Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BMT2_chr7_112814147_112944875	112913773	CTTGGTAG others(6): Show CTTGGTAGGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG02630.hp1 others(3): Show HG01192.hp2 HG02622.hp1 HG02630.hp1 HG02896.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0035 a0001c0002t0008g0002 a0001c0002t0008g0034 others(2): Show a0001c0002t0003g0035 a0001c0002t0008g0002 a0001c0002t0008g0034 a0001c0002t0008g0036 a0001c0002t0008g0037	6	206	0.0291	-13	c.302 others(30): Show c.302+1520_302+1532delCCAGCCCTACCAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMX_chrX_15495807_15561519	15498533	TTCCTCTC others(6): Show TTCCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	216	0.0046	-13	c.-24 others(24): Show c.-2416_-2404delTCCTCTCTCTCTC	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding		2273		chrX	TogoVar
BMX_chrX_15495807_15561519	15498583	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	216	0.0046	-13	c.-23 others(24): Show c.-2366_-2354delCTCTCTCTCTCTC	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding		2223		chrX	TogoVar
BNC2_chr9_16404503_16875670	16469992	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG01433.hp2 others(33): Show HG01123.hp2 HG01243.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18950.hp1 NA18952.hp2 NA18963.hp1 NA18971.hp1 NA19060.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0011	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0001c0020 a0002c0003 a0002c0021 a0003c0008 a0003c0022 a0004c0004 a0009c0012 a0011c0019	a0001c0001t0001 a0001c0001t0011 a0001c0001t0035 others(28): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0035 a0001c0001t0036 a0001c0001t0074 a0001c0001t0075 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0088 a0001c0001t0093 a0001c0001t0097 a0001c0001t0108 a0001c0002t0027 a0001c0002t0029 a0001c0002t0067 a0001c0002t0094 a0001c0005t0087 a0001c0016t0092 a0001c0020t0107 a0002c0003t0001 a0002c0003t0069 a0002c0021t0001 a0003c0008t0100 a0003c0022t0027 a0004c0004t0059 a0004c0004t0060 a0004c0004t0061 a0009c0012t0023 a0011c0019t0076	a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0141 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0141 a0001c0001t0011g0039 a0001c0001t0035g0067 a0001c0001t0036g0147 a0001c0001t0074g0099 a0001c0001t0075g0042 a0001c0001t0079g0128 a0001c0001t0080g0069 a0001c0001t0081g0083 a0001c0001t0085g0089 a0001c0001t0088g0093 a0001c0001t0093g0109 a0001c0001t0097g0080 a0001c0001t0108g0126 a0001c0002t0027g0013 a0001c0002t0029g0057 a0001c0002t0029g0175 a0001c0002t0067g0138 a0001c0002t0094g0168 a0001c0005t0087g0157 a0001c0016t0092g0086 a0001c0020t0107g0118 a0002c0003t0001g0110 a0002c0003t0001g0130 a0002c0003t0001g0155 a0002c0003t0069g0043 a0002c0021t0001g0108 a0003c0008t0100g0072 a0003c0022t0027g0073 a0004c0004t0059g0119 a0004c0004t0060g0045 a0004c0004t0061g0137 a0009c0012t0023g0092 a0011c0019t0076g0003	36	176	0.2046	-13	c.670 others(32): Show c.670-32481_670-32469delAAAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16539641	GGGAGAGA others(6): Show GGGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	176	0.0057	-13	c.669 others(32): Show c.669+12876_669+12888delTCTCTCTCTCTCC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16614958	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	176	0.0057	-13	c.331 others(32): Show c.331-31886_331-31874delTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16793648	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(63): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03471.hp2 HG03516.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0007 a0008 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0005c0006 a0006c0018 a0007c0013 a0008c0010 a0011c0019 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0063 a0001c0001t0071 a0001c0001t0072 a0001c0001t0081 a0001c0001t0086 a0001c0001t0089 a0001c0001t0091 a0001c0001t0093 a0001c0001t0095 a0001c0001t0098 a0001c0001t0102 a0001c0001t0104 a0001c0001t0106 a0001c0002t0006 a0001c0002t0029 a0001c0002t0055 a0001c0005t0087 a0001c0007t0053 a0002c0003t0001 a0005c0006t0026 a0006c0018t0058 a0007c0013t0103 a0008c0010t0001 a0011c0019t0076 a0012c0014t0033	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0029 