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
DPEP1_chr16_89608642_89643433	89634674	C C	CCCTTCCT others(196): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03471.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099	3	145	0.0207	203	c.105 others(220): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635098	C C	CCCTTTCC others(196): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	234	0.0043	203	c.105 others(218): Show c.105-810_105-809insCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635153	C C	CCCTTCCT others(196): Show CCCTTCCTTCTCCTTTCCCTTCCTTATCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	196	0.0051	203	c.105 others(218): Show c.105-753_105-752insTTCCTTCTCCTTTCCCTTCCTTATCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUSP8_chr11_1549051_1577271	1550698	A A	AGCCACCC others(196): Show AGCCACCCACCCATCCACCCCACTCATCCTCTACCCAGTCAGCCAGTCTG GCCCACGGTATCCAGCCATCCACCCACCCCACTCTCCACTCGATCCCTGG CATCCAGCTGCCAGCTGCCCAGCCAGCCAGCCATCCATCCACTCGCAGCC TCCGACTCATCCCTGCCAGCCCATGCATCCTTCGGCCCACGTAGCCATCC ATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0112 a0001c0002t0016g0112	1	366	0.0027	203	c.58 others(214): Show c.5819_*5820insGGATGGATGGCTACGTGGGCCGAAGGATGCATGG GCTGGCAGGGATGAGTCGGAGGCTGCGAGTGGATGGATGGCTGGCTGGCT GGGCAGCTGGCAGCTGGATGCCAGGGATCGAGTGGAGAGTGGGGTGGGTG GATGGCTGGATACCGTGGGCCAGACTGGCTGACTGGGTAGAGGATGAGTG GGGTGGATGGGTGGGTGGC	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		3352		chr11	TogoVar
DYM_chr18_49031387_49465645	49440824	A A	AATATATG others(196): Show AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATATGACTATATATTATATATTTATATAATAT ATGACTATATATTATATATTTATATAATATATTTATATAAATACATTATA TTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0107 a0001c0001t0038g0107	1	273	0.0037	203	c.-53 others(222): Show c.-53-10378_-53-10377insAAAATATAATGTATTTATATAAATAT ATTATATAAATATATAATATATAGTCATATATTATATAAATATATAATAT ATAGTCATATATAAATATATAATATATAGTCATATATTATATAAATATAT AATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTAT ATAAATATATAATATATAGTCATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537972	A A	ATAATTTA others(196): Show ATAATTTATATATATAATATATATATATAATTTATATATATAATATATAT ATATAATTTATATATATAATATATATATATAATTTATATATATAATATAT ATATAATTTATATATATAATATATATATAATTTATATATATAATTATATA TATAATTTATATATATAATATATATAATTTATATATATAATTTATATATA TAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0057 a0001c0001t0015g0057	1	309	0.0032	203	c.739 others(218): Show c.739-869_739-868insATTATATATATAAATTATATATATAAATTA TATATATTATATATATAAATTATATATATAATTATATATATAAATTATAT ATATATTATATATATAAATTATATATATATTATATATATAAATTATATAT ATATATTATATATATAAATTATATATATATATTATATATATAAATTATAT ATATATATTATATATATAAATTA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
EIF4G3_chr1_20801479_21181897	21179788	A A	ATATATTA others(196): Show ATATATTATATATAATATATTATATATATTATATATAATATATAATACAT TATATATATTATATAATATATATAATATATTATATATTATATATAATATA TTATATATATAATATAATATATATAATATATATTTAATATATTATATATA ATATATATTATATATTTAATATATTACATATAATATATATTATATATTTA ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02451.hp1 others(1): Show HG01884.hp2 HG02258.hp2 HG02451.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0010 others(1): Show a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0010 a0001c0001t0014g0099	4	134	0.0299	203	c.-35 others(214): Show c.-3523_-3522insATATTAAATATATAATATATATTATATGTAATAT ATTAAATATATAATATATATTATATATAATATATTAAATATATATTATAT ATATTATATTATATATATAATATATTATATATAATATATAATATATTATA TATATTATATAATATATATAATGTATTATATATTATATATAATATATATA ATATATTATATATAATATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2892		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179788	A A	ATATATTA others(196): Show ATATATTATATATAATATATTATATATATTATATATAATATATAATACAT TATATATATTATATAATATATATAATATATTATATATTATATATAATATA TTATATATATTATATAATATATATAATATATATTTAATATATTATATATA ATATATATTATATATTTAATATATTACATATAATATATATTATATATTTA ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	131	0.0076	203	c.-35 others(214): Show c.-3523_-3522insATATTAAATATATAATATATATTATATGTAATAT ATTAAATATATAATATATATTATATATAATATATTAAATATATATTATAT ATATTATATAATATATATAATATATTATATATAATATATAATATATTATA TATATTATATAATATATATAATGTATTATATATTATATATAATATATATA ATATATTATATATAATATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2892		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179788	A A	ATATATTA others(196): Show ATATATTATATATAATATATTATATATATTATATATTATATATAATACAT TATATATATTATATAATATATATAATATATTATATATTATATATAATATA TTATATATATAATATAATATATATAATATATATTTAATATATTATATATA ATATATATTATATATTTAATATATTACATATAATATATATAATATATTTA ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	131	0.0076	203	c.