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
ATP6V1E1_chr22_17587136_17633749	17631690	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG04228.hp2 HG02572.hp2 HG02647.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0035 a0001c0001t0001g0169 a0001c0001t0001g0170	3	366	0.0082	-28	c.-30 others(39): Show c.-3083_-3056delAAAAAAAAAAAATATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2942		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631692	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	340	0.0029	-28	c.-30 others(39): Show c.-3085_-3058delAAAAAAAAAAAAAATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2944		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	CATATATA others(21): Show CATATATATATATATATATATATGTGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01891.hp2 others(6): Show HG01106.hp1 HG01109.hp1 HG01891.hp2 HG03209.hp1 HG04199.hp1 NA18747.hp2 NA18944.hp2 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0002g0024 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0002g0024 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0090 a0001c0001t0003g0143 a0001c0001t0005g0037 a0001c0001t0005g0167	9	286	0.0315	-28	c.-46 others(39): Show c.-4636_-4609delATACACATATATATATATATATATATAT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3875		chr2	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128871162	AGCCAGCC others(21): Show AGCCAGCCATGCACCTGTCAGGTGTGCCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02129.hp2 HG03239.hp2 others(11): Show HG02056.hp1 HG02129.hp2 HG03239.hp2 HG04184.hp1 HG04199.hp2 NA18940.hp2 NA18946.hp1 NA18954.hp1 NA18971.hp2 NA18978.hp1 NA19062.hp1 NA19065.hp1 NA19077.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0014 a0001c0001t0005g0009 a0001c0001t0005g0014	14	440	0.0318	-28	c.23 others(39): Show c.2392_*2419delGCCATGCACCTGTCAGGTGTGCCTGCCA	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	2/2	2392	INFO_REALIGN_3_PRIME	chr7	TogoVar
ATP6V1G1_chr9_114582769_114603879	114588852	TATGATTT others(21): Show TATGATTTCCCTACCGCCTTTGTAGTCAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02809.hp2 others(1): Show HG01891.hp2 HG02451.hp2 HG02809.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0076 a0001c0001t0002g0086 a0001c0001t0002g0034 a0001c0001t0002g0076 a0001c0001t0002g0086	4	418	0.0096	-28	c.82+ others(41): Show c.82+934_82+961delTGATTTCCCTACCGCCTTTGTAGTCAGA	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATP6V1H_chr8_53710543_53848245	53755720	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG03471.hp2 others(1): Show HG02109.hp1 HG02896.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0272 a0001c0001t0001g0274 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275	4	268	0.0149	-28	c.127 others(45): Show c.1277+807_1277+834delAAAATATATATATATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP8B3_chr19_1777075_1817276	1795784	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0007 a0010c0029t0007	a0010c0029t0007g0034 a0010c0029t0007g0034	1	39	0.0256	-28	c.205 others(43): Show c.2055+63_2055+90delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	18/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50072962	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG02486.hp2 HG00099.hp2 HG00733.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138	3	239	0.0126	-28	c.87+ others(43): Show c.87+1137_87+1164delTATATATATAGAGAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072968	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	239	0.0042	-28	c.87+ others(43): Show c.87+1131_87+1158delTATATATATATATATAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072972	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	240	0.0042	-28	c.87+ others(43): Show c.87+1127_87+1154delTATATATATATATATATATAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072974	CTCTCTCT others(21): Show CTCTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	235	0.0043	-28	c.87+ others(43): Show c.87+1125_87+1152delTATATATATATATATATATATAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073007	TATATATA others(21): Show TATATATATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19007.hp1 HG02683.hp1 NA19007.