t0001g0327 a0001c0001t0022g0128 a0001c0002t0001g0049 a0001c0002t0002g0076	7	392	0.0179	177	c.-44 others(188): Show c.-4490_-4489insGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCCGACGGGGC GGCTGATCGGGCGAGGGGCTGAACCCCCACCTCCCTCCCGGAT	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4353		chr12	TogoVar
ERBB3_chr12_56075165_56108505	56075811	C C	CGGGGGCG others(170): Show CGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCCGACGGGGCGGCTGATCGGGCGAG GGGCTGAACCCCCACCTCCCTCCCGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	392	0.0026	177	c.-44 others(188): Show c.-4490_-4489insGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCCGACGGGGC GGCTGATCGGGCGAGGGGCTGAACCCCCACCTCCCTCCCGGAT	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4353		chr12	TogoVar
ERBB3_chr12_56075165_56108505	56075828	C C	CAGAGGGG others(170): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCCGACGGGGCGGCTGATCGGGCGAGGGGCTGAACCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG03710.hp1 HG01175.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0173 a0001c0001t0001g0002 a0001c0001t0001g0173	2	392	0.0051	177	c.-44 others(188): Show c.-4473_-4472insAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCCGACGGGGCGGCTGATCGGGCGAGGGG CTGAACCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4336		chr12	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(170): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp1 NA19030.hp1 HG02647.hp2 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0005g0051 a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0005g0051	3	102	0.0294	177	c.187 others(196): Show c.1871+1109_1871+1110insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTT T	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(170): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCTGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02055.hp2 others(2): Show HG00639.hp1 HG01884.hp2 HG02055.hp2 HG02896.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0005t0007 a0001c0005t0011 others(2): Show a0001c0004t0004 a0001c0005t0007 a0001c0005t0011 a0001c0005t0012 a0001c0005t0013	a0001c0004t0004g0082 a0001c0005t0007g0025 a0001c0005t0011g0043 others(2): Show a0001c0004t0004g0082 a0001c0005t0007g0025 a0001c0005t0011g0043 a0001c0005t0012g0024 a0001c0005t0013g0045	5	102	0.0490	177	c.187 others(196): Show c.1871+1109_1871+1110insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCTGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTT T	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(170): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(42): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00738.hp1 HG01071.hp2 HG01099.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01943.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18954.hp1 NA18983.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19065.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0005t0007 a0001c0006t0010	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0031 others(42): Show a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0002g0003 a0001c0001t0002g0050 a0001c0001t0002g0100 a0001c0001t0003g0004 a0001c0001t0003g0032 a0001c0001t0003g0057 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0095 a0001c0001t0005g0034 a0001c0001t0005g0040 a0001c0001t0006g0059 a0001c0001t0009g0001 a0001c0001t0009g0046 a0001c0001t0017g0094 a0001c0001t0019g0085 a0001c0004t0001g0009 a0001c0004t0001g0016 a0001c0004t0001g0041 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0072 