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
B4GALNT3_chr12_454939_568509	472443	C C	CTTATTTT others(16): Show CTTATTTTATTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01891.hp1 others(22): Show HG01109.hp1 HG01167.hp2 HG01891.hp1 HG01952.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0011	a0001c0001 a0001c0042 a0003c0004 others(4): Show a0001c0001 a0001c0042 a0003c0004 a0004c0028 a0005c0006 a0006c0007 a0011c0015	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(18): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0055 a0001c0001t0091 a0001c0042t0002 a0003c0004t0029 a0003c0004t0080 a0003c0004t0086 a0004c0028t0004 a0005c0006t0001 a0005c0006t0007 a0006c0007t0001 a0006c0007t0002 a0006c0007t0039 a0006c0007t0065 a0006c0007t0067 a0011c0015t0039	a0001c0001t0002g0209 a0001c0001t0002g0294 a0001c0001t0005g0225 others(22): Show a0001c0001t0002g0209 a0001c0001t0002g0294 a0001c0001t0005g0225 a0001c0001t0013g0391 a0001c0001t0016g0179 a0001c0001t0022g0036 a0001c0001t0022g0037 a0001c0001t0022g0204 a0001c0001t0028g0208 a0001c0001t0055g0181 a0001c0001t0091g0232 a0001c0042t0002g0203 a0003c0004t0029g0182 a0003c0004t0029g0300 a0003c0004t0080g0201 a0003c0004t0086g0302 a0004c0028t0004g0207 a0005c0006t0001g0304 a0005c0006t0007g0146 a0006c0007t0001g0140 a0006c0007t0002g0180 a0006c0007t0039g0301 a0006c0007t0065g0206 a0006c0007t0067g0205 a0011c0015t0039g0303	25	394	0.0635	23	c.169 others(42): Show c.169+11908_169+11909insATTTTATTTTATTTTATTTTATT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0044 a0001c0048t0044	a0001c0048t0044g0394 a0001c0048t0044g0394	1	394	0.0025	23	c.170 others(42): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374793	A A	AAGGGAGG others(16): Show AAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp1 HG02040.hp2 HG02074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0030 a0001c0001 a0002c0030	a0001c0001t0001 a0002c0030t0001 a0001c0001t0001 a0002c0030t0001	a0001c0001t0001g0103 a0002c0030t0001g0120 a0001c0001t0001g0103 a0002c0030t0001g0120	2	184	0.0109	23	c.784 others(38): Show c.784-657_784-656insGAGGAGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375035	A A	AAGGGAGG others(16): Show AAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	184	0.0054	23	c.784 others(38): Show c.784-415_784-414insGAGGAGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375065	A A	AAGGGAGG others(16): Show AAGGGAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0003 a0015c0022t0003	a0015c0022t0003g0018 a0015c0022t0003g0018	1	184	0.0054	23	c.784 others(38): Show c.784-385_784-384insGAGGAGGAAGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33157101	C C	CACACACA others(16): Show CACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	366	0.0027	23	c.412 others(40): Show c.412+9656_412+9657insCGTGTGTGTGTGTGTGTGTGTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT5_chr20_49627945_49718878	49636936	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	364	0.0028	23	c.101 others(40): Show c.1019+404_1019+405insGTGTGTGTGTGTGTGTGTGTGTG	B4GALT5	ENSG00000158470.5	transcript	ENST00000371711.4	protein_coding	8/8			chr20	TogoVar
BABAM2_chr2_27885729_28343901	28112169	C C	CCCTTCCT others(16): Show CCCTTCCTTCCTTCCTTCTCCCTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	158	0.0063	23	c.571 others(42): Show c.571-17099_571-17098insTCCTTCCTTCCTTCTCCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112206	C C	CCTTCCTT others(16): Show CCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	158	0.0063	23	c.571 others(42): Show c.571-17064_571-17042dupCTTCCTTCCTTCCTTCCTTCCTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19091.hp1 HG03486.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0062 a0001c0001t0004g0118 a0001c0001t0002g0062 a0001c0001t0004g0118	2	158	0.0127	23	c.680 others(42): Show c.680+47194_680+47216dupAAAAAAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01256.hp1 others(9): Show HG00408.hp2 HG01070.hp1 HG01256.hp1 HG01258.hp1 HG01516.hp1 HG02083.hp1 HG02129.hp2 HG02683.hp2 HG03704.hp2 HG04184.hp2 NA18951.