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
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(173): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	334	0.0030	180	c.838 others(195): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(173): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	334	0.0030	180	c.838 others(195): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
APCDD1_chr18_10449635_10494949	10462540	C C	CCCTTCCT others(173): Show CCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTCCTTCCCTC CCTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTC CTTCCTTCCTTCCTGTGACCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	422	0.0024	180	c.59- others(195): Show c.59-5851_59-5850insCTCCTTCCTTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTCC TTCCTGTGACCCTCCCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
APOA4_chr11_116815700_116828304	116818348	T T	TTATATAT others(173): Show TTATATATGAATATATATATGAATTATATATGAATATATATGAATATATA TATGAATATATATGAATATATATATGAATATATATATGAATATATATGAA TATATATATGAATATATATATGAATATATATGAATATATATATGAATATA TATGAATATATATATGAATTATATATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	180	c.25 others(191): Show c.2518_*2519insTATTCATATATAATTCATATATATATTCATATAT ATTCATATATATATTCATATATATTCATATATATATTCATATATATATTC ATATATATTCATATATATATTCATATATATATTCATATATATTCATATAT ATATTCATATATATTCATATATAATTCATATATATATTCATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2351		chr11	TogoVar
APOB_chr2_20996429_21049073	21001022	C C	CATTTTAA others(173): Show CATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATT TAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATT ATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAA TATTTTAATTATAAAATATTTAATTATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	350	0.0029	180	c.70 others(189): Show c.707_*708insATTTATAATTAAATATTTTATAATTAAAATATTTAT AATTAAATATTTTATAATTAAAATATTTATAATTAAATATTTTATAATTA AAATATTTATAATTAAATATTTTATAATTAAAATATTTATAATTAAATAT TTTATAATTAAAATATTTATAATTAAATATTTTATAATTAAAAT	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		406		chr2	TogoVar
APOB_chr2_20996429_21049073	21001204	T T	TTTTAATT others(173): Show TTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAAAATATTTA ATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAATTAT AAAATATTTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATA TTTTAATTATAAAAATTTTAATTATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA19030.hp1 HG02647.hp1 NA19030.hp1	a0005 a0043 a0005 a0043	a0005c0004 a0043c0103 a0005c0004 a0043c0103	a0005c0004t0001 a0043c0103t0004 a0005c0004t0001 a0043c0103t0004	a0005c0004t0001g0233 a0043c0103t0004g0237 a0005c0004t0001g0233 a0043c0103t0004g0237	2	350	0.0057	180	c.52 others(189): Show c.525_*526insTATTTTATAATTAAAATTTTTATAATTAAAATATTT ATAATTAAATATTTTATAATTAAAATATTTATAATTAAATATTTTATAAT TAAAATATTTATAATTAAATATTTTATAATTAAAATATTTATAATTAAAT ATTTTATAATTAAAATATTTATAATTAAATATTTTATAATTAAA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		224		chr2	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(173): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGG GGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0204 a0001c0001t0023g0204	1	342	0.0029	180	c.62 others(191): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAGCGGGGCTGCGGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFIP1_chr4_152774954_152917357	152804211	A A	ATTATATA others(173): Show ATTATATATAATATAACATGTATTATATATTATATATAATATAACATGTA TTATATATAATATATAATATAATATGTATTATATATAATATATAATATAA CATGTATTACGTATTATATATATAACATAACATGTATTATATATATTATA TATATATAACATAACATGTATTATATATATT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	342	0.0029	180	c.-10 others(199): Show c.-10+24014_-10+24015insTATATATAATATAACATGTATTATAT ATAATATATAATATAATATGTATTATATATAATATATAATATAACATGTA TTACGTATTATATATATAACATAACATGTATTATATATATTATATATATA TAACATAACATGTATTATATATATTTTATATATAATATAACATGTATTAT ATAT	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693693	A A	ACCTCCAC others(173): Show ACCTCCACCACCACCTCCACCACCTCCACCACCACCACCACCTCCTCCAC CTCCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCACCT CCACCACCACCTCCAACTCCACCACCTCCACCTCCACCTCCACCACCACC TCCACCACCACCTCCTCCACCTCCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	296	0.0034	180	c.67 others(191): Show c.6749_*6750insAGGTGGTGGAGGTGGAGGAGGTGGTGGTGGAGGT GGTGGTGGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGAGGTGGTGGAGGTG GAGGAGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4953		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144687072	C C	CGACCATT others(173): Show CGACCATTTCCCACCCCTGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCCGTGACCACGCACTAGCAGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCCGTGACCACACACTAGCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	246	0.0041	180	c.-14 others(191): Show c.-1469_-1468insACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGCGTGGTCACGGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACAGGGGTGGGAAATGGTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1227		chr8	TogoVar