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0002g0112 a0001c0001t0002g0145 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0004g0005 a0001c0001t0004g0152 a0001c0001t0005g0010 a0001c0001t0005g0161 a0001c0001t0007g0065 a0001c0001t0007g0085 a0001c0001t0007g0158 a0001c0001t0009g0036 a0001c0001t0010g0111 a0001c0001t0010g0146 a0001c0001t0010g0166 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0016g0071 a0001c0001t0017g0149 a0001c0001t0018g0095 a0001c0001t0031g0129 a0001c0001t0031g0159 a0001c0001t0037g0009 a0001c0001t0040g0165 a0001c0001t0042g0059 a0001c0001t0043g0160 a0001c0001t0045g0139 a0001c0001t0046g0007 a0001c0001t0051g0096 a0001c0001t0063g0077 a0001c0001t0071g0074 a0001c0001t0072g0132 a0001c0001t0081g0083 a0001c0001t0086g0068 a0001c0001t0089g0030 a0001c0001t0091g0028 a0001c0001t0093g0109 a0001c0001t0095g0050 a0001c0001t0098g0156 a0001c0001t0102g0001 a0001c0001t0104g0087 a0001c0001t0106g0034 a0001c0002t0006g0025 a0001c0002t0029g0057 a0001c0002t0055g0100 a0001c0005t0087g0157 a0001c0007t0053g0075 a0002c0003t0001g0090 a0005c0006t0026g0047 a0005c0006t0026g0049 a0006c0018t0058g0058 a0007c0013t0103g0019 a0008c0010t0001g0124 a0011c0019t0076g0003 a0012c0014t0033g0078	66	176	0.3750	-13	c.4-5 others(28): Show c.4-55176_4-55164delAAAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148078	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	352	0.0028	-13	c.177 others(30): Show c.177+1122_177+1134delAAAAATATATATA	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP1_chr5_173139531_173169387	173148082	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02273.hp1 HG00738.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0156 a0001c0001t0001g0128 a0001c0001t0001g0156	2	352	0.0057	-13	c.177 others(30): Show c.177+1126_177+1138delATATATATATATA	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP1_chr5_173139531_173169387	173148084	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01978.hp1 HG02074.hp2 others(2): Show HG00735.hp2 HG01978.hp1 HG02074.hp2 HG02698.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0184 a0001c0001t0001g0262 a0001c0001t0001g0266	5	352	0.0142	-13	c.177 others(30): Show c.177+1127_177+1139delTATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5			chr5	TogoVar
BNIP3_chr10_131962684_131986923	131971996	CCGTCGTC others(6): Show CCGTCGTCAAAGTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0100 a0001c0001t0013g0100	1	438	0.0023	-13	c.282 others(30): Show c.282+1025_283-1027delAACTTTGACGACG	BNIP3	ENSG00000176171.12	transcript	ENST00000368636.9	protein_coding	3/5			chr10	TogoVar
BNIP5_chr6_36310761_36341888	36324571	GATATTAT others(6): Show GATATTATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02572.hp1 HG02738.hp2 others(6): Show HG02135.hp1 HG02572.hp1 HG02738.hp2 HG03669.hp2 NA18949.hp1 NA18957.hp2 NA18966.hp2 NA19063.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0201 a0002c0002t0001g0026 a0002c0002t0001g0115 others(5): Show a0001c0001t0001g0201 a0002c0002t0001g0026 a0002c0002t0001g0115 a0002c0002t0001g0146 a0002c0002t0001g0183 a0002c0002t0001g0276 a0002c0002t0001g0325 a0002c0002t0002g0102	9	424	0.0212	-13	c.116 others(30): Show c.1169-394_1169-382delATATATATAATAT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOD1_chr5_173602145_173621650	173620305	TTTTGTTG others(6): Show TTTTGTTGTTGTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	416	0.0024	-13	c.-38 others(24): Show c.-3882_-3870delCAACAACAACAAA	BOD1	ENSG00000145919.11	transcript	ENST00000311086.9	protein_coding		3656		chr5	TogoVar
BOK_chr2_241553745_241579131	241569920	CAGGTGTG others(6): Show CAGGTGTGCAGTGG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0092 a0001c0001t0013g0092	1	434	0.0023	-13	c.350 others(28): Show c.350-201_350-189delTGTGCAGTGGAGG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOLA1_chr1_149894568_149905795	149903852	GGCTTCTA others(6): Show GGCTTCTAGTCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	-13	c.33 others(24): Show c.3380_*3392delGCTTCTAGTCCCT	BOLA1	ENSG00000178096.9	transcript	ENST00000369152.6	protein_coding		3058		chr1	TogoVar
BOLA2_chr16_29448593_29459351	29458716	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	174	0.0058	-13	c.-44 others(24): Show c.-4476_-4464delAAAAAAAAAAAAA	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding		4366		chr16	TogoVar
