Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(227): Show ATATATGTGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATATATGTGTATAT ATATATATATATGTGTATATATATATATATATATATGTGTATATATATGT GTATATATATATATATATATATATATGTGTATATATATATATATATATAT ATATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0242 a0002c0002t0013g0242	1	334	0.0030	234	c.290 others(249): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATATATGTGTATATATATATATATATGTGTATATATATATATATATA TATGTGTATATATATGTGTATATATATATATATATATATATATGTGTATA TATATATATATATATATATATGTGTATATATATATATATATATATATATA TGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC1_chr11_30858603_31374739	31213104	T T	TCTCTCTC others(227): Show TCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0110 a0002c0003t0001g0110	1	152	0.0066	234	c.122 others(255): Show c.1221+28345_1221+28346insGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGAG	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31213118	T T	TCTCTCTC others(227): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0008 a0001c0024t0008	a0001c0024t0008g0084 a0001c0024t0008g0084	1	152	0.0066	234	c.122 others(255): Show c.1221+28331_1221+28332insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DEPDC1B_chr5_60591912_60705166	60668061	T T	TTATATAT others(227): Show TTATATATATATAAAATGGATATTTTATATATATATATAAAATGGATATT TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	292	0.0034	234	c.314 others(253): Show c.314+18900_314+18901insTAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATA TATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668137	T T	TTATATAT others(227): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAA TGGATATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19079.hp1 NA18954.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	292	0.0069	234	c.314 others(253): Show c.314+18824_314+18825insTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668158	A A	ATTTTATA others(227): Show ATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGG ATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAAT GGATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAA ATGGATATTTTATATATATATATAAAATGGATATTTTATATATATATAAA ATGGATATTTTATATATATATATAAAATGGATATT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	292	0.0034	234	c.314 others(253): Show c.314+18803_314+18804insAATATCCATTTTATATATATATATAA AATATCCATTTTATATATATATAAAATATCCATTTTATATATATATATAA AATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATAT AAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATAT ATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATAT ATATAAAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGAT1_chr8_144309584_144331852	144313660	G G	GCGCCTCC others(227): Show GCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCC CCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCG CCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCAC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	370	0.0027	234	c.28 others(245): Show c.2893_*2894insGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGTGCGGGGAGGCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGCGGGGAG GCGGGGCGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGTGCG GGGAGGCGGTGCGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		923		chr8	TogoVar
DIDO1_chr20_62872743_62931505	62875302	C C	CCACCCGC others(227): Show CCACCCGCACCGGCACCCCCACCCGCACCCCCACCCGCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC GCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCCCACCCGC ACCCGCACCCTCACCCCCACCCCCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG01346.hp1 HG00140.hp1 HG01168.hp1 HG01346.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0248 a0003c0006t0001g0249 a0003c0006t0001g0252 a0003c0006t0001g0248 a0003c0006t0001g0249 a0003c0006t0001g0252	3	320	0.0094	234	c.39 others(245): Show c.3930_*3931insAGGGTGGGGGTGGGGGTGGGGGTGAGGGTGCGGG TGCGGGTGGGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGGTGGGGGTG CGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGCCGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2440		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(227): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	284	0.0035	234	c.101 others(253): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	418107	A A	ACCTGTTC others(227): Show ACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGCACCTGT CAGAGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGAGCTCGGAC AGGCCTCCCTGTCTGCCTGCGCCTGTCAGAGCTCGGACAGGCCTCCCTGT CCACCTACACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCCT GTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	88	0.0114	234	c.739 others(249): Show c.739+957_739+958insAACAGGTGGACAGGGAGGCCTATCGAAGCC CTGACAGGAACAGGTGGACAGGGAGGCCTGTCCGCGCCCTGACAGGTGTA GGTGGACAGGGAGGCCTGTCCGAGCTCTGACAGGCGCAGGCAGACAGGGA GGCCTGTCCGAGCTCTGACAGGTGCAGGTGGACAGGGAGGCCTATCCGAG CTCTGACAGGTGCAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAA CAGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GAGAGGAG others(227): Show GAGAGGAGGGGAGGGGAGGGGAGGGAAGAAGAAGGGAGGGGAGGGGAGAA GAAGGGAGGGGAGGGGAGGGGAGAAGGGAGAAGAAGGGAAGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAA GGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGG GCGGGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	88	0.0114	234	c.158 others(251): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTC CCCTCCCTTCCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTCCCCTCCCCTCCCC TCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTTCCCTCCCCTCCCCTCCCC TCCTCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLEC1_chr3_38034208_38129025	38084551	G G	GGTGGTGG others(227): Show GGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAG TAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATA GTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTAGTAGTGGTAGTAGT AGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGG TGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0027 a0027	a0027c0048 a0027c0048	a0027c0048t0001 a0027c0048t0001	a0027c0048t0001g0195 a0027c0048t0001g0195	1	298	0.0034	234	c.126 others(251): Show c.1261+308_1261+309insGGTGGTGGTGGTAGTGGTGGTGGTGGTA GTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGT GGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTG TGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTG GTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGT AATAGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1255835	G G	GTATGTGT others(227): Show GTATGTGTCCTCTCCTGCCTGGGTGCTTTGTGTGTCCTCTCATGCCTGGG TGCTGTGTGTGTGCCCTCTCATCCTGCGTGGGTGCTGTGTGTGTGTCCTC TCATCCTGCCTGGGTGCTGTGTGTGTCCTCTCATGCCCGGGTGCTGTGTG TGTGCCCTCTCCTGCCCGGGAGCTGTGTGTGTGTCCTCTCCTGCCTGGGA GCTGTGTGTGTGTCCTCTCCTGCCCGAGCACTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG01891.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0024 a0002c0007t0008 a0001c0003t0024 a0002c0007t0008	a0001c0003t0024g0003 a0002c0007t0008g0040 a0001c0003t0024g0003 a0002c0007t0008g0040	2	40	0.0500	234	c.74- others(249): Show c.74-3015_74-3014insATGTGTCCTCTCCTGCCTGGGTGCTTTGTG TGTCCTCTCATGCCTGGGTGCTGTGTGTGTGCCCTCTCATCCTGCGTGGG TGCTGTGTGTGTGTCCTCTCATCCTGCCTGGGTGCTGTGTGTGTCCTCTC ATGCCCGGGTGCTGTGTGTGTGCCCTCTCCTGCCCGGGAGCTGTGTGTGT GTCCTCTCCTGCCTGGGAGCTGTGTGTGTGTCCTCTCCTGCCCGAGCACT GTAT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(227): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0011 a0011	a0011c0049 a0011c0049	a0011c0049t0001 a0011c0049t0001	a0011c0049t0001g0073 a0011c0049t0001g0073	1	126	0.0079	234	c.199 others(253): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAH10_chr12_123757301_123940714	123911548	G G	GGGGGGTC others(227): Show GGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCCAGGGGATC TGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGACTGTCCT GGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGGGGG GGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGTTTG TCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0086 a0002c0011t0001g0086	1	170	0.0059	234	c.101 others(253): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH17_chr17_78418697_78582396	78478107	C C	CATCTCCA others(227): Show CATCTCCACCATCACCACCACGTGGCATCATCACATCACCATCATCACCA TTACCACCATAACATCACCATCATCACCATTATCACCATCATATCACCAC CACCATCACTATCATCATAACTATCACCACCACCACCATCACCACATCAC CATCACCATCATCACCACCATCATCACCACCATCACCATTATCACCACCA CCATCACCACCACCACCACCACCACCACCACCATT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02280.hp1 HG02622.hp2	a0051 a0101 a0051 a0101	a0051c0158 a0101c0211 a0051c0158 a0101c0211	a0051c0158t0001 a0101c0211t0001 a0051c0158t0001 a0101c0211t0001	a0051c0158t0001g0097 a0101c0211t0001g0135 a0051c0158t0001g0097 