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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
BMP8A_chr1_39486636_39534869	39527808	TATTCACG others(10): Show TATTCACGCTTCAGTTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0060 a0005c0006t0060	a0005c0006t0060g0012 a0005c0006t0060g0012	1	362	0.0028	-17	c.20 others(28): Show c.2011_*2027delATTCACGCTTCAGTTTC	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding	7/7	2011		chr1	TogoVar
BMPR1A_chr10_86751619_86932969	86790173	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00323.hp2 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0265 a0001c0002t0022g0267 a0001c0002t0022g0265 a0001c0002t0022g0267	2	278	0.0072	-17	c.-26 others(38): Show c.-268+33256_-268+33272delAAAAAAAAAAAAAAATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790183	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0078 a0002c0001t0078	a0002c0001t0078g0243 a0002c0001t0078g0243	1	278	0.0036	-17	c.-26 others(38): Show c.-268+33266_-268+33282delAAAAATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790185	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 NA18962.hp2 HG02258.hp1 HG02922.hp1 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0020 a0002c0001t0009 a0001c0003t0020 a0002c0001t0009	a0001c0003t0020g0156 a0001c0003t0020g0157 a0002c0001t0009g0045 a0001c0003t0020g0156 a0001c0003t0020g0157 a0002c0001t0009g0045	3	278	0.0108	-17	c.-26 others(38): Show c.-268+33268_-268+33284delAAATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790187	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0124 a0001c0002t0029g0124	1	278	0.0036	-17	c.-26 others(38): Show c.-268+33270_-268+33286delATATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790189	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01192.hp2 others(11): Show HG00673.hp1 HG00673.hp2 HG01192.hp2 HG01993.hp1 HG02004.hp2 HG02148.hp1 HG02602.hp1 HG02698.hp2 HG03834.hp1 NA18612.hp2 NA18965.hp2 NA18995.hp1 NA19062.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0001 a0001c0002 a0001c0005 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 others(5): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0002t0030 a0001c0005t0004 a0002c0001t0008 a0002c0001t0019 a0002c0001t0041	a0001c0002t0003g0048 a0001c0002t0003g0083 a0001c0002t0003g0086 others(11): Show a0001c0002t0003g0048 a0001c0002t0003g0083 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0120 a0001c0002t0004g0088 a0001c0002t0004g0277 a0001c0002t0017g0104 a0001c0002t0030g0144 a0001c0005t0004g0063 a0002c0001t0008g0053 a0002c0001t0019g0119 a0002c0001t0041g0058	14	278	0.0504	-17	c.-26 others(38): Show c.-268+33271_-268+33287delTATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12			chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86799494	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp2 NA19030.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0006 a0004c0007t0010 a0001c0002t0006 a0004c0007t0010	a0001c0002t0006g0193 a0004c0007t0010g0016 a0001c0002t0006g0193 a0004c0007t0010g0016	2	278	0.0072	-17	c.-26 others(38): Show c.-267-39368_-267-39352delCCTTCCTTCCTTTCTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0045 a0002c0001t0009g0045	1	278	0.0036	-17	c.-26 others(36): Show c.-267-3293_-267-3277delAAAAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906723	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0054 a0002c0001t0054	a0002c0001t0054g0227 a0002c0001t0054g0227	1	278	0.0036	-17	c.531 others(34): Show c.531-5494_531-5478delAAAAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94869094	AAACACAC others(10): Show AAACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	226	0.0044	-17	c.-18 others(36): Show c.-182-6735_-182-6719delACACACACACACACACA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94962063	TTTCTTTT others(10): Show TTTCTTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0086 a0001c0001t0044g0086	1	226	0.0044	-17	c.-11 others(38): Show c.-112-33973_-112-33957delTTTTCTTTCCTTCCTTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95049419	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp2 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0212 a0001c0001t0017g0206 a0001c0001t0014g0212 a0001c0001t0017g0206	2	226	0.0089	-17	c.-18 others(36): Show c.-18+53320_-18+53336delTTTTTTTTTTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202373158	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02451.hp1 others(9): Show HG01884.hp2 HG02109.hp2 HG02451.hp1 HG02572.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG03041.hp2 HG03139.hp2 HG03579.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 others(1): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024	a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 others(9): Show a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0011g0159 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0013g0151 a0001c0001t0024g0072	12	224	0.0536	-17	c.-43 others(28): Show c.-4316_-4300delTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		3168		chr2	TogoVar