BOLL_chr2_197721890_197790319	197784436	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19077.hp1 HG00733.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0247 a0001c0001t0001g0248	2	328	0.0061	-13	c.-16 others(28): Show c.-16+607_-16+619delATATATATATATA	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/10			chr2	TogoVar
BORA_chr13_72722923_72761196	72735748	TACAGGCA others(6): Show TACAGGCATGCGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0002c0004 a0003c0005 a0004c0009 a0005c0008 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0002c0004t0002 a0003c0005t0001 a0004c0009t0002 a0005c0008t0001 a0006c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(171): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0003g0025 a0001c0001t0003g0139 a0001c0001t0003g0156 a0001c0001t0004g0039 a0001c0001t0005g0046 a0001c0001t0005g0161 a0001c0001t0006g0035 a0001c0001t0007g0023 a0001c0001t0008g0008 a0001c0001t0009g0096 a0001c0001t0010g0022 a0001c0001t0011g0129 a0001c0002t0001g0002 a0001c0002t0001g0020 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0047 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0153 a0001c0002t0002g0100 a0001c0002t0002g0126 a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0026 a0001c0003t0001g0135 a0001c0003t0001g0144 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0007t0001g0020 a0002c0004t0002g0019 a0002c0004t0002g0067 a0002c0004t0002g0068 a0003c0005t0001g0016 a0004c0009t0002g0199 a0005c0008t0001g0001 a0006c0010t0002g0069	331	388	0.8531	-13	c.306 others(28): Show c.306+746_306+758delAGGCATGCGCCAC	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
BORA_chr13_72722923_72761196	72743345	AGTTTTAT others(6): Show AGTTTTATCCTTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01106.hp2 others(6): Show HG00099.hp2 HG00140.hp1 HG01106.hp2 HG01346.hp1 HG01433.hp1 HG04115.hp2 HG04199.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0008 a0001c0001t0001g0089 a0001c0001t0008g0008 a0001c0001t0001g0008 a0001c0001t0001g0089 a0001c0001t0008g0008	9	388	0.0232	-13	c.389 others(28): Show c.389-191_389-179delGTTTTATCCTTGT	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	5/11			chr13	TogoVar
BORCS7_chr10_102849259_102869961	102859570	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18962.hp1 NA18990.hp2 others(4): Show HG02165.hp2 NA18962.hp1 NA18990.hp2 NA18991.hp2 NA19004.hp1 NA19054.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0103 a0001c0001t0002g0105 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0117	7	454	0.0154	-13	c.142 others(28): Show c.142-761_142-749delTTTTTTTTTTTTT	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding	1/4			chr10	TogoVar
BORCS8_chr19_19171906_19197152	19177679	AGGAAGGA others(6): Show AGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	428	0.0023	-13	c.43 others(28): Show c.43-232_*43-220delCTTCCTTCCTTCC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177696	GAGAAAAG others(6): Show GAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp2 HG01515.hp1 others(4): Show HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02698.hp1 HG02698.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0209 a0001c0001t0002g0301 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0209 a0001c0001t0002g0301 a0001c0001t0002g0317	7	428	0.0164	-13	c.43 others(28): Show c.43-249_*43-237delTCTTTTCTTTTCT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134682496	AGTGTGTG others(6): Show AGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	362	0.0028	-13	c.34 others(24): Show c.3466_*3478delGTGTGTGTGTGTG	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding		2681		chr7	TogoVar
BPIFA1_chr20_33230996_33248306	33240678	GATAGATA others(6): Show GATAGATAGATAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02922.hp1 others(1): Show HG02451.hp2 HG02647.hp1 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0027 a0001c0002t0003g0103 a0001c0002t0003g0027 a0001c0002t0003g0103	4	382	0.0105	-13	c.581 others(28): Show c.581+294_581+306delATAGATAGATAAA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding	5/8			chr20	TogoVar