a0101c0211t0001g0135	2	252	0.0079	234	c.799 others(251): Show c.7992+917_7992+918insAATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGATAATGGTGATGGTGGTGATGATGGTGGTGATGAT GGTGATGGTGATGTGGTGATGGTGGTGGTGGTGATAGTTATGATGATAGT GATGGTGGTGGTGATATGATGGTGATAATGGTGATGATGGTGATGTTATG GTGGTAATGGTGATGATGGTGATGTGATGATGCCACGTGGTGGTGATGGT GGAGAT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78478107	C C	CATCTCCA others(227): Show CATCTCCACCATCACCACCACGTGGCATCATCACATCACCATCATCACCA TTACCACCATAACATCACCATCATCACCATTATCACCATCATATCACCAC CACCATCACTATCATCATAACTATCACCACCACCACCATCATCACCACAT CACCATCATCACCACCATCATCACCACCATCACCATTATCACCACCACCA TCACCACCACCACCACCACCACCACCACCATCATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(37): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01168.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02300.hp1 HG02738.hp1 HG02738.hp2 HG03654.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA19062.hp2 NA19066.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0013 a0014 a0017 a0020 a0043 a0048 a0059 a0067 a0078 a0088 a0105 a0109 a0121 a0127 a0129 a0144	a0001c0001 a0001c0064 a0001c0114 others(28): Show a0001c0001 a0001c0064 a0001c0114 a0002c0089 a0003c0083 a0003c0189 a0004c0036 a0004c0100 a0005c0119 a0005c0186 a0006c0010 a0006c0052 a0007c0151 a0008c0129 a0009c0140 a0013c0012 a0014c0062 a0017c0009 a0020c0013 a0043c0118 a0048c0117 a0059c0061 a0067c0056 a0078c0139 a0088c0096 a0105c0175 a0109c0047 a0121c0148 a0127c0035 a0129c0149 a0144c0030	a0001c0001t0001 a0001c0001t0003 a0001c0064t0001 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0064t0001 a0001c0114t0001 a0002c0089t0001 a0003c0083t0001 a0003c0189t0001 a0004c0036t0001 a0004c0100t0001 a0005c0119t0001 a0005c0186t0001 a0006c0010t0001 a0006c0052t0001 a0007c0151t0001 a0008c0129t0001 a0009c0140t0001 a0013c0012t0002 a0014c0062t0001 a0017c0009t0001 a0020c0013t0001 a0043c0118t0001 a0048c0117t0001 a0059c0061t0003 a0067c0056t0001 a0078c0139t0001 a0088c0096t0001 a0105c0175t0002 a0109c0047t0001 a0121c0148t0001 a0127c0035t0001 a0129c0149t0001 a0144c0030t0001	a0001c0001t0001g0055 a0001c0001t0001g0159 a0001c0001t0001g0178 others(37): Show a0001c0001t0001g0055 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0236 a0001c0001t0003g0249 a0001c0064t0001g0189 a0001c0114t0001g0154 a0002c0089t0001g0037 a0003c0083t0001g0152 a0003c0189t0001g0199 a0004c0036t0001g0215 a0004c0100t0001g0170 a0005c0119t0001g0020 a0005c0186t0001g0086 a0006c0010t0001g0209 a0006c0010t0001g0220 a0006c0052t0001g0088 a0007c0151t0001g0214 a0008c0129t0001g0162 a0009c0140t0001g0071 a0013c0012t0002g0222 a0013c0012t0002g0223 a0014c0062t0001g0193 a0017c0009t0001g0061 a0017c0009t0001g0062 a0020c0013t0001g0167 a0020c0013t0001g0184 a0043c0118t0001g0063 a0048c0117t0001g0034 a0059c0061t0003g0251 a0067c0056t0001g0070 a0078c0139t0001g0160 a0088c0096t0001g0043 a0105c0175t0002g0049 a0109c0047t0001g0091 a0121c0148t0001g0096 a0127c0035t0001g0040 a0129c0149t0001g0218 a0144c0030t0001g0051	40	252	0.1587	234	c.799 others(251): Show c.7992+917_7992+918insAATGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGATGATGGTGGTGAT GATGGTGATGTGGTGATGATGGTGGTGGTGGTGATAGTTATGATGATAGT GATGGTGGTGGTGATATGATGGTGATAATGGTGATGATGGTGATGTTATG GTGGTAATGGTGATGATGGTGATGTGATGATGCCACGTGGTGGTGATGGT GGAGAT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DNAI7_chr12_25103289_25200160	25106528	T T	TCAGACTC others(227): Show TCAGACTCTGTCTCTTAAATATATATATATTATATATACATGTATTTATA TATATGCACACATATAAAATATATAATATGTGCACATATATAAAATATGT GTATTATTAAATATGTATTATATAAATACATAATATATGCATAATATATA TGTGTATATAATCTATAAATATGTGTATATATAATATATATTTTTAATAT GTGTATATATAATATATATTTTTTTAAGAGACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0213 a0002c0002t0001g0213	1	336	0.0030	234	c.20 others(245): Show c.2019_*2020insTCTGTCTCTTAAAAAAATATATATTATATATACA CATATTAAAAATATATATTATATATACACATATTTATAGATTATATACAC ATATATATTATGCATATATTATGTATTTATATAATACATATTTAATAATA CACATATTTTATATATGTGCACATATTATATATTTTATATGTGTGCATAT ATATAAATACATGTATATATAATATATATATATTTAAGAGACAGAGTCTG	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1760		chr12	TogoVar
