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
BFSP2_chr3_133395056_133480208	133449982	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	68	0.0147	40	c.730 others(55): Show c.730-284_730-283insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHMT_chr5_79106809_79137288	79137035	C C	CATATGAA others(33): Show CATATGAATATATATATGAATATACATATATGAATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	264	0.0038	40	c.59 others(51): Show c.5919_*5920insATATGAATATATATATGAATATACATATATGAAT ATACAT	BHMT	ENSG00000145692.15	transcript	ENST00000274353.10	protein_coding		4748		chr5	TogoVar
BICC1_chr10_58507872_58836435	58566154	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTATATATACATATACACACGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0073 a0002c0002t0010g0073	1	130	0.0077	40	c.190 others(59): Show c.190+52830_190+52831insGTGTATATATACATATACACACGTGT GTATATGTGTGTGT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32142468	A A	ATCTATCT others(33): Show ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG02129.hp1 others(19): Show HG00438.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02622.hp1 HG02735.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp2 NA18946.hp1 NA18947.hp2 NA18966.hp1 NA18975.hp1 NA18980.hp1 NA18999.hp2 NA19002.hp1 NA19064.hp2 NA19084.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0020 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0025 a0001c0003t0054 a0001c0004t0062	a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0058 others(19): Show a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0255 a0001c0001t0003g0177 a0001c0001t0003g0225 a0001c0001t0008g0119 a0001c0001t0009g0047 a0001c0001t0009g0048 a0001c0001t0009g0081 a0001c0001t0018g0210 a0001c0001t0018g0224 a0001c0001t0020g0230 a0001c0001t0048g0232 a0001c0002t0001g0075 a0001c0002t0002g0049 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0025g0071 a0001c0003t0054g0080 a0001c0004t0062g0040	22	212	0.1038	40	c.213 others(59): Show c.213+34945_213+34946insCTATCTATCTATCTATCGGTCTATCT ATCTATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BIN2_chr12_51276038_51329174	51323400	T T	TCTGAACA others(33): Show TCTGAACACAGATGTGGTTCATCACCCTGGGAGGTGTACTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02717.hp1 others(7): Show HG01891.hp2 HG02145.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03471.hp2 HG03516.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0035 a0001c0001t0001g0338 a0001c0001t0001g0339 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0347 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0343 a0003c0003t0001g0344	10	398	0.0251	40	c.81+ others(53): Show c.81+582_81+621dupGAGTACACCTCCCAGGGTGATGAACCACATCT GTGTTCAG	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC6_chr2_32352023_32623878	32397634	A A	ATGTGTAT others(33): Show ATGTGTATATATATATACACACACACACATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0010 a0010	a0010c0028 a0010c0028	a0010c0028t0001 a0010c0028t0001	a0010c0028t0001g0179 a0010c0028t0001g0179	1	272	0.0037	40	c.103 others(59): Show c.1034+2042_1034+2043insGTGTATATATATATACACACACACAC ATATATGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32508276	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	22	0.0455	40	c.998 others(55): Show c.9980+44_9980+45insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	51/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	104	0.0096	40	c.133 others(61): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLOC1S4_chr4_6711174_6722664	6716006	C C	CAGCGCGC others(33): Show CAGCGCGCATGCGTGAGCGTGAGCGCGCATGCGTGAGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02818.hp1 NA19030.hp1 HG00408.hp2 HG02818.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	446	0.0067	40	c.-20 others(49): Show c.-204_-203insAGCGCGCATGCGTGAGCGTGAGCGCGCATGCGTGAG CGTG	BLOC1S4	ENSG00000186222.5	transcript	ENST00000320776.5	protein_coding		167		chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0090 a0012c0028t0001g0090	1	102	0.0098	40	c.44+ others(55): Show c.44+1862_44+1863insATATATATATATATATATATATATATATAT ATATATATAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRA_chr7_43753680_43812342	43758344	C C	CGGGGCCA others(33): Show CGGGGCCAGGCACACCGTGAGGGGGCCAGGCACACCGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	389	0.0026	40	c.