-35 others(214): Show c.-3523_-3522insATATTAAATATATTATATATATTATATGTAATAT ATTAAATATATAATATATATTATATATAATATATTAAATATATATTATAT ATATTATATTATATATATAATATATTATATATAATATATAATATATTATA TATATTATATAATATATATAATGTATTATATATAATATATAATATATATA ATATATTATATATAATATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2892		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(196): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATATATTATGTATAATATATATAATATAT TATACATAATATATAATATATATTACGTAATATATTACATATATTATATA TAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	138	0.0072	203	c.-37 others(214): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACGTAATA TATATTATATATTATGTATAATATATTATATATATTATACATAATATATA TATTATATATTATATATTATGTATAATATATAATATATAATATATTATAT ATTACATATAATATATTATATGTAATATATAACATATATTACATAATATA TGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3315172	C C	CCACCATC others(196): Show CCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCC ACAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02145.hp2 others(11): Show HG01884.hp1 HG01884.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03195.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 others(11): Show a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0003g0234 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0181	14	157	0.0892	203	c.259 others(222): Show c.259+22844_259+22845insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG GTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGCTGTGGATGGGGATGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315172	C C	CCACCATC others(196): Show CCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	144	0.0069	203	c.259 others(222): Show c.259+22844_259+22845insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG GTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGCTGTGGATGGGGATGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(196): Show CCCGGCCCCGCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGC CCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCC GCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCC CCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCC CGCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	176	0.0057	203	c.304 others(220): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGG CGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGG AGGGGCCGGGGCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAGGGGC CGGGGCGGGGCGGGGGCGGGGCCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(196): Show CCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGC CCCTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCC GCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCC CCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCC CGCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0260 a0001c0001t0002g0261	2	177	0.0113	203	c.304 others(220): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGG CGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGGGG AGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGC CGGGGCGGGGCGGGGGAGGGGCCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(196): Show CCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGC CCCTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCC CCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCC CCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCC CGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	176	0.0057	203	c.304 others(220): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGG CGGCGGAGGGGCCGGGGCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGGGG AGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGC CGGGGCGGGGCGGCGGAGGGGCCGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FER1L5_chr2_96637764_96709883	96659509	C C	CTTTCTTT others(196): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTGTCTTTCTTTCTTTCTTTCTC TTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTT TCTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0167 a0002c0001t0001g0167	1	98	0.0102	203	c.748 others(218): Show c.748-832_748-831insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGT CTTTCTTTCTTTCTTTCTCTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTTCTTTCTTTCTTTC TTTTCTTTCTTTCTTTCTTTCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52			chr2	TogoVar
