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
DIP2C_chr10_269201_694668	322192	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	88	0.0114	49	c.392 others(68): Show c.3924+4813_3924+4814insACACTGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322224	C C	CCGGCGAG others(42): Show CCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0071 a0001c0023t0003g0071	1	88	0.0114	49	c.392 others(68): Show c.3924+4781_3924+4782insCACCCCCGCACCCCCGACTGACTGTT CTAACAACACTGGTCTCTCGCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322237	G G	GGTGTTGT others(42): Show GGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGTGAGAGACCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0010 a0001c0005t0002g0010	1	88	0.0114	49	c.392 others(68): Show c.3924+4768_3924+4769insTGGTCTCTCACCGGACCCCCGCACCC CCGACTGACTGTTCTAACAACAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322320	C C	CTCCGGCG others(42): Show CTCCGGCGAGAGGCCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	88	0.0114	49	c.392 others(68): Show c.3924+4685_3924+4686insCCCCCGCACCCCCGACTGACTGTTCT AACAACACTGGCCTCTCGCCGGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322339	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	88	0.0114	49	c.392 others(68): Show c.3924+4666_3924+4667insACGCCGGCCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322388	T T	TTGTTAGA others(42): Show TTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	88	0.0114	49	c.392 others(68): Show c.3924+4569_3924+4617dupGCGCCGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322437	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	88	0.0114	49	c.392 others(68): Show c.3924+4568_3924+4569insACACTGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322471	G G	GGCGAGAG others(42): Show GGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0052 a0001c0012t0002g0052	1	88	0.0114	49	c.392 others(68): Show c.3924+4534_3924+4535insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322486	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	88	0.0114	49	c.392 others(68): Show c.3924+4519_3924+4520insACGCCGGTCTCTCGCCGGACCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322535	T T	TTGTTAGA others(42): Show TTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGCGAGAGACCGGCGC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	88	0.0114	49	c.392 others(68): Show c.3924+4470_3924+4471insGCGCCGGTCTCTCGCCGCACCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322614	C C	CTCCAGCG others(42): Show CTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	88	0.0114	49	c.392 others(68): Show c.3924+4391_3924+4392insCCCCCGCACCCCCGACTGACTGTTCT AACAACGCCGGTCTCTCGCTGGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322765	G G	GGCGAGAG others(42): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0071 a0001c0023t0003g0071	1	88	0.0114	49	c.392 others(68): Show c.3924+4240_3924+4241insTGGACCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322873	C C	CGGCGTTG others(42): Show CGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	88	0.0114	49	c.392 others(68): Show c.3924+4132_3924+4133insAGTCTCTCGCCGGAGCCCCGCACCCC CGACTGACTGTTCTAACAACGCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322878	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGTGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	88	0.0114	49	c.392 others(68): Show c.3924+4127_3924+4128insACACCGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322961	A A	AGCGAGAG others(42): Show AGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	88	0.0114	49	c.392 others(68): Show c.3924+4044_3924+4045insCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323012	C C	CGAGAGAC others(42): Show CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0071 a0001c0023t0003g0071	1	88	0.0114	49	c.392 others(68): Show c.3924+3993_3924+3994insACTGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323104	C C	CTCCGGCG others(42): Show CTCCGGCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	88	0.0114	49	c.392 others(68): Show c.3924+3901_3924+3902insCCCCCGCACCCCCGACTGACTGTTCT AACAACGCCGGCCTCTCGCCGGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323110	C C	CGAGAGAC others(42): Show CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	88	0.0114	49	c.392 others(68): Show c.3924+3895_3924+3896insACTGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCGGTCTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323157	A A	AGTGAGAG others(42): Show AGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	49	c.392 others(68): Show c.3924+3848_3924+3849insCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323251	C C	CTCCAGCG others(42): Show CTCCAGCGAGAGACTGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	88	0.0114	49	c.392 others(68): Show c.3924+3754_3924+3755insCCCCCGCACCCCCGACTGACTGTTCT AACAGCGCCAGTCTCTCGCTGGA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323319	C C	CTGTTAGA others(42): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	88	0.0114	49	c.392 others(68): Show c.3924+3686_3924+3687insACACTGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323451	A A	AGTGAGAG others(42): Show AGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0035 a0001c0013t0002g0035	1	88	0.0114	49	c.392 others(68): Show c.3924+3554_3924+3555insCGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477536	A A	AAGGAGGG others(42): Show AAGGAGGGGGCACAGGGGGAGGAAGGGGCACGGGGGAAGGTGGGGGGGTG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	88	0.0114	49	c.158 others(66): Show c.158-4988_158-4987insCACCCCCCCACCTTCCCCCGTGCCCCTT CCTCCCCCTGTGCCCCCTCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	489633	T T	TTTCACAC others(42): Show TTTCACACTAGGGACACGGTGGCTCTGACGGTGCCCGGGGCTTCCTCCAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0011 a0001c0018t0003g0011	1	88	0.0114	49	c.86- others(64): Show c.86-3152_86-3104dupGTGGAGGAAGCCCCGGGCACCGTCAGAGCC ACCGTGTCCCTAGTGTGAA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608564	C C	CCACACAC others(42): Show CCACACACACACACATCCCCCCCCCACACACACACATCCCCCCCCCCACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	88	0.0114	49	c.85+ others(66): Show c.85+80929_85+80930insTGTGGGGGGGGGGATGTGTGTGTGTGGG GGGGGGATGTGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608594	A A	ACATCCCC others(42): Show ACATCCCCCCCCCACACACACACACATCCCCCCCACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	88	0.0114	49	c.85+ others(66): Show c.85+80899_85+80900insATGTGTGTGTGTGTGTGGGGGGGATGTG TGTGTGTGTGGGGGGGGGATG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0136 a0001c0003t0004g0136	1	400	0.0025	49	c.558 others(64): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAT others(42): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0152 a0001c0003t0015g0152	1	400	0.0025	49	c.558 others(64): Show c.558+251_558+252insAAAAATATATATATATATATATATATATAT ATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAATAT others(42): Show AAAAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	400	0.0025	49	c.558 others(64): Show c.558+251_558+252insAAATATATATATATATATATATATATATAT ATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0003 a0001c0003t0068g0003	1	396	0.0025	49	c.36 others(60): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(42): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0277 a0002c0002t0002g0277	1	336	0.0030	49	c.51 others(60): Show c.5150_*5151insAAAAAAAATATATATATATATATATATATATATA TATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13479829	G G	GAGAAAAA others(42): Show GAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGGAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0008 a0002c0014t0008	a0002c0014t0008g0095 a0002c0014t0008g0095	1	212	0.0047	49	c.102 others(70): Show c.1023+19219_1023+19220insTCTTTCTTTTCCTTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTTTTCT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATGTATAT others(42): Show ATGTATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	49	c.19- others(66): Show c.19-26246_19-26245insTGTATATATATATATATATATATATATA TATATATATATATATACACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	965613	G G	GCCCCGCA others(42): Show GCCCCGCACTGCACACGGCACTGTTCACCACACACGGCTCCTGAGTCTGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	40	0.0250	49	c.73+ others(66): Show c.73+57680_73+57681insCGGCTCCTGAGTCTGACCCCGCACTGCA CACGGCACTGTTCACCACACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1348498	A A	ACATTGCA others(42): Show ACATTGCACTCATGGTAGCTGTGTGGAGGTTGAGTTTCCACATAGAGCTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02258.hp1 HG02647.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0002 a0002c0001t0005 a0001c0003t0017 a0002c0001t0002 a0002c0001t0005	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0028 a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0028	3	40	0.0750	49	c.106 others(68): Show c.106+89628_106+89629insGTAGCTGTGTGGAGGTTGAGTTTCCA CATAGAGCTGCATTGCACTCATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMBT1_chr10_122555754_122648736	122644061	C C	CTGCTGTC others(42): Show CTGCTGTCATGCTGTGCTGCTGTGCGGTCTGTGCGGTTGTGCGGCTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0069 a0069	a0069c0056 a0069c0056	a0069c0056t0007 a0069c0056t0007	a0069c0056t0007g0247 a0069c0056t0007g0247	1	282	0.0036	49	c.66 others(58): Show c.663_*664insTGCTGTCATGCTGTGCTGCTGTGCGGTCTGTGCGGT TGTGCGGCTGTGT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding		326		chr10	TogoVar
