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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ARL15_chr5_53878942_54315573	53910634	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	206	0.0049	-21	c.463 others(40): Show c.463-23942_463-23922delTATATATATATATATATATAT		ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4						chr5	TogoVar
ARL15_chr5_53878942_54315573	54029312	CACCACCA others(14): Show CACCACCACCACCACCACCACT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	206	0.0049	-21	c.462 others(40): Show c.462+83869_462+83889delAGTGGTGGTGGTGGTGGTGGT		ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	4/4						chr5	TogoVar
ARL3_chr10_102668731_102719397	102703425	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	424	0.0024	-21	c.147 others(38): Show c.147+1900_147+1920delAAAAAAAAAAAAAAAAAAAAA		ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	2/5						chr10	TogoVar
ARL8A_chr1_202128404_202149737	202135890	AAGCATCT others(14): Show AAGCATCTGTTGCAGCTTGGTC	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	436	0.0023	-21	c.279 others(35): Show c.279-111_279-91delGACCAAGCTGCAACAGATGCT		ARL8A	ENSG00000143862.8	transcript	ENST00000272217.7	protein_coding	3/6						chr1	TogoVar
ARL8B_chr3_5117292_5185911	5135756	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	304	0.0033	-21	c.123 others(40): Show c.123+13194_123+13214delATTATTATTATTATTATTATT		ARL8B	ENSG00000134108.14	transcript	ENST00000256496.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC2_chr6_108843422_108979476	108941819	CTTTTAAA others(14): Show CTTTTAAAAAATTATACTTTGA	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	290	0.0035	-21	c.159 others(40): Show c.1596+4821_1596+4841delTTTTAAAAAATTATACTTTGA		ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	12/17						chr6	TogoVar
ARMC8_chr3_138182301_138303373	138201436	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	246	0.0041	-21	c.46- others(36): Show c.46-8360_46-8340delTTTTTTTTTTTTTTTTTTTTT		ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMH3_chr10_101840599_102061173	102041075	CATATATA others(14): Show CATATATATATATATAATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	262	0.0038	-21	c.-11 others(36): Show c.-11-971_-11-951delATATATTATATATATATATAT		ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	1/25						chr10	TogoVar
ARNT2_chr15_80399382_80602933	80407982	CAGAGTAA others(14): Show CAGAGTAATTAATAAGGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03017.hp2 HG03704.hp2 others(1): Show HG01978.hp1 HG03017.hp2 HG03704.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0002c0003t0007 a0001c0001t0003 a0001c0001t0007 a0002c0003t0007	a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0007g0253 others(1): Show a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0007g0253 a0002c0003t0007g0251	4	268	0.0149	-21	c.31+ others(36): Show c.31+3438_31+3458delGAGTAATTAATAAGGCTCATA		ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
ARPC1B_chr7_99369730_99399816	99397056	CCTCCACG others(14): Show CCTCCACGGGTTCTGAAGTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0050 a0001c0002t0003g0018 a0001c0002t0003g0050	2	340	0.0059	-21	c.25 others(32): Show c.2568_*2588delCTCCACGGGTTCTGAAGTCTA		ARPC1B	ENSG00000130429.16	transcript	ENST00000646101.2	protein_coding					2241		chr7	TogoVar
ARPC4_chr3_9788082_9812101	9792782	TTTGGTGC others(14): Show TTTGGTGCCCAATCTGAAGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	446	0.0022	-21	c.-33 others(30): Show c.-339_-319delTTGGTGCCCAATCTGAAGCTG		ARPC4	ENSG00000241553.13	transcript	ENST00000397261.8	protein_coding					299		chr3	TogoVar
ARPC5L_chr9_124857130_124882733	124867549	TGTCTCCC others(14): Show TGTCTCCCTGGCTGGAATGAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG03098.hp1 HG01109.hp1 HG02145.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0111 a0001c0001t0001g0048 a0001c0001t0001g0111	3	404	0.0074	-21	c.-86 others(38): Show c.-863-875_-863-855delTCCCTGGCTGGAATGAAAGTC		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