FOXQ1_chr6_1307098_1319758	1317079	C C	CCCCTCCC others(196): Show CCCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCC CGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCC CCTCCAGCCTACCCCTCCCCCCACCCATTCCCTCCTCCAGCCTACCCCTC CCCCCACCCATCCCTCCTCCCTCCCCCCTCCAGCCTACCCCTCCCCCCAC CCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA18747.hp2 NA19079.hp1 HG02056.hp1 NA18747.hp2 NA19079.hp1	a0004 a0004	a0004c0003 a0004c0013 a0004c0003 a0004c0013	a0004c0003t0001 a0004c0013t0001 a0004c0003t0001 a0004c0013t0001	a0004c0003t0001g0000 a0004c0013t0001g0000 a0004c0003t0001g0000 a0004c0013t0001g0000	3	336	0.0089	203	c.31 others(214): Show c.3163_*3164insCCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCC CGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACC CCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCATTCCCTCC TCCAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCTCCCCCCTCCAGCC TACCCCTCCCCCCACCCAT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2322		chr6	TogoVar
FTCD_chr21_46131779_46160579	46145735	T T	TGCCCTCC others(196): Show TGCCCTCCCAACAGCGCCCTTCCCCTCCCCGCCCTCCCCCCAACAGCGCC CTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCA ACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCC TCCCCCCAACAGCGCCCTCCCCCCAACAACTGTGCCCTCCCCTTCCCCCT CCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0178 a0001c0010t0001g0178	1	208	0.0048	203	c.109 others(218): Show c.1098+82_1098+83insGGGGAGGGGGAAGGGGAGGGCACAGTTGTT GGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCG CAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAG GGGAAGGGCGCTGTTGGGAGGGC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
FUNDC2_chrX_155021844_155065304	155028040	C C	CAGAGCAG others(196): Show CAGAGCAGACTGCTCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAG ACTTTTATAAGAGCAGACTGCTCTTATAGACTTTTATAAGAGCAGACTGC TCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAGACTTTTATAAGAG CAGACTGCTCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAGACTTT TATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0046 a0001c0001t0045g0046	1	163	0.0061	203	c.133 others(220): Show c.133+1047_133+1048insACTTTTATAAGAGCAGACTGCTCTTATA GACTTTTATAAGAGCAGACTGCTCTTATAGACTTTTATAAGAGCAGACTG CTCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAGACTTTTATAAGA GCAGACTGCTCTTATAGACTTTTATAAGAGCAGACTGCTCTTATAGACTT TTATAAGAGCAGACTGCTCTTATAG	FUNDC2	ENSG00000165775.18	transcript	ENST00000369498.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
FUT10_chr8_33365824_33478146	33462169	G G	GAGGGGAG others(196): Show GAGGGGAGAGGAGGGGACAGTGGGGAGGGGAGTGGAGGGGAGGGGGGAAG TGAGGGAAGGGGGGGAGAGAGGAGGGGAGGGAGTGGAGGGCAGGGGAGGC AGAGAGAGGAGGGAAGGGAGTGGAGGGCAGGGGAGGCAGAGAGAGGAGGG AAGGGAGTGGAGGGCAGGGGAGGGGGAGAGAGGAGGGGAGGGGAGGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02257.hp2 others(11): Show HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03516.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0003c0006 a0003c0008 a0003c0015 a0009c0018	a0001c0001t0001 a0001c0004t0001 a0001c0004t0007 others(6): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0007 a0001c0005t0004 a0002c0002t0001 a0003c0006t0008 a0003c0008t0005 a0003c0015t0001 a0009c0018t0007	a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0004t0001g0047 others(11): Show a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0004t0001g0047 a0001c0004t0007g0044 a0001c0005t0004g0042 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0048 a0003c0006t0008g0038 a0003c0006t0008g0046 a0003c0008t0005g0041 a0003c0015t0001g0040 a0009c0018t0007g0049	14	143	0.0979	203	c.-27 others(220): Show c.-273-445_-273-444insTCCCTTCCCCTCCCCTCCCCTCCTCTCT CCCCCTCCCCTGCCCTCCACTCCCTTCCCTCCTCTCTCTGCCTCCCCTGC CCTCCACTCCCTTCCCTCCTCTCTCTGCCTCCCCTGCCCTCCACTCCCTC CCCTCCTCTCTCCCCCCCTTCCCTCACTTCCCCCCTCCCCTCCACTCCCC TCCCCACTGTCCCCTCCTCTCCCCT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	1/4			chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805556	A A	ACCCTCCC others(196): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCAACCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	175	0.0057	203	c.13 others(214): Show c.1390_*1391insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCC CTCCCTCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1270		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806532	A A	ACCCTCCC others(196): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTC TTAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	205	0.0049	203	c.23 others(214): Show c.2366_*2367insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2246		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806758	A A	ACCCTCCC others(196): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	192	0.0052	203	c.25 others(214): Show c.2592_*2593insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2472		