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0152 a0003c0003t0002g0027 a0002c0002t0001g0152 a0003c0003t0002g0027	2	251	0.0080	-28	c.87+ others(43): Show c.87+1092_87+1119delGTGTGTGTGTGTGTGTATATATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	135	0.0074	-28	c.166 others(47): Show c.1668+1246_1668+1273delTATATATATATATATATATATATATA AA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79238852	GGACGCAG others(21): Show GGACGCAGTGAAGCGGATGCAGTGACGCA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0002 a0001c0039t0002	a0001c0039t0002g0266 a0001c0039t0002g0266	1	296	0.0034	-28	c.110 others(49): Show c.1108-14522_1108-14495delGTGAAGCGGATGCAGTGACGCAGA CGCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0165 a0004c0011t0004g0165	1	6	0.1667	-28	c.386 others(47): Show c.3864-3374_3864-3347delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN1_chr6_16294112_16766460	16404683	TGCACGCG others(21): Show TGCACGCGCACTCGCGCGCGCGCACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG01361.hp1 others(21): Show HG00642.hp1 HG01261.hp2 HG01361.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02965.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18960.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0012 others(11): Show a0001c0001 a0001c0008 a0001c0012 a0001c0020 a0001c0042 a0002c0003 a0002c0011 a0002c0018 a0002c0030 a0003c0002 a0003c0013 a0004c0006 a0004c0014 a0005c0016	a0001c0001t0002 a0001c0008t0001 a0001c0008t0002 others(15): Show a0001c0001t0002 a0001c0008t0001 a0001c0008t0002 a0001c0008t0046 a0001c0012t0006 a0001c0012t0039 a0001c0020t0015 a0001c0042t0038 a0002c0003t0033 a0002c0011t0007 a0002c0018t0002 a0002c0030t0011 a0003c0002t0001 a0003c0002t0010 a0003c0013t0002 a0004c0006t0009 a0004c0014t0001 a0005c0016t0001	a0001c0001t0002g0077 a0001c0008t0001g0009 a0001c0008t0002g0013 others(21): Show a0001c0001t0002g0077 a0001c0008t0001g0009 a0001c0008t0002g0013 a0001c0008t0046g0062 a0001c0012t0006g0008 a0001c0012t0006g0014 a0001c0012t0006g0052 a0001c0012t0006g0112 a0001c0012t0006g0113 a0001c0012t0039g0041 a0001c0020t0015g0017 a0001c0042t0038g0087 a0002c0003t0033g0165 a0002c0011t0007g0019 a0002c0011t0007g0151 a0002c0018t0002g0004 a0002c0030t0011g0047 a0003c0002t0001g0071 a0003c0002t0010g0015 a0003c0013t0002g0029 a0004c0006t0009g0110 a0004c0014t0001g0176 a0005c0016t0001g0025 a0005c0016t0001g0127	24	180	0.1333	-28	c.-16 others(49): Show c.-160-76241_-160-76214delGTGTGTGCGCGCGCGCGAGTGCGC GTGC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN7L1_chr7_105599772_105881599	105662019	TTTCTTTC others(21): Show TTTCTTTCTTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0210 a0001c0001t0051g0210	1	225	0.0044	-28	c.578 others(45): Show c.578+3019_578+3046delGGAAGGAAGGAAGGAAGGAAAGAAAGAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533856	AAATAAAA others(21): Show AAATAAAAATAAAAAAAAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02074.hp1 HG02074.hp2 others(14): Show HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02976.hp1 NA18939.hp1 NA18948.hp2 NA18955.hp2 NA18960.hp1 NA18974.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA19012.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0073 a0001c0002t0006 a0001c0001t0002 a0001c0001t0073 a0001c0002t0006	a0001c0001t0002g0000 a0001c0001t0073g0000 a0001c0002t0006g0000 a0001c0001t0002g0000 a0001c0001t0073g0000 a0001c0002t0006g0000	17	405	0.0420	-28	c.-42 others(39): Show c.-4256_-4229delAATAAAAATAAAAAAAAAATAAATAAAT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		3978		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63867626	AAGGCGGG others(21): Show AAGGCGGGTGGATCATTTGAGGTAGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03041.hp1 HG02895.hp2 HG03041.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0289 a0005c0008t0002g0290 a0005c0008t0002g0289 a0005c0008t0002g0290	2	298	0.0067	-28	c.-11 others(47): Show c.-111+3491_-111+3518delAGGCCGAGGCGGGTGGATCATTTGAG GT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUTS2_chr7_69593475_70798506	69602032	ATATATAT others(21): Show ATATATATATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03239.hp2 HG01884.