BMPR2_chr2_202371327_202572749	202456063	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp1 others(27): Show HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG01123.hp1 HG01361.hp1 HG02080.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp1 HG02683.hp1 HG03017.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18965.hp1 NA18983.hp2 NA18987.hp1 NA18994.hp1 NA19062.hp1 NA19070.hp2 NA19085.hp2 NA19087.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0006 a0001c0001 a0001c0002 a0006c0006	a0001c0001t0006 a0001c0002t0002 a0001c0002t0012 others(2): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0012 a0001c0002t0044 a0006c0006t0002	a0001c0001t0006g0053 a0001c0001t0006g0062 a0001c0001t0006g0063 others(27): Show a0001c0001t0006g0053 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0079 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0148 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0146 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0012g0050 a0001c0002t0012g0056 a0001c0002t0044g0061 a0006c0006t0002g0075	30	224	0.1339	-17	c.77- others(32): Show c.77-8723_77-8707delAAAAAAAAAAAAAAAAA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202534917	CCCTCCCG others(10): Show CCCTCCCGGACGGGGCGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02109.hp1 others(12): Show HG01243.hp1 HG01261.hp1 HG02109.hp1 HG02451.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp2 HG03710.hp2 NA18906.hp2 NA18983.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036	a0001c0001t0001g0185 a0001c0001t0005g0015 a0001c0001t0005g0141 others(12): Show a0001c0001t0001g0185 a0001c0001t0005g0015 a0001c0001t0005g0141 a0001c0001t0005g0224 a0001c0001t0007g0097 a0001c0001t0007g0147 a0001c0001t0010g0037 a0001c0001t0010g0039 a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0011g0043 a0001c0001t0011g0083 a0001c0001t0022g0042 a0001c0001t0023g0038 a0001c0001t0036g0036	15	224	0.0670	-17	c.127 others(36): Show c.1276+2187_1276+2203delCTCCCGGACGGGGCGGC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMS1_chr10_42777795_42839937	42779045	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01361.hp1 others(20): Show HG00438.hp2 HG00639.hp1 HG01361.hp1 HG02132.hp2 HG02602.hp1 HG03239.hp2 HG03688.hp1 HG03927.hp2 NA18747.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18979.hp1 NA18999.hp2 NA19007.hp2 NA19054.hp1 NA19077.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp2	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0003 a0005c0007 a0015c0038 a0001c0003 a0005c0007 a0015c0038	a0001c0003t0001 a0001c0003t0010 a0001c0003t0020 others(3): Show a0001c0003t0001 a0001c0003t0010 a0001c0003t0020 a0001c0003t0021 a0005c0007t0001 a0015c0038t0001	a0001c0003t0001g0002 a0001c0003t0001g0011 a0001c0003t0001g0024 others(18): Show a0001c0003t0001g0002 a0001c0003t0001g0011 a0001c0003t0001g0024 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0203 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0010g0002 a0001c0003t0010g0011 a0001c0003t0020g0195 a0001c0003t0021g0212 a0005c0007t0001g0002 a0005c0007t0001g0011 a0005c0007t0001g0198 a0005c0007t0001g0199 a0005c0007t0001g0208 a0005c0007t0001g0209 a0015c0038t0001g0024	23	388	0.0593	-17	c.-38 others(28): Show c.-3818_-3802delAAAAAAAAAAAAAAAAA	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding		3749		chr10	TogoVar