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0002g0029 a0001c0004t0002g0030 a0001c0004t0004g0037 a0001c0004t0004g0044 a0001c0004t0008g0028 a0001c0005t0007g0069 a0001c0006t0010g0035 a0001c0006t0010g0084	45	102	0.4412	177	c.187 others(196): Show c.1871+1109_1871+1110insTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTT T	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(170): Show ATTTTTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	102	0.0098	177	c.187 others(196): Show c.1871+1103_1871+1104insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCGCGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTG T	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
FLT3_chr13_27998274_28105576	28065648	A A	ATAATAAT others(170): Show ATAATAATAATAATAATAATAATAATAATCCAGGTGTGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTA GGAGGTTGAGGCTGAAGTGAGCTATGTTTGTGTCACTGCACTCCAGCCTG GACAACGGAGCGAGATCTTGTCTCAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02698.hp1 NA20129.hp1 HG01433.hp2 HG02698.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0125 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0125	3	292	0.0103	177	c.166 others(194): Show c.166-3580_166-3579insCTTTGAGACAAGATCTCGCTCCGTTGTC CAGGCTGGAGTGCAGTGACACAAACATAGCTCACTTCAGCCTCAACCTCC TAGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCACACCTGGATTATTATTATTATTATTATTATTATTA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23			chr13	TogoVar
FLT3_chr13_27998274_28105576	28065651	A A	ATAATAAT others(170): Show ATAATAATAATAATAATAATAATAATAATCCAGGTGTGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTA GGAGGTTGAGGCTGAAGTGAGCTATGTTTGTGTCACTGCACTCCAGCCTG GACAACGGAGCGAGATCTTGTCTCAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02135.hp2 NA18973.hp1 HG02129.hp1 HG02135.hp2 NA18973.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0030 a0004c0005 a0001c0001 a0001c0030 a0004c0005	a0001c0001t0001 a0001c0030t0001 a0004c0005t0001 a0001c0001t0001 a0001c0030t0001 a0004c0005t0001	a0001c0001t0001g0168 a0001c0030t0001g0106 a0004c0005t0001g0255 a0001c0001t0001g0168 a0001c0030t0001g0106 a0004c0005t0001g0255	3	292	0.0103	177	c.166 others(194): Show c.166-3583_166-3582insCTTTGAGACAAGATCTCGCTCCGTTGTC CAGGCTGGAGTGCAGTGACACAAACATAGCTCACTTCAGCCTCAACCTCC TAGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCACACCTGGATTATTATTATTATTATTATTATTATTA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23			chr13	TogoVar
FLT4_chr5_180596506_180654600	180615596	T T	TGGTCACC others(170): Show TGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCGCCGGTCA CCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCC TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGCCCGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG03239.hp1 others(6): Show HG00423.hp2 HG00558.hp2 HG03239.hp1 NA18747.hp1 NA18939.hp2 NA18950.hp2 NA19056.hp1 NA19070.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0002c0008 a0001c0009 a0002c0002 a0002c0008	a0001c0009t0002 a0002c0002t0001 a0002c0002t0003 others(3): Show a0001c0009t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0018 a0002c0008t0004	a0001c0009t0002g0114 a0002c0002t0001g0072 a0002c0002t0001g0120 others(6): Show a0001c0009t0002g0114 a0002c0002t0001g0072 a0002c0002t0001g0120 a0002c0002t0001g0255 a0002c0002t0003g0076 a0002c0002t0004g0014 a0002c0002t0004g0203 a0002c0002t0018g0109 a0002c0008t0004g0324	9	388	0.0232	177	c.321 others(194): Show c.3219+770_3219+771insGGCGGGCCCAGTGCTCCAAAAGGAAGTG GAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAA GGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGG TGACCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1317032	C C	CCCCCTCC others(170): Show CCCCCTCCCCCCCGCCCCCCCACCCCCCCTCCCGCCCCCCCCCTCCAGCC TACCCCTCCCCCCCGCCCCCCCCGCCCACCCCCCCTCCGCCGCCTCCCCC CCAGCCTACCCCCCTCCCCCCCCGCCCACCCCCCCTCCTCCCCGCCCCCC CTCCAGCCTACCCCTCCCCCCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0015 a0008c0009t0015	a0008c0009t0015g0000 a0008c0009t0015g0000	1	406	0.0025	177	c.31 others(188): Show c.3116_*3117insCCCCTCCCCCCCGCCCCCCCACCCCCCCTCCCGC CCCCCCCCTCCAGCCTACCCCTCCCCCCCGCCCCCCCCGCCCACCCCCCC TCCGCCGCCTCCCCCCCAGCCTACCCCCCTCCCCCCCCGCCCACCCCCCC TCCTCCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCCACCCAT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2275		chr6	TogoVar
GABRG3_chr15_26966181_27546984	27388246	A A	AAAGGAAG others(170): Show AAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAA GAAGGAAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGTGGGA GGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGGA GGGAGGGTAAGGAAGGAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0024 a0001c0002t0013g0024	1	92	0.0109	177	c.574 others(196): Show c.574+59480_574+59481insGAAAGGAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAAGGGAGGGAGG GAAAAGAAGGAAGGAAGGAAAGGTGGGAGGGAGGGTAAGGAAGGAAGGAA G	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAK_chr4_844277_937316	903543	T T	TGGGTGAG others(170): Show TGGGTGAGCAGGAGTTGGGGGCCTGGGCCAACACCACTGGGGGGCTGAGG AAGGAGCGTGGGATGAGCAGGAATGCGGGGCCTGAACTGACACCACCGGG GGACTGAGGAAGGAGCGTGGGGTGAGCAGGAGTGCGGGGCCTATAGTGAC ACCACCAGGGGACTGAGGAAGGAGCGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0347 a0001c0042t0001g0347	1	390	0.0026	177	c.525 others(194): Show c.525+1093_525+1094insCACGCTCCTTCCTCAGTCCCCTGGTGGT GTCACTATAGGCCCCGCACTCCTGCTCACCCCACGCTCCTTCCTCAGTCC CCCGGTGGTGTCAGTTCAGGCCCCGCATTCCTGCTCATCCCACGCTCCTT CCTCAGCCCCCCAGTGGTGTTGGCCCAGGCCCCCAACTCCTGCTCACCC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GALNT17_chr7_71127144_71718599	71680620	C C	CTTCCTCC others(170): Show CTTCCTCCCTCCCTTTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCTCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTTTCTTCCTCCCTCCCTCTCTCCCT CCCTCCCTCTCTCCCTTCCTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	76	0.0132	177	c.150 others(196): Show c.1500+3315_1500+3316insTCCTCCCTCCCTTTCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCT CCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTT CTTCCTCCCTCCCTCTCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTTCCT T	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALR1_chr18_77244848_77282900	77252947	C C	CCACCACC others(170): Show CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0030 a0003c0005t0012g0030	1	366	0.0027	177	c.666 others(194): Show c.666+1735_666+1736insCCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77258594	G G	GTGGTGGT others(170): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGT GGTGGTCATGGTGGTGATGGTGATGGTGGTGGGTGGTGATGGTGGTGGTG GTCATGTGGTGGTGGTGGTGATGATGGCCATGGTGGTGATGGTAGTGATG GTGGTGATGATGGTGGTGATGATGGTCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0305 a0001c0001t0015g0305	1	366	0.0027	177	c.732 others(194): Show c.732+2378_732+2379insGGTGATGGTGGTGATGGTGGTGGTGGTC ATAGTGGTGGTGGTGGTGGTCATGGTGGTGATGGTGATGGTGGTGGGTGG TGATGGTGGTGGTGGTCATGTGGTGGTGGTGGTGATGATGGCCATGGTGG TGATGGTAGTGATGGTGGTGATGATGGTGGTGATGATGGTCATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAP43_chr3_115618510_115726483	115698212	A A	AAATATAT others(170): Show AAATATATAATATATAATATATAATATATATAAAATATATATAATATATA ATATATAATATATATAAAATATATATAATATATAATATATAATATATATA AAATATATATAATATATAATATATAATATATATAAAATATATATAATATA TAATATATAATATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01074.hp1 others(6): Show HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01255.hp1 HG01517.hp1 HG01993.hp2 HG02738.hp1 HG03669.