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
ATP9B_chr18_79064394_79383283	79199588	C C	CCCCATCT others(26): Show CCCCATCTCTACTAAAAATACAAAAATTAGCTGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0273 a0001c0006t0004g0273	1	298	0.0034	33	c.954 others(50): Show c.954+6326_954+6358dupCCCATCTCTACTAAAAATACAAAAATTA GCTGG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115270253	T T	TATTTGTT others(26): Show TATTTGTTTATATATTATATATAAATATATAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0033 a0001c0001t0010g0034	2	128	0.0156	33	c.210 others(52): Show c.2100+1825_2100+1857dupATATATAAATATATAAACATTTGTTT ATATATT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0202 a0001c0007t0006g0202	1	220	0.0046	33	c.411 others(52): Show c.411-23145_411-23144insATATATATATATATATATATATATAT ATATTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0154 a0002c0004t0004g0154	1	220	0.0046	33	c.411 others(52): Show c.411-23145_411-23144insATATATATATATATATTTTTTTTTTT TTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	220	0.0046	33	c.346 others(50): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3613685	T T	TAGATTTT others(26): Show TAGATTTTAAAATTGAGATTCTCCTTTTTAAATG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0001 a0017c0032t0001	a0017c0032t0001g0195 a0017c0032t0001g0195	1	220	0.0046	33	c.380 others(52): Show c.3801+9434_3801+9435insTTGAGATTCTCCTTTTTAAATGAGAT TTTAAAA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	218	0.0046	33	c.455 others(50): Show c.4557+896_4557+897insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAATA others(26): Show CTATAATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	218	0.0046	33	c.-49 others(44): Show c.-4990_-4989insTATATATATATATATATATATATATATATTATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(26): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG03195.hp2 HG03225.hp2 others(2): Show HG02145.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03540.hp2	a0022 a0040 a0022 a0040	a0022c0020 a0040c0055 a0022c0020 a0040c0055	a0022c0020t0003 a0022c0020t0021 a0022c0020t0105 others(1): Show a0022c0020t0003 a0022c0020t0021 a0022c0020t0105 a0040c0055t0075	a0022c0020t0003g0393 a0022c0020t0021g0019 a0022c0020t0021g0025 others(2): Show a0022c0020t0003g0393 a0022c0020t0021g0019 a0022c0020t0021g0025 a0022c0020t0105g0024 a0040c0055t0075g0295	5	402	0.0124	33	c.915 others(40): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(46): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl n	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105727767	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	252	0.0040	33	c.355 others(52): Show c.355+60836_355+60837insTATATATATATATATATATATATATA TATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	76	0.0132	33	c.523 others(52): Show c.523-64576_523-64575insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	76	0.0132	33	c.691 others(54): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02559.hp2 HG02922.hp1 HG01496.hp2 HG02559.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0073 a0001c0001t0004g0147 a0001c0001t0004g0207 a0001c0001t0001g0073 a0001c0001t0004g0147 a0001c0001t0004g0207	3	266	0.0113	33	c.446 others(52): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	268	0.0037	33	c.-38 others(44): Show c.-3878_-3877insTATATATATATATATATATATATATATATTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	268	0.0037	33	c.-38 others(44): Show c.-3878_-3877insTATATATATATATATATATATATATTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	268	0.0037	33	c.-38 others(44): Show c.-3878_-3877insTATATATATATATATATATATATTTTTTTTTTT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding					3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18522.hp1 NA18944.hp1 HG03209.hp1 NA18522.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0119 a0001c0001t0004g0164 a0001c0001t0004g0032 a0001c0001t0004g0119 a0001c0001t0004g0164	3	268	0.0112	33	c.106 others(52): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATAT		B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14						chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82959021	G G	GTGTGTGT others(26): Show GTGTGTGTGTGTACACTGTGGGGGTGTATGGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp2 NA18522.hp2 HG02809.hp1 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0001 a0001c0001t0004 a0001c0006t0001	a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0006t0001g0017 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0006t0001g0017	3	266	0.0113	33	c.681 others(50): Show c.681-1528_681-1527insACACCATACACCCCCACAGTGTACACAC ACACA		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12						chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0108 a0002c0003t0012g0108	1	394	0.0025	33	c.170 others(52): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374808	A A	AAGGGAGG others(26): Show AAGGGAGGGAGGGAGGAGAGGGAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	184	0.0054	33	c.784 others(48): Show c.784-642_784-641insGAGGAGAGGGAGGGAGGAAGGGAGGGAGGG AGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	158	0.0063	33	c.680 others(52): Show c.680+47216_680+47217insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196321	C C	CGTCTCAA others(26): Show CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	158	0.0063	33	c.681 others(52): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAA		BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11						chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	272	0.0037	33	c.312 others(50): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8						chr21	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0066 a0001c0001t0117g0066	1	194	0.0052	33	c.-16 others(52): Show c.-161-3183_-161-3182insATATATATATATATATATATATATAT TTTTTTT		BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8						chr6	TogoVar
BAG1_chr9_33247471_33269708	33251886	G G	GAGAAGGG others(26): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG03453.hp1 others(