DOCK1_chr10_126900428_127457516	126948220	G G	GGTAGTTG others(227): Show GGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0130 a0001c0005t0012g0130	1	136	0.0074	234	c.47- others(251): Show c.47-22480_47-22479insAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400074	C C	CATCACCT others(227): Show CATCACCTCCACCACCTCCACCACCTCCACCATCACCACCACCTCCACCA TCACCATCACCACCACCACCGCCACCATCACCACCTCCTTCACCATCACC ATCACCTCCACCACCTCCACCACCTCCACCATCACCACCACCTCCACCAT CACCATCACCACCACCACCGCCACCATCACCACCACCTCCACCATCACCA CCTCCTTCACCATCACCATCACCACCACCTCCACT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0027 a0027	a0027c0101 a0027c0101	a0027c0101t0007 a0027c0101t0007	a0027c0101t0007g0055 a0027c0101t0007g0055	1	256	0.0039	234	c.323 others(251): Show c.3234+821_3234+822insTCCACCACCTCCACCACCTCCACCATCA CCACCACCTCCACCATCACCATCACCACCACCACCGCCACCATCACCACC TCCTTCACCATCACCATCACCTCCACCACCTCCACCACCTCCACCATCAC CACCACCTCCACCATCACCATCACCACCACCACCGCCACCATCACCACCA CCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACT ATCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400556	T T	TCCACCAC others(227): Show TCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCACCTCCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCTCCACCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0051 a0051	a0051c0129 a0051c0129	a0051c0129t0004 a0051c0129t0004	a0051c0129t0004g0144 a0051c0129t0004g0144	1	256	0.0039	234	c.323 others(253): Show c.3234+1297_3234+1298insCCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCTCCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400946	A A	ACCTCCAC others(227): Show ACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCA CCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0080 a0001c0061t0001g0080	1	256	0.0039	234	c.323 others(253): Show c.3234+1687_3234+1688insCCTCCACCACCAGCACTTCCACCATC ACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCAC CACCTCCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOT1L_chr19_2158933_2237578	2200832	C C	CGCATTCC others(227): Show CGCATTCCTCGTCCTCCCCTCATTCCTCATCTTCCCTGTATTCCTCTTCC TCCCCGCATTCTTCATCCTCCCCTCATTCCTCGTCCTCCCCGTATTCCTC ATCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCTCATT CCTCGTCGTCCCCTCATTCCTCGTCGTCCCCTCATTCCTCGTCCTCCCCG CATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18990.hp1 NA19012.hp1 NA18948.hp2 NA18990.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0047 a0001c0006t0001g0048 a0001c0006t0001g0053 a0001c0001t0001g0047 a0001c0006t0001g0048 a0001c0006t0001g0053	3	378	0.0079	234	c.707 others(251): Show c.707+1067_707+1068insGTCCCCTCATTCCTCGTCCTCCCCGCAT TCCTCGTCCTCCCCGCATTCCTCGTCCTCCCTGCATTCCTCGTCCTCCCC TCATTCCTCATCTTCCCTGTATTCCTCTTCCTCCCCGCATTCTTCATCCT CCCCTCATTCCTCGTCCTCCCCGTATTCCTCATCCTCCCCGCATTCCTCG TCCTCCCCGCATTCCTCGTCCTCCCCTCATTCCTCGTCGTCCCCTCATTC CTCGTC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2200832	C C	CGCATTCC others(227): Show CGCATTCCTCGTCCTCCCCTCATTCCTCATCTTCCCTGTATTCCTCTTCC TCCCCGCATTCTTCATCCTCCCCTCATTCCTCGTCCTCCCCGTATTCCTC ATCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCTCATT CCTCGTCGTCCCCTCATTCCTCGTCGTCCCCTCATTCCTCGTCCTCCCTG CATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	378	0.0027	234	c.707 others(251): Show c.707+1067_707+1068insGTCCCCTCATTCCTCGTCCTCCCTGCAT TCCTCGTCCTCCCCGCATTCCTCGTCCTCCCTGCATTCCTCGTCCTCCCC TCATTCCTCATCTTCCCTGTATTCCTCTTCCTCCCCGCATTCTTCATCCT CCCCTCATTCCTCGTCCTCCCCGTATTCCTCATCCTCCCCGCATTCCTCG TCCTCCCCGCATTCCTCGTCCTCCCCTCATTCCTCGTCGTCCCCTCATTC CTCGTC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89619597	T T	TCCCCTCC others(227): Show TCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	250	0.0040	234	c.-10 others(253): Show c.-107+5882_-107+5883insTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137567490	A A	ACTCTGTC others(227): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	340	0.0029	234	c.641 others(251): Show c.641-2337_641-2336insAGTCACCCCGGGGAGCTTCCTCACAGAC AGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCC TCACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGA GCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCAC CCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCACAG ACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP3_chr11_66475434_66514657	66512073	T T	TGTATATG others(227): Show TGTATATGTGTATATATGTATATATATGTATATATATGTATATATATGTA TATATATGTGTATATATATGTATATATGTATATATGTGTGTATATATATG TATATATATGTATATATATGTGTATATATATGTATATATATGTATATATG TGTGTATATATATGTATATATATGTATATATGTGTGTATATATATGTATA TATATGTATATATGTGTGTATATATGTATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02630.hp2 others(2): Show HG01884.hp1 