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
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0047 a0002c0004t0001g0047	1	208	0.0048	35	c.180 others(52): Show c.180+6647_180+6648insAAAAAAATATATATATATATATATATAT ATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIP2B_chr12_50499985_50753657	50593732	T T	TCTCCCCT others(28): Show TCTCCCCTCCTCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG00735.hp1 others(13): Show HG00597.hp2 HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01192.hp2 HG01256.hp2 HG01433.hp1 HG01496.hp1 HG01978.hp2 HG02083.hp1 HG02683.hp2 HG03491.hp2 HG03831.hp1 NA18747.hp2 NA18952.hp1 NA19057.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0013 a0004c0009 a0001c0002 a0001c0013 a0004c0009	a0001c0002t0003 a0001c0002t0013 a0001c0002t0018 others(3): Show a0001c0002t0003 a0001c0002t0013 a0001c0002t0018 a0001c0002t0042 a0001c0013t0003 a0004c0009t0013	a0001c0002t0003g0203 a0001c0002t0003g0207 a0001c0002t0003g0218 others(13): Show a0001c0002t0003g0203 a0001c0002t0003g0207 a0001c0002t0003g0218 a0001c0002t0003g0221 a0001c0002t0003g0226 a0001c0002t0003g0233 a0001c0002t0003g0240 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0013g0112 a0001c0002t0018g0227 a0001c0002t0042g0253 a0001c0013t0003g0204 a0004c0009t0013g0113 a0004c0009t0013g0241	16	284	0.0563	35	c.101 others(54): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(28): Show TCTCCTCTCCCCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19070.hp2 NA19086.hp2 NA19002.hp2 NA19070.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0004 a0001c0015t0004 a0001c0002t0004 a0001c0015t0004	a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0015t0004g0180 a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0015t0004g0180	3	284	0.0106	35	c.101 others(54): Show c.101-32230_101-32229insTCTCCCCTCCTCTCCTCTCCTCTCCC CTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(28): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0277 a0001c0004t0005g0277	1	284	0.0035	35	c.101 others(54): Show c.101-32230_101-32229insTCTCCTCTCCTCTCCTCTCCTCTCCC CTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	594512	G G	GTAAGGGA others(28): Show GTAAGGGAACATGGCCAAGTACAAACCATTTCAACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0083 a0001c0015t0002g0083	1	88	0.0114	35	c.85+ others(52): Show c.85+94981_85+94982insTGTTGAAATGGTTTGTACTTGGCCATGT TCCCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	594512	G G	GTAAGGGA others(28): Show GTAAGGGAACATGGCCGAGTACAAACCATTTCAACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03579.hp1 HG02717.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0009 a0001c0002t0001 a0001c0016t0009	a0001c0002t0001g0061 a0001c0016t0009g0073 a0001c0002t0001g0061 a0001c0016t0009g0073	2	88	0.0227	35	c.85+ others(52): Show c.85+94981_85+94982insTGTTGAAATGGTTTGTACTCGGCCATGT TCCCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2725800	C C	CTGGTTTT others(28): Show CTGGTTTTTGACCAAATGGTCTCTGTATTTTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	35	c.-45 others(46): Show c.-4567_-4566insATTTTAAAATACAGAGACCATTTGGTCAAAAACC A	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		4429		chr19	TogoVar
DIS3L2_chr2_231956713_232342192	232000613	T T	TTTTCCTT others(28): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01975.hp1 HG01981.hp2 others(12): Show HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG06807.hp1 NA18941.hp2 NA18965.hp2 NA18992.hp2 NA19010.hp1 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0007 a0002c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0040 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0214 a0001c0001t0001g0300 a0001c0002t0001g0017 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0003t0007g0174 a0002c0004t0001g0203	15	304	0.0493	35	c.-93 others(54): Show c.