ARHGDIG_chr16_275591_288010	285902	T T	TCCCAACC others(173): Show TCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0003 a0001c0001t0019g0003	1	442	0.0023	180	c.30 others(191): Show c.3088_*3089insCCCAACCCCAACCCCAACCCCAACCCCAACACCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2893		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1841872	G G	GCGGGAAC others(173): Show GCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGC CGCGACCGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGTCCGCGGCGGGAACTGGGGCCGCGGCGGGA ACTGGGGCCGCGGCGGGAACTGGGGCCGCGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0003 a0002c0058t0003	a0002c0058t0003g0137 a0002c0058t0003g0137	1	363	0.0028	180	c.-47 others(197): Show c.-47-1428_-47-1427insACCGGAACTGGGGCCGCGACCGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGTCCGCGGCGGGA ACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGAC GGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3475042	A A	AGCCTTTC others(173): Show AGCCTTTCACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATT ATCCATCCCAAGCCTTTCACAGCGCTGACAGGGAAACTGAGGCCCAGAGG TTCCCAGATTATCCATCCCAGGCCTTTCACAGCGCTGACAGGGAAACTGA GGCCCAGAGGTTCCCAGATTATCCATCCCAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18747.hp2 HG00609.hp1 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0007t0002 a0002c0002t0003 a0002c0007t0002	a0002c0002t0003g0033 a0002c0007t0002g0045 a0002c0002t0003g0033 a0002c0007t0002g0045	2	334	0.0060	180	c.138 others(197): Show c.1380+319_1380+320insAGCCTTTCACAGCGCTGACAGGGAAACT GAGGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTCACAGCGCTGA CAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTC ACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCC CA	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3475042	A A	AGCCTTTC others(173): Show AGCCTTTCACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATT ATCCATCCCAAGCCTTTCACAGTGCTGACAGGGAAACTGAGGCCCAGAGG TTCCCAGATTATCCATCCCAAGCCTTTCACAGCGCTGACAGGGAAACTGA GGCCCAGAGGTTCCCAGATTATCCATCCCAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01257.hp1 others(5): Show HG01081.hp2 HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0007t0002 a0002c0002t0002 a0002c0007t0002	a0002c0002t0002g0006 a0002c0002t0002g0046 a0002c0002t0002g0048 others(4): Show a0002c0002t0002g0006 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0053 a0002c0007t0002g0152	8	334	0.0240	180	c.138 others(197): Show c.1380+319_1380+320insAGCCTTTCACAGTGCTGACAGGGAAACT GAGGCCCAGAGGTTCCCAGATTATCCATCCCAAGCCTTTCACAGCGCTGA CAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTC ACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCC CA	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3475042	A A	AGCCTTTC others(173): Show AGCCTTTCACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATT ATCCATCCCAAGCCTTTCACAGTGCTGACAGGGAAACTGAGGCCCAGAGG TTCCCAGATTATCCATCCCAGGCCTTTCACAGCGCTGACAGGGAAACTGA GGCCCAGAGGTTCCCAGATTATCCATCCCAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(16): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG03927.hp1 NA18941.hp2 NA18950.hp2 NA18960.hp1 NA18999.hp2 NA19057.hp1 NA19064.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0007t0002	a0002c0002t0001g0021 a0002c0002t0002g0035 a0002c0002t0002g0041 others(16): Show a0002c0002t0001g0021 a0002c0002t0002g0035 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0055 a0002c0002t0003g0020 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0034 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0040 a0002c0002t0003g0044 a0002c0007t0002g0157 a0002c0007t0002g0158 a0002c0007t0002g0159 a0002c0007t0002g0195 a0002c0007t0002g0266	19	334	0.0569	180	c.138 others(197): Show c.1380+319_1380+320insAGCCTTTCACAGTGCTGACAGGGAAACT GAGGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTCACAGCGCTGA CAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTC ACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCC CA	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3475474	C C	CGCTGACA others(173): Show CGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCAGG CCTTTCACAGTGCTGACAGGGAAACTGAGGCCCAGAGGTTCCCAGATTAT CCATCCCAGGCCTTTCACAGCGCTGACAGGGAAACTGAGGCCCAGAGGTT CCCAGATTATCCATCCCAGGCCTTTCACAGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0291 a0002c0012t0002g0291	1	334	0.0030	180	c.138 others(197): Show c.1381-437_1381-436insTGCTGACAGGGAAACTGAGGCCCAGAGG TTCCCAGATTATCCATCCCAGGCCTTTCACAGCGCTGACAGGGAAACTGA GGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTCACAGTGCTGACA GGGAAACTGAGGCCCAGAGGTTCCCAGATTATCCATCCCAGGCCTTTCAC AG	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(173): Show CTCCCCCCTCCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCGTCCCCCTCCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	264	0.0038	180	c.102 others(197): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTCCCCCTCCCCC CTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCC CCCCTCCCGTCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC CT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARSB_chr5_78772209_78990310	78818215	G G	GCTAAGAT others(173): Show GCTAAGATCTCTGTAGATCTCTGATACACGACTAAGATCTCTGGAGATCT CTGATACACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCT CTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACA ACTAAGATCTCTGTAGATCTCTGATATACAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0006 a0002c0002t0038g0006	1	360	0.0028	180	c.121 others(201): Show c.1213+21140_1213+21141insTTGTATATCAGAGATCTACAGAGA TCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTATCAGAGA TCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT GTATCAGAGATCTCCAGAGATCTTAGTCGTGTATCAGAGATCTACAGAGA TCTTAG	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818215	G G	GCTAAGAT others(173): Show GCTAAGATCTCTGTAGATCTCTGATACACGACTAAGATCTCTGTAGATCT CTGATACACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCT CTGTAGATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACA ACTAAGATCTCTGTAGATCTCTGATATACAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp2 others(43): Show HG00140.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01952.hp2 HG01993.hp1 HG02293.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18969.hp2 NA18975.hp2 NA19001.hp1 NA19063.hp1 NA19068.hp2 NA19077.hp2 NA19085.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010 a0003c0004 a0003c0014 a0007c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 a0001c0001t0025 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0051 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0003t0015 a0001c0003t0022 a0001c0003t0046 a0001c0005t0032 a0002c0002t0003 a0002c0002t0004 a0002c0002t0030 a0002c0002t0066 a0002c0010t0003 a0003c0004t0001 a0003c0004t0004 a0003c0004t0012 a0003c0014t0015 a0007c0020t0003	a0001c0001t0001g0087 a0001c0001t0001g0265 a0001c0001t0001g0289 others(42): Show a0001c0001t0001g0087 a0001c0001t0001g0265 a0001c0001t0001g0289 a0001c0001t0003g0019 a0001c0001t0003g0064 a0001c0001t0004g0238 a0001c0001t0004g0337 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0007g0181 a0001c0001t0007g0250 a0001c0001t0008g0065 a0001c0001t0008g0113 a0001c0001t0008g0131 a0001c0001t0009g0226 a0001c0001t0014g0189 a0001c0001t0020g0290 a0001c0001t0025g0316 a0001c0001t0037g0059 a0001c0001t0039g0291 a0001c0001t0040g0288 a0001c0001t0051g0239 a0001c0003t0001g0326 a0001c0003t0003g0334 a0001c0003t0010g0157 a0001c0003t0015g0346 a0001c0003t0022g0229 a0001c0003t0046g0343 a0001c0005t0032g0117 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0336 a0002c0002t0004g0096 a0002c0002t0004g0097 a0002c0002t0030g0304 a0002c0002t0066g0355 a0002c0010t0003g0161 a0002c0010t0003g0322 a0003c0004t0001g0001 a0003c0004t0001g0124 a0003c0004t0004g0122 a0003c0004t0012g0123 a0003c0014t0015g0202 a0007c0020t0003g0127	46	360	0.1278	180	c.121 others(201): Show c.1213+21140_1213+21141insTTGTATATCAGAGATCTACAGAGA TCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTATCAGAGA TCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT GTATCAGAGATCTACAGAGATCTTAGTCGTGTATCAGAGATCTACAGAGA TCTTAG	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818215	G G	GCTAAGAT others(173): Show GCTAAGATCTCTGTAGATCTCTGATACACGACTAAGATCTCTGTAGATCT CTGATACACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCT CTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATACACA ACTAAGATCTCTGTAGATCTCTGATATACAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG03130.hp1 others(2): Show HG01891.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0019 a0001c0001 a0001c0009 a0001c0019	a0001c0001t0002 a0001c0001t0006 a0001c0009t0016 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0009t0016 a0001c0019t0022	a0001c0001t0002g0277 a0001c0001t0006g0219 a0001c0009t0016g0271 others(2): Show a0001c0001t0002g0277 a0001c0001t0006g0219 a0001c0009t0016g0271 a0001c0009t0016g0272 a0001c0019t0022g0233	5	360	0.0139	180	c.121 others(201): Show c.1213+21140_1213+21141insTTGTATATCAGAGATCTACAGAGA TCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGA TCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTTAGTTGT GTATCAGAGATCTACAGAGATCTTAGTCGTGTATCAGAGATCTACAGAGA TCTTAG	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818271	C C	CACAACTA others(173): Show CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA CACAACTAAGATCTCTGTAGATCTCTGATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(204): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0021 a0002c0002 a0002c0013 a0003c0004 a0004c0006 a0005c0012 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0034 