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
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG03041.hp1 others(4): Show HG00323.hp2 HG00733.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 NA18940.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0113 others(4): Show a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0145 a0001c0001t0008g0128 a0001c0001t0008g0129	7	270	0.0259	-23	c.184 others(42): Show c.1840-6866_1840-6844delTTTTTTTTTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BID_chr22_17729138_17779469	17765138	TCAAGACA others(16): Show TCAAGACATCCTCCACAGAGGACC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01071.hp2 others(22): Show HG00323.hp1 HG00621.hp1 HG01071.hp2 HG01934.hp1 HG02055.hp2 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02451.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp1 HG03486.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG04199.hp2 HG04204.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA19056.hp1 NA19080.hp2 NA19084.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0097 a0001c0001t0001g0123 others(22): Show a0001c0001t0001g0019 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0304 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0003g0329 a0001c0003t0004g0149 a0001c0003t0004g0150 a0001c0003t0004g0151 a0001c0003t0004g0154 a0002c0002t0001g0146 a0002c0002t0002g0258 a0002c0002t0002g0259	25	362	0.0691	-23	c.-59 others(40): Show c.-59+9220_-59+9242delGGTCCTCTGTGGAGGATGTCTTG	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIN1_chr2_127043032_127112154	127097317	TCCCTCCA others(16): Show TCCCTCCAGGCCCAGGAGCGTCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA20752.hp1 HG00280.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0219 a0001c0004t0001g0220 a0001c0001t0001g0219 a0001c0004t0001g0220	2	344	0.0058	-23	c.84+ others(38): Show c.84+9520_84+9542delGTGACGCTCCTGGGCCTGGAGGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN1_chr2_127043032_127112154	127097341	CCCTCCAG others(16): Show CCCTCCAGGCCCAGCAGCGTCACT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	344	0.0029	-23	c.84+ others(38): Show c.84+9496_84+9518delAGTGACGCTGCTGGGCCTGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN2_chr12_51276038_51329174	51295576	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	400	0.0025	-23	c.761 others(38): Show c.761+197_761+219delATATATATATATATATATATATT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp2 NA20805.hp2 HG00639.hp1 HG01978.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0001g0266 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0001g0266	3	400	0.0075	-23	c.761 others(38): Show c.761+195_761+217delATATATATATATATATATATATA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIRC6_chr2_32352023_32623878	32369940	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0185 a0001c0007t0006g0185	1	274	0.0037	-23	c.326 others(40): Show c.326-7646_326-7624delAAAAATATATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461159	TCTCCCCT others(16): Show TCTCCCCTCCCCTCTCCCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0185 a0001c0007t0006g0185	1	274	0.0037	-23	c.475 others(42): Show c.4754-2034_4754-2012delCTCCCCTCCCCTCTCCCCTCCCC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73			chr2	TogoVar
BLTP3B_chr12_100032072_100147874	100085861	TTAGCTTC others(16): Show TTAGCTTCATACTCTTTTCATTCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02809.hp1 HG03098.hp1 others(2): Show HG00741.hp2 HG02809.hp1 HG03098.hp1 HG03195.hp2 NA20805.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 others(2): Show a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 a0005c0006t0001g0181 a0005c0006t0001g0182	5	188	0.0266	-23	c.110 others(40): Show c.1105+391_1105+413delGGAATGAAAAGAGTATGAAGCTA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	9/20			chr12	TogoVar
BMP5_chr6_55748653_55880590	55759161	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	320	0.0031	-23	c.110 others(38): Show c.1105-69_1105-47delGTTTTTTTTTTTTTTTTTTTTTT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	5/6			chr6	TogoVar
BMP6_chr6_7721099_7886728	7738593	TGTTCCAG others(16): Show TGTTCCAGGTTGGACCCTCATTGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	308	0.0033	-23	c.664 others(42): Show c.664+10975_664+10997delGTTCCAGGTTGGACCCTCATTGC	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6			chr6	TogoVar