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0066 a0001c0001t0010g0065 a0001c0001t0003g0066 a0001c0001t0010g0065	2	51	0.0392	-28	c.309 others(45): Show c.309+2072_309+2099delATATATATGTGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69602036	ATATATGT others(21): Show ATATATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	76	0.0132	-28	c.309 others(45): Show c.309+2076_309+2103delATATGTGTGTGTGTGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69946557	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(16): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(11): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033	a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(16): Show a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014	19	20	0.9500	-28	c.522 others(47): Show c.522+47082_522+47109delACACACACACACACACACACACACAC AC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33933520	CACACAGA others(21): Show CACACAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0263 a0004c0005t0007g0263	1	167	0.0060	-28	c.446 others(47): Show c.446-57553_446-57526delCTCTCTCTCTCTCTCTCTCTCTCTGT GT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933522	CACAGAGA others(21): Show CACAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp1 HG01952.hp1 others(1): Show HG00323.hp1 HG01943.hp1 HG01952.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0120 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0257	4	230	0.0174	-28	c.446 others(47): Show c.446-57555_446-57528delCTCTCTCTCTCTCTCTCTCTCTCTCT GT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02083.hp2 HG00280.hp1 HG02083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0008 a0002c0002t0002g0001 a0001c0001t0002g0008 a0002c0002t0002g0001	2	172	0.0116	-28	c.287 others(43): Show c.287+711_287+738delACACACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AWAT2_chrX_70035542_70054938	70052315	TATATTCT others(21): Show TATATTCTGGTGGAGGAAGACAAATGATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0069 a0002c0005t0006g0069	1	336	0.0030	-28	c.-24 others(39): Show c.-2411_-2384delTATCATTTGTCTTCCTCCACCAGAATAT	AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding		2378		chrX	TogoVar
AXDND1_chr1_179360971_179559735	179421035	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(76): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02523.hp1 HG02698.hp1 HG03017.hp1 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0016 a0022	a0001c0002 a0001c0006 a0001c0011 others(7): Show a0001c0002 a0001c0006 a0001c0011 a0001c0021 a0002c0001 a0002c0019 a0002c0023 a0011c0014 a0016c0024 a0022c0025	a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 others(7): Show a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 a0001c0021t0001 a0002c0001t0001 a0002c0019t0001 a0002c0023t0001 a0011c0014t0001 a0016c0024t0001 a0022c0025t0001	a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(76): Show a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0210 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0314 a0001c0006t0001g0136 a0001c0011t0001g0085 a0001c0011t0001g0086 a0001c0011t0001g0087 a0001c0011t0001g0118 a0001c0011t0001g0157 a0001c0021t0001g0129 a0001c0021t0001g0130 a0002c0001t0001g0133 a0002c0019t0001g0046 a0002c0019t0001g0112 a0002c0023t0001g0184 a0002c0023t0001g0186 a0011c0014t0001g0116 a0011c0014t0001g0121 a0011c0014t0001g0139 a0016c0024t0001g0145 a0022c0025t0001g0092	79	122	0.6475	-28	c.123 others(47): Show c.1231-8450_1231-8423delCCTTCCTTCCTTCCTTCCTTCCTTCC TT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474969	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0095 a0001c0001t0037g0095	1	337	0.0030	-28	c.652 others(45): Show c.652-4037_652-4010delAAAAAAAAAATATATATATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GALT5_chr21_39607940_39678137	39623217	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00621.hp2 others(14): Show HG00280.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG01099.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG03139.hp2 HG03579.hp1 NA18985.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0027 a0001c0001t0030 a0001c0001t0046 a0001c0001t0115 a0002c0002t0004 a0002c0002t0023 a0002c0002t0025 a0002c0002t0076 a0002c0002t0093 a0002c0002t0095 a0002c0002t0108 a0002c0002t0112	a0001c0001t0002g0130 a0001c0001t0005g0128 a0001c0001t0017g0291 others(13): Show a0001c0001t0002g0130 a0001c0001t0005g0128 a0001c0001t0017g0291 a0001c0001t0027g0262 a0001c0001t0030g0045 a0001c0001t0046g0261 a0001c0001t0115g0129 a0002c0002t0004g0041 a0002c0002t0004g0110 a0002c0002t0023g0033 a0002c0002t0025g0007 a0002c0002t0076g0293 a0002c0002t0093g0040 a0002c0002t0095g0294 a0002c0002t0108g0295 a0002c0002t0112g0032	17	316	0.0538	-28	c.-39 others(49): Show c.-392+10154_-392+10181delCCCTCCCTCCCTCCCTCCCTCCCT TCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134392260	ATGGAACT others(21): Show ATGGAACTGAGTCCTGACTTAAGGGCCCG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0133 a0001c0001t0040g0133	1	276	0.0036	-28	c.