-41 others(49): Show c.-412_-411insGGGGCCAGGCACACCGTGAGGGGGCCAGGCACACCG TGAG	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding		335		chr7	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	320	0.0031	40	c.80- others(55): Show c.80-1701_80-1700insATATATATATATATATATATATATATATAT ATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	71	0.0141	40	c.80- others(55): Show c.80-1703_80-1702insATATATATATATATATATATATATATATAT ATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(33): Show CGTGTGGGGGGGGTGTGTGCGTGTGTGTGTGCGTGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA19000.hp2 NA18953.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0270 a0001c0001t0014g0238 a0001c0001t0004g0270 a0001c0001t0014g0238	2	26	0.0769	40	c.-44 others(51): Show c.-4418_-4417insCCCCCCCACGCACACACACACGCACACACCCCCC CCACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(33): Show CGTGTGGGGGGGTGTGTGCGTGCGTGTGTGCGTGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02486.hp2 others(3): Show HG02109.hp2 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02717.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0133 a0001c0001t0002g0130 a0001c0001t0005g0129 others(3): Show a0001c0001t0001g0133 a0001c0001t0002g0130 a0001c0001t0005g0129 a0001c0001t0005g0131 a0001c0001t0013g0134 a0001c0001t0014g0128	6	30	0.2000	40	c.-44 others(51): Show c.-4418_-4417insCCCCCCCCACGCACACACGCACGCACACACCCCC CCACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(33): Show CGTGTGGGGGGGTGTGTGCGTGTGTGTGTGCGTGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG04199.hp1 HG01109.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0299 a0001c0001t0005g0311 a0001c0001t0002g0299 a0001c0001t0005g0311	2	26	0.0769	40	c.-44 others(51): Show c.-4418_-4417insCCCCCCCCACGCACACACACACGCACACACCCCC CCACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMF_chr15_40082890_40113879	40113056	C C	CGTGTGGG others(33): Show CGTGTGGGGGGTGTGTGTGCGTGCGTGTGTGCGTGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0077 a0001c0001t0047g0077	1	25	0.0400	40	c.-44 others(51): Show c.-4418_-4417insCCCCCCCACGCACACACGCACGCACACACACCCC CCACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4178		chr15	TogoVar
BMPER_chr7_33900539_34161427	33940825	A A	ATATATTA others(33): Show ATATATTATATATATTTATATATAATAGAATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 HG02258.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0030 a0001c0001t0007 a0001c0004t0030	a0001c0001t0007g0004 a0001c0004t0030g0003 a0001c0001t0007g0004 a0001c0004t0030g0003	2	230	0.0087	40	c.319 others(57): Show c.319+3444_319+3445insTATATATTTATATATAATAGAATTTATA TATATTATATTA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129630	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	7	0.1429	40	c.174 others(61): Show c.1746-13597_1746-13596insGAGAGAGAAAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01071.hp2 others(12): Show HG00099.hp2 HG00621.hp1 HG01071.hp2 HG01978.hp1 HG01981.hp2 HG02129.hp2 HG04228.hp1 NA18943.hp2 NA18951.hp2 NA18952.hp2 NA18965.hp2 NA18971.hp1 NA18972.hp2 NA19068.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 others(4): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0002c0001t0008	a0001c0002t0003g0082 a0001c0002t0003g0108 a0001c0002t0003g0116 others(12): Show a0001c0002t0003g0082 a0001c0002t0003g0108 a0001c0002t0003g0116 a0001c0002t0003g0276 a0001c0002t0004g0065 a0001c0002t0004g0278 a0001c0002t0016g0097 a0001c0002t0016g0101 a0001c0002t0016g0114 a0001c0002t0017g0038 a0001c0002t0017g0118 a0001c0002t0029g0064 a0001c0002t0030g0140 a0002c0001t0008g0057 a0002c0001t0008g0058	15	191	0.0785	40	c.-26 others(61): Show c.-267-14753_-267-14752insGTGTGTGTGTGTTTGTGTGTGTGT GTGTGTGTTTGTGTGT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0159 a0001c0003t0020g0159	1	121	0.0083	40	c.75 others(51): Show c.7579_*7580insACACACACACACACATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(33): Show CACACACACACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0156 a0001c0002t0021g0156	1	121	0.0083	40	c.75 others(51): Show c.7579_*7580insACACACACACATATATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(33): Show CACACACACATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02486.hp1 HG01934.