HG02572.hp1 HG02630.hp2 HG02886.hp1 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0006 a0004c0005t0001 a0004c0005t0006	a0004c0005t0001g0027 a0004c0005t0001g0123 a0004c0005t0001g0143 others(1): Show a0004c0005t0001g0027 a0004c0005t0001g0123 a0004c0005t0001g0143 a0004c0005t0006g0122	5	348	0.0144	234	c.28 others(245): Show c.2822_*2823insGTATATGTGTATATATGTATATATATGTATATAT ATGTATATATATGTATATATATGTGTATATATATGTATATATGTATATAT GTGTGTATATATATGTATATATATGTATATATATGTGTATATATATGTAT ATATATGTATATATGTGTGTATATATATGTATATATATGTATATATGTGT GTATATATATGTATATATATGTATATATGTGTGTATATATGTATATATAC	DPP3	ENSG00000254986.8	transcript	ENST00000531863.6	protein_coding		2417		chr11	TogoVar
DPP6_chr7_154047398_154899285	154656251	G G	GGGGGGAG others(227): Show GGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGAGC TGGGAGAAGGGGCAGTCGAGAGGGAGGTGAGGGGAGAGCTGGGAGAAGGG GCAGTCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAG GGAGGTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGCTCGGGG GAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	234	c.681 others(253): Show c.681-13071_681-13070insGGGGGGAGAGCTGGGAGAAGGGGCAG TCGAGAGGGAGGTGAGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAG GTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGA GCTGGGAGAAGGGGCAGTCGAGAGGGAGCTCGGGGGAGAGCTGGGAGAAG GGGCAGTCGAGAGGGAGCTCGGGGGAGAGCTGGGAGAAGGGGCAGTCGAG AGGGAGGT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154656251	G G	GGGGGGAG others(227): Show GGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGAGC TGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAGGG GCAGTCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAG GGAGGTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGG GAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02280.hp1 HG02965.hp2 HG01952.hp2 HG02280.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0012 a0001c0003 a0002c0004 a0002c0012	a0001c0003t0007 a0002c0004t0006 a0002c0012t0021 a0001c0003t0007 a0002c0004t0006 a0002c0012t0021	a0001c0003t0007g0024 a0002c0004t0006g0028 a0002c0012t0021g0035 a0001c0003t0007g0024 a0002c0004t0006g0028 a0002c0012t0021g0035	3	38	0.0790	234	c.681 others(253): Show c.681-13071_681-13070insGGGGGGAGAGCTGGGAGAAGGGGCAG TCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAG GTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGA GCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAG GGGCAGTCGAGAGGGAGCTCGGGGGAGAGCTGGGAGAAGGGGCAGTCGAG AGGGAGGT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154656427	G G	GGGCAGTC others(227): Show GGGCAGTCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAG AGGGAGCTCGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGG GGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGAGCTGG GAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAGGGGCA GTCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01952.hp1 HG00558.hp1 HG00673.hp1 HG01952.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0001c0017 a0002c0013 a0001c0016 a0001c0017 a0002c0013	a0001c0016t0013 a0001c0017t0020 a0002c0013t0018 a0001c0016t0013 a0001c0017t0020 a0002c0013t0018	a0001c0016t0013g0014 a0001c0017t0020g0033 a0002c0013t0018g0026 a0001c0016t0013g0014 a0001c0017t0020g0033 a0002c0013t0018g0026	3	38	0.0790	234	c.681 others(253): Show c.681-12926_681-12925insGAGAGGGAGGTGGGGGGAGAGCTGGG AGAAGGGGCAGTCGAGAGGGAGCTCGGGGGAGAGCTGGGAGAAGGGGCAG TCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAG GTGGGGGGAGAGCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGA GCTGGGAGAAGGGGCAGTCGAGAGGGAGGTGGGGGGAGAGCTGGGAGAAG AGGCAGTC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYSF_chr2_71448561_71691763	71618153	T T	TGTGTGTG others(227): Show TGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGG GGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTG TGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTA TAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0169 a0001c0014t0001g0169	1	192	0.0052	234	c.441 others(253): Show c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG TGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618153	T T	TGTGTGTG others(227): Show TGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGG GGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTG TGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTA TAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0175 