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0001c0003t0014 a0001c0003t0016 a0001c0003t0025 a0001c0003t0028 a0001c0003t0034 a0001c0003t0041 a0001c0003t0048 a0001c0003t0056 a0001c0003t0058 a0001c0003t0060 a0001c0003t0069 a0001c0003t0070 a0001c0003t0073 a0001c0005t0013 a0001c0005t0017 a0001c0005t0036 a0001c0005t0074 a0001c0007t0036 a0001c0007t0077 a0001c0008t0002 a0001c0008t0008 a0001c0021t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0015 a0002c0002t0019 a0002c0002t0026 a0002c0002t0030 a0002c0002t0033 a0002c0002t0045 a0002c0002t0050 a0002c0002t0052 a0002c0002t0057 a0002c0002t0063 a0002c0002t0064 a0002c0002t0067 a0002c0002t0071 a0002c0013t0017 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0007 a0003c0004t0011 a0003c0004t0014 a0003c0004t0029 a0003c0004t0033 a0003c0004t0054 a0003c0004t0062 a0003c0004t0072 a0004c0006t0004 a0004c0006t0016 a0004c0006t0024 a0005c0012t0032 a0006c0016t0002	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 others(204): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0001g0305 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0335 a0001c0001t0002g0092 a0001c0001t0002g0104 a0001c0001t0002g0145 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0063 a0001c0001t0003g0140 a0001c0001t0003g0214 a0001c0001t0003g0293 a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0003g0327 a0001c0001t0003g0339 a0001c0001t0004g0009 a0001c0001t0004g0020 a0001c0001t0004g0058 a0001c0001t0004g0083 a0001c0001t0004g0330 a0001c0001t0005g0041 a0001c0001t0005g0172 a0001c0001t0005g0195 a0001c0001t0005g0208 a0001c0001t0006g0356 a0001c0001t0007g0333 a0001c0001t0008g0030 a0001c0001t0008g0036 a0001c0001t0008g0040 a0001c0001t0008g0279 a0001c0001t0008g0286 a0001c0001t0008g0297 a0001c0001t0010g0018 a0001c0001t0010g0029 a0001c0001t0010g0141 a0001c0001t0010g0264 a0001c0001t0011g0033 a0001c0001t0011g0046 a0001c0001t0011g0105 a0001c0001t0011g0242 a0001c0001t0013g0170 a0001c0001t0013g0227 a0001c0001t0013g0329 a0001c0001t0019g0249 a0001c0001t0020g0028 a0001c0001t0020g0146 a0001c0001t0021g0173 a0001c0001t0021g0174 a0001c0001t0021g0347 a0001c0001t0024g0182 a0001c0001t0034g0072 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0344 a0001c0003t0002g0078 a0001c0003t0002g0101 a0001c0003t0002g0160 a0001c0003t0002g0262 a0001c0003t0002g0270 a0001c0003t0002g0320 a0001c0003t0002g0338 a0001c0003t0002g0342 a0001c0003t0002g0354 a0001c0003t0006g0103 a0001c0003t0006g0156 a0001c0003t0006g0212 a0001c0003t0006g0267 a0001c0003t0006g0274 a0001c0003t0007g0011 a0001c0003t0007g0012 a0001c0003t0007g0132 a0001c0003t0007g0352 a0001c0003t0012g0089 a0001c0003t0012g0350 a0001c0003t0014g0220 a0001c0003t0016g0258 a0001c0003t0025g0341 a0001c0003t0028g0051 a0001c0003t0034g0071 a0001c0003t0041g0155 a0001c0003t0048g0266 a0001c0003t0056g0022 a0001c0003t0058g0045 a0001c0003t0060g0210 a0001c0003t0069g0273 a0001c0003t0070g0251 a0001c0003t0073g0099 a0001c0005t0013g0004 a0001c0005t0017g0003 a0001c0005t0017g0010 a0001c0005t0036g0275 a0001c0005t0074g0073 a0001c0007t0036g0259 a0001c0007t0077g0070 a0001c0008t0002g0120 a0001c0008t0008g0118 a0001c0021t0003g0358 a0002c0002t0001g0069 a0002c0002t0001g0183 a0002c0002t0001g0231 a0002c0002t0001g0287 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0310 a0002c0002t0002g0125 a0002c0002t0002g0186 a0002c0002t0002g0295 a0002c0002t0002g0312 a0002c0002t0003g0025 a0002c0002t0003g0068 a0002c0002t0003g0129 a0002c0002t0003g0137 a0002c0002t0003g0225 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0306 a0002c0002t0003g0319 a0002c0002t0005g0042 a0002c0002t0005g0192 a0002c0002t0005g0241 a0002c0002t0005g0318 a0002c0002t0005g0325 a0002c0002t0006g0014 a0002c0002t0006g0126 a0002c0002t0006g0191 a0002c0002t0006g0204 a0002c0002t0006g0205 a0002c0002t0006g0206 a0002c0002t0006g0294 a0002c0002t0007g0044 a0002c0002t0007g0081 a0002c0002t0007g0313 a0002c0002t0008g0311 a0002c0002t0009g0066 a0002c0002t0009g0067 a0002c0002t0009g0080 a0002c0002t0009g0121 a0002c0002t0009g0136 a0002c0002t0009g0138 a0002c0002t0009g0193 a0002c0002t0009g0194 a0002c0002t0009g0309 a0002c0002t0011g0230 a0002c0002t0011g0234 a0002c0002t0013g0216 a0002c0002t0013g0240 a0002c0002t0013g0300 a0002c0002t0015g0207 a0002c0002t0015g0296 a0002c0002t0019g0052 a0002c0002t0019g0248 a0002c0002t0019g0303 a0002c0002t0026g0086 a0002c0002t0030g0037 a0002c0002t0033g0217 a0002c0002t0045g0302 a0002c0002t0050g0008 a0002c0002t0052g0098 a0002c0002t0057g0284 a0002c0002t0063g0198 a0002c0002t0064g0285 a0002c0002t0067g0203 a0002c0002t0071g0280 a0002c0013t0017g0015 a0003c0004t0001g0153 a0003c0004t0001g0187 a0003c0004t0002g0128 a0003c0004t0003g0095 a0003c0004t0003g0283 a0003c0004t0003g0292 a0003c0004t0007g0152 a0003c0004t0011g0007 a0003c0004t0014g0164 a0003c0004t0029g0108 a0003c0004t0029g0109 a0003c0004t0033g0282 a0003c0004t0054g0142 a0003c0004t0062g0133 a0003c0004t0072g0323 a0004c0006t0004g0188 a0004c0006t0004g0215 a0004c0006t0016g0221 a0004c0006t0024g0061 a0004c0006t0024g0175 a0005c0012t0032g0180 a0006c0016t0002g0237	207	360	0.5750	180	c.121 others(201): Show c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT CAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTT AGTTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818271	C C	CACAACTA others(173): Show CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG ATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA CACAACTAAGATCTCTGTAGATCTCTGATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00733.hp1 others(20): Show HG00099.hp1 HG00140.