BMPER_chr7_33900539_34161427	34133379	GGGGTTCT others(16): Show GGGGTTCTGGAAGGTGGTGTGCCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG01891.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0094 a0001c0003t0003g0103 a0001c0001t0003g0094 a0001c0003t0003g0103	2	232	0.0086	-23	c.174 others(42): Show c.1746-9825_1746-9803delGTTCTGGAAGGTGGTGTGCCTGG	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86790177	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0079 a0001c0006t0079	a0001c0006t0079g0161 a0001c0006t0079g0161	1	278	0.0036	-23	c.-26 others(44): Show c.-268+33260_-268+33282delAAAAAAAAAAATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790179	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG01109.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0129 a0001c0002t0006g0130 a0001c0002t0006g0129 a0001c0002t0006g0130	2	278	0.0072	-23	c.-26 others(44): Show c.-268+33262_-268+33284delAAAAAAAAATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790181	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG03579.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0125 a0001c0002t0006g0126 a0001c0002t0006g0132 a0001c0002t0006g0125 a0001c0002t0006g0126 a0001c0002t0006g0132	3	278	0.0108	-23	c.-26 others(44): Show c.-268+33264_-268+33286delAAAAAAATATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790183	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02559.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0131 a0001c0002t0035g0134 a0001c0002t0035g0131 a0001c0002t0035g0134	2	278	0.0072	-23	c.-26 others(44): Show c.-268+33266_-268+33288delAAAAATATATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0071 a0002c0001t0071	a0002c0001t0071g0171 a0002c0001t0071g0171	1	278	0.0036	-23	c.-26 others(42): Show c.-267-3299_-267-3277delAAAAAAAAAAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	95049419	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01099.hp2 others(16): Show HG00280.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG02738.hp1 HG03017.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp2 NA18951.hp1 NA18988.hp1 NA19070.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0022 a0001c0001t0048 a0001c0001t0053 a0001c0001t0061 a0004c0005t0034	a0001c0001t0001g0163 a0001c0001t0002g0068 a0001c0001t0002g0161 others(16): Show a0001c0001t0001g0163 a0001c0001t0002g0068 a0001c0001t0002g0161 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0047 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0003g0195 a0001c0001t0004g0091 a0001c0001t0006g0105 a0001c0001t0018g0055 a0001c0001t0022g0052 a0001c0001t0048g0103 a0001c0001t0053g0137 a0001c0001t0061g0100 a0004c0005t0034g0140	19	226	0.0841	-23	c.-18 others(42): Show c.-18+53314_-18+53336delTTTTTTTTTTTTTTTTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMT2_chr7_112814147_112944875	112902426	AAACAAAA others(16): Show AAACAAAAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG03516.hp1 HG02622.hp1 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0035 a0001c0002t0008g0002 a0001c0002t0003g0035 a0001c0002t0008g0002	3	206	0.0146	-23	c.303 others(40): Show c.303-6710_303-6688delGTTTTTTTTTGTTTTTTTTTGTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMX_chrX_15495807_15561519	15498573	TCTCCCTC others(16): Show TCTCCCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	216	0.0046	-23	c.-23 others(34): Show c.-2376_-2354delCTCCCTCTCTCTCTCTCTCTCTC	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding		2233		chrX	TogoVar
BNC2_chr9_16404503_16875670	16614958	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03209.hp2 HG03225.hp1 others(5): Show HG01106.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG04184.hp1 NA18963.hp1 NA18991.hp1 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0007 a0001c0011 others(1): Show a0001c0001 a0001c0007 a0001c0011 a0011c0019	a0001c0001t0001 a0001c0001t0018 a0001c0001t0034 others(5): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0034 a0001c0001t0074 a0001c0001t0093 a0001c0007t0052 a0001c0011t0082 a0011c0019t0076	a0001c0001t0001g0048 a0001c0001t0018g0095 a0001c0001t0034g0115 others(5): Show a0001c0001t0001g0048 a0001c0001t0018g0095 a0001c0001t0034g0115 a0001c0001t0074g0099 a0001c0001t0093g0109 a0001c0007t0052g0176 a0001c0011t0082g0035 a0011c0019t0076g0003	8	176	0.0455	-23	c.331 others(42): Show c.331-31896_331-31874delTTTTTTTTTTTTTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16665443	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02735.hp2 HG01192.