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0022	a0001c0001t0001g0251 a0001c0001t0002g0185 a0001c0001t0002g0187 others(9): Show a0001c0001t0001g0251 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0003g0064 a0001c0001t0003g0186 a0001c0001t0006g0189 a0001c0001t0009g0184 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0209 a0001c0002t0001g0252 a0001c0002t0022g0183	12	272	0.0441	23	c.312 others(40): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0007 a0001c0004t0033g0007	1	194	0.0052	23	c.-16 others(42): Show c.-161-3183_-161-3182insATATATTTTTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0050 a0001c0001t0003 a0001c0001t0050	a0001c0001t0003g0029 a0001c0001t0050g0025 a0001c0001t0003g0029 a0001c0001t0050g0025	2	194	0.0103	23	c.-16 others(42): Show c.-161-3183_-161-3182insATATATATTTTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0037 a0001c0005t0006g0037	1	194	0.0052	23	c.-16 others(42): Show c.-161-3183_-161-3182insATATATATATTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG04199.hp2 HG02145.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0098 a0001c0004t0134 a0001c0002t0098 a0001c0004t0134	a0001c0002t0098g0098 a0001c0004t0134g0184 a0001c0002t0098g0098 a0001c0004t0134g0184	2	194	0.0103	23	c.-16 others(42): Show c.-161-3183_-161-3182insATATATATATATTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	194	0.0052	23	c.-16 others(42): Show c.-161-3183_-161-3182insATATATATATATATTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0005 a0001c0003t0015g0005	1	194	0.0052	23	c.-16 others(44): Show c.-161-13921_-161-13920insAAAAAAATATATATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0006 a0001c0003t0015g0006	1	194	0.0052	23	c.-16 others(44): Show c.-161-13921_-161-13920insAAAAAAAAATATATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0021 a0001c0009t0021	a0001c0009t0021g0107 a0001c0009t0021g0107	1	194	0.0052	23	c.-16 others(44): Show c.-161-13921_-161-13920insAAAAAAAAAAAAAAATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAG3_chr10_119646380_119682819	119673487	C C	CAGGTTCC others(16): Show CAGGTTCCTGGAAGAGGATGTCAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0064 a0002c0003t0007g0064	1	420	0.0024	23	c.909 others(38): Show c.909+832_909+854dupAGGTTCCTGGAAGAGGATGTCAT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675840	C C	CTTCCCCC others(16): Show CTTCCCCCTTCCCCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp2 HG02451.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0213 a0001c0001t0004g0154 a0001c0001t0004g0213	2	420	0.0048	23	c.910 others(38): Show c.910-623_910-622insTCCCCCTTCCCCCTTCCCTCCTT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAHCC1_chr17_81390457_81471331	81432736	C C	CCCTCCCC others(16): Show CCCTCCCCCCCATCCCCAGACCCA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0289 a0001c0003t0003g0289	1	332	0.0030	23	c.359 others(40): Show c.359-5625_359-5624insCATCCCCAGACCCACCTCCCCCC	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18980.hp2 NA19087.hp2 NA18906.hp1 NA18980.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0158 a0001c0002t0001g0172 a0001c0002t0001g0148 a0001c0002t0001g0158 a0001c0002t0001g0172	3	298	0.0101	23	c.128 others(40): Show c.128-1893_128-1892insATATATATATATATTTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18953.hp1 HG03041.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0215 a0001c0002t0001g0185 a0001c0002t0001g0215	2	298	0.0067	23	c.128 others(40): Show c.128-1893_128-1892insATATATATATATATATTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0189 a0002c0006t0001g0189	1	298	0.0034	23	c.128 others(40): Show c.128-1893_128-1892insATATATATATATATATATTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(13): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG01257.hp1 HG01515.hp2 HG02040.hp2 HG02165.hp1 HG02602.hp2 HG02698.hp2 NA18946.hp1 NA18954.hp2 NA18975.hp1 NA19004.