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01168.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02895.hp1 HG02976.hp1 HG03195.hp2 HG04184.hp1 NA18972.hp1 NA19066.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0015 a0002c0002 a0002c0011 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0065 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0065 a0001c0003t0002 a0001c0003t0009 a0001c0003t0012 a0001c0003t0027 a0001c0003t0061 a0001c0005t0017 a0001c0005t0035 a0001c0005t0075 a0001c0015t0027 a0002c0002t0001 a0002c0002t0023 a0002c0011t0053 a0003c0004t0023	a0001c0001t0002g0261 a0001c0001t0003g0021 a0001c0001t0065g0017 others(20): Show a0001c0001t0002g0261 a0001c0001t0003g0021 a0001c0001t0065g0017 a0001c0003t0002g0013 a0001c0003t0002g0253 a0001c0003t0002g0349 a0001c0003t0002g0351 a0001c0003t0009g0281 a0001c0003t0012g0232 a0001c0003t0027g0114 a0001c0003t0061g0252 a0001c0005t0017g0255 a0001c0005t0017g0353 a0001c0005t0035g0165 a0001c0005t0075g0112 a0001c0015t0027g0102 a0002c0002t0001g0158 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0023g0162 a0002c0011t0053g0002 a0003c0004t0023g0148 a0003c0004t0023g0151	23	360	0.0639	180	c.121 others(201): Show c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATAT CAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTT AGTTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818271	C C	CACAACTA others(173): Show CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAG ATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATATACAACTAAG ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA CACAACTAAGATCTCTGTAGATCTCTGATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0115 a0001c0001t0007g0115	1	360	0.0028	180	c.121 others(201): Show c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA CAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTTAGTTGTATAT CAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATCTT AGTTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818271	C C	CACAACTA others(173): Show CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAGGATCTCTATAG ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA CACAACTAAGATCTCTGTAGATCTCTGATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0094 a0002c0002t0055g0094	1	360	0.0028	180	c.121 others(201): Show c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT CAGAGATCTATAGAGATCCTAGTTGTATATCAGAGATCTACAGAGATCTT AGTTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818271	C C	CACAACTA others(173): Show CACAACTAAGATCTCTGTAGATCTCTGATATACAACTAGGATCTCTGTAG ATCTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAG ATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATA CACAACTAAGATCTCTGTAGATCTCTGATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(63): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02886.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 NA18946.hp2 NA18961.hp2 NA18963.hp2 NA18968.hp2 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19068.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0017 a0001c0018 a0001c0022 a0002c0002 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0031 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0059 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0018 a0001c0003t0022 a0001c0003t0028 a0001c0003t0035 a0001c0005t0076 a0001c0007t0004 a0001c0017t0002 a0001c0018t0002 a0001c0022t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0025 a0002c0002t0026 a0002c0002t0042 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0004t0007 a0003c0004t0049 a0004c0006t0016	a0001c0001t0001g0135 a0001c0001t0002g0005 a0001c0001t0002g0039 others(63): Show a0001c0001t0001g0135 a0001c0001t0002g0005 a0001c0001t0002g0039 a0001c0001t0002g0143 a0001c0001t0002g0317 a0001c0001t0003g0159 a0001c0001t0003g0167 a0001c0001t0003g0190 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0004g0328 a0001c0001t0005g0038 a0001c0001t0005g0171 a0001c0001t0005g0235 a0001c0001t0008g0223 a0001c0001t0010g0107 a0001c0001t0010g0147 a0001c0001t0010g0244 a0001c0001t0011g0026 a0001c0001t0014g0199 a0001c0001t0031g0324 a0001c0001t0043g0090 a0001c0001t0044g0091 a0001c0001t0047g0043 a0001c0001t0059g0332 a0001c0003t0002g0074 a0001c0003t0002g0082 a0001c0003t0002g0269 a0001c0003t0002g0276 