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71679943	T T	TCCTCCTC others(196): Show TCCTCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTTCTCCCTCCT TCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTGTCTCCCTT CCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC GCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTT CCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	67	0.0149	203	c.150 others(222): Show c.1500+2642_1500+2643insTCCCTCTCTCCCTTCCTCCCTCCCGC TCTCTCTTTCTCCCTCCTTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTGTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCGCTCTCTCTTCCTCCCTCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALR1_chr18_77244848_77282900	77259166	G G	GTCATGGT others(196): Show GTCATGGTGGTGATGATGGTGATCATGGTGGTGATGGTGGTGATGGTGGT GGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCATGGTG GTGATGACGGTGGTGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGT GGTGGATGGTGGTGGTGGTCACAGTGGTGGTGATGTTGGTGTTGGTGGTG GTCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0291 a0001c0001t0041g0291	1	306	0.0033	203	c.732 others(220): Show c.732+2944_732+2945insCATGGTGGTGATGATGGTGATCATGGTG GTGATGGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGG TGTTGGTGGTGGTCATGGTGGTGATGACGGTGGTGATGATGGTGGTCATG GTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGG TGATGTTGGTGTTGGTGGTGGTCAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GMEB2_chr20_63582605_63632101	63607235	C C	CCCACATC others(196): Show CCCACATCCATTTCTAGAAACATGCCCCTCTGACCCACACCTCCATTTCT AGAAACATGCCCCTGACCTCACCTCCATTTCTAGAAACATGCCCCTCTGA CCTCACCTCCATTTCTAGAAACATGCCCCTGTGACCCCACATCCATTTCT AGAAACATGCCCCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGA CCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03041.hp2 HG01255.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0033 a0001c0007t0007g0036 a0001c0007t0007g0033 a0001c0007t0007g0036	2	328	0.0061	203	c.132 others(220): Show c.132-2396_132-2395insTGGGTCAGAGGGGCATGTTTCTAGAAAT GGATGTGGGGTCAGGGGCATGTTTCTAGAAATGGATGTGGGGTCACAGGG GCATGTTTCTAGAAATGGAGGTGAGGTCAGAGGGGCATGTTTCTAGAAAT GGAGGTGAGGTCAGGGGCATGTTTCTAGAAATGGAGGTGTGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609349	A A	ACATCCAT others(196): Show ACATCCATTTCTAGAAACATGCCCCTGACCCCACACATCCATTTCTAGAA ACATGTCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCC ACACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCCATTTCTAG AAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATGTCCCTCTG ACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(28): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01981.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG03017.hp2 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18960.hp2 NA18962.hp1 NA18970.hp2 NA18990.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19012.hp1 NA19075.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0024 a0001c0003t0002g0111 a0001c0003t0002g0122 others(27): Show a0001c0003t0002g0024 a0001c0003t0002g0111 a0001c0003t0002g0122 a0001c0003t0002g0127 a0001c0003t0002g0129 a0001c0003t0002g0131 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0166 a0001c0003t0002g0167 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0173 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0181 a0001c0003t0002g0190 a0001c0003t0002g0260 a0001c0003t0002g0264	31	315	0.0984	203	c.132 others(220): Show c.132-4510_132-4509insGGGTCAGAGGGACATGTTTCTAGAAATG GATGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGGTCAGAG GGACATGTTTCTAGAAATGGATGTGTGGGTCAGAGGGGCATGTTTCTGGA AATGGAGGTGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGGTC AGGGGCATGTTTCTAGAAATGGATG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAQ_chr9_77711097_78036811	77894367	T T	TATATATT others(196): Show TATATATTTAATAGAAAATATATAATATATATTTAATAGAAAATATATAT AATATATATATTTAATAGAAAAAATATATAATATATATATTTAATAGAAA AATATATATATTATATATAATTTAATATTAAATATATATATAATATATAT ATTTAATATTAAAATATATATAATATATATATTTAATAGAAAAAATATAT TTTA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0015 a0001c0001t0022g0015	1	277	0.0036	203	c.321 others(222): Show c.321+27793_321+27794insTAAAATATATTTTTTCTATTAAATAT ATATATTATATATATTTTAATATTAAATATATATATTATATATATATTTA ATATTAAATTATATATAATATATATATTTTTCTATTAAATATATATATTA TATATTTTTTCTATTAAATATATATATTATATATATTTTCTATTAAATAT ATATTATATATTTTCTATTAAATATAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(196): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	166	0.0060	203	c.109 others(224): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(196): Show TTATATATAATAATATAAATAATATATAATATATATTATATATAATAATA TAAATAATATATAATATATATTATATATAATAATATAAATAATATATAAT