-28 others(47): Show c.-281-4348_-281-4321delCGGGCCCTTAAGTCAGGACTCAGTTC CA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134403979	TTCTTTAT others(21): Show TTCTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 NA19000.hp2 others(2): Show HG01257.hp1 HG01258.hp2 NA19000.hp2 NA19011.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0029 a0001c0001t0004g0230 a0001c0001t0014g0069 others(1): Show a0001c0001t0004g0029 a0001c0001t0004g0230 a0001c0001t0014g0069 a0001c0001t0014g0071	5	315	0.0159	-28	c.-28 others(47): Show c.-282+7800_-282+7827delTATATATATATATATATATATATAAA GA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GNT4_chr12_122198709_122213952	122203645	GGCCCCAA others(21): Show GGCCCCAAACCCGCCCCCGCCAGAACCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02258.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	2	410	0.0049	-28	c.-25 others(37): Show c.-253_-226delGCCCCAAACCCGCCCCCGCCAGAACCCC	B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding		63		chr12	TogoVar
B3GNTL1_chr17_82937149_83056770	82958993	TGTGTGTG others(21): Show TGTGTGTGTATACTGTGTGGGGGTGTATG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02273.hp2 NA18980.hp2 others(2): Show HG02132.hp2 HG02273.hp2 NA18980.hp2 NA19062.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0005 others(1): Show a0001c0002 a0001c0012 a0002c0005 a0002c0009	a0001c0002t0010 a0001c0012t0002 a0002c0005t0003 others(1): Show a0001c0002t0010 a0001c0012t0002 a0002c0005t0003 a0002c0009t0003	a0001c0002t0010g0133 a0001c0012t0002g0080 a0002c0005t0003g0058 others(2): Show a0001c0002t0010g0133 a0001c0012t0002g0080 a0002c0005t0003g0058 a0002c0005t0003g0063 a0002c0009t0003g0100	5	266	0.0188	-28	c.681 others(45): Show c.681-1527_681-1500delCATACACCCCCACACAGTATACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82959007	GTGTGGGG others(21): Show GTGTGGGGGTGTATGGTGTGTGTGTATAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp1 others(95): Show HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18983.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0014 a0002c0010 a0004c0017 a0005c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0022 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0015 a0001c0003t0021 a0001c0006t0002 a0001c0006t0008 a0001c0006t0018 a0001c0007t0004 a0001c0008t0021 a0001c0011t0010 a0001c0011t0011 a0001c0011t0012 a0001c0013t0012 a0001c0014t0001 a0001c0014t0002 a0001c0014t0018 a0002c0010t0007 a0004c0017t0002 a0005c0028t0002	a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(93): Show a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0134 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0004g0247 a0001c0001t0005g0255 a0001c0001t0006g0158 a0001c0001t0010g0184 a0001c0001t0012g0149 a0001c0001t0022g0233 a0001c0001t0022g0243 a0001c0001t0032g0164 a0001c0001t0036g0248 a0001c0001t0037g0257 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0006g0129 a0001c0002t0008g0070 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0109 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0025g0095 a0001c0002t0028g0121 a0001c0002t0029g0074 a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0003t0004g0197 a0001c0003t0004g0202 a0001c0003t0004g0219 a0001c0003t0015g0223 a0001c0003t0021g0221 a0001c0006t0002g0026 a0001c0006t0008g0021 a0001c0006t0018g0017 a0001c0007t0004g0245 a0001c0008t0021g0216 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0014t0001g0013 a0001c0014t0002g0012 a0001c0014t0018g0050 a0002c0010t0007g0196 a0004c0017t0002g0138 a0005c0028t0002g0107	98	255	0.3843	-28	c.681 others(45): Show c.681-1541_681-1514delGTATACACACACACCATACACCCCCACA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83002858	GTCCGCGT others(21): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02572.hp2 others(4): Show HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG03130.hp2 HG03516.