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0003g0062 a0001c0001t0003g0125 others(6): Show a0001c0001t0001g0051 a0001c0001t0003g0062 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0284 a0001c0001t0003g0316	9	352	0.0256	177	c.628 others(196): Show c.628+21624_628+21625insATATATATAAAATATATATAATATAT AATATATAATATATATAAAATATATATAATATATAATATATAATATATAT AAAATATATATAATATATAATATATAATATATATAAAATATATATAATAT ATAATATATAATATATATAAAATATATATAATATATAATATATAATATAT A	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GNG7_chr19_2506219_2707694	2639971	G G	GGGGGAGG others(170): Show GGGGGAGGGAGGGAAGGAAGAAAGAAGAGAGGGAGGGAAGGAGGGAGGGG GAGGGAGGAAGGGAGGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGAGA GGGAAGGAGGGAGGGAGAAAGGAAGGAGGGAGTGAAGGAAGAAAGGAAGG AGGGAGAGAGGAAGGAGGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG03453.hp2 others(1): Show HG01884.hp1 HG02486.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0032 a0001c0001t0065 others(1): Show a0001c0001t0018 a0001c0001t0032 a0001c0001t0065 a0001c0001t0082	a0001c0001t0018g0014 a0001c0001t0032g0001 a0001c0001t0065g0021 others(1): Show a0001c0001t0018g0014 a0001c0001t0032g0001 a0001c0001t0065g0021 a0001c0001t0082g0015	4	206	0.0194	177	c.-78 others(194): Show c.-78+6252_-78+6253insTCCTTCCTTCCCTCCTTCCTCTCTCCCT CCTTCCTTTCTTCCTTCACTCCCTCCTTCCTTTCTCCCTCCCTCCTTCCC TCTCTCCCTCCCTCCTTCCTTCCTTTCTTCCTTCCCTCCCTTCCTCCCTC CCCCTCCCTCCTTCCCTCCCTCTCTTCTTTCTTCCTTCCCTCCCTCCCC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG8_chr19_46628953_46641202	46635646	G G	GTGGGGTG others(170): Show GTGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTGTGGGGTGGGAG AGGATGGAGGAGATGGACGGATGGGGTGGAGAGGATGGGGAGATGGAGGG AGGGGGTGTGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTGTGGG GTGGGAGAGGATGGAGGAGATGGACGGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	438	0.0023	177	c.-44 others(192): Show c.-44+500_-44+501insTCCGTCCATCTCCTCCATCCTCTCCCACCC CACACCCCCTCCCTCCATCTCCCCATCCTCTCCCACCCCACACCCCCTCC CTCCATCTCCCCATCCTCTCCACCCCATCCGTCCATCTCCTCCATCCTCT CCCACCCCACACCCCCTCCCTCCATCTCCCCATCCTCTCCCACCCCA	GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	1/2			chr19	TogoVar
GPR157_chr1_9095305_9134102	9116182	A A	ATATATAA others(170): Show ATATATAATATAATTATATATATTTATATTATATATATTATATATAATTA TATATATTTATATTATATATATTATATATAATTATATATAATATATTATA TATTATATGTAATATAAATATATATAATATATTATATATATTATATGTAA TATAATTATATATATTTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0318 a0001c0001t0064g0318	1	404	0.0025	177	c.384 others(194): Show c.384-4694_384-4693insATATATAATATAAATATATATAATTATA TTACATATAATATATATAATATATTATATATATTTATATTACATATAATA TATAATATATTATATATAATTATATATAATATATATAATATAAATATATA TAATTATATATAATATATATAATATAAATATATATAATTATATTATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(170): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp1 HG01257.hp1 others(5): Show HG01074.hp2 HG01123.hp1 HG01257.hp1 HG01261.hp1 HG01496.hp1 HG01975.hp1 HG02056.