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0003 a0002c0002t0002 a0002c0002t0021 a0002c0002t0026 a0002c0002t0031	a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0003g0017 others(13): Show a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0003g0017 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0004g0029 a0001c0001t0004g0051 a0001c0001t0005g0261 a0001c0003t0003g0215 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0002g0267 a0002c0002t0021g0055 a0002c0002t0026g0160 a0002c0002t0031g0327	16	376	0.0426	23	c.130 others(40): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	376	0.0027	23	c.130 others(40): Show c.130+1830_130+1831insTTTTTTTTTTTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055574	G G	GTTTTTTG others(16): Show GTTTTTTGTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0197 a0001c0003t0003g0197	1	376	0.0027	23	c.130 others(40): Show c.130+1837_130+1838insGTTTTTTTTTGTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055574	G G	GTTTTTTG others(16): Show GTTTTTTGTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0298 a0001c0001t0006g0298	1	376	0.0027	23	c.130 others(40): Show c.130+1837_130+1838insGTTTTTTTTTTGTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81066387	A A	AGTCACTG others(16): Show AGTCACTGAATTAAGGTGTGGCCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0033 a0001c0001t0038g0033	1	376	0.0027	23	c.217 others(40): Show c.217+8422_217+8444dupTCACTGAATTAAGGTGTGGCCTG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01884.hp1 others(6): Show HG00735.hp1 HG01106.hp2 HG01884.hp1 HG02055.hp1 HG02630.hp2 HG02818.hp1 HG03098.hp1 NA19065.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0006 a0001c0005t0004 a0001c0001t0004 a0001c0001t0006 a0001c0005t0004	a0001c0001t0004g0007 a0001c0001t0006g0007 a0001c0001t0006g0052 others(1): Show a0001c0001t0004g0007 a0001c0001t0006g0007 a0001c0001t0006g0052 a0001c0005t0004g0035	9	436	0.0206	23	c.15 others(34): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANK1_chr4_101785730_102079812	101947284	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	284	0.0035	23	c.120 others(44): Show c.1206+29095_1206+29096insTATATATATATATATATATATAT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16			chr4	TogoVar
BARD1_chr2_214720646_214814683	214751151	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0039 a0004c0007t0008g0039	1	362	0.0028	23	c.167 others(42): Show c.1677+1295_1677+1296insAAAAAAAAATATATATATATATA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02647.hp1 NA19001.hp2 others(1): Show HG02165.hp1 HG02647.hp1 NA19001.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0003c0008t0002 a0001c0001t0001 a0001c0001t0002 a0003c0008t0002	a0001c0001t0001g0002 a0001c0001t0002g0011 a0001c0001t0002g0017 others(1): Show a0001c0001t0001g0002 a0001c0001t0002g0011 a0001c0001t0002g0017 a0003c0008t0002g0065	4	446	0.0090	23	c.-23 others(34): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BARX1_chr9_93946627_93960355	93955408	C C	CCCGCCCC others(16): Show CCCGCCCCGCCCCGCCCCGCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG02809.hp1 HG01243.hp2 HG02572.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	408	0.0074	23	c.-26 others(32): Show c.-263_-262insCGGCGCGGGGCGGGGCGGGGCGG	BARX1	ENSG00000131668.14	transcript	ENST00000253968.11	protein_coding		54		chr9	TogoVar
BASP1_chr5_17212631_17281834	17212996	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	370	0.0027	23	c.-48 others(34): Show c.-4824_-4823insAAAAAAAAAAAAAAAAAAAAAAA	BASP1	ENSG00000176788.9	transcript	ENST00000322611.4	protein_coding		4634		chr5	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	462	0.0022	23	c.53 others(34): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34751700	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 NA21309.hp1 HG03492.