a0001c0003t0003g0050 a0001c0003t0005g0060 a0001c0003t0006g0254 a0001c0003t0012g0166 a0001c0003t0012g0177 a0001c0003t0018g0057 a0001c0003t0022g0178 a0001c0003t0028g0348 a0001c0003t0035g0357 a0001c0005t0076g0268 a0001c0007t0004g0100 a0001c0017t0002g0088 a0001c0018t0002g0016 a0001c0022t0006g0359 a0002c0002t0001g0054 a0002c0002t0001g0345 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0085 a0002c0002t0002g0179 a0002c0002t0002g0314 a0002c0002t0004g0079 a0002c0002t0006g0211 a0002c0002t0012g0228 a0002c0002t0014g0106 a0002c0002t0015g0053 a0002c0002t0018g0308 a0002c0002t0025g0213 a0002c0002t0026g0176 a0002c0002t0042g0224 a0003c0004t0001g0154 a0003c0004t0002g0243 a0003c0004t0004g0149 a0003c0004t0004g0150 a0003c0004t0007g0331 a0003c0004t0049g0139 a0004c0006t0016g0163	66	360	0.1833	180	c.121 others(201): Show c.1213+21084_1213+21085insATATCAGAGATCTACAGAGATCTT AGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTA CAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGTAT CAGAGATCTACAGAGATCCTAGTTGTATATCAGAGATCTACAGAGATCTT AGTTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78818273	C C	CAACTAAG others(173): Show CAACTAAGATCTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGAT CTCTGATACACAACTAAGATCTCTGTAGATCTCTGATACACAACTAAGAT CTCTGTAGATCTCTGATATACAACTAAGATCTCTGTAGATCTCTGATACA CAACTAAGATCTCTGTAGATCTCTGATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18969.hp1 NA18957.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0035 a0002c0002t0005g0340 a0001c0001t0001g0035 a0002c0002t0005g0340	2	360	0.0056	180	c.121 others(201): Show c.1213+21082_1213+21083insATATATCAGAGATCTACAGAGATC TTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATC TACAGAGATCTTAGTTGTGTATCAGAGATCTACAGAGATCTTAGTTGTGT ATCAGAGATCTACAGAGATCTTAGTTGTATATCAGAGATCTACAGAGATC TTAGTT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ASB5_chr4_176208673_176274222	176218883	A A	ATATTTGT others(173): Show ATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATAT ATGTATGATATATAAATATATATTTGTATGATATATAAATATATATATTT GTATGATATATAAATATATATATTTGTATGATATATAAATATATATATAT TTGTATGATATATAAATATATATATTTGTAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18956.hp2 NA18952.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0280 a0001c0002t0001g0024 a0001c0002t0001g0280	2	410	0.0049	180	c.671 others(197): Show c.671-1875_671-1874insATACAAATATATATATTTATATATCATA CAAATATATATATATTTATATATCATACAAATATATATATTTATATATCA TACAAATATATATATTTATATATCATACAAATATATATTTATATATCATA CATATATATTTATATATCATACAAATATATATATTTATATATCATACAAA TA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(173): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGG AGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGG ACGGGGAGGGGAGGGGGAGGGGAGGGGAGAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	216	0.0046	180	c.311 others(197): Show c.311-1311_311-1310insATCTCCCCTCCCCTCCCCCTCCCCTCCC CGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTCCC CCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCG TCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCCTCCCCTC CC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(173): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGTGCGAGGG GGAGGGGGAGGGGAGAGGGAGGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	432	0.0023	180	c.124 others(197): Show c.124+2040_124+2041insTCCCTCCCCCCTCCCTCTCCCCTCCCCC TCCCCCTCGCACTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCC TCCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTC CCCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCC TC	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ATP10A_chr15_25673712_25868327	25758253	A A	ACTCATTC others(173): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	300	0.0033	180	c.655 others(199): Show c.655-22113_655-22112insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGATCGGAA TGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758281	A A	ATTCCGAT others(173): Show ATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0104	1	300	0.0033	180	c.655 others(199): Show c.655-22141_655-22140insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATC GGAA	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758421	A A	ACTCATTC others(173): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	300	0.0033	180	c.655 others(199): Show c.655-22281_655-22280insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAA TGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112731101	A A	ATTTTTTT others(173): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0002 a0008c0023t0002	a0008c0023t0002g0064 a0008c0023t0002g0064	1	254	0.0039	180	c.39+ others(197): Show c.39+40651_39+40652insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707196	T T	TTATATAA others(173): Show TTATATAATATATTATATATAATATAATATATTATATATAATATATTATA TTATATAGAATATATTATATTATATATAATATATTATATTATATAGAATA TATTATATTATATATAATATATTATATTATATAGAATATATTATATTATA TAGAATATATTATATTATATAGAATATATTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG03225.hp2 others(1): Show HG02109.hp2 HG02647.hp1 HG03225.hp2 HG06807.