ARPP21_chr3_35634525_35799486	35667948	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03491.hp2 NA20752.hp1 HG02257.hp2 HG03491.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0037 a0001c0002t0002g0165 a0001c0002t0002g0173 a0001c0001t0001g0037 a0001c0002t0002g0165 a0001c0002t0002g0173	3	266	0.0113	-21	c.-21 others(42): Show c.-212-11775_-212-11755delAAGAAGAAGAAGAAGAAGAAG		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRDC1_chr9_137600686_137620360	137601230	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-21	c.-44 others(32): Show c.-4487_-4467delATATATATATATATATATATA		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4455		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601236	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 NA18964.hp2 HG02647.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0004g0023 a0001c0001t0001g0003 a0001c0001t0004g0023	2	338	0.0059	-21	c.-44 others(32): Show c.-4481_-4461delATATATATATATATATATATA		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4449		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601238	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03540.hp2 HG03579.hp1 others(1): Show HG01109.hp2 HG03540.hp2 HG03579.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0004g0023 a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0004g0023	4	338	0.0118	-21	c.-44 others(32): Show c.-4479_-4459delATATATATATATATATATATA		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4447		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601241	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01167.hp1 others(3): Show HG00280.hp1 HG00639.hp2 HG01167.hp1 HG02818.hp2 HG03239.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0011t0001 a0001c0001t0001 a0001c0001t0003 a0001c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0003g0013 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0003g0013 a0001c0011t0001g0002	6	338	0.0178	-21	c.-44 others(32): Show c.-4476_-4456delTATATATATATATATATATTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4444		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601243	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	338	0.0030	-21	c.-44 others(32): Show c.-4474_-4454delTATATATATATATATATTTTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4442		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601245	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA18951.hp2 HG02717.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0013 a0001c0001t0001g0002 a0001c0001t0003g0013	2	338	0.0059	-21	c.-44 others(32): Show c.-4472_-4452delTATATATATATATATTTTTTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4440		chr9	TogoVar
ARSB_chr5_78772209_78990310	78911572	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02004.hp1 HG01070.hp2 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0009 a0002c0002t0003 a0002c0002t0009	a0002c0002t0003g0197 a0002c0002t0009g0193 a0002c0002t0003g0197 a0002c0002t0009g0193	2	360	0.0056	-21	c.899 others(40): Show c.899-25766_899-25746delTTTTTTTTTTTTTTTTTTTTT		ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7						chr5	TogoVar
ARSD_chrX_2898972_2934339	2922842	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(107): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp1 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01516.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02809.hp2 HG03491.hp1 HG03654.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0014 others(3): Show a0001c0001 a0002c0002 a0002c0014 a0002c0016 a0003c0003 a0004c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(32): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0035 a0002c0002t0036 a0002c0002t0045 a0002c0002t0046 a0002c0002t0048 a0002c0002t0051 a0002c0014t0016 a0002c0016t0009 a0003c0003t0002 a0003c0003t0005 a0003c0003t0011 a0003c0003t0022 a0003c0003t0023 a0003c0003t0039 a0003c0003t0043 a0003c0003t0049 a0003c0003t0050 a0003c0003t0052 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005	a0001c0001t0003g0309 a0001c0001t0004g0009 a0001c0001t0004g0073 others(91): Show a0001c0001t0003g0309 a0001c0001t0004g0009 a0001c0001t0004g0073 a0001c0001t0004g0100 a0001c0001t0009g0310 a0002c0002t0001g0018 a0002c0002t0001g0037 a0002c0002t0001g0044 a0002c0002t0001g0066 a0002c0002t0001g0115 a0002c0002t0001g0186 a0002c0002t0003g0004 a0002c0002t0003g0015 a0002c0002t0003g0236 a0002c0002t0003g0243 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0250 a0002c0002t0003g0255 a0002c0002t0003g0259 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0273 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0289 a0002c0002t0003g0301 a0002c0002t0003g0304 a0002c0002t0003g0308 a0002c0002t0003g0311 a0002c0002t0004g0043 