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0005 a0002c0006t0002 a0001c0003t0005 a0002c0006t0002	a0001c0003t0005g0195 a0002c0006t0002g0055 a0001c0003t0005g0195 a0002c0006t0002g0055	2	380	0.0053	23	c.18 others(34): Show c.1807_*1808insTTTTTTTTTTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding		1030		chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34784367	C C	CCAAAAAA others(16): Show CCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0045 a0001c0004t0004g0045	1	380	0.0026	23	c.183 others(40): Show c.1832-441_1832-440insTTTTTTTTTTTTTTTTTTTTTTG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	14/26			chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73526868	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0197 a0001c0003t0006g0197	1	200	0.0050	23	c.-49 others(34): Show c.-4936_-4935insATATATATATATATATATTTTTT	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		4576		chr7	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03491.hp1 NA18950.hp2 others(3): Show HG02132.hp2 HG03491.hp1 NA18950.hp2 NA19001.hp1 NA19009.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0197 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0236	6	318	0.0189	23	c.220 others(38): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480350	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	398	0.0025	23	c.44 others(34): Show c.4410_*4411insTTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4034		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(16): Show CACAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA19062.hp1 HG02257.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0102 a0001c0001t0001g0009 a0001c0001t0001g0102	2	398	0.0050	23	c.44 others(34): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	398	0.0025	23	c.24+ others(38): Show c.24+2180_24+2181insTTTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18959.hp1 NA19085.hp2 others(1): Show NA18612.hp1 NA18959.hp1 NA19085.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0115 others(1): Show a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0136	4	398	0.0101	23	c.77- others(38): Show c.77-6897_77-6875dupTTTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33231428	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG03453.hp1 HG01891.hp2 HG02886.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0261	3	268	0.0112	23	c.443 others(42): Show c.443-25791_443-25790insTTTTTTTTTTTTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0176 a0001c0004t0030g0176	1	222	0.0045	23	c.235 others(42): Show c.2354-1186_2354-1185insTATATATATATATATATATATAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02258.hp1 HG02818.hp2 others(3): Show HG02027.hp1 HG02258.hp1 HG02818.hp2 HG03098.hp2 HG03540.hp2 NA18906.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0007 a0001c0017 others(1): Show a0001c0001 a0001c0007 a0001c0017 a0007c0008	a0001c0001t0008 a0001c0007t0015 a0001c0017t0016 others(3): Show a0001c0001t0008 a0001c0007t0015 a0001c0017t0016 a0001c0017t0043 a0007c0008t0010 a0007c0008t0016	a0001c0001t0008g0076 a0001c0007t0015g0319 a0001c0017t0016g0234 others(3): Show a0001c0001t0008g0076 a0001c0007t0015g0319 a0001c0017t0016g0234 a0001c0017t0043g0068 a0007c0008t0010g0205 a0007c0008t0016g0210	6	364	0.0165	23	c.143 others(42): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS4_chr20_50790061_50882177	50852576	T T	TTTGCCAT others(16): Show TTTGCCATGTTAGCCAGGCCGGTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp2 HG02630.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0077 a0001c0001t0001g0001 a0001c0001t0006g0077	2	270	0.0074	23	c.399 others(42): Show c.399+10680_399+10702dupCCATGTTAGCCAGGCCGGTCTTG	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCHE_chr3_165767904_165842423	165840286	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02602.hp2 others(2): Show HG01256.hp1 HG01258.hp2 HG02602.hp2 HG03654.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0002 a0002c0002t0004g0003	5	304	0.0165	23	c.-29 others(34): Show c.-2982_-2981insATCTATCTATCTATCTATCTATC	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding		2864		chr3	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)