ATATATTATATATAATAATATAAATAATATATAATATATATTATATATAA TAATATAAATAATATATAATATATATTATATATAATAATATAAATAATAT ATAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	192	0.0052	203	c.966 others(220): Show c.966+2363_966+2364insAATAATATAAATAATATATAATATATAT TATATATAATAATATAAATAATATATAATATATATTATATATAATAATAT AAATAATATATAATATATATTATATATAATAATATAAATAATATATAATA TATATTATATATAATAATATAAATAATATATAATATATATTATATATAAT AATATAAATAATATATAATATATAT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRIN3A_chr9_101564352_101743647	101659533	G G	GTATCTAT others(196): Show GTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTATA CATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATCTATGTATT TATTTATACATAGAAAGTATCTATGTATTTATTTATACATAGAAAGTATC TATGTATTTATTTATACATAGAAAGTATCTATGTATTTATTTATACATAG AAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02630.hp1 others(7): Show HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0038 a0002c0005 a0005c0038	a0002c0005t0006 a0002c0005t0029 a0005c0038t0002 a0002c0005t0006 a0002c0005t0029 a0005c0038t0002	a0002c0005t0006g0034 a0002c0005t0006g0035 a0002c0005t0006g0036 others(7): Show a0002c0005t0006g0034 a0002c0005t0006g0035 a0002c0005t0006g0036 a0002c0005t0006g0037 a0002c0005t0006g0038 a0002c0005t0006g0039 a0002c0005t0006g0041 a0002c0005t0006g0042 a0002c0005t0029g0138 a0005c0038t0002g0040	10	322	0.0311	203	c.235 others(224): Show c.2352+10526_2352+10527insTTTTCTATGTATAAATAAATACAT AGATACTTTCTATGTATAAATAAATACATAGATACTTTCTATGTATAAAT AAATACATAGATACTTTCTATGTATAAATAAATACATAGATACTTTCTAT GTATAAATAAATACATAGATACTTTCTATGTATAAATAAATACATAGATA CTTTCTATGTATAAATAAATACATAGATA	GRIN3A	ENSG00000198785.7	transcript	ENST00000361820.6	protein_coding	3/8			chr9	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(196): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCC TCCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	207	0.0048	203	c.427 others(220): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(196): Show CTCCCCCCTCCTCCTCCCCCCTCCCCCCCCCTCCTCCCCCCCCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCC TCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0053 a0009c0013t0053	a0009c0013t0053g0183 a0009c0013t0053g0183	1	207	0.0048	203	c.427 others(220): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCCCCCCC CCTCCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCCCCCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169751	A A	AATATATT others(196): Show AATATATTGTATATTATATAATATATTGTATATTATATATTATATAATAT ATTGTATATTATATATTATATAATATATAATATACAATATATTATATAAT ATATAATATACAATATATTATATATTATATAATATATTGTATATTATATA TTATATAATATATTGTATATTATATATTGTATATTATATAATATATTGTA TATT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	279	0.0036	203	c.-34 others(218): Show c.-34-700_-34-699insATATATTGTATATTATATATTATATAATAT ATTGTATATTATATATTATATAATATATAATATACAATATATTATATAAT ATATAATATACAATATATTATATATTATATAATATATTGTATATTATATA TTATATAATATATTGTATATTATATATTGTATATTATATAATATATTGTA TATTATATATTGTATATTATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIGD1C_chr12_50947544_50975607	50948916	G G	GGGGAGGG others(196): Show GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	373	0.0027	203	c.-38 others(214): Show c.-3863_-3862insGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3627		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948916	G G	GGGGAGGG others(196): Show GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	373	0.0027	203	c.-38 others(214): Show c.-3863_-3862insGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3627		chr12	TogoVar
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCA others(196): Show TTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18953.hp2 NA18994.hp1 HG01106.hp2 NA18953.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0221 a0001c0002t0001g0067 a0001c0002t0001g0117 a0001c0001t0001g0221 a0001c0002t0001g0067 a0001c0002t0001g0117	3	302	0.0099	203	c.485 others(220): Show c.485+4072_485+4073insATTCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATT CCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B14_chr19_48808018_48841491	48824223	C C	CCAGCCTG others(196): Show CCAGCCTGGGCAACAGAGCGAGATTCCATCAAATAAATAAATAAATAAAT AAATAAATAAATAAATAAATAAATGTTAAACATTGAACCACAAGTAAAAG TCAAGAAAAAAAGAAAGAAAGCCAGGTATGGTGGCTCACGCCTGTCATCC TAACACTTTAGGAGGCCAAGGCAGGAAGACAGTTTGAACTCAGGAGTTCA AGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(102): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19057.hp1 NA19064.hp2 NA19068.