-93-14207_-93-14173dupCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03130.hp1 NA19030.hp1 HG02630.hp1 HG03130.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0010 a0004c0007t0010 a0001c0001t0010 a0004c0007t0010	a0001c0001t0010g0031 a0004c0007t0010g0007 a0001c0001t0010g0031 a0004c0007t0010g0007	3	400	0.0075	35	c.558 others(50): Show c.558+251_558+252insAAAAAAAAAAAAAAAAAAATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02622.hp2 HG02109.hp2 HG02280.hp2 HG02622.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0010 a0004c0007t0010 a0001c0001t0010 a0004c0007t0010	a0001c0001t0010g0032 a0001c0001t0010g0033 a0004c0007t0010g0034 a0001c0001t0010g0032 a0001c0001t0010g0033 a0004c0007t0010g0034	3	400	0.0075	35	c.558 others(50): Show c.558+251_558+252insAAAAAAAAAAAAAAAAATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18961.hp1 NA18943.hp2 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0002 a0001c0003t0004 a0002c0002t0002	a0001c0003t0004g0135 a0002c0002t0002g0200 a0001c0003t0004g0135 a0002c0002t0002g0200	2	400	0.0050	35	c.558 others(50): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02040.hp2 HG01175.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0261 a0002c0002t0002g0201 a0002c0002t0002g0261	2	400	0.0050	35	c.558 others(50): Show c.558+251_558+252insAAAAAAAAATATATATATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18982.hp2 NA19072.hp1 NA18978.hp1 NA18982.hp2 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0257 a0002c0002t0002g0263 a0002c0002t0002g0220 a0002c0002t0002g0257 a0002c0002t0002g0263	3	400	0.0075	35	c.558 others(50): Show c.558+251_558+252insAAAAAAATATATATATATATATATATATAT ATATA	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(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0332 a0002c0002t0002g0255 a0001c0001t0005g0332 a0002c0002t0002g0255	2	400	0.0050	35	c.558 others(50): Show c.558+251_558+252insAAAAATATATATATATATATATATATATAT ATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP1_chr1_222810039_223010995	222936906	A A	AATATATT others(28): Show AATATATTATATATTATATAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19030.hp2 HG03516.hp2 NA19030.hp2	a0008 a0019 a0008 a0019	a0008c0017 a0019c0039 a0008c0017 a0019c0039	a0008c0017t0001 a0019c0039t0001 a0008c0017t0001 a0019c0039t0001	a0008c0017t0001g0175 a0019c0039t0001g0092 a0008c0017t0001g0175 a0019c0039t0001g0092	2	348	0.0058	35	c.-17 others(52): Show c.-17-5878_-17-5877insATAATATATATTATATATTATATATTAT ATAATAT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936906	A A	AATATATT others(28): Show AATATATTATATATTATATAATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02818.hp1 others(6): Show HG02257.hp2 HG02809.hp1 HG02818.hp1 HG03041.hp2 HG03453.hp2 HG03490.hp1 HG04184.hp1 HG06807.hp2 NA21309.hp2	a0001 a0003 a0017 others(1): Show a0001 a0003 a0017 a0018	a0001c0001 a0001c0037 a0003c0008 others(2): Show a0001c0001 a0001c0037 a0003c0008 a0017c0041 a0018c0040	a0001c0001t0001 a0001c0037t0001 a0003c0008t0001 others(2): Show a0001c0001t0001 a0001c0037t0001 a0003c0008t0001 a0017c0041t0001 a0018c0040t0001	a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0215 a0001c0037t0001g0166 a0003c0008t0001g0057 a0003c0008t0001g0216 a0017c0041t0001g0018 a0018c0040t0001g0100	9	348	0.0259	35	c.-17 others(52): Show c.-17-5892_-17-5858dupTATATTATATAATATGTAATATATATTA TATATTA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936908	T T	TATATTAT others(28): Show TATATTATATATTATATAATATGTAATATATATTAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01168.hp1 others(23): Show HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG02071.hp1 HG02080.hp1 HG02257.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18969.hp2 NA18994.hp2 NA19007.hp1 NA19056.