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0002t0051	a0001c0001t0001g0098 a0001c0001t0001g0171 a0001c0001t0004g0052 others(5): Show a0001c0001t0001g0098 a0001c0001t0001g0171 a0001c0001t0004g0052 a0001c0001t0007g0201 a0001c0001t0011g0101 a0001c0001t0011g0112 a0001c0001t0018g0239 a0001c0002t0051g0189	8	282	0.0284	177	c.375 others(196): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(170): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0242 a0001c0001t0074g0242	1	282	0.0036	177	c.375 others(196): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAA G	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GREM2_chr1_240484573_240617155	240512504	C C	CAGTTTCT others(170): Show CAGTTTCTTAAAGTGAGCTTCCCTGACCAGTAATATAAACATCATCCGAG AACTTGTTAAAAACGCACATTTTGTGCCACCCCCCAGACCTACTAAATGA GAAACCTGTGAAAGAGATGAGGTGCTTTGGAGCCCAGCAATCTGTATTTT AACAAGCTCTCCAGATAATTCTGGTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01071.hp2 others(18): Show HG00639.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG02602.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0023 a0001c0001t0050 a0001c0001t0051	a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0176 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0176 a0001c0001t0002g0191 a0001c0001t0002g0232 a0001c0001t0003g0012 a0001c0001t0003g0034 a0001c0001t0003g0252 a0001c0001t0005g0070 a0001c0001t0005g0076 a0001c0001t0005g0100 a0001c0001t0006g0144 a0001c0001t0008g0064 a0001c0001t0008g0075 a0001c0001t0008g0106 a0001c0001t0009g0116 a0001c0001t0011g0057 a0001c0001t0020g0077 a0001c0001t0023g0058 a0001c0001t0050g0110 a0001c0001t0051g0113	21	376	0.0559	177	c.-1- others(194): Show c.-1-19029_-1-19028insAAAACCAGAATTATCTGGAGAGCTTGTT AAAATACAGATTGCTGGGCTCCAAAGCACCTCATCTCTTTCACAGGTTTC TCATTTAGTAGGTCTGGGGGGTGGCACAAAATGTGCGTTTTTAACAAGTT CTCGGATGATGTTTATATTACTGGTCAGGGAAGCTCACTTTAAGAAACT	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GREM2_chr1_240484573_240617155	240512504	C C	CAGTTTCT others(170): Show CAGTTTCTTAAAGTGAGCTTCCCTGACCAGTAATATAAACATCATCCGAG AACTTGTTAGAAACGCACATTTTGTGCCACCCCCCAGACCTACTAAATGA GAAACCTGTGAAAGAGATGAGGTGCTTTGGAGCCCAGCAATCTGTATTTT AACAAGCTCTCCAGATAATTCTGGTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(233): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0001t0055	a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0031 others(233): Show a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0277 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0344 a0001c0001t0001g0348 a0001c0001t0001g0355 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0258 a0001c0001t0002g0265 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0288 a0001c0001t0002g0304 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0336 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0367 a0001c0001t0002g0373 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0155 a0001c0001t0003g0164 a0001c0001t0003g0173 a0001c0001t0003g0195 a0001c0001t0003g0242 a0001c0001t0003g0256 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0003g0283 a0001c0001t0003g0287 a0001c0001t0003g0302 a0001c0001t0003g0315 a0001c0001t0003g0321 a0001c0001t0003g0326 a0001c0001t0003g0346 a0001c0001t0004g0096 a0001c0001t0004g0131 a0001c0001t0004g0141 a0001c0001t0004g0159 a0001c0001t0004g0177 a0001c0001t0004g0247 a0001c0001t0004g0334 a0001c0001t0005g0010 a0001c0001t0005g0013 a0001c0001t0005g0016 a0001c0001t0005g0037 a0001c0001t0005g0048 a0001c0001t0005g0065 a0001c0001t0005g0079 a0001c0001t0005g0093 a0001c0001t0005g0114 a0001c0001t0005g0120 a0001c0001t0005g0254 a0001c0001t0005g0268 a0001c0001t0006g0019 a0001c0001t0006g0092 a0001c0001t0006g0097 a0001c0001t0006g0142 a0001c0001t0006g0179 a0001c0001t0006g0198 a0001c0001t0006g0209 a0001c0001t0006g0270 a0001c0001t0006g0364 a0001c0001t0006g0365 a0001c0001t0006g0366 a0001c0001t0007g0196 a0001c0001t0007g0205 a0001c0001t0007g0207 a0001c0001t0007g0214 a0001c0001t0007g0294 