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0035 others(101): Show a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0002c0002t0001g0290 a0002c0002t0001g0293 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0317 a0002c0002t0001g0330 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0343 a0002c0002t0001g0345 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0365 a0002c0002t0001g0369 a0002c0002t0001g0371 a0002c0002t0001g0372 a0002c0002t0002g0017 a0002c0002t0002g0022 a0003c0006t0001g0107 a0003c0006t0001g0118	105	216	0.4861	203	c.369 others(220): Show c.369+7444_369+7445insTTCTTGAACTCCTGAGTTCAAACTGTCT TCCTGCCTTGGCCTCCTAAAGTGTTAGGATGACAGGCGTGAGCCACCATA CCTGGCTTTCTTTCTTTTTTTCTTGACTTTTACTTGTGGTTCAATGTTTA ACATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGATG GAATCTCGCTCTGTTGCCCAGGCTG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48824223	C C	CCAGCCTG others(196): Show CCAGCCTGGGCAACAGAGCGAGATTCCATCAAATAAATAAATAAATAAAT AAATAAATAAATAAATAAATAAATGTTAAACATTGAACCACAAGTAAAAG TCAAGAAAAAAAGAAAGAAGGCCAGGTATGGTGGCTCACGCCTGTCATCC TAACACTTTAGGAGGCCAAGGCAGGAAGACAGTTTGAACTCAGGAGTTCA AGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp2 others(96): Show HG00099.hp1 HG00140.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18948.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19079.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(89): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0270 a0001c0001t0001g0288 a0001c0001t0001g0381 a0001c0004t0001g0147 a0001c0004t0001g0174 a0001c0004t0001g0175 a0002c0002t0001g0009 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0315 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0323 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0329 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0336 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0364 a0002c0002t0001g0370 a0002c0002t0001g0375 a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0001g0358 a0002c0003t0001g0359 a0002c0003t0001g0360 a0002c0003t0001g0361 a0002c0003t0001g0362	99	210	0.4714	203	c.369 others(220): Show c.369+7444_369+7445insTTCTTGAACTCCTGAGTTCAAACTGTCT TCCTGCCTTGGCCTCCTAAAGTGTTAGGATGACAGGCGTGAGCCACCATA CCTGGCCTTCTTTCTTTTTTTCTTGACTTTTACTTGTGGTTCAATGTTTA ACATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGATG GAATCTCGCTCTGTTGCCCAGGCTG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
IL3RA_chrX_1331785_1387689	1361055	C C	CCCTGCCC others(196): Show CCCTGCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCC CTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTGTCT CTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCT CTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	113	0.0088	203	c.759 others(220): Show c.759+2171_759+2172insGCCCTCTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCT CTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTGTCTCTCTCTCTCCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB2_chr21_44880953_44925899	44918939	G G	ATCCCCTC others(196): Show ATCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGG AGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCA GCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCC CTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTG AGCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0243 a0001c0006t0001g0243	1	193	0.0052	203	c.-4+ others(218): Show c.-4+1882_-4+1883insGCTCAGCTCCGAGTGCTGGGAGAGGGGACG CTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAG AGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAGT GCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAG CTCCGAGTGCTGGGAGAGGGGAT	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	C C	CCTTTTCT others(196): Show CCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	158	0.0063	203	c.-79 others(212): Show c.-798_-797insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132160680	G G	GAGGGGGC others(196): Show GAGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGC TGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGATG CTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGAT GCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGA TGCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0035 a0001c0032t0035	a0001c0032t0035g0125 a0001c0032t0035g0125	1	113	0.0088	203	c.222 others(222): Show c.2221-2529_2221-2528insAGGGGGCCTCTCCCTGTGTGATGCTG GGGAGCCTCTTCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCT GGGGGACCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGC TGGGGGACCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATG CTGGGGGACCTCTCCCTGTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