BMT2_chr7_112814147_112944875	112902422	AAAAAAAC others(10): Show AAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03579.hp1 HG01891.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0056 a0001c0001t0005g0193 a0001c0001t0001g0056 a0001c0001t0005g0193	2	206	0.0097	-17	c.303 others(34): Show c.303-6700_303-6684delGTTTTTTTTTGTTTTTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BNC2_chr9_16404503_16875670	16459583	CACGGCAG others(10): Show CACGGCAGGAGAATGGGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01928.hp1 HG04184.hp2 HG01123.hp2 HG01928.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0075 a0001c0001t0080 a0002c0003t0069 a0001c0001t0075 a0001c0001t0080 a0002c0003t0069	a0001c0001t0075g0042 a0001c0001t0080g0069 a0002c0003t0069g0043 a0001c0001t0075g0042 a0001c0001t0080g0069 a0002c0003t0069g0043	3	176	0.0171	-17	c.670 others(36): Show c.670-22076_670-22060delCCCCATTCTCCTGCCGT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16506508	CTCCTCTT others(10): Show CTCCTCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00621.hp2 others(23): Show HG00558.hp1 HG00621.hp1 HG00621.hp2 HG01106.hp2 HG01243.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG02056.hp1 HG02145.hp2 HG02738.hp1 HG03098.hp1 HG03225.hp2 HG03669.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18982.hp1 NA18986.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19056.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0022 a0008c0010 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0030 a0001c0001t0046 a0001c0001t0062 a0001c0001t0072 a0001c0001t0085 a0001c0001t0090 a0001c0001t0110 a0001c0002t0027 a0002c0003t0001 a0002c0003t0070 a0003c0022t0027 a0008c0010t0001 a0009c0012t0023	a0001c0001t0001g0053 a0001c0001t0001g0125 a0001c0001t0001g0141 others(23): Show a0001c0001t0001g0053 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0002g0112 a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0003g0046 a0001c0001t0008g0015 a0001c0001t0010g0146 a0001c0001t0011g0106 a0001c0001t0016g0143 a0001c0001t0018g0095 a0001c0001t0030g0105 a0001c0001t0046g0007 a0001c0001t0062g0020 a0001c0001t0072g0132 a0001c0001t0085g0089 a0001c0001t0090g0162 a0001c0001t0110g0008 a0001c0002t0027g0013 a0002c0003t0001g0006 a0002c0003t0001g0090 a0002c0003t0070g0163 a0003c0022t0027g0073 a0008c0010t0001g0124 a0009c0012t0023g0092	26	176	0.1477	-17	c.669 others(36): Show c.669+46005_669+46021delAAAAAAAAAAAAGAGGA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16525131	GTAGATAA others(10): Show GTAGATAACATTGATAAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG01243.hp2 others(34): Show HG01074.hp1 HG01106.hp2 HG01243.hp2 HG01433.hp1 HG01884.hp2 HG02056.hp1 HG02109.hp1 HG02257.hp2 HG02559.hp2 HG02615.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG04184.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18971.hp2 NA18982.hp1 NA18986.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19030.hp2 NA19056.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0011	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0002c0003 a0003c0008 a0003c0022 a0005c0006 a0007c0013 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0062 a0001c0001t0072 a0001c0001t0090 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0110 a0001c0002t0027 a0001c0002t0067 a0001c0007t0052 a0001c0011t0082 a0002c0003t0001 a0002c0003t0070 a0003c0008t0025 a0003c0022t0027 a0005c0006t0026 a0007c0013t0103 a0011c0019t0076	a0001c0001t0001g0053 a0001c0001t0001g0141 a0001c0001t0002g0112 others(34): Show a0001c0001t0001g0053 a0001c0001t0001g0141 a0001c0001t0002g0112 a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0003g0046 a0001c0001t0003g0103 a0001c0001t0007g0065 a0001c0001t0007g0085 a0001c0001t0007g0158 a0001c0001t0008g0015 a0001c0001t0010g0146 a0001c0001t0011g0106 a0001c0001t0014g0041 a0001c0001t0018g0095 a0001c0001t0025g0027 a0001c0001t0034g0115 a0001c0001t0035g0067 a0001c0001t0040g0165 a0001c0001t0062g0020 a0001c0001t0072g0132 a0001c0001t0090g0162 a0001c0001t0104g0087 a0001c0001t0105g0061 a0001c0001t0106g0034 a0001c0001t0110g0008 a0001c0002t0027g0013 a0001c0002t0067g0138 a0001c0007t0052g0176 a0001c0011t0082g0035 a0002c0003t0001g0090 a0002c0003t0070g0163 a0003c0008t0025g0066 a0003c0022t0027g0073 a0005c0006t0026g0047 a0007c0013t0103g0019 a0011c0019t0076g0003	37	176	0.2102	-17	c.669 others(36): Show c.669+27382_669+27398delGTTATCAATGTTATCTA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16614958	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01361.hp2 HG01496.hp1 others(9): Show HG01123.hp1 HG01361.hp2 HG01496.hp1 HG02109.hp2 HG02698.hp1 HG02738.hp1 HG02895.hp1 HG03669.hp1 NA18952.hp1 NA18968.hp2 NA18991.hp2 NA21309.