DNAH10_chr12_123757301_123940714	123908136	T T	TCTCCCTG others(42): Show TCTCCCTGTCTCCTCCCTATCTCCCTGTCTCCTCCCTGTCTCTCTGTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20300.hp2 HG01243.hp2 NA20300.hp2	a0041 a0066 a0041 a0066	a0041c0060 a0066c0095 a0041c0060 a0066c0095	a0041c0060t0001 a0066c0095t0001 a0041c0060t0001 a0066c0095t0001	a0041c0060t0001g0043 a0066c0095t0001g0169 a0041c0060t0001g0043 a0066c0095t0001g0169	2	170	0.0118	49	c.981 others(68): Show c.9816-1122_9816-1121insCCTGTCTCCTCCCTATCTCCCTGTCT CCTCCCTGTCTCTCTGTCCCCTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	57/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911763	T T	TGGGGGGT others(42): Show TGGGGGGTCTGTCCTGGGCGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0039 a0039	a0039c0042 a0039c0042	a0039c0042t0002 a0039c0042t0002	a0039c0042t0002g0091 a0039c0042t0002g0091	1	170	0.0059	49	c.101 others(70): Show c.10134+1108_10134+1109insCGGGGGGGTCTGTCCTGGGGGGGT CTGTCCTGGGGGGGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912233	T T	TGGGGGGG others(42): Show TGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0061 a0061	a0061c0087 a0061c0087	a0061c0087t0001 a0061c0087t0001	a0061c0087t0001g0162 a0061c0087t0001g0162	1	170	0.0059	49	c.101 others(68): Show c.10135-860_10135-859insGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0001 a0016c0012t0001	a0016c0012t0001g0108 a0016c0012t0001g0108	1	266	0.0038	49	c.133 others(68): Show c.1335+1673_1335+1674insATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78425756	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0115 a0115	a0115c0222 a0115c0222	a0115c0222t0001 a0115c0222t0001	a0115c0222t0001g0128 a0115c0222t0001g0128	1	252	0.0040	49	c.129 others(68): Show c.12916-186_12916-185insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	79/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541139	G G	GGGTGGGG others(42): Show GGGTGGGGGGGTGAGCGGGGTGGGGGGATGAGCAGGTGGGGGGATGAGCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0041 a0041	a0041c0122 a0041c0122	a0041c0122t0001 a0041c0122t0001	a0041c0122t0001g0227 a0041c0122t0001g0227	1	252	0.0040	49	c.253 others(68): Show c.2533-1260_2533-1259insTGCTCATCCCCCCACCTGCTCATCCC CCCACCCCGCTCACCCCCCCACC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541205	G G	GGGGTGGG others(42): Show GGGGTGGGGGGATGAGCAGGTGGGGGGGTGAGCGGGGTGGGGGGTGAGCA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0116 a0116	a0116c0191 a0116c0191	a0116c0191t0001 a0116c0191t0001	a0116c0191t0001g0158 a0116c0191t0001g0158	1	252	0.0040	49	c.253 others(68): Show c.2533-1326_2533-1325insTGCTCACCCCCCACCCCGCTCACCCC CCCACCTGCTCATCCCCCCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19058.hp1 HG02698.hp1 NA19058.hp1	a0001 a0056 a0001 a0056	a0001c0005 a0056c0122 a0001c0005 a0056c0122	a0001c0005t0001 a0056c0122t0001 a0001c0005t0001 a0056c0122t0001	a0001c0005t0001g0093 a0056c0122t0001g0095 a0001c0005t0001g0093 a0056c0122t0001g0095	2	316	0.0063	49	c.229 others(66): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0040 a0010c0017t0002g0040	1	316	0.0032	49	c.229 others(66): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0043 a0010c0017t0002g0043	1	316	0.0032	49	c.229 others(66): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGA others(42): Show GGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18981.hp2 NA18947.hp2 NA18981.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0029 a0001c0001 a0018c0029	a0001c0001t0001 a0018c0029t0001 a0001c0001t0001 a0018c0029t0001	a0001c0001t0001g0210 a0018c0029t0001g0213 a0001c0001t0001g0210 a0018c0029t0001g0213	2	234	0.0086	49	c.324 others(66): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCCCTCCCTCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(42): Show GGGGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0086 a0001c0086	a0001c0086t0001 a0001c0086t0001	a0001c0086t0001g0154 a0001c0086t0001g0154	1	234	0.0043	49	c.324 others(66): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCTCCCTCCCTCCCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(42): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18964.hp1 NA18980.hp1 others(2): Show NA18939.hp2 NA18964.hp1 NA18980.hp1 NA18984.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	338	0.0148	49	c.29 others(60): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAC AGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	279	0.0036	49	c.59 others(60): Show c.5994_*5995insAAAAAAAAATATATATATATATATATATATATAT ATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar

Search by Variant

Search

Search Results (Total: 2057 hits)