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0003c0008 a0004c0047 a0005c0013 a0006c0011	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0003c0008t0001 a0004c0047t0001 a0005c0013t0001 a0006c0011t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0218 others(23): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0285 a0001c0006t0001g0072 a0001c0006t0001g0075 a0001c0006t0001g0080 a0001c0006t0001g0085 a0001c0006t0001g0219 a0003c0008t0001g0078 a0003c0008t0001g0079 a0004c0047t0001g0108 a0005c0013t0001g0076 a0005c0013t0001g0084 a0005c0013t0001g0089 a0006c0011t0001g0101	26	348	0.0747	35	c.-17 others(52): Show c.-17-5865_-17-5864insCATATTATATATTATATAATATGTAATA TATATTA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936915	T T	TATATTAT others(28): Show TATATTATATAATATGTAATATATATTATATATTAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02148.hp2 HG02280.hp2 others(4): Show HG02109.hp1 HG02148.hp2 HG02280.hp2 HG02647.hp1 HG02886.hp2 HG03453.hp1 NA18522.hp1	a0001 a0006 a0001 a0006	a0001c0016 a0001c0020 a0006c0011 a0001c0016 a0001c0020 a0006c0011	a0001c0016t0001 a0001c0020t0001 a0006c0011t0001 a0001c0016t0001 a0001c0020t0001 a0006c0011t0001	a0001c0016t0001g0102 a0001c0016t0001g0104 a0001c0016t0001g0105 others(4): Show a0001c0016t0001g0102 a0001c0016t0001g0104 a0001c0016t0001g0105 a0001c0016t0001g0270 a0001c0020t0001g0103 a0001c0020t0001g0107 a0006c0011t0001g0106	7	348	0.0201	35	c.-17 others(52): Show c.-17-5882_-17-5848dupAATATGTAATATATATTATATATTACAT ATTATAT	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG01243.hp1 others(1): Show HG00738.hp2 HG01109.hp1 HG01243.hp1 HG02080.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0026 others(1): Show a0001c0002 a0001c0005 a0001c0026 a0002c0003	a0001c0002t0001 a0001c0005t0001 a0001c0026t0001 others(1): Show a0001c0002t0001 a0001c0005t0001 a0001c0026t0001 a0002c0003t0001	a0001c0002t0001g0077 a0001c0005t0001g0230 a0001c0026t0001g0229 others(1): Show a0001c0002t0001g0077 a0001c0005t0001g0230 a0001c0026t0001g0229 a0002c0003t0001g0025	4	348	0.0115	35	c.510 others(54): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0083 a0001c0003t0083	a0001c0003t0083g0003 a0001c0003t0083g0003	1	396	0.0025	35	c.36 others(46): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAATATATATATATATAT A	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(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA21309.hp2 HG02148.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0005c0005t0005 a0002c0002t0002 a0005c0005t0005	a0002c0002t0002g0314 a0005c0005t0005g0210 a0002c0002t0002g0314 a0005c0005t0005g0210	2	336	0.0060	35	c.51 others(46): Show c.5150_*5151insAAAAAAAAAAAAAATATATATATATATATATATA T	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18974.hp2 HG00544.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0240 a0002c0002t0002g0304 a0002c0002t0002g0240 a0002c0002t0002g0304	2	336	0.0060	35	c.51 others(46): Show c.5150_*5151insAAAAAAAAAAAATATATATATATATATATATATA T	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0194 a0007c0008t0003g0194	1	336	0.0030	35	c.51 others(46): Show c.5150_*5151insAAAAAAAAAATATATATATATATATATATATATA T	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0311 a0002c0002t0002g0311	1	336	0.0030	35	c.51 others(46): Show c.5150_*5151insAATATATATATATATATATATATATATATATATA T	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0007 a0001c0011t0003g0007	1	212	0.0047	35	c.134 others(54): Show c.1349-4700_1349-4699insATATATATATATTTTTTTTTTTTTTT TTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0092 a0001c0011t0003g0092	1	212	0.0047	35	c.134 others(54): Show c.1349-4700_1349-4699insATATATATATATATATTTTTTTTTTT TTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197230959	T T	TACTATAT others(28): Show TACTATATGATTTATGCTAAATCATATACTATATGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02257.hp1 HG03098.hp1 others(4): Show HG01361.hp2 HG02257.hp1 HG03098.