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0088 a0001c0001t0051 a0001c0001t0088	a0001c0001t0051g0096 a0001c0001t0088g0093 a0001c0001t0051g0096 a0001c0001t0088g0093	2	176	0.0114	-23	c.330 others(42): Show c.330+62331_330+62353delCTTTCTTTCTTTCTTTCTTTCTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148084	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	352	0.0028	-23	c.177 others(40): Show c.177+1127_177+1149delTATATATATATATATATATATAT	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5			chr5	TogoVar
BNIP5_chr6_36310761_36341888	36324571	GATATTAT others(16): Show GATATTATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19091.hp2 HG01175.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0186 a0002c0002t0002g0049 a0002c0002t0001g0186 a0002c0002t0002g0049	2	424	0.0047	-23	c.116 others(40): Show c.1169-404_1169-382delATATATATATATATATATAATAT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOK_chr2_241553745_241579131	241568956	AGGGACCA others(16): Show AGGGACCACTGCTGACTCCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03579.hp2 NA19240.hp1 HG02896.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0012g0185 a0001c0001t0012g0186 a0001c0002t0001g0066 a0001c0001t0012g0185 a0001c0001t0012g0186 a0001c0002t0001g0066	3	434	0.0069	-23	c.350 others(40): Show c.350-1162_350-1140delACTGCTGACTCCCTCCGGGGACC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241568969	GACTCCCT others(16): Show GACTCCCTCCGGGGACCGCTGCTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0159 a0001c0001t0016g0159	1	434	0.0023	-23	c.350 others(40): Show c.350-1148_350-1126delCCGGGGACCGCTGCTAACTCCCT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241576065	CCTCCTCC others(16): Show CCTCCTCCTCCTCCCCTGCCAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02896.hp2 HG02965.hp1 others(4): Show HG02055.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG06807.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0012 a0001c0001t0048 a0001c0002t0012 others(1): Show a0001c0001t0012 a0001c0001t0048 a0001c0002t0012 a0001c0007t0045	a0001c0001t0012g0167 a0001c0001t0012g0185 a0001c0001t0012g0186 others(4): Show a0001c0001t0012g0167 a0001c0001t0012g0185 a0001c0001t0012g0186 a0001c0001t0012g0194 a0001c0001t0048g0091 a0001c0002t0012g0179 a0001c0007t0045g0109	7	434	0.0161	-23	c.36 others(34): Show c.3644_*3666delCTCCTCCTCCTCCCCTGCCAGCT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		1935		chr2	TogoVar
BPIFC_chr22_32408845_32469446	32424602	TCCTCCTC others(16): Show TCCTCCTCCTCCTCCTCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01069.hp1 others(29): Show HG00408.hp1 HG00408.hp2 HG01069.hp1 HG01167.hp2 HG01169.hp2 HG01346.hp2 HG02015.hp2 HG02080.hp2 HG02129.hp2 HG03654.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18964.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp2 NA19000.hp2 NA19068.hp1 NA19079.hp2 NA19088.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0057 others(29): Show a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0374 a0001c0001t0001g0380 a0001c0001t0001g0406 a0001c0001t0001g0414 a0002c0002t0001g0276 a0004c0004t0001g0038 a0004c0004t0001g0063 a0004c0004t0001g0222 a0004c0004t0001g0375	32	422	0.0758	-23	c.121 others(42): Show c.1218-5221_1218-5199delGGAGGAGGAGGAGGAGGAGGAGG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPTF_chr17_67820503_67989378	67953961	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(95): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01109.hp2 HG01169.hp1 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0006 a0007 a0009 a0012 a0015	a0002c0002 a0002c0006 a0002c0014 others(9): Show a0002c0002 a0002c0006 a0002c0014 a0002c0027 a0004c0007 a0004c0026 a0005c0008 a0006c0010 a0007c0011 a0009c0022 a0012c0018 a0015c0012	a0002c0002t0002 a0002c0002t0007 a0002c0006t0002 others(10): Show a0002c0002t0002 a0002c0002t0007 a0002c0006t0002 a0002c0014t0002 a0002c0027t0002 a0004c0007t0002 a0004c0026t0002 a0005c0008t0002 a0006c0010t0002 a0007c0011t0002 a0009c0022t0002 a0012c0018t0002 a0015c0012t0002	