a0002c0002t0004g0045 a0002c0002t0004g0184 a0002c0002t0006g0150 a0002c0002t0007g0022 a0002c0002t0009g0257 a0002c0002t0010g0252 a0002c0002t0010g0274 a0002c0002t0014g0096 a0002c0002t0014g0222 a0002c0002t0015g0057 a0002c0002t0016g0249 a0002c0002t0017g0264 a0002c0002t0017g0280 a0002c0002t0017g0290 a0002c0002t0035g0098 a0002c0002t0036g0114 a0002c0002t0045g0245 a0002c0002t0046g0281 a0002c0002t0048g0303 a0002c0002t0051g0315 a0002c0014t0016g0271 a0002c0016t0009g0244 a0003c0003t0002g0001 a0003c0003t0002g0016 a0003c0003t0002g0248 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0272 a0003c0003t0002g0276 a0003c0003t0002g0279 a0003c0003t0002g0284 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0298 a0003c0003t0002g0302 a0003c0003t0002g0305 a0003c0003t0002g0306 a0003c0003t0002g0307 a0003c0003t0002g0312 a0003c0003t0005g0033 a0003c0003t0005g0038 a0003c0003t0005g0065 a0003c0003t0005g0105 a0003c0003t0011g0235 a0003c0003t0011g0237 a0003c0003t0011g0275 a0003c0003t0011g0277 a0003c0003t0022g0102 a0003c0003t0023g0032 a0003c0003t0023g0101 a0003c0003t0039g0034 a0003c0003t0043g0256 a0003c0003t0049g0278 a0003c0003t0050g0293 a0003c0003t0052g0314 a0004c0004t0002g0265 a0004c0004t0002g0266 a0004c0004t0002g0287 a0004c0004t0002g0288 a0004c0004t0003g0258 a0004c0004t0005g0151	110	344	0.3198	-21	c.195 others(36): Show c.195-839_195-819delTTTTTTTTTTTTTTTTTTTTT		ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	2/9						chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(14): Show TGCAGCAGCAGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02135.hp1 NA18960.hp1 HG02135.hp1 NA18960.hp1	a0034 a0035 a0034 a0035	a0034c0034 a0035c0035 a0034c0034 a0035c0035	a0034c0034t0001 a0035c0035t0003 a0034c0034t0001 a0035c0035t0003	a0034c0034t0001g0002 a0035c0035t0003g0073 a0034c0034t0001g0002 a0035c0035t0003g0073	2	193	0.0104	-21	c.219 others(28): Show c.219_239delGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln74_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1345/10667	219/2763	73/920		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049197	GGAACACA others(14): Show GGAACACATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	308	0.0033	-21	c.55 others(32): Show c.5513_*5533delTCCTCTGCCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2906		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049226	TGGGGGCA others(14): Show TGGGGGCAGAGGGGAACATATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02109.hp2 HG02647.hp1 others(2): Show HG00735.hp1 HG02109.hp2 HG02647.hp1 HG02886.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0015 a0001c0001t0001 a0002c0002t0015	a0001c0001t0001g0221 a0001c0001t0001g0278 a0001c0001t0001g0280 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0002c0002t0015g0116	5	308	0.0162	-21	c.54 others(32): Show c.5484_*5504delCATATGTTCCCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2877		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049321	GGAACACA others(14): Show GGAACACATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA20129.hp1 HG02630.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0011 a0001c0001t0011 a0002c0002t0011	a0001c0001t0011g0015 a0002c0002t0011g0235 a0001c0001t0011g0015 a0002c0002t0011g0235	2	308	0.0065	-21	c.53 others(32): Show c.5389_*5409delTCCTCTGCCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2782		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049350	TGGGGGCA others(14): Show TGGGGGCAGAGGAGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG03710.hp1 NA19011.hp2 HG01256.hp1 HG03710.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0024 a0002c0002t0001 a0002c0003t0010 a0001c0001t0024 a0002c0002t0001 a0002c0003t0010	a0001c0001t0024g0209 a0002c0002t0001g0092 a0002c0003t0010g0018 a0001c0001t0024g0209 a0002c0002t0001g0092 a0002c0003t0010g0018	3	308	0.0097	-21	c.53 others(32): Show c.5360_*5380delCATGTGTTCTCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2753		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049463	AGGAGAAC others(14): Show AGGAGAACACATGGGGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	308	0.0033	-21	c.52 others(32): Show c.5247_*5267delCTCTGCCCCCATGTGTTCTCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2640		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049466	AGAACACA others(14): Show AGAACACATGGGGGCAGAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG04199.hp2 HG00099.hp1 HG04199.