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0103 a0001c0013t0001g0181 a0001c0013t0001g0206 others(1): Show a0001c0013t0001g0103 a0001c0013t0001g0181 a0001c0013t0001g0206 a0001c0013t0001g0366	4	376	0.0106	180	c.243 others(197): Show c.2430-480_2430-479insTAATATATTCTATATAATATAATATATT CTATATAATATAATATATTCTATATAATATAATATATTATATATAATATA ATATATTCTATATAATATAATATATTATATATAATATAATATATTCTATA TAATATAATATATTATATATAATATATTATATTATATATAATATATTATA TA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP9B_chr18_79064394_79383283	79308870	A A	AGCAGGTA others(173): Show AGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAG TGATCCTCCGCAGGTAGAAGGTCAGGGGTGGTGGAGTGATCCCCAGCAGG TAGAAGGTCAGGGATGGAGGAGTGATCCTCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG01952.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0096 a0001c0004t0003g0098 a0001c0004t0002g0096 a0001c0004t0003g0098	2	298	0.0067	180	c.177 others(199): Show c.1773+1655_1773+1656insTGGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA GTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGTGGTGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGATGGAGGAGTGATCCTCCGCAGGTAGAAGGTCA GGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308999	G G	GGTGGAGT others(173): Show GGTGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGGTAGAAGG TCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGA GTGATCTCCAGCAGGTAGAAGGTCAGGGGTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0094 a0001c0004t0003g0094	1	298	0.0034	180	c.177 others(199): Show c.1773+1766_1773+1767insTGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTA GTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGG GTTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309071	G G	GGAGGAGT others(173): Show GGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGGTGGAGTGATCTC CAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCTCCAGCAGGTAGAAGG TCAGGGGTTGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG02723.hp1 HG03130.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0165 a0005c0009t0005g0166	2	298	0.0067	180	c.177 others(199): Show c.1773+1838_1773+1839insAGGAGTGATCTCCAGCAGGTAGAAGG TCAGGGGTGGTGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGA GTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCTCCAGCAG GTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309155	C C	CCCAGCAG others(173): Show CCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG TAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGTGGAGGAGTGATCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	298	0.0034	180	c.177 others(199): Show c.1773+1943_1773+1944insTGGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA GTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCA GGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309577	A A	AGGAGTGA others(173): Show AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCCCCA GCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGT GATCTCCAGCAGGTAGAAGGTCAGGGGTGGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	298	0.0034	180	c.177 others(199): Show c.1773+2382_1773+2383insCTGATCCCCAGCAGGTAGAAGGTCAG GGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAG AAGGTCAGGGGTGGTGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTG AGGA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309682	C C	CTGAGGAG others(173): Show CTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCC CCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAG GTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGG AGTGATCTCCAGCAGGTAGAAGGTCAGGGGT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	298	0.0034	180	c.177 others(199): Show c.1773+2448_1773+2449insTGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAG GGGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
AXIN1_chr16_282440_357723	285902	T T	TCCCAACC others(173): Show TCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0038 a0001c0009t0038	a0001c0009t0038g0275 a0001c0009t0038g0275	1	378	0.0027	180	c.22 others(191): Show c.2219_*2220insGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTT GGGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGA GAACCGCGGGGTTGGTGTTGGGGTTGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