a0001c0001t0007g0316 a0001c0001t0007g0356 a0001c0001t0008g0011 a0001c0001t0008g0015 a0001c0001t0008g0028 a0001c0001t0008g0036 a0001c0001t0008g0071 a0001c0001t0008g0115 a0001c0001t0008g0132 a0001c0001t0008g0137 a0001c0001t0008g0246 a0001c0001t0008g0306 a0001c0001t0009g0017 a0001c0001t0009g0073 a0001c0001t0009g0099 a0001c0001t0009g0111 a0001c0001t0009g0112 a0001c0001t0009g0123 a0001c0001t0009g0231 a0001c0001t0009g0259 a0001c0001t0010g0067 a0001c0001t0010g0102 a0001c0001t0010g0107 a0001c0001t0010g0124 a0001c0001t0010g0146 a0001c0001t0010g0147 a0001c0001t0010g0255 a0001c0001t0011g0008 a0001c0001t0011g0117 a0001c0001t0011g0122 a0001c0001t0012g0087 a0001c0001t0012g0186 a0001c0001t0012g0203 a0001c0001t0012g0227 a0001c0001t0012g0337 a0001c0001t0012g0372 a0001c0001t0013g0183 a0001c0001t0013g0248 a0001c0001t0013g0354 a0001c0001t0014g0082 a0001c0001t0014g0085 a0001c0001t0014g0126 a0001c0001t0014g0358 a0001c0001t0015g0243 a0001c0001t0016g0003 a0001c0001t0016g0004 a0001c0001t0017g0001 a0001c0001t0017g0005 a0001c0001t0018g0303 a0001c0001t0018g0330 a0001c0001t0019g0066 a0001c0001t0020g0253 a0001c0001t0021g0072 a0001c0001t0021g0074 a0001c0001t0022g0266 a0001c0001t0022g0313 a0001c0001t0023g0251 a0001c0001t0024g0006 a0001c0001t0025g0002 a0001c0001t0026g0069 a0001c0001t0027g0121 a0001c0001t0028g0138 a0001c0001t0030g0368 a0001c0001t0031g0035 a0001c0001t0032g0023 a0001c0001t0033g0133 a0001c0001t0034g0250 a0001c0001t0035g0218 a0001c0001t0037g0206 a0001c0001t0038g0192 a0001c0001t0040g0184 a0001c0001t0041g0352 a0001c0001t0044g0335 a0001c0001t0046g0217 a0001c0001t0047g0136 a0001c0001t0049g0090 a0001c0001t0053g0091 a0001c0001t0055g0376	236	376	0.6277	177	c.-1- others(194): Show c.-1-19029_-1-19028insAAAACCAGAATTATCTGGAGAGCTTGTT AAAATACAGATTGCTGGGCTCCAAAGCACCTCATCTCTTTCACAGGTTTC TCATTTAGTAGGTCTGGGGGGTGGCACAAAATGTGCGTTTCTAACAAGTT CTCGGATGATGTTTATATTACTGGTCAGGGAAGCTCACTTTAAGAAACT	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GRM5_chr11_88499642_89070982	88687571	A A	ATTATATA others(170): Show ATTATATATATATTATATATATATAATATATATATTATATATATATTATA TATATTATATATATATTATATATATATAATATATATATTATATATATATT ATATATATATTATATATATATTATATATATATAATATATATATTATATAT ATATTATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0144 a0001c0001t0020g0144	1	184	0.0054	177	c.912 others(196): Show c.912-34169_912-34168insATATATATATATATAATATATATAAT ATATATATAATATATATATTATATATATATAATATATATATAATATATAT ATAATATATATATAATATATATATTATATATATATAATATATATATAATA TATATAATATATATATAATATATATATTATATATATATAATATATATATA A	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRTP1_chr13_113319163_113369130	113346818	A A	AGTGGACC others(170): Show AGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTC TGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCG GGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	288	0.0035	177	c.466 others(194): Show c.466-1860_466-1859insCAGCCACAGAGGTCCTCCCGGGTCCACT GTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCC CGGGTCTGCTCTTGTCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACA GAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCAC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653279	T T	TCCCCCCT others(170): Show TCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCCTCC TCCTCCTCCCCCCTCCCCCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0274 a0001c0002t0005g0274	1	290	0.0035	177	c.427 others(192): Show c.427-997_427-996insCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCCTCCTC CTCCTCCCCCCCCCTCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169751	A A	AATATATT others(170): Show AATATATTGTATATTATATAATATATTGTATATTATATATTATATAATAT ATAATATACAATATATTATATAATATATAATATACAATATATTATATATT ATATAATATATTGTATATTATATATTATATAATATATTGTATATTATATA TTGTATATTATATAATATATTGTATATT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0157 a0001c0001t0122g0157	1	384	0.0026	177	c.