a0002c0002t0002g0014 a0002c0002t0002g0181 a0002c0002t0002g0182 others(95): Show a0002c0002t0002g0014 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0007g0249 a0002c0006t0002g0004 a0002c0006t0002g0005 a0002c0006t0002g0008 a0002c0006t0002g0009 a0002c0006t0002g0010 a0002c0006t0002g0011 a0002c0006t0002g0012 a0002c0014t0002g0006 a0002c0027t0002g0198 a0004c0007t0002g0069 a0004c0007t0002g0073 a0004c0007t0002g0074 a0004c0007t0002g0075 a0004c0007t0002g0259 a0004c0026t0002g0072 a0005c0008t0002g0002 a0005c0008t0002g0101 a0005c0008t0002g0102 a0006c0010t0002g0013 a0006c0010t0002g0107 a0007c0011t0002g0180 a0009c0022t0002g0189 a0012c0018t0002g0208 a0015c0012t0002g0238	98	274	0.3577	-23	c.792 others(42): Show c.7927-5561_7927-5539delTTTTTTTTTTTTTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAF_chr7_140714337_140929929	140732170	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 NA18906.hp2 HG02280.hp2 HG02572.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0016g0151 a0001c0001t0009g0115 a0001c0001t0009g0150 a0001c0001t0016g0151	3	190	0.0158	-23	c.240 others(42): Show c.2401+2424_2401+2446delTTTTTTTTTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	19/19			chr7	TogoVar
BRAF_chr7_140725665_140929929	140732170	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02572.hp2 NA18906.hp2 HG02280.hp1 HG02572.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032	a0001c0001t0021g0155 a0001c0001t0031g0156 a0001c0001t0032g0119 a0001c0001t0021g0155 a0001c0001t0031g0156 a0001c0001t0032g0119	3	196	0.0153	-23	c.24 others(34): Show c.2404_*2426delTTTTTTTTTTTTTTTTTTTTTTT	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	18/18	2404		chr7	TogoVar
BRD1_chr22_49768283_49832873	49796822	CGGACCCC others(16): Show CGGACCCCACGATGGCGGGAACGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00642.hp2 others(9): Show HG00099.hp2 HG00140.hp1 HG00642.hp2 HG00673.hp2 HG01074.hp1 HG02135.hp2 HG03654.hp1 NA18966.hp1 NA18995.hp1 NA19085.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0011 a0001c0001 a0002c0003 a0007c0011	a0001c0001t0001 a0001c0001t0005 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0003t0003 a0007c0011t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 others(8): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0005g0008 a0001c0001t0005g0150 a0001c0001t0005g0151 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0007c0011t0001g0181	12	258	0.0465	-23	c.209 others(40): Show c.2098+960_2098+982delACGTTCCCGCCATCGTGGGGTCC	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	6/12			chr22	TogoVar
BRD4_chr19_15230519_15337539	15271909	TACACACC others(16): Show TACACACCAGTGGCTCTGGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp1 HG03471.hp1 others(1): Show HG02109.hp2 HG02976.hp1 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0030 a0001c0008 a0001c0030	a0001c0008t0020 a0001c0008t0070 a0001c0030t0034 a0001c0008t0020 a0001c0008t0070 a0001c0030t0034	a0001c0008t0020g0123 a0001c0008t0020g0124 a0001c0008t0070g0198 others(1): Show a0001c0008t0020g0123 a0001c0008t0020g0124 a0001c0008t0070g0198 a0001c0030t0034g0024	4	208	0.0192	-23	c.285 others(38): Show c.285+883_285+905delGCACACCAGAGCCACTGGTGTGT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	2/19			chr19	TogoVar
BRD7_chr16_50310957_50373988	50332227	GAACTACG others(16): Show GAACTACGCATCCAATAAAGGACT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(96): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02559.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp2 HG03540.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19057.hp1 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19091.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0009	a0001c0001 a0001c0002 a0005c0006 others(2): Show a0001c0001 a0001c0002 a0005c0006 a0006c0011 a0009c0010	a0001c0001t0003 a0001c0002t0002 a0001c0002t0014 others(9): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0002t0019 a0001c0002t0036 a0001c0002t0037 a0001c0002t0039 a0001c0002t0040 a0005c0006t0002 a0006c0011t0038 a0009c0010t0002	a0001c0001t0003g0158 a0001c0002t0002g0007 a0001c0002t0002g0022 others(89): Show a0001c0001t0003g0158 a0001c0002t0002g0007 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0292 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0345 a0001c0002t0002g0346 