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0010 a0002c0002 a0003c0010	a0002c0002t0001 a0003c0010t0019 a0002c0002t0001 a0003c0010t0019	a0002c0002t0001g0069 a0003c0010t0019g0287 a0002c0002t0001g0069 a0003c0010t0019g0287	2	308	0.0065	-21	c.52 others(32): Show c.5244_*5264delCCCCTCTGCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2637		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049518	AGGGCAGA others(14): Show AGGGCAGAGGGGAACACATGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA19090.hp2 NA19091.hp2 HG02165.hp2 NA19090.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0075 a0002c0002t0001g0142 a0002c0002t0001g0143	3	308	0.0097	-21	c.51 others(32): Show c.5192_*5212delCCCATGTGTTCCCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2585		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049557	TGGGGGCA others(14): Show TGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	308	0.0033	-21	c.51 others(32): Show c.5153_*5173delCATGTATTCCCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2546		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049580	GGGGCAGA others(14): Show GGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	308	0.0033	-21	c.51 others(32): Show c.5130_*5150delTCCATGTGTTCCCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2523		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049601	AGGGCAGA others(14): Show AGGGCAGAGGGGAACACATGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp1 NA18982.hp2 HG02258.hp2 HG02622.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0010g0043 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0010g0043	3	308	0.0097	-21	c.51 others(32): Show c.5109_*5129delCCCATGTGTTCCCCTCTGCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2502		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049764	TGGGGGCA others(14): Show TGGGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01943.hp1 HG02723.hp1 others(3): Show HG01496.hp2 HG01943.hp1 HG02723.hp1 HG03195.hp2 HG06807.hp2 NA18944.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0004c0012t0027	a0001c0001t0001g0053 a0001c0001t0002g0173 a0001c0001t0012g0295 others(3): Show a0001c0001t0001g0053 a0001c0001t0002g0173 a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0298 a0004c0012t0027g0233	6	308	0.0195	-21	c.49 others(32): Show c.4946_*4966delCATGTGTTCCCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2339		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049826	TGGGGGCA others(14): Show TGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0282 a0002c0002t0003g0282	1	308	0.0033	-21	c.48 others(32): Show c.4884_*4904delCATGTATTCCCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2277		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049859	AGAACACA others(14): Show AGAACACATGGGGGCAGAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 NA19009.hp1 NA19080.hp1 HG02257.hp2 NA19009.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0194 a0001c0001t0002g0236 a0001c0001t0001g0013 a0001c0001t0002g0194 a0001c0001t0002g0236	3	308	0.0097	-21	c.48 others(32): Show c.4851_*4871delCCCCTCTGCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2244		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050033	TGGGGGCA others(14): Show TGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	308	0.0033	-21	c.46 others(32): Show c.4677_*4697delCATGTATTCCCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2070		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050108	AGAACACA others(14): Show AGAACACATGGGGGGCAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02897.hp1 HG02071.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0015 a0001c0001t0001 a0002c0002t0015	a0001c0001t0001g0271 a0002c0002t0015g0239 a0001c0001t0001g0271 a0002c0002t0015g0239	2	308	0.0065	-21	c.46 others(32): Show c.4602_*4622delCCCTCTGCCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1995		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050116	TGGGGGGC others(14): Show TGGGGGGCAGAGGGGAACACAT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	1	308	0.0033	-21	c.45 others(32): Show c.4594_*4614delATGTGTTCCCCTCTGCCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1987		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050137	TGGGGGCA others(14): Show TGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02055.hp1 HG02300.hp1 others(12): Show HG00735.hp1 HG02055.hp1 HG02300.hp1 HG02717.