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0014 others(1): Show a0001c0001 a0001c0006 a0001c0014 a0002c0010	a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 a0001c0006t0018 a0001c0006t0033 a0001c0014t0002 a0002c0010t0007	a0001c0001t0002g0134 a0001c0001t0011g0068 a0001c0001t0039g0259 others(4): Show a0001c0001t0002g0134 a0001c0001t0011g0068 a0001c0001t0039g0259 a0001c0006t0018g0017 a0001c0006t0033g0046 a0001c0014t0002g0012 a0002c0010t0007g0196	7	262	0.0267	-28	c.459 others(45): Show c.459+2229_459+2256delGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003159	GTCCGCGT others(21): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00597.hp1 others(108): Show HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19012.hp1 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0014 a0001c0029 a0002c0005 a0002c0009 a0002c0010 a0002c0022 a0006c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0016 a0001c0002t0025 a0001c0003t0005 a0001c0003t0009 a0001c0003t0014 a0001c0003t0015 a0001c0003t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0023 a0001c0006t0033 a0001c0007t0001 a0001c0007t0004 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0011t0030 a0001c0013t0012 a0001c0014t0018 a0001c0029t0001 a0002c0005t0003 a0002c0005t0007 a0002c0009t0013 a0002c0009t0024 a0002c0010t0007 a0002c0022t0003 a0006c0026t0006	a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(102): Show a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0157 a0001c0001t0002g0173 a0001c0001t0004g0229 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0006g0183 a0001c0001t0009g0249 a0001c0001t0010g0184 a0001c0001t0037g0257 a0001c0002t0001g0117 a0001c0002t0001g0130 a0001c0002t0002g0076 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0006g0108 a0001c0002t0006g0128 a0001c0002t0008g0096 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0109 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0002t0025g0095 a0001c0003t0005g0224 a0001c0003t0009g0203 a0001c0003t0009g0205 a0001c0003t0009g0211 a0001c0003t0009g0213 a0001c0003t0014g0193 a0001c0003t0015g0223 a0001c0003t0021g0221 a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0010g0035 a0001c0004t0026g0048 a0001c0006t0001g0023 a0001c0006t0002g0026 a0001c0006t0002g0041 a0001c0006t0006g0007 a0001c0006t0006g0025 a0001c0006t0006g0039 a0001c0006t0008g0021 a0001c0006t0010g0011 a0001c0006t0023g0031 a0001c0006t0033g0046 a0001c0007t0001g0003 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0004g0244 a0001c0007t0005g0226 a0001c0007t0005g0227 a0001c0007t0005g0242 a0001c0008t0004g0212 a0001c0008t0005g0190 a0001c0008t0005g0191 a0001c0008t0005g0210 a0001c0008t0005g0225 a0001c0008t0014g0198 a0001c0008t0014g0215 a0001c0008t0021g0216 a0001c0008t0038g0217 a0001c0011t0030g0144 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0014t0018g0050 a0001c0029t0001g0142 a0002c0005t0003g0056 a0002c0005t0003g0163 a0002c0005t0003g0174 a0002c0005t0007g0006 a0002c0005t0007g0260 a0002c0009t0013g0118 a0002c0009t0013g0120 a0002c0009t0024g0119 a0002c0010t0007g0005 a0002c0010t0007g0207 a0002c0010t0007g0208 a0002c0010t0007g0209 a0002c0010t0007g0218 a0002c0022t0003g0030 a0006c0026t0006g0175	111	241	0.4606	-28	c.459 others(45): Show c.459+1928_459+1955delGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	512130	ACCTTCCA others(21): Show ACCTTCCACCTTCCACCTTCCGCCTTCCG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18941.hp2 HG02280.hp1 NA18941.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0015 a0003c0004t0080 a0001c0001t0015 a0003c0004t0080	a0001c0001t0015g0224 a0003c0004t0080g0201 a0001c0001t0015g0224 a0003c0004t0080g0201	2	390	0.0051	-28	c.170 others(47): Show c.170-23022_170-22995delACCTTCCGCCTTCCGCCTTCCACCTT CC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALT3_chr1_161166310_161182507	161179281	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01069.hp1 others(14): Show HG00621.hp1 HG00735.hp1 HG01069.hp1 HG01261.hp1 HG01516.hp2 HG02004.hp2 HG02109.hp2 HG02615.hp2 HG02698.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp2 NA18986.hp2 NA18993.hp2 NA19086.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0002t0001g0003	17	105	0.1619	-28	c.-20 others(39): Show c.-2047_-2020delGGAAGGAAGGAAGGAAGGAAGGAAGGAA	B4GALT3	ENSG00000158850.15	transcript	ENST00000319769.10	protein_coding		1775		chr1	TogoVar