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0353 a0001c0002t0002g0354 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0002g0358 a0001c0002t0002g0359 a0001c0002t0002g0360 a0001c0002t0002g0361 a0001c0002t0014g0256 a0001c0002t0014g0257 a0001c0002t0014g0258 a0001c0002t0018g0293 a0001c0002t0018g0306 a0001c0002t0018g0313 a0001c0002t0019g0279 a0001c0002t0019g0291 a0001c0002t0019g0349 a0001c0002t0036g0310 a0001c0002t0037g0290 a0001c0002t0039g0289 a0001c0002t0040g0315 a0005c0006t0002g0335 a0006c0011t0038g0288 a0009c0010t0002g0324	99	402	0.2463	-23	c.101 others(42): Show c.1011+1324_1011+1346delAGTCCTTTATTGGATGCGTAGTT	BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding	8/16			chr16	TogoVar
BRD7_chr16_50310957_50373988	50357036	GATTTTGC others(16): Show GATTTTGCAAGAAACAAAAATTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	402	0.0025	-23	c.259 others(40): Show c.259-2137_259-2115delAAAATTTTTGTTTCTTGCAAAAT	BRD7	ENSG00000166164.17	transcript	ENST00000394688.8	protein_coding	2/16			chr16	TogoVar
BRDT_chr1_91944401_92019421	91962144	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(80): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02155.hp1 HG02257.hp1 HG02572.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18960.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19059.hp2 NA19080.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0011	a0001c0001 a0006c0022 a0008c0010 others(1): Show a0001c0001 a0006c0022 a0008c0010 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0006c0022t0001 a0008c0010t0001 a0011c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0002g0203 a0001c0001t0007g0248 a0006c0022t0001g0141 a0008c0010t0001g0001 a0011c0012t0002g0251	83	318	0.2610	-23	c.-37 others(38): Show c.-37-548_-37-526delAAAAAAAAAAAAAAAAAAAAAAA	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
BRINP3_chr1_190092658_190482864	190405470	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00621.hp1 others(31): Show HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02572.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp1 NA18957.hp1 NA18961.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18981.hp1 NA18988.hp2 NA19004.hp1 NA19009.hp1 NA19077.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0003c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 others(31): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0002g0227 a0001c0001t0004g0001 a0001c0001t0010g0240 a0003c0003t0001g0177	34	240	0.1417	-23	c.236 others(42): Show c.236+49162_236+49184delGTTTTTTTTTTTTTTTTTTTTTT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	2/7			chr1	TogoVar
BRIP1_chr17_61674139_61868528	61765400	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0170 a0002c0002t0058g0170	1	266	0.0038	-23	c.209 others(44): Show c.2097+10978_2097+11000delTATATATATATATATATATATAT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	14/19			chr17	TogoVar
BRWD1_chr21_39180482_39318632	39217073	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0026 a0004c0003t0026	a0004c0003t0026g0001 a0004c0003t0026g0001	1	338	0.0030	-23	c.365 others(42): Show c.3659+1056_3659+1078delAAAAAAAAAAAAATATATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39241473	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	338	0.0030	-23	c.248 others(42): Show c.2482-2923_2482-2901delTTTTTTTTTTTTTTTTTTTTTTT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	21/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39267198	TAATCAAA others(16): Show TAATCAAAGGTCTAAGAACCTGAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG03139.hp2 others(3): Show HG02145.hp1 HG02486.hp1 HG03139.hp2 HG03225.hp1 HG06807.hp1 NA20300.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0006c0009 a0006c0013 a0003c0005 a0006c0009 a0006c0013	a0003c0005t0007 a0006c0009t0012 a0006c0013t0012 a0003c0005t0007 a0006c0009t0012 a0006c0013t0012	a0003c0005t0007g0105 a0003c0005t0007g0106 a0006c0009t0012g0083 others(3): Show a0003c0005t0007g0105 a0003c0005t0007g0106 a0006c0009t0012g0083 a0006c0009t0012g0084 a0006c0009t0012g0086 a0006c0013t0012g0085	6	338	0.0178	-23	c.153 others(42): Show c.1531-2202_1531-2180delCTCAGGTTCTTAGACCTTTGATT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	15/40			chr21	TogoVar