a0001c0014t0002g0175	1	208	0.0048	234	c.446 others(253): Show c.4465-2381_4465-2380insGTAGAGGTGGGGTATAAGTGTGTGTG GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG TGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELP1_chr9_108862517_108939124	108900826	A A	ACACACAC others(227): Show ACACACACATACACGCCACACACACATACACGCCACACACATACACGCCA CACACACATACACGCCACACACACATACACGCCACACACACATACACGCC ACACACACATACACGCCACACACACATACACGCCACACACACATACACGC CACACACACATACACGCCACACACACATACACGCCACACACACATACACG CCACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	1	416	0.0024	234	c.201 others(251): Show c.2015-452_2015-451insGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGT GTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATG TGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTAT GTGTGTGTGGCGTGTATGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATG TGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ESYT2_chr7_158725997_158834509	158730534	T T	TGAAATGC others(227): Show TGAAATGCCGAGAATCAAGGAGAAAGGAAGTGCCCGGTGTGAAATGCCGA GAATCAAGGAGAAAGGAAGTGCCCGGTGCGAAATGCCCACAGTCAAGGAG AAAGGAAGTGCCCGGTGTCAAAGGCCCACAGTCAAGGAGAAAGGAAGTGC CCGGTGTGAAATGCCGAGAATCAAGGAGAAAGGAAGTGCCCGGTGTGAAA TGCCGAGAATCAAGGAGAAAGGAAGTGCCCGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03486.hp2 NA19030.hp2 others(1): Show HG02886.hp2 HG03486.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0033 a0001c0008t0034 a0001c0008t0016 a0001c0008t0033 a0001c0008t0034	a0001c0008t0016g0223 a0001c0008t0016g0226 a0001c0008t0033g0224 others(1): Show a0001c0008t0016g0223 a0001c0008t0016g0226 a0001c0008t0033g0224 a0001c0008t0034g0225	4	370	0.0108	234	c.36 others(245): Show c.3672_*3673insGCACCGGGCACTTCCTTTCTCCTTGATTCTCGGC ATTTCACACCGGGCACTTCCTTTCTCCTTGATTCTCGGCATTTCACACCG GGCACTTCCTTTCTCCTTGACTGTGGGCCTTTGACACCGGGCACTTCCTT TCTCCTTGACTGTGGGCATTTCGCACCGGGCACTTCCTTTCTCCTTGATT CTCGGCATTTCACACCGGGCACTTCCTTTCTCCTTGATTCTCGGCATTTC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		462		chr7	TogoVar
EXOC2_chr6_480154_698139	602014	A A	ACATTCTC others(227): Show ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG02965.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0107 a0001c0001t0009g0112 a0001c0001t0009g0107 a0001c0001t0009g0112	2	272	0.0074	234	c.743 others(251): Show c.743-2790_743-2789insGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCA CACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGT TCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTG AGAATG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FAM174B_chr15_92612448_92660775	92631149	T T	TATATATT others(227): Show TATATATTATATATTACGTATTACATATTACATATTATATATTATATATT ACGTATTACATATTACATATTATATATTATATATTACGTATTACATATTA CATATTATATTATATATTACGTATTACATATTACATATTATATTATATAT TACGTATTACATATTACATATTATATTATATATTACGTATTACATATTAC ATATTATATATTATATATTACGTATTACATATTAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02109.hp2 HG02559.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0009c0007t0001 a0001c0001t0001 a0009c0007t0001	a0001c0001t0001g0104 a0009c0007t0001g0008 a0001c0001t0001g0104 a0009c0007t0001g0008	2	394	0.0051	234	c.345 others(249): Show c.345-805_345-804insGTAATATGTAATACGTAATATATAATATAT AATATGTAATATGTAATACGTAATATATAATATAATATGTAATATGTAAT ACGTAATATATAATATAATATGTAATATGTAATACGTAATATATAATATA ATATGTAATATGTAATACGTAATATATAATATATAATATGTAATATGTAA TACGTAATATATAATATATAATATGTAATATGTAATACGTAATATATAAT ATAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FBH1_chr10_5885243_5942593	5916535	A A	AAACAGGG others(227): Show AAACAGGGGAAGTGTTAGGGATCTGAGGATGGGGGAACAGGGGAAGTGTT AGGGATCTGAGGATGGGGGAACAGGGGAAGTGTTAGGGATCTGAGGATGG GGAAACAGGGGAAGTGTTAGGGGTCTGAGGATGGGGAAACGGGAAATGTT AGGGATCTGAGGATGGGGAAATGGGAAGTGTTAGGGATCTGAGGATGGGG GATCAGGGGAAGTGTTAGGGATCTGAGGATGGGGG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19060.hp1 NA19067.hp1 NA18989.hp2 NA19060.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	3	344	0.0087	234	c.178 others(249): Show c.1788+98_1788+99insATCTGAGGATGGGGGAACAGGGGAAGTGTT AGGGATCTGAGGATGGGGGAACAGGGGAAGTGTTAGGGATCTGAGGATGG GGAAACAGGGGAAGTGTTAGGGGTCTGAGGATGGGGAAACGGGAAATGTT AGGGATCTGAGGATGGGGAAATGGGAAGTGTTAGGGATCTGAGGATGGGG GATCAGGGGAAGTGTTAGGGATCTGAGGATGGGGGAACAGGGGAAGTGTT AGGG	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