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0019 a0001c0003t0004 a0001c0003t0019	a0001c0003t0004g0209 a0001c0003t0004g0210 a0001c0003t0004g0211 others(4): Show a0001c0003t0004g0209 a0001c0003t0004g0210 a0001c0003t0004g0211 a0001c0003t0004g0212 a0001c0003t0004g0213 a0001c0003t0004g0214 a0001c0003t0019g0111	7	332	0.0211	35	c.319 others(54): Show c.319-36371_319-36370insTCATATAGTATATGATTTAGCATAAA TCATATAGT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	4/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197298788	T T	TTGGGGGG others(28): Show TTGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	332	0.0030	35	c.-28 others(44): Show c.-285_-284insCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCCA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		177		chr3	TogoVar
DLG2_chr11_83450173_85632344	84624857	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	14	0.0714	35	c.358 others(54): Show c.358-90127_358-90126insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	6/27			chr11	TogoVar
DLG4_chr17_7182187_7222627	7184646	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0328 a0001c0001t0148g0328	1	376	0.0027	35	c.60 others(46): Show c.6061_*6062insTATATATATATATATATATATATATATATATATA T	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2540		chr17	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATGTATAT others(28): Show ATGTATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	35	c.19- others(52): Show c.19-26246_19-26245insTGTATATATATATATATATATATATATA TACACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATGTATAT others(28): Show ATGTATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	35	c.19- others(52): Show c.19-26246_19-26245insTGTATATATATATATATATATATATATA TATACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014926	G G	GTATGACC others(28): Show GTATGACCAGGACAGACGGCGCCTCCACTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	35	c.73+ others(54): Show c.73+106960_73+106961insTATGACCAGGACAGACGGCGCCTCCA CTGTGTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1017042	C C	CTGTGTGT others(28): Show CTGTGTGTATGACCAGGACAGACGGTGCCTCCACTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	35	c.73+ others(54): Show c.73+109083_73+109084insATGACCAGGACAGACGGTGCCTCCAC TGTGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1110161	C C	CATAGGTC others(28): Show CATAGGTCTGTGACGTGCTGGGTCTGTGAGGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0006t0021 a0002c0001t0005 a0002c0006t0021	a0002c0001t0005g0035 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0006t0021g0014	2	40	0.0500	35	c.74- others(54): Show c.74-148689_74-148688insTAGGTCTGTGACGTGCTGGGTCTGTG AGGTGTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1374024	C C	CGTTTGCA others(28): Show CGTTTGCAGAGGGCTGTGTGGTGGAGGTTAGGTTAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	35	c.106 others(56): Show c.106+115151_106+115185dupGGGCTGTGTGGTGGAGGTTAGGTT AGGTTTGCAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1374069	C C	CGGCTGTG others(28): Show CGGCTGTGTGGTGGAGGTTAGGTTAGGTTTACAGAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	35	c.106 others(56): Show c.106+115215_106+115216insACAGAAGGCTGTGTGGTGGAGGTT AGGTTAGGTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32231949	T T	TACACACA others(28): Show TACACACAAATATAGTATGATTTGTGTGTGTTTGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0018 a0022 a0018 a0022	a0018c0061 a0022c0025 a0018c0061 a0022c0025	a0018c0061t0001 a0022c0025t0006 a0018c0061t0001 a0022c0025t0006	a0018c0061t0001g0003 a0022c0025t0006g0108 a0018c0061t0001g0003 a0022c0025t0006g0108	2	126	0.0159	35	c.629 others(56): Show c.6291-14921_6291-14887dupTGCAAACACACACAAATCATACTA TATTTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19062.hp1 