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0018 a0008c0010 a0001c0001 a0006c0018 a0008c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0019 a0001c0001t0039 a0001c0001t0064 a0001c0001t0079 a0001c0001t0081 a0001c0001t0083 a0001c0001t0109 a0006c0018t0058 a0008c0010t0001	a0001c0001t0001g0141 a0001c0001t0007g0158 a0001c0001t0015g0052 others(9): Show a0001c0001t0001g0141 a0001c0001t0007g0158 a0001c0001t0015g0052 a0001c0001t0019g0017 a0001c0001t0039g0026 a0001c0001t0064g0012 a0001c0001t0079g0128 a0001c0001t0081g0083 a0001c0001t0083g0004 a0001c0001t0109g0023 a0006c0018t0058g0058 a0008c0010t0001g0124	12	176	0.0682	-17	c.331 others(36): Show c.331-31890_331-31874delTTTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16708252	TTACTGTG others(10): Show TTACTGTGTTAAATGGCA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0004 a0001c0001t0083g0004	1	176	0.0057	-17	c.330 others(36): Show c.330+19528_330+19544delTGCCATTTAACACAGTA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16780240	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02257.hp1 others(4): Show HG01192.hp1 HG02055.hp1 HG02257.hp1 HG02559.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 others(2): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028	a0001c0001t0013g0140 a0001c0001t0013g0144 a0001c0001t0014g0032 others(4): Show a0001c0001t0013g0140 a0001c0001t0013g0144 a0001c0001t0014g0032 a0001c0001t0020g0079 a0001c0001t0020g0081 a0001c0001t0024g0133 a0001c0001t0028g0033	7	176	0.0398	-17	c.4-4 others(32): Show c.4-41772_4-41756delGTTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148082	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp2 HG02080.hp1 others(2): Show HG00733.hp1 HG01192.hp2 HG02080.hp1 HG03834.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133	5	352	0.0142	-17	c.177 others(34): Show c.177+1126_177+1142delATATATATATATATATA	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP1_chr5_173139531_173169387	173148084	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(24): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG01258.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02027.hp1 HG02129.hp2 HG02257.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02895.hp1 HG03239.hp1 HG03453.hp1 HG03831.hp1 HG04228.hp2 NA18747.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0198 a0001c0001t0001g0263	27	352	0.0767	-17	c.177 others(34): Show c.177+1127_177+1143delTATATATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5			chr5	TogoVar
BNIP3_chr10_131962684_131986923	131969757	AGAGGCTG others(10): Show AGAGGCTGGGACCAGCCC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	438	0.0023	-17	c.539 others(32): Show c.539+864_539+880delGGGCTGGTCCCAGCCTC	BNIP3	ENSG00000176171.12	transcript	ENST00000368636.9	protein_coding	5/5			chr10	TogoVar
BOD1_chr5_173602145_173621650	173614476	TCAGTTCA others(10): Show TCAGTTCAAAGTAAATTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	416	0.0024	-17	c.238 others(34): Show c.238-1238_238-1222delTAATTTACTTTGAACTG	BOD1	ENSG00000145919.11	transcript	ENST00000311086.9	protein_coding	1/3			chr5	TogoVar
BOP1_chr8_144257045_144296438	144276525	GCTGGACT others(10): Show GCTGGACTGCAGCCTCCC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	398	0.0025	-17	c.310 others(32): Show c.310-238_310-222delGGGAGGCTGCAGTCCAG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BORCS8_chr19_19171906_19197152	19177675	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	428	0.0023	-17	c.43 others(32): Show c.43-232_*43-216delCTTCCTTCCTTCCTTCC	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177685	GAAGGAAG others(10): Show GAAGGAAGGAAGAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG03098.hp2 HG02486.hp2 HG02572.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0329 a0001c0001t0001g0330 a0002c0002t0001g0235 a0001c0001t0001g0329 a0001c0001t0001g0330 a0002c0002t0001g0235	3	428	0.0070	-17	c.43 others(32): Show c.43-242_*43-226delTTTTCTCTTCCTTCCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177693	GAAGAGAA others(10): Show GAAGAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03669.hp1 HG03704.hp2 HG03239.hp1 HG03669.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0273	3	428	0.0070	-17	c.43 others(32): Show c.43-250_*43-234delTTCTTTTCTTTTCTCTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPGM_chr7_134641853_134684816	134682496	AGTGTGTG others(10): Show AGTGTGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(41): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03492.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18964.hp2 NA18972.hp2 NA18982.hp2 NA19043.hp2 NA19074.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0112 a0001c0001t0001g0149 a0001c0001t0001g0150 a0004c0006t0001g0054	44	362	0.1216	-17	c.34 others(28): Show c.3466_*3482delGTGTGTGTGTGTGTGTG	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding		2681		chr7	TogoVar