BSN_chr3_49549477_49676549	49617277	AATACATT others(16): Show AATACATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp1 others(1): Show HG00323.hp1 HG01069.hp1 HG01071.hp1 NA20129.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0009 a0002c0002 a0010c0009	a0002c0002t0001 a0010c0009t0001 a0002c0002t0001 a0010c0009t0001	a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 others(1): Show a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0010c0009t0001g0072	4	186	0.0215	-23	c.225 others(40): Show c.225-7694_225-7672delCATTATATATATATATATATATA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTAF1_chr10_91918770_92036437	92015025	TTGTGCAG others(16): Show TTGTGCAGTGCATGACTATGTATC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	330	0.0030	-23	c.458 others(41): Show c.4584+997_4584+1019delTGTGCAGTGCATGACTATGTATC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	32/37			chr10	TogoVar
BTBD2_chr19_1980448_2020714	2002351	GATTACAG others(16): Show GATTACAGGCAAACTGATAACTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	364	0.0028	-23	c.408 others(40): Show c.408-4911_408-4889delACAGTTATCAGTTTGCCTGTAAT	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/8			chr19	TogoVar
BTBD9_chr6_38163451_38644929	38266605	GGAAAGAA others(16): Show GGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0009 a0001c0001t0161g0009	1	224	0.0045	-23	c.145 others(44): Show c.1455-10112_1455-10090delTTCTTTCTTTCTTTCTTTCTTTC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38367799	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01109.hp1 others(21): Show HG00140.hp1 HG00323.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01361.hp2 HG01884.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp2 HG03834.hp1 HG04228.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(19): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0032 a0001c0001t0033 a0001c0001t0057 a0001c0001t0061 a0001c0001t0090 a0001c0001t0091 a0001c0001t0099 a0001c0001t0111 a0001c0001t0120 a0001c0001t0139 a0001c0001t0146 a0001c0001t0156 a0001c0001t0158 a0001c0001t0160 a0001c0001t0165 a0001c0001t0186 a0002c0003t0183	a0001c0001t0001g0212 a0001c0001t0007g0017 a0001c0001t0007g0024 others(21): Show a0001c0001t0001g0212 a0001c0001t0007g0017 a0001c0001t0007g0024 a0001c0001t0009g0044 a0001c0001t0012g0218 a0001c0001t0015g0076 a0001c0001t0015g0220 a0001c0001t0032g0180 a0001c0001t0033g0216 a0001c0001t0057g0066 a0001c0001t0061g0064 a0001c0001t0090g0036 a0001c0001t0091g0033 a0001c0001t0099g0177 a0001c0001t0111g0037 a0001c0001t0120g0192 a0001c0001t0139g0039 a0001c0001t0146g0047 a0001c0001t0156g0172 a0001c0001t0158g0146 a0001c0001t0160g0012 a0001c0001t0165g0078 a0001c0001t0186g0224 a0002c0003t0183g0008	24	224	0.1071	-23	c.115 others(44): Show c.1155-22729_1155-22707delTTTTTTTTTTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTN3A1_chr6_26397275_26420208	26412253	CAGTTACT others(16): Show CAGTTACTGGAACCCAGAATAAGA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02293.hp1 NA18952.hp2 others(4): Show HG01496.hp2 HG02293.hp1 NA18952.hp2 NA18961.hp1 NA18981.hp1 NA19057.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0071 a0001c0001t0001g0010 a0001c0001t0001g0071	7	394	0.0178	-23	c.101 others(40): Show c.1018+676_1018+698delTACTGGAACCCAGAATAAGAAGT	BTN3A1	ENSG00000026950.17	transcript	ENST00000289361.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BTN3A2_chr6_26360198_26383312	26374201	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0180 a0001c0001t0037g0180	1	382	0.0026	-23	c.965 others(37): Show c.965-109_965-87delAAAAAAAAAAAAAAAAAAAAAAA	BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
BTRC_chr10_101349165_101562313	101522014	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02135.hp2 HG00558.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0168 a0001c0001t0004g0260 a0001c0001t0004g0168 a0001c0001t0004g0260	2	266	0.0075	-23	c.556 others(38): Show c.556+158_556+180delTTTTTTTTTTTTTTTTTTTTTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BZW1_chr2_200806910_200832338	200826395	AGATAGAT others(16): Show AGATAGATAGATATTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0005 a0001c0001t0077g0005	1	388	0.0026	-23	c.42 others(34): Show c.4218_*4240delGATAGATAGATATTTTTTTTTTT	BZW1	ENSG00000082153.18	transcript	ENST00000409600.6	protein_coding	12/12	4218		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 4709 hits)