BBS5_chr2_169474494_169511655	169496786	G G	GTGAACCC others(173): Show GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAATACAAAAAATTGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCTAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	398	0.0025	180	c.619 others(195): Show c.619-835_619-834insCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAATACAAAAAATTGGCCGGGCGCGGTGGCGGGCG CCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCHE_chr3_165767904_165842423	165797259	T T	TCCCCCCT others(173): Show TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCC TTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00621.hp1 others(45): Show HG00099.hp2 HG00423.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01934.hp1 HG01943.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG03669.hp1 HG03704.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp1 NA18960.hp1 NA18966.hp2 NA18971.hp2 NA18978.hp2 NA18982.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19012.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA19083.hp1 NA19086.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(35): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234	48	304	0.1579	180	c.151 others(201): Show c.1518-10949_1518-10948insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA GGGGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGG others(173): Show GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGG GGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	276	0.0036	180	c.490 others(199): Show c.490-21336_490-21335insGGGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGG GGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGG GAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAG GGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BIRC7_chr20_63230905_63245495	63234245	A A	ACGCTGGA others(173): Show ACGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAG GGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAGG CGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGTGGGCGCTG GAGGACAGAGAGGGGGCGAAGGCGAGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0016 a0005c0006t0001g0016	1	300	0.0033	180	c.-18 others(191): Show c.-1852_-1851insCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGTG GGCGCTGGAGGACAGGGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACA GAGAGGGGGCGAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAG GCGAGGTGGGCGCTGGAGGACAGAGAGGGGGCGAAGGCGAGGTGGG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1659		chr20	TogoVar
BOC_chr3_113206557_113292459	113236282	G G	GTATATAT others(173): Show GTATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATATATACCCATGGGTATAT ATATATATATATATATATATACCCATGGGTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	386	0.0026	180	c.-81 others(199): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATACC CATGGGTATATATATATATATATATATATATATACCCATGGGTATATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATATA TATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(173): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATATATACCCAT GGGTATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0322 a0001c0003t0003g0322	1	386	0.0026	180	c.-81 others(199): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATACCCATGGGTATATATATATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATATATATATATATACCCATGGGTATATATATATATATATA TATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOP1_chr8_144257045_144296438	144281316	T T	TGGCCTTC others(173): Show TGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTAAT ACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTTGGCCTTCTCTCACTTTCATACCAGGTCTT TGGCCTTCTCTCACTTTAATACCAGGTCTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0169 a0001c0003t0001g0170 a0001c0001t0001g0169 a0001c0003t0001g0170	2	398	0.0050	180	c.310 others(197): Show c.310-5013_310-5012insTAAGACCTGGTATTAAAGTGAGAGAAGG CCAAAGACCTGGTATGAAAGTGAGAGAAGGCCAAAGACCTGGTATTAAAC TGAGGGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCTAAGACCT GGTATTAAAGTGAGAGAAGGCCTAAGACCTGGTATTAAAGTGAGAGAAGG CC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281483	C C	CATACCAG others(173): Show CATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTT CTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGT CTTAGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTTTCTCACTTT AATACCAGGTCTTCGGCCTTCTCTCAGTTTA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	398	0.0025	180	c.310 others(197): Show c.310-5180_310-5179insTAAACTGAGAGAAGGCCGAAGACCTGGT ATTAAAGTGAGAAAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCT AAGACCTGGTATTAAAGTGAGAGAAGGCCTAAGACCTGGTATTAAAGTGA GAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281483	C C	CATACCAG others(173): Show CATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGT CTTAGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTT AATACCAGGTCTTCGGCCTTCTCTCAGTTTA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	398	0.0025	180	c.310 others(197): Show c.310-5180_310-5179insTAAACTGAGAGAAGGCCGAAGACCTGGT ATTAAACTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCT AAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTGA GAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar

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