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0021 a0001c0002t0003 a0001c0002t0021	a0001c0002t0003g0115 a0001c0002t0021g0155 a0001c0002t0003g0115 a0001c0002t0021g0155	2	122	0.0164	40	c.75 others(51): Show c.7579_*7580insACACACACATATATATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(33): Show CACACACATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 NA18943.hp2 NA19007.hp1 HG01981.hp2 NA18943.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0016 a0001c0002t0030 a0001c0002t0004 a0001c0002t0016 a0001c0002t0030	a0001c0002t0004g0102 a0001c0002t0016g0114 a0001c0002t0030g0140 a0001c0002t0004g0102 a0001c0002t0016g0114 a0001c0002t0030g0140	3	123	0.0244	40	c.75 others(51): Show c.7579_*7580insACACACATATATATATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACATA others(33): Show CACACATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0087 a0001c0002t0017g0087	1	121	0.0083	40	c.75 others(51): Show c.7579_*7580insACACATATATATATATATATATATATATATATAT ATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94980991	T T	TCACACAC others(33): Show TCACACACACACACGCGCGCATACGCGTGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0223 a0001c0001t0038g0223	1	217	0.0046	40	c.-11 others(61): Show c.-112-15036_-112-15035insGCGCGCATACGCGTGCGCGCGCGC ACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19056.hp2 HG03669.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0083 a0001c0001t0037 a0001c0001t0083	a0001c0001t0037g0059 a0001c0001t0083g0004 a0001c0001t0037g0059 a0001c0001t0083g0004	2	16	0.1250	40	c.3+9 others(53): Show c.3+9464_3+9465insATATATATATATATATATATATATATATATAT ATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BOC_chr3_113206557_113292459	113236294	A A	ATATATAC others(33): Show ATATATACCCATGGGTATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp1 HG02723.hp1 HG03453.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0201 a0001c0012t0001g0372 a0001c0012t0001g0201 a0001c0012t0001g0372	2	379	0.0053	40	c.-81 others(59): Show c.-81-13422_-81-13421insCCCATGGGTATATATATATATATATA CCCATGGGTATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	AAGAACAG others(33): Show AAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp1 HG01361.hp2 others(10): Show HG01256.hp1 HG01361.hp1 HG01361.hp2 HG02155.hp2 HG02300.hp1 HG02698.hp1 HG03195.hp1 HG03710.hp2 HG04199.hp2 NA18948.hp2 NA18967.hp2 NA19074.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0015 a0001c0002 a0001c0010 a0001c0015	a0001c0002t0002 a0001c0002t0010 a0001c0002t0020 others(3): Show a0001c0002t0002 a0001c0002t0010 a0001c0002t0020 a0001c0002t0037 a0001c0010t0003 a0001c0015t0001	a0001c0002t0002g0030 a0001c0002t0002g0178 a0001c0002t0002g0284 others(10): Show a0001c0002t0002g0030 a0001c0002t0002g0178 a0001c0002t0002g0284 a0001c0002t0002g0311 a0001c0002t0002g0326 a0001c0002t0002g0331 a0001c0002t0002g0350 a0001c0002t0002g0366 a0001c0002t0010g0265 a0001c0002t0020g0274 a0001c0002t0037g0116 a0001c0010t0003g0213 a0001c0015t0001g0183	13	188	0.0691	40	c.377 others(57): Show c.377-7546_377-7545insAACAGAACAGAACAGAACAGAACAGAAC AGAACAGAACAG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAAAG others(33): Show ACAGAAAGAACAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG02056.hp2 others(10): Show HG00438.hp1 HG02040.hp2 HG02056.hp2 HG02738.hp2 HG03710.hp1 HG06807.hp1 NA18612.hp2 NA18951.hp1 NA18963.hp1 NA19005.hp2 NA19054.hp1 NA19087.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0008 a0001c0010 others(1): Show a0001c0002 a0001c0008 a0001c0010 a0004c0011	a0001c0002t0002 a0001c0002t0003 a0001c0008t0011 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0008t0011 a0001c0010t0003 a0004c0011t0011	a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0058 others(10): Show a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0058 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0237 a0001c0002t0002g0341 a0001c0002t0003g0361 a0001c0008t0011g0147 a0001c0010t0003g0215 a0004c0011t0011g0149	13	188	0.0691	40	c.377 others(57): Show c.377-7578_377-7577insCAGAAAGAACAGAACAGAACAGAACAGA ACAGAACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(33): Show ACAGAACAGAAAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18999.hp1 NA19060.hp2 HG00738.hp1 NA18999.