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG06807.hp2 NA18948.hp1 NA18957.hp2 NA18982.hp1 NA18998.hp1 NA19043.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0001 a0002c0002t0003 a0002c0002t0015	a0001c0001t0001g0091 a0001c0001t0001g0155 a0001c0001t0001g0159 others(12): Show a0001c0001t0001g0091 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0012g0295 a0002c0002t0001g0075 a0002c0002t0003g0257 a0002c0002t0003g0264 a0002c0002t0003g0273 a0002c0002t0003g0275 a0002c0002t0003g0283 a0002c0002t0015g0116	15	308	0.0487	-21	c.45 others(32): Show c.4573_*4593delCATGTATTCCCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1966		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	TGGGGGCA others(14): Show TGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	308	0.0033	-21	c.45 others(32): Show c.4532_*4552delCATGTATTCCCCTCTGCCCCC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1925		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050194	TACATGGG others(14): Show TACATGGGGGGCAGAGGAGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02257.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	308	0.0065	-21	c.45 others(32): Show c.4516_*4536delGTTCTCCTCTGCCCCCCATGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1909		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130107514	AAATGTAT others(14): Show AAATGTATGTATGTATGTATGT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	308	0.0033	-21	c.240 others(40): Show c.2401+4559_2401+4579delACATACATACATACATACATT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262417	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01256.hp1 HG02004.hp1 others(4): Show HG00423.hp2 HG01256.hp1 HG02004.hp1 HG02040.hp1 HG02300.hp2 NA18906.hp2 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0010 a0002c0003t0001 a0002c0003t0010	a0002c0003t0001g0019 a0002c0003t0001g0023 a0002c0003t0001g0025 others(4): Show a0002c0003t0001g0019 a0002c0003t0001g0023 a0002c0003t0001g0025 a0002c0003t0001g0029 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0010g0018	7	308	0.0227	-21	c.187 others(40): Show c.187-25444_187-25424delCTCTCTCTCTCTCTCTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130419463	TGAAGCTA others(14): Show TGAAGCTAAAAACGGCTGCAGC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0232 a0001c0009t0001g0232	1	308	0.0033	-21	c.-27 others(40): Show c.-27-17514_-27-17494delGCTGCAGCCGTTTTTAGCTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29						chr8	TogoVar
ASB15_chr7_123596821_123644481	123620546	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0002 a0016c0017t0002	a0016c0017t0002g0343 a0016c0017t0002g0343	1	380	0.0026	-21	c.451 others(38): Show c.451+2811_451+2831delATATATATTTTTTTTTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620548	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0015 a0008c0009t0015	a0008c0009t0015g0342 a0008c0009t0015g0342	1	380	0.0026	-21	c.451 others(38): Show c.451+2813_451+2833delATATATTTTTTTTTTTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB2_chr14_93929166_93981570	93978761	GGACTCTT others(14): Show GGACTCTTGGCTATCCTGGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0104 a0001c0003t0001g0104	1	373	0.0027	-21	c.-24 others(32): Show c.-2422_-2402delACACCAGGATAGCCAAGAGTC		ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding					2192		chr14	TogoVar
ASB5_chr4_176208673_176274222	176218801	TTGTATGA others(14): Show TTGTATGATATATAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	410	0.0024	-21	c.671 others(38): Show c.671-1813_671-1793delTATATATTTATATATCATACA		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219512	TATATATT others(14): Show TATATATTTGTATGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19068.hp2 HG02683.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0110 a0001c0004t0001g0366 a0001c0001t0001g0110 a0001c0004t0001g0366	2	410	0.0049	-21	c.670 others(38): Show c.670+1622_670+1642delTTATATATCATACAAATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB5_chr4_176208673_176274222	176219556	AATATGTA others(14): Show AATATGTATATATTTGTATGAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	410	0.0024	-21	c.670 others(38): Show c.670+1578_670+1598delATCATACAAATATATACATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar

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Search Results (Total: 6287 hits)