BPHL_chr6_3113711_3158578	3145218	GGGTCCGA others(10): Show GGGTCCGAGTGCTGGTTC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp2 others(16): Show HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0005 a0001c0001t0012 a0001c0004t0006 others(1): Show a0001c0001t0005 a0001c0001t0012 a0001c0004t0006 a0001c0005t0005	a0001c0001t0005g0047 a0001c0001t0005g0261 a0001c0001t0005g0262 others(12): Show a0001c0001t0005g0047 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0012g0056 a0001c0004t0006g0016 a0001c0004t0006g0041 a0001c0004t0006g0244 a0001c0004t0006g0246 a0001c0005t0005g0019 a0001c0005t0005g0046 a0001c0005t0005g0048 a0001c0005t0005g0226	19	350	0.0543	-17	c.788 others(34): Show c.788+4712_788+4728delTCCGAGTGCTGGTTCGG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3145223	CGAGTGCT others(10): Show CGAGTGCTGGTTCGGGTG	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	350	0.0029	-17	c.788 others(34): Show c.788+4730_788+4746delTGGAGTGCTGGTTCGGG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPIFA3_chr20_33212352_33232806	33225003	ACGGTGGA others(10): Show ACGGTGGACAGTGCCCGT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	416	0.0024	-17	c.387 others(30): Show c.387-93_387-77delGGTGGACAGTGCCCGTC	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424602	TCCTCCTC others(10): Show TCCTCCTCCTCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp1 others(11): Show HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01884.hp2 HG02074.hp1 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18960.hp2 NA18964.hp1 NA19001.hp1 NA19007.hp1 NA19011.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0008 a0001c0001 a0004c0004 a0007c0008	a0001c0001t0001 a0004c0004t0001 a0007c0008t0001 a0001c0001t0001 a0004c0004t0001 a0007c0008t0001	a0001c0001t0001g0078 a0001c0001t0001g0153 a0001c0001t0001g0168 others(11): Show a0001c0001t0001g0078 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0207 a0001c0001t0001g0293 a0001c0001t0001g0313 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0344 a0004c0004t0001g0066 a0004c0004t0001g0104 a0004c0004t0001g0349 a0007c0008t0001g0007	14	422	0.0332	-17	c.121 others(36): Show c.1218-5215_1218-5199delGGAGGAGGAGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPTF_chr17_67820503_67989378	67839156	ATTGCATT others(10): Show ATTGCATTGTGTACCACC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	274	0.0037	-17	c.613 others(36): Show c.613+12821_613+12837delTGCATTGTGTACCACCT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67886458	ATTTAGAT others(10): Show ATTTAGATGTTCTTTTCC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	274	0.0037	-17	c.186 others(36): Show c.1865-5381_1865-5365delGATGTTCTTTTCCTTTA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67953961	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	274	0.0037	-17	c.792 others(36): Show c.7927-5555_7927-5539delTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRD4_chr19_15230519_15337539	15292777	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp2 others(89): Show HG00140.hp1 HG00140.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18948.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18982.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0014	a0001c0001 a0001c0017 a0001c0035 others(10): Show a0001c0001 a0001c0017 a0001c0035 a0002c0003 a0003c0006 a0004c0005 a0005c0014 a0005c0019 a0006c0009 a0007c0036 a0010c0029 a0011c0027 a0014c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0074 a0001c0001t0076 a0001c0017t0004 a0001c0035t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0017 a0002c0003t0038 a0003c0006t0001 a0003c0006t0005 a0004c0005t0001 a0004c0005t0009 a0004c0005t0017 a0004c0005t0045 a0005c0014t0002 a0005c0019t0001 a0006c0009t0023 a0007c0036t0053 a0010c0029t0010 a0011c0027t0005 a0014c0028t0007	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 others(89): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0004g0047 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0075 a0001c0001t0004g0077 a0001c0001t0004g0082 a0001c0001t0004g0097 a0001c0001t0004g0127 a0001c0001t0005g0059 a0001c0001t0005g0080 a0001c0001t0005g0098 a0001c0001t0005g0126 a0001c0001t0007g0199 a0001c0001t0009g0014 a0001c0001t0009g0022 a0001c0001t0010g0045 a0001c0001t0010g0094 a0001c0001t0010g0100 a0001c0001t0010g0120 a0001c0001t0012g0169 a0001c0001t0021g0050 a0001c0001t0022g0027 