FLT3_chr13_27998274_28105576	27998851	C C	CATATAAA others(227): Show CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATGCATA TAAATATATATATTTATATGCATATAAATATATATATTTATATACATATA AATATATATATTTATATGCATATAAATATATATATTTATATGCATATAAA TATATATATTTATATACATATAAATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	292	0.0034	234	c.52 others(245): Show c.5200_*5201insAAATATATATATTTATATGTATATAAATATATAT ATTTATATGCATATAAATATATATATTTATATGCATATAAATATATATAT TTATATGTATATAAATATATATATTTATATGCATATAAATATATATATTT ATATGCATATAAATATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4422		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(227): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02738.hp2 HG02630.hp2 HG02738.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0038 a0001c0001 a0021c0038	a0001c0001t0002 a0021c0038t0001 a0001c0001t0002 a0021c0038t0001	a0001c0001t0002g0173 a0021c0038t0001g0239 a0001c0001t0002g0173 a0021c0038t0001g0239	2	292	0.0069	234	c.51 others(245): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATAT AAATATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGG others(227): Show CGGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGG TGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGG GGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGG GCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	234	c.-20 others(243): Show c.-204_-203insGGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGG GGACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGC GCGGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGG GGAGGGGATGGGGGCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGAG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019227	C C	CGGGGGGA others(227): Show CGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGTGGGGGGG GAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGGAGGGGG AGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGGGATG GGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGGCGGGGGG GAGGGGATGGGCGGGGGGGGAGGGGGAGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	364	0.0028	234	c.-19 others(243): Show c.-197_-196insGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGG TAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGG GGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGG GGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGA TGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGGAGGGGGGCG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		117		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241805301	G G	GCCCAGGA others(227): Show GCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	314	0.0032	234	c.11 others(245): Show c.1135_*1136insCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1015		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806154	A A	ACCTTCCC others(227): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	314	0.0032	234	c.19 others(245): Show c.1988_*1989insCCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1868		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807607	T T	TCCCTCCC others(227): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAG CCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	314	0.0032	234	c.34 others(245): Show c.3441_*3442insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3321		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCACCACC others(227): Show CCACCACCACCATCACCATCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0149 a0001c0002t0004g0149	1	366	0.0027	234	c.666 others(251): Show c.666+1795_666+1796insTCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCA CCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GCNT2_chr6_10516351_10634368	10606603	C C	CTTCCATT others(227): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAA TGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTT AATGGAAATTTCCATTAAAGAAATTTAATGGAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02738.hp1 HG02647.