BPIFC_chr22_32408845_32469446	32436379	AGAGGAGG others(6): Show AGAGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	422	0.0024	-13	c.748 others(28): Show c.748-512_748-500delCCTCCTCCTCCTC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	9/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32443816	TGTAAACT others(6): Show TGTAAACTTGCCCA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 HG02622.hp1 HG02922.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0002g0396 a0004c0004t0001g0394 a0001c0001t0002g0396 a0004c0004t0001g0394	2	422	0.0047	-13	c.595 others(30): Show c.595-1098_595-1086delTGGGCAAGTTTAC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	7/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38320864	TGGATGGA others(6): Show TGGATGGATGGGTA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	426	0.0024	-13	c.756 others(28): Show c.756+593_756+605delATGGATGGGTAGG	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPTF_chr17_67820503_67989378	67858555	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01099.hp2 others(27): Show HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0003 a0001c0009 a0003c0004 others(3): Show a0001c0003 a0001c0009 a0003c0004 a0003c0029 a0003c0030 a0014c0028	a0001c0003t0002 a0001c0003t0003 a0001c0009t0003 others(4): Show a0001c0003t0002 a0001c0003t0003 a0001c0009t0003 a0003c0004t0004 a0003c0029t0010 a0003c0030t0008 a0014c0028t0009	a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0003g0084 others(27): Show a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0009t0003g0082 a0001c0009t0003g0083 a0003c0004t0004g0165 a0003c0004t0004g0166 a0003c0004t0004g0167 a0003c0004t0004g0168 a0003c0004t0004g0169 a0003c0004t0004g0170 a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0029t0010g0098 a0003c0030t0008g0097 a0014c0028t0009g0001	30	274	0.1095	-13	c.143 others(32): Show c.1436+3804_1436+3816delAAAAAAAAAAAAA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67881852	GTTTTTGT others(6): Show GTTTTTGTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01099.hp2 others(21): Show HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG02145.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0003 a0003c0004 a0003c0030 others(1): Show a0001c0003 a0003c0004 a0003c0030 a0014c0028	a0001c0003t0002 a0001c0003t0003 a0003c0004t0004 others(2): Show a0001c0003t0002 a0001c0003t0003 a0003c0004t0004 a0003c0030t0008 a0014c0028t0009	a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0003g0085 others(21): Show a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0094 a0001c0003t0003g0095 a0003c0004t0004g0165 a0003c0004t0004g0166 a0003c0004t0004g0167 a0003c0004t0004g0168 a0003c0004t0004g0169 a0003c0004t0004g0170 a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0030t0008g0097 a0014c0028t0009g0001	24	274	0.0876	-13	c.186 others(32): Show c.1864+6838_1864+6850delGTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67955277	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	274	0.0037	-13	c.792 others(32): Show c.7927-4249_7927-4237delAAAAAAAAAAAAA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAF_chr7_140714337_140929929	140732170	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02630.hp1 HG03942.hp1 others(1): Show HG01261.hp1 HG02630.hp1 HG03942.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0026 a0001c0001t0001 a0001c0002t0001 a0001c0002t0026	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0002t0001g0052 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0002t0001g0052 a0001c0002t0026g0059	4	190	0.0211	-13	c.240 others(32): Show c.2401+2434_2401+2446delTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	19/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140732170	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG02630.hp2 HG03942.hp2 others(1): Show HG01261.hp1 HG02630.hp2 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0001t0030 a0001c0002t0019 a0001c0001t0026 a0001c0001t0030 a0001c0002t0019	a0001c0001t0026g0153 a0001c0001t0030g0152 a0001c0002t0019g0054 others(1): Show a0001c0001t0026g0153 a0001c0001t0030g0152 a0001c0002t0019g0054 a0001c0002t0019g0061	4	196	0.0204	-13	c.24 others(24): Show c.2414_*2426delTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	18/18	2414		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2535322	AGGGGGAG others(6): Show AGGGGGAGGGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19087.hp1 NA19062.hp2 NA19087.