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0015 a0001c0002 a0001c0008 a0001c0015	a0001c0002t0002 a0001c0008t0005 a0001c0015t0001 a0001c0002t0002 a0001c0008t0005 a0001c0015t0001	a0001c0002t0002g0025 a0001c0008t0005g0043 a0001c0015t0001g0088 a0001c0002t0002g0025 a0001c0008t0005g0043 a0001c0015t0001g0088	3	178	0.0169	40	c.377 others(57): Show c.377-7578_377-7577insCAGAACAGAAAGAACAGAACAGAACAGA ACAGAACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(33): Show ACAGAACAGAACAGAAAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0200 a0001c0002t0002g0200	1	176	0.0057	40	c.377 others(57): Show c.377-7578_377-7577insCAGAACAGAACAGAAAGAACAGAACAGA ACAGAACAGAAC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(33): Show GAAACAGACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	204	0.0049	40	c.-97 others(49): Show c.-971_-970insAAACAGACACACACACACACACACACACACACACAC ACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BOK_chr2_241553745_241579131	241573135	T T	TGGTGAAG others(33): Show TGGTGAAGGGGCCCGGAACACCTGCTCTCACCTGAGCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(94): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG01175.hp1 HG01346.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19059.hp2 NA19060.hp1 NA19065.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0010 a0001c0001 a0001c0008 a0004c0010	a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0031 a0001c0001t0037 a0001c0008t0002 a0004c0010t0002	a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 others(69): Show a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0068 a0001c0001t0002g0089 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0012g0084 a0001c0001t0012g0095 a0001c0001t0012g0098 a0001c0001t0012g0100 a0001c0001t0012g0108 a0001c0001t0014g0017 a0001c0001t0014g0160 a0001c0001t0020g0003 a0001c0001t0020g0177 a0001c0001t0031g0232 a0001c0001t0037g0210 a0001c0008t0002g0128 a0004c0010t0002g0130	97	414	0.2343	40	c.73 others(49): Show c.733_*734insCTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGA ACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	734	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241573156	T T	TTGCTCTC others(33): Show TTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(185): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19059.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0006c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(14): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0040 a0001c0001t0046 a0001c0002t0001 a0001c0009t0001 a0002c0003t0026 a0006c0005t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(105): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0007g0008 a0001c0001t0007g0056 a0001c0001t0007g0165 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0217 a0001c0001t0007g0258 a0001c0001t0007g0259 a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0013g0002 a0001c0001t0013g0225 a0001c0001t0015g0162 a0001c0001t0015g0176 a0001c0001t0015g0241 a0001c0001t0015g0242 a0001c0001t0017g0086 a0001c0001t0017g0090 a0001c0001t0017g0091 a0001c0001t0017g0106 a0001c0001t0019g0038 a0001c0001t0019g0172 a0001c0001t0023g0111 a0001c0001t0023g0206 a0001c0001t0027g0153 a0001c0001t0027g0178 a0001c0001t0028g0051 a0001c0001t0032g0231 a0001c0001t0034g0116 a0001c0001t0040g0008 a0001c0001t0046g0092 a0001c0002t0001g0013 a0001c0002t0001g0039 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0009t0001g0139 a0002c0003t0026g0036 a0006c0005t0007g0188	188	277	0.6787	40	c.75 others(49): Show c.753_*792dupAGGTGAAGGGGCCCGGAACACCTGCTCTCACCTGAG CCCC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	793	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241573238	G G	GCTCTCAC others(33): Show GCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACACCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	432	0.0023	40	c.85 others(49): Show c.859_*898dupCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACACC TCCT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	899	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOP1_chr8_144257045_144296438	144262838	G G	GCCCCCCC others(33): Show GCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	364	0.0027	40	c.189 others(55): Show c.1894+14_1894+15insGGGGGGCGGTGTACCCTGCAGGTGAGGGGT GGGGGGGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262838	G G	GCCCCCCC others(33): Show GCCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	364	0.0027	40	c.189 others(55): Show c.1894+14_1894+15insGGGGGCGGTGTACCCTGCAGGTGAGGGGTG GGGGGGGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BPIFA1_chr20_33230996_33248306	33231154	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	341	0.0029	40	c.-49 others(51): Show c.-4912_-4911insAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4841		chr20	TogoVar