NA18943.hp1 NA19062.hp1	a0003 a0004 a0003 a0004	a0003c0014 a0004c0004 a0003c0014 a0004c0004	a0003c0014t0001 a0004c0004t0002 a0003c0014t0001 a0004c0004t0002	a0003c0014t0001g0059 a0004c0004t0002g0086 a0003c0014t0001g0059 a0004c0004t0002g0086	2	126	0.0159	35	c.592 others(54): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32548184	C C	CATTCAGA others(28): Show CATTCAGAAATGAGTAAAATAGAAACTCCATATTTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	126	0.0079	35	c.199 others(54): Show c.1993-2885_1993-2851dupTAAATATGGAGTTTCTATTTTACTCA TTTCTGAAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72880587	G G	GTTTGCTT others(28): Show GTTTGCTTTGCTTTGCTTTGCTTTGCTTTGCTTTGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18966.hp1 NA18974.hp1 HG00544.hp2 NA18966.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0012g0002 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0012g0002	3	54	0.0556	35	c.-94 others(52): Show c.-94-4834_-94-4800dupGCAAAGCAAAGCAAAGCAAAGCAAAGCA AAGCAAA	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DNAAF3_chr19_55153665_55171613	55167888	T T	TCAGGAGG others(28): Show TCAGGAGGCAGATCCGGCACTGGGAAGACTCCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	35	c.-13 others(46): Show c.-1371_-1370insGTAGGGAGTCTTCCCAGTGCCGGATCTGCCTCCT G	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1276		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55447794	G G	GAGAGGGG others(28): Show GAGAGGGGAGAGGGCAGAGGGGAGAGGGGAGAGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18977.hp2 NA18983.hp2 others(1): Show HG00408.hp2 NA18977.hp2 NA18983.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0242	4	338	0.0118	35	c.783 others(52): Show c.783+2393_783+2427dupGCCCTCTCCCCTCTCCCCTCTGCCCTCT CCCCTCT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DNAH10_chr12_123757301_123940714	123782329	G G	GCCTCCCC others(28): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18979.hp2 HG02027.hp2 NA18979.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0115 a0006c0027t0001g0145 a0006c0027t0001g0115 a0006c0027t0001g0145	2	170	0.0118	35	c.842 others(50): Show c.842-750_842-749insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	6/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(28): Show TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0226 a0226	a0226c0260 a0226c0260	a0226c0260t0016 a0226c0260t0016	a0226c0260t0016g0226 a0226c0260t0016g0226	1	298	0.0034	35	c.100 others(54): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(28): Show TCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0120 a0120	a0120c0058 a0120c0058	a0120c0058t0022 a0120c0058t0022	a0120c0058t0022g0002 a0120c0058t0022g0002	1	298	0.0034	35	c.100 others(54): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTCTTTCTT TCTTTCTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TTTTCTTT others(28): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0099 a0099	a0099c0154 a0099c0154	a0099c0154t0003 a0099c0154t0003	a0099c0154t0003g0272 a0099c0154t0003g0272	1	298	0.0034	35	c.100 others(54): Show c.10026+493_10026+494insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TTTTCTTT others(28): Show TTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0134 a0134	a0134c0138 a0134c0138	a0134c0138t0005 a0134c0138t0005	a0134c0138t0005g0011 a0134c0138t0005g0011	1	298	0.0034	35	c.100 others(54): Show c.10026+489_10026+490insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	266	0.0038	35	c.730 others(54): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT TTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0001 a0022c0028t0001	a0022c0028t0001g0250 a0022c0028t0001g0250	1	266	0.0038	35	c.730 others(54): Show c.7305+1447_7305+1448insATATATATATATATATATATATATAT ATTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 4618 hits)