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0357 a0002c0004t0001g0375 a0002c0004t0001g0357 a0002c0004t0001g0375	2	424	0.0047	-13	c.27 others(24): Show c.2734_*2746delCTCCCCCTCCCCC	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		2487		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2545363	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	424	0.0024	-13	c.283 others(28): Show c.283-320_283-308delTTTTTTTTTTTTT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	3/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552091	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0039 a0003c0005t0002g0039	1	424	0.0024	-13	c.127 others(30): Show c.127+2201_127+2213delTATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552093	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0049 a0003c0005t0002g0049	1	424	0.0024	-13	c.127 others(30): Show c.127+2199_127+2211delTATATATATATAT	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552094	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp2 HG03831.hp1 HG00280.hp2 HG01978.hp2 HG03831.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0038 a0003c0005t0002g0052 a0003c0005t0002g0053 a0003c0005t0002g0038 a0003c0005t0002g0052 a0003c0005t0002g0053	3	424	0.0071	-13	c.127 others(30): Show c.127+2198_127+2210delATATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552096	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0388 a0001c0010t0004g0388	1	424	0.0024	-13	c.127 others(30): Show c.127+2196_127+2208delAAATATATATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43104057	CAAAAAAA others(6): Show CAAAAAAAAAAAAG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	276	0.0036	-13	c.441 others(26): Show c.441+52_441+64delCTTTTTTTTTTTT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRD1_chr22_49768283_49832873	49770591	GCCCCCTG others(6): Show GCCCCCTGCCTGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(28): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp2 HG02145.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04228.hp1 HG06807.hp1 NA18989.hp2 NA19043.hp1 NA19055.hp1 NA19067.hp2 NA19086.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018 a0002c0003 a0002c0017	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0006t0001 a0001c0006t0012 a0001c0018t0001 a0002c0003t0003 a0002c0017t0003	a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0094 others(27): Show a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0180 a0001c0001t0011g0152 a0001c0002t0001g0032 a0001c0006t0001g0050 a0001c0006t0012g0241 a0001c0018t0001g0049 a0002c0003t0003g0010 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0232 a0002c0003t0003g0233 a0002c0003t0003g0235 a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0240 a0002c0017t0003g0231	31	258	0.1202	-13	c.36 others(24): Show c.3629_*3641delTTCAGGCAGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding		2691		chr22	TogoVar
BRD1_chr22_49768283_49832873	49832752	ACACACAC others(6): Show ACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	258	0.0039	-13	c.-52 others(24): Show c.-5283_-5271delGTGTGTGTGTGTG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding		4880		chr22	TogoVar
BRD3_chr9_134025305_134073026	134051876	TGTTGTTT others(6): Show TGTTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01109.hp1 others(26): Show HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01255.hp2 HG01884.hp1 HG02055.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG06807.hp2 NA19060.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0007 a0001c0002t0008 a0001c0002t0015 others(8): Show a0001c0002t0007 a0001c0002t0008 a0001c0002t0015 a0001c0002t0025 a0001c0002t0038 a0001c0002t0043 a0001c0002t0044 a0001c0002t0065 a0001c0002t0069 a0001c0002t0071 a0001c0016t0015	a0001c0002t0007g0012 a0001c0002t0007g0150 a0001c0002t0007g0186 others(23): Show a0001c0002t0007g0012 a0001c0002t0007g0150 a0001c0002t0007g0186 a0001c0002t0007g0187 a0001c0002t0007g0221 a0001c0002t0007g0260 a0001c0002t0007g0267 a0001c0002t0008g0222 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0258 a0001c0002t0008g0262 a0001c0002t0008g0263 a0001c0002t0008g0281 a0001c0002t0015g0062 a0001c0002t0015g0113 a0001c0002t0015g0185 a0001c0002t0015g0261 a0001c0002t0025g0030 a0001c0002t0038g0271 a0001c0002t0043g0065 a0001c0002t0044g0268 a0001c0002t0065g0031 a0001c0002t0069g0156 a0001c0002t0071g0060 a0001c0016t0015g0061	29	334	0.0868	-13	c.352 others(28): Show c.352-180_352-168delCAAAAAAAACAAC	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding	3/11			chr9	TogoVar