BPIFA1_chr20_33230996_33248306	33231205	G G	GGAAGAAA others(33): Show GGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	245	0.0041	40	c.-48 others(51): Show c.-4861_-4860insGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4790		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231154	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	378	0.0026	40	c.35 others(51): Show c.3537_*3538insAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3349		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33231205	G G	GGAAGAAA others(33): Show GGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0051 a0001c0007t0001g0051	1	254	0.0039	40	c.35 others(51): Show c.3588_*3589insGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAA	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding		3400		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02083.hp2 HG02559.hp2 HG01433.hp2 HG02083.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0013 a0001c0001t0002g0206 a0001c0001t0006g0180 a0001c0001t0002g0013 a0001c0001t0002g0206 a0001c0001t0006g0180	3	24	0.1250	40	c.77 others(51): Show c.7748_*7749insATATATATATATATATATATATATATATATATAT ATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPNT2_chr8_56952931_56998867	56973114	T T	TCCACTGA others(33): Show TCCACTGATGCTTTGACCCTGAAGTCTGAAAGTACTTTGCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	354	0.0028	40	c.646 others(57): Show c.646+4896_646+4935dupGGCAAAGTACTTTCAGACTTCAGGGTCA AAGCATCAGTGG	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	3/4			chr8	TogoVar
BPTF_chr17_67820503_67989378	67917130	C C	CATTGTCC others(33): Show CATTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0014 a0002c0006t0002g0014	1	255	0.0039	40	c.530 others(59): Show c.5304-1584_5304-1583insATTGTCCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100657	C C	CATATATA others(33): Show CATATATATATGTTATATATATATACATATATATAACATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp1 HG03139.hp2 HG02280.hp1 HG03098.hp1 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0011 a0003c0003t0003 a0003c0003t0011	a0003c0003t0003g0001 a0003c0003t0003g0126 a0003c0003t0011g0110 a0003c0003t0003g0001 a0003c0003t0003g0126 a0003c0003t0011g0110	3	187	0.0160	40	c.442 others(55): Show c.442-778_442-777insATATGTTATATATATGTATATATATATAAC ATATATATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRD1_chr22_49768283_49832873	49775816	C C	CCCCCCCC others(33): Show CCCCCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	256	0.0039	40	c.323 others(55): Show c.3232-72_3232-71insATCTGAGGAGGCTCACACAGCTGCGGGGGG CGGGGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRF1_chr14_105204286_105306001	105248555	C C	CGGCGGGT others(33): Show CGGCGGGTACGGGCTCGGGCGGGCGGGTACGGGCTCGGGCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	66	0.0152	40	c.544 others(57): Show c.544+3951_544+3952insCGCCCGAGCCCGTACCCGCCCGCCCGAG CCCGTACCCGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	5/17			chr14	TogoVar
BRINP1_chr9_119161629_119374435	119367221	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18747.hp2 NA18994.hp2 others(1): Show HG02135.hp1 NA18747.hp2 NA18994.hp2 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0003c0008t0001	a0001c0001t0001g0088 a0001c0002t0001g0090 a0001c0002t0006g0013 others(1): Show a0001c0001t0001g0088 a0001c0002t0001g0090 a0001c0002t0006g0013 a0003c0008t0001g0089	4	21	0.1905	40	c.-51 others(57): Show c.-51+1834_-51+1835insATATATATATATATATATATATATATAT ATATATATATAT	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190301210	T T	TATGTATA others(33): Show TATGTATATATATACATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	171	0.0058	40	c.237 others(59): Show c.237-19461_237-19460insGTATGTGTGTATATATATATATATAT GTATATATATACAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar

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