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0253 a0001c0001t0004g0020 a0001c0001t0004g0253	2	324	0.0062	234	c.926 others(253): Show c.926-14676_926-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATT TAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAA TTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGA AATTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10606603	C C	CTTCCATT others(227): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAA TGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTT AATGGAAATTTCCATTAAAGAAATTTAATGGAAAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	344	0.0029	234	c.920 others(253): Show c.920-14676_920-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATT TAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAA TTTAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGA AATTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GLIS1_chr1_53501239_53744164	53713134	A A	AGGCAACA others(227): Show AGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGG TGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCAT CTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGAC CAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCA ACATGGTGAGACCTCATCTCTTCAAGACCAGCCTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp1 HG02148.hp1 others(29): Show HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02523.hp2 NA18945.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19064.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0025 a0030	a0001c0001 a0001c0005 a0002c0002 others(8): Show a0001c0001 a0001c0005 a0002c0002 a0002c0006 a0002c0018 a0003c0003 a0003c0010 a0005c0009 a0005c0013 a0025c0034 a0030c0023	a0001c0001t0002 a0001c0005t0001 a0001c0005t0004 others(13): Show a0001c0001t0002 a0001c0005t0001 a0001c0005t0004 a0002c0002t0001 a0002c0006t0001 a0002c0018t0001 a0002c0018t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0016 a0003c0010t0002 a0005c0009t0006 a0005c0009t0007 a0005c0013t0006 a0025c0034t0002 a0030c0023t0002	a0001c0001t0002g0077 a0001c0001t0002g0123 a0001c0001t0002g0129 others(29): Show a0001c0001t0002g0077 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0144 a0001c0001t0002g0170 a0001c0001t0002g0217 a0001c0005t0001g0164 a0001c0005t0001g0167 a0001c0005t0001g0216 a0001c0005t0001g0218 a0001c0005t0001g0223 a0001c0005t0004g0166 a0002c0002t0001g0066 a0002c0002t0001g0115 a0002c0002t0001g0169 a0002c0006t0001g0165 a0002c0018t0001g0145 a0002c0018t0002g0143 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0002g0198 a0003c0003t0002g0225 a0003c0003t0002g0226 a0003c0003t0002g0228 a0003c0003t0016g0227 a0003c0010t0002g0235 a0005c0009t0006g0026 a0005c0009t0007g0025 a0005c0013t0006g0011 a0005c0013t0006g0024 a0025c0034t0002g0168 a0030c0023t0002g0090	32	236	0.1356	234	c.259 others(253): Show c.259+24671_259+24672insCAGGCTGGTCTTGAAGAGATGAGGTC TCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGT CTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGAT GAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACC ATGTTGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53713134	A A	AGGCAACA others(227): Show AGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGG TGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCAT CTCTTCAAGACCAGCCTGGGCAACATGGTGAGACTTCATCTCTTCAAGAC CAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCA ACATGGTGAGACCTCATCTCTTCAAGACCAGCCTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0038 a0001c0001 a0021c0038	a0001c0001t0002 a0021c0038t0004 a0001c0001t0002 a0021c0038t0004	a0001c0001t0002g0096 a0021c0038t0004g0095 a0001c0001t0002g0096 a0021c0038t0004g0095	2	236	0.0085	234	c.259 others(253): Show c.259+24671_259+24672insCAGGCTGGTCTTGAAGAGATGAGGTC TCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTTGAAGAGATGAAGTCTCACCATGTTGCCCAGGCTGGT CTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGAT GAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACC ATGTTGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53713407	G G	GGGCAACA others(227): Show GGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGG TGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCAT CTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGAC CAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCA ACATGGTGAGACCTCATCTCTTCAAGACCAGCCTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0137 a0002c0002t0002g0137	1	236	0.0042	234	c.259 others(253): Show c.259+24398_259+24399insTAGGCTGGTCTTGAAGAGATGAGGTC TCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGT CTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGAT GAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACC ATGTTGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar

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