KATNIP_chr16_27545144_27785344	27713827	T T	TGTGTATA others(196): Show TGTGTATATATATACACATACATATTATATATATGTGTGTGTATATATAT ACACACACATATTATATATATGTGTGTGTATATATATACACATACATATT ATATATATGTGTGTGTATATATATACACATACATATTATATATATGTGTG TGTATATGTATATATACACATATTATATATGTGTGTGTGTGTGTGTGTAT ATAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0104 a0002c0002t0003g0104	1	142	0.0070	203	c.160 others(222): Show c.1605+4907_1605+4908insGTGTATATATATACACATACATATTA TATATATGTGTGTGTATATATATACACACACATATTATATATATGTGTGT GTATATATATACACATACATATTATATATATGTGTGTGTATATATATACA CATACATATTATATATATGTGTGTGTATATGTATATATACACATATTATA TATGTGTGTGTGTGTGTGTGTATATAC	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27			chr16	TogoVar
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(196): Show CCACCATCACCATCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTATCACCACCACCATCACCATCACCACCATCACCACCACCACCA CCAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18983.hp1 NA18980.hp2 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0282 a0001c0003t0003g0304 a0001c0003t0003g0282 a0001c0003t0003g0304	2	202	0.0099	203	c.691 others(218): Show c.691-888_691-887insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGATGGTGATGGT GATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGTGAT GGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGG TGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131538	A A	AGGGGCAG others(196): Show AGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCG GGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAG GGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGAG GAGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0033 a0020c0031t0033	a0020c0031t0033g0056 a0020c0031t0033g0056	1	237	0.0042	203	c.178 others(218): Show c.1785+95_1785+96insAGGGGGGCAGGGAGGAGGGGGGCAGGTGGG GTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGG GGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCA GGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGG GCACAGGGGAGCTGGTGGCGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(196): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTG GGGC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0190 a0002c0003t0004g0190	1	237	0.0042	203	c.178 others(220): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCGGGGAGGAGGGGGCAGGTGGGGCACA GGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHDRBS3_chr8_135452456_135652610	135535225	A A	AATAAACT others(196): Show AATAAACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTT AAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTAT ATATAGTTAAACTATATATAAACTATTATATATAGTTAAACTATATATAA ACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTTAAACT ATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG04184.hp1 NA19086.hp2 HG01975.hp1 HG04184.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0145	3	61	0.0492	203	c.208 others(220): Show c.208-7408_208-7206dupAAACTATATATAAACTATTATATATAGT TAAACTATATATAAACTATTATATATAGTTAAACTATATATAAACTATTA TATATAGTTAAACTATATATAAACTATTATATATAGTTAAACTATATATA AACTATTATATATAGTTAAACTATATATAAACTATTATATATAGTTAAAC TATATATAAACTATTATATATAGTT	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KIAA0930_chr22_45187244_45245894	45228745	C C	CCACCAAA others(196): Show CCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAAC ACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAACCACTCACCTG AGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCT TCACCCCCCTACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCG CCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	2	388	0.0052	203	c.64+ others(220): Show c.64+11894_64+11895insATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTAGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGT GATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGTGGTTGGGG GGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAG GGATCTCTCAGGTGAGTGTTTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240786778	A A	ACCCCTGA others(196): Show ACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGG GTGGGGGCTGCCATCAGGAACCCTGAGTGAGAGGGTGGGGGCTGCCTGCT GGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAG GGTGGGGGCCAGTATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGC TGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0216 a0002c0002t0006g0216	1	323	0.0031	203	c.430 others(218): Show c.430-266_430-265insCCCAGCAGGCAGCCCCCACCCTCTCACTCA GGGGTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGG CCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCTCTCACTC AGGGTTCCTGATGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTG GCCCCTACCCTCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar

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