-34 others(192): Show c.-34-700_-34-699insATATATTGTATATTATATATTATATAATAT ATAATATACAATATATTATATAATATATAATATACAATATATTATATATT ATATAATATATTGTATATTATATATTATATAATATATTGTATATTATATA TTGTATATTATATAATATATTGTATATTATATATTGTATATTATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
HERC3_chr4_88587480_88713539	88699285	T T	TTCCCCAC others(170): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCCTCCCC ACCCACCCACCCAGCCCCACCCTCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01109.hp2 others(14): Show HG00639.hp1 HG01071.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp1 HG02055.hp2 HG02071.hp1 HG02818.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0004 a0001c0001t0008 a0001c0005t0004 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0005t0004 a0001c0007t0004	a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 others(14): Show a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0180 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0008g0028 a0001c0001t0008g0141 a0001c0005t0004g0091 a0001c0007t0004g0121	17	296	0.0574	177	c.265 others(196): Show c.2658-4786_2658-4785insCACTCATCGACCCAGCTCCACCCTCT TCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCCCTAC CCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCC ACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCCCACC C	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(170): Show ATATATAAATATATATAATATATAAATATATAAATATATAACATATAAAT ATATATAATATATAAATATATATATAACATATAAATATATATAATATATA AATATATATATAACATATAAATATATATAAATATATAAATATATATATAA CATATAAATATATATAATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0050 a0008c0009t0001g0050	1	174	0.0058	177	c.199 others(192): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AAATATATAACATATAAATATATATAATATATAAATATATATATAACATA TAAATATATATAATATATAAATATATATATAACATATAAATATATATAAA TATATAAATATATATATAACATATAAATATATATAATATATAAATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HRH3_chr20_62209960_62225278	62213708	C C	CGGGGATG others(170): Show CGGGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGGAAGGAGAGTGGGGA TGGGTGGGGGAAGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGG GGGAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGG GAGAGCAGGGATGGGGGGGAAGGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	177	c.22 others(188): Show c.2297_*2298insACTCTCCTTCCCCCCCATCCCTGCTCTCCCTCCC CCATCCCCGCTCTCCTTCCCCCACCCATCCCCGCTCTCCTTCCCCCCCAT CCCTGCTCTCCCTTCCCCCATCCCCGCTCTCCTTCCCCCACCCATCCCCA CTCTCCTTCCCCCCCCATCCTTGCTCTCCCTTCCCCCATCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1251		chr20	TogoVar
HS3ST6_chr16_1906475_1923415	1920165	C C	CGGTCTCA others(170): Show CGGTCTCAGCAGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCATC CCCACGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCACCACGGTCTGAGT CCCCACGGTCTCAGCTGTTCCCACGGTCTCAGGAGTCCCCACAGTCTCAG CTATCCCCACGGTCTCAGCCATCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	433	0.0023	177	c.-18 others(188): Show c.-1843_-1842insACGGGGATGGCTGAGACCGTGGGGATAGCTGAGA CTGTGGGGACTCCTGAGACCGTGGGAACAGCTGAGACCGTGGGGACTCAG ACCGTGGTGACGGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGATGGC TGAGACCGTGGGGGCTCCTGAGACCGTGGGGACTGCTGAGACC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1751		chr16	TogoVar

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