a0001c0001t0022g0083 a0001c0001t0030g0004 a0001c0001t0031g0007 a0001c0001t0032g0005 a0001c0001t0035g0021 a0001c0001t0037g0012 a0001c0001t0039g0018 a0001c0001t0040g0020 a0001c0001t0041g0017 a0001c0001t0047g0078 a0001c0001t0050g0061 a0001c0001t0052g0042 a0001c0001t0055g0110 a0001c0001t0056g0073 a0001c0001t0057g0070 a0001c0001t0063g0060 a0001c0001t0064g0130 a0001c0001t0068g0139 a0001c0001t0074g0170 a0001c0001t0076g0208 a0001c0017t0004g0081 a0001c0035t0001g0069 a0002c0003t0001g0048 a0002c0003t0002g0090 a0002c0003t0005g0064 a0002c0003t0017g0016 a0002c0003t0038g0013 a0003c0006t0001g0091 a0003c0006t0005g0031 a0003c0006t0005g0099 a0003c0006t0005g0117 a0004c0005t0001g0053 a0004c0005t0009g0009 a0004c0005t0009g0011 a0004c0005t0017g0025 a0004c0005t0045g0122 a0005c0014t0002g0106 a0005c0019t0001g0076 a0006c0009t0023g0087 a0006c0009t0023g0088 a0007c0036t0053g0103 a0010c0029t0010g0074 a0011c0027t0005g0056 a0014c0028t0007g0151	92	208	0.4423	-17	c.-34 others(36): Show c.-34-19661_-34-19645delTTTTTTTTTTTTTTTTT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19			chr19	TogoVar
BRI3BP_chr12_124988645_125036231	125019643	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTGCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18949.hp2 NA18989.hp1 others(1): Show HG01168.hp2 NA18949.hp2 NA18989.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0097 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0097 a0002c0002t0008	a0001c0001t0001g0137 a0001c0001t0002g0134 a0001c0001t0097g0341 others(1): Show a0001c0001t0001g0137 a0001c0001t0002g0134 a0001c0001t0097g0341 a0002c0002t0008g0325	4	410	0.0098	-17	c.317 others(34): Show c.317-5341_317-5325delTTTTTTTTGCCTTTTTT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280244	AAAGATAT others(10): Show AAAGATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03516.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0003g0013 a0001c0001t0001g0020 a0001c0001t0003g0013	5	414	0.0121	-17	c.-15 others(28): Show c.-1551_-1535delAAGATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1441		chr7	TogoVar
BRICD5_chr16_2204253_2215863	2214777	TCGCCGCC others(10): Show TCGCCGCCCGCCGGCCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0016 a0002c0007t0001g0016	1	434	0.0023	-17	c.-39 others(28): Show c.-3961_-3945delGCGGCCGGCGGGCGGCG	BRICD5	ENSG00000182685.8	transcript	ENST00000328540.8	protein_coding		3915		chr16	TogoVar
BRINP1_chr9_119161629_119374435	119232908	GCCATTAG others(10): Show GCCATTAGTGTTATTACC	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	236	0.0042	-17	c.685 others(34): Show c.685+5730_685+5746delGGTAATAACACTAATGG	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	5/7			chr9	TogoVar
BRINP3_chr1_190092658_190482864	190453203	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG03130.hp2 others(1): Show HG02109.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131	4	240	0.0167	-17	c.236 others(34): Show c.236+1435_236+1451delAAAAAAAAAAAAAAAAA	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61728719	AGGATGAT others(10): Show AGGATGATAGCAGTTATT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0084 a0001c0001t0034g0084	1	266	0.0038	-17	c.238 others(38): Show c.2380-12673_2380-12657delAATAACTGCTATCATCC	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	16/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765372	GTATATAT others(10): Show GTATATATTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0153	1	266	0.0038	-17	c.209 others(38): Show c.2097+11012_2097+11028delTATATATATAATATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61765402	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0068 a0001c0001t0025g0068	1	266	0.0038	-17	c.209 others(38): Show c.2097+10982_2097+10998delTATATATATATATATAT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRIP1_chr17_61674139_61868528	61820332	AAATCATA others(10): Show AAATCATACCTGCTTCAC	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0212 a0002c0002t0003g0212	1	266	0.0038	-17	c.628 others(36): Show c.628-11592_628-11576delGTGAAGCAGGTATGATT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	6/19			chr17	TogoVar
BRSK1_chr19_55278997_55317562	55286320	GCTTTGGG others(10): Show GCTTTGGGGGCTCAGGTC	G G	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0027 a0006c0006t0027	a0006c0006t0027g0151 a0006c0006t0027g0151	1	338	0.0030	-17	c.137 others(32): Show c.137-684_137-668delTTGGGGGCTCAGGTCCT	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results (Total: 9132 hits)