BAG4_chr8_38171855_38218301	38188670	TATACATG others(21): Show TATACATGTATACATATATACATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	304	0.0033	-28	c.271 others(45): Show c.271-4014_271-3987delCATGTATACATATATACATGTATACATA	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201862	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	301	0.0033	-28	c.379 others(45): Show c.379-5648_379-5621delATATATATATATATATATTTTTTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81411502	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0024 a0013c0027t0001g0024	1	327	0.0031	-28	c.178 others(47): Show c.178+11589_178+11616delGCCTGCCTGCCTTCCTTCCTTCCTTC CT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81425565	TGGTGATG others(21): Show TGGTGATGTGGTTGGGGGTGATAGTGGTG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0009 a0009	a0009c0072 a0009c0072	a0009c0072t0002 a0009c0072t0002	a0009c0072t0002g0193 a0009c0072t0002g0193	1	330	0.0030	-28	c.179 others(45): Show c.179-1192_179-1165delGGGTGATAGTGGTGGGTGATGTGGTTGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHD1_chr15_40435953_40473236	40447560	GAATAAAT others(21): Show GAATAAATAAATAAATAAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	32	0.0313	-28	c.-15 others(45): Show c.-15+6319_-15+6346delTAAATAAATAAATAAATAAATAAATAAA	BAHD1	ENSG00000140320.12	transcript	ENST00000416165.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405332	GCTTGCTT others(21): Show GCTTGCTTGCTTGCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	252	0.0040	-28	c.-45 others(39): Show c.-4508_-4481delAAAGAAAGAAAGAAAGCAAGCAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4243		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405336	GCTTGCTT others(21): Show GCTTGCTTGCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	272	0.0037	-28	c.-45 others(39): Show c.-4512_-4485delAAAGAAAGAAAGAAAGAAAGCAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4247		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405340	GCTTGCTT others(21): Show GCTTGCTTTCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02273.hp2 HG02602.hp1 others(3): Show HG00621.hp1 HG02273.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0003t0003 a0001c0003t0015 others(1): Show a0001c0001t0004 a0001c0003t0003 a0001c0003t0015 a0001c0004t0003	a0001c0001t0004g0156 a0001c0001t0004g0163 a0001c0001t0004g0179 others(3): Show a0001c0001t0004g0156 a0001c0001t0004g0163 a0001c0001t0004g0179 a0001c0003t0003g0116 a0001c0003t0015g0100 a0001c0004t0003g0149	6	263	0.0228	-28	c.-45 others(39): Show c.-4516_-4489delAAAGAAAGAAAGAAAGAAAGAAAGCAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4251		chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98405344	GCTTTCTT others(21): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG01361.hp2 others(15): Show HG00423.hp1 HG00558.hp2 HG01361.hp2 HG02040.hp2 HG02083.hp2 HG02615.hp2 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG06807.hp1 NA18943.hp1 NA18970.hp1 NA19043.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0003c0010 a0004c0016	a0001c0003t0003 a0001c0004t0003 a0001c0005t0020 others(4): Show a0001c0003t0003 a0001c0004t0003 a0001c0005t0020 a0001c0007t0003 a0001c0008t0002 a0003c0010t0003 a0004c0016t0003	a0001c0003t0003g0099 a0001c0003t0003g0101 a0001c0003t0003g0103 others(15): Show a0001c0003t0003g0099 a0001c0003t0003g0101 a0001c0003t0003g0103 a0001c0003t0003g0112 a0001c0003t0003g0118 a0001c0003t0003g0132 a0001c0003t0003g0138 a0001c0003t0003g0146 a0001c0004t0003g0106 a0001c0004t0003g0107 a0001c0005t0020g0090 a0001c0007t0003g0085 a0001c0007t0003g0087 a0001c0007t0003g0105 a0001c0008t0002g0196 a0001c0008t0002g0197 a0003c0010t0003g0199 a0004c0016t0003g0102	18	194	0.0928	-28	c.-45 others(39): Show c.-4520_-4493delAAAGAAAGAAAGAAAGAAAGAAAGAAAG	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding		4255		chr7	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	29	0.0345	-28	c.469 others(45): Show c.469+9753_469+9780delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANK1_chr4_101785730_102079812	101986845	GTATATAT others(21): Show GTATATATATGTATATATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	276	0.0036	-28	c.120 others(49): Show c.1207-34667_1207-34640delATATATATGTATATATATATGTGT GTAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BARD1_chr2_214720646_214814683	214751101	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02809.hp1 others(6): Show HG01109.hp2 HG02055.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2	a0008 a0009 a0008 a0009	a0008c0009 a0009c0012 a0008c0009 a0009c0012	a0008c0009t0021 a0008c0009t0050 a0009c0012t0012 a0008c0009t0021 a0008c0009t0050 a0009c0012t0012	a0008c0009t0021g0003 a0008c0009t0050g0215 a0009c0012t0012g0019 others(3): Show a0008c0009t0021g0003 a0008c0009t0050g0215 a0009c0012t0012g0019 a0009c0012t0012g0196 a0009c0012t0012g0197 a0009c0012t0012g0208	9	204	0.0441	-28	c.167 others(47): Show c.1677+1318_1677+1345delTATATATATATACACACACACACACA CA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar

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