BRD3_chr9_134025305_134073026	134051877	GTTGTTTT others(6): Show GTTGTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0259 a0001c0002t0070g0259	1	334	0.0030	-13	c.352 others(28): Show c.352-181_352-169delACAAAAAAAACAA	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding	3/11			chr9	TogoVar
BRD3_chr9_134025305_134073026	134067384	TCCCCAGG others(6): Show TCCCCAGGCGCGGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00609.hp1 others(24): Show HG00140.hp1 HG00323.hp1 HG00609.hp1 HG00735.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01361.hp1 HG01516.hp1 HG01943.hp1 HG02056.hp2 HG02083.hp1 HG02155.hp2 HG02280.hp1 HG02683.hp2 HG02735.hp1 HG03669.hp2 HG04228.hp2 NA18948.hp2 NA18966.hp2 NA18980.hp1 NA19003.hp1 NA19056.hp2 NA19083.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0014 a0001c0001 a0001c0002 a0004c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0034 a0001c0001t0078 a0001c0001t0081 a0001c0001t0085 a0001c0002t0031 a0004c0014t0002	a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0037 others(21): Show a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0004g0038 a0001c0001t0004g0054 a0001c0001t0012g0046 a0001c0001t0012g0048 a0001c0001t0018g0043 a0001c0001t0034g0057 a0001c0001t0078g0053 a0001c0001t0081g0047 a0001c0001t0085g0040 a0001c0002t0031g0041 a0004c0014t0002g0036	27	334	0.0808	-13	c.-11 others(30): Show c.-114+548_-114+560delCCCGCGCCTGGGG	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding	1/11			chr9	TogoVar
BRD4_chr19_15230519_15337539	15292777	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02165.hp1 HG02523.hp1 others(5): Show HG02132.hp1 HG02165.hp1 HG02523.hp1 NA18968.hp1 NA18982.hp1 NA18984.hp1 NA18995.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0023 a0001c0001 a0001c0002 a0002c0023	a0001c0001t0036 a0001c0002t0011 a0001c0002t0016 others(2): Show a0001c0001t0036 a0001c0002t0011 a0001c0002t0016 a0001c0002t0019 a0002c0023t0016	a0001c0001t0036g0015 a0001c0002t0011g0173 a0001c0002t0011g0174 others(5): Show a0001c0001t0036g0015 a0001c0002t0011g0173 a0001c0002t0011g0174 a0001c0002t0011g0175 a0001c0002t0011g0176 a0001c0002t0016g0194 a0001c0002t0019g0116 a0002c0023t0016g0177	8	208	0.0385	-13	c.-34 others(32): Show c.-34-19657_-34-19645delTTTTTTTTTTTTT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar
BRD4_chr19_15230519_15337539	15298620	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0207 a0001c0015t0008g0207	1	208	0.0048	-13	c.-34 others(32): Show c.-34-25500_-34-25488delTTTTTTTTTTTTT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar
BRD8_chr5_138134770_138183630	138167091	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp1 HG02976.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0352 a0001c0001t0001g0353	2	378	0.0053	-13	c.788 others(28): Show c.788-377_788-365delTTTTTTTTTTTTT	BRD8	ENSG00000112983.18	transcript	ENST00000254900.10	protein_coding	9/26			chr5	TogoVar
BRD8_chr5_138134770_138183630	138172521	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	378	0.0027	-13	c.117 others(28): Show c.117-400_117-388delTTTTTTTTTTTTT	BRD8	ENSG00000112983.18	transcript	ENST00000254900.10	protein_coding	2/26			chr5	TogoVar
BRD8_chr5_138134770_138183630	138172665	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp1 NA21309.hp1 HG02976.hp2 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354	3	378	0.0079	-13	c.117 others(28): Show c.117-544_117-532delTTTTTTTTTTTTT	BRD8	ENSG00000112983.18	transcript	ENST00000254900.10	protein_coding	2/26			chr5	TogoVar
BRI3BP_chr12_124988645_125036231	125003955	AAACACAC others(6): Show AAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0092 a0001c0001t0027g0092	1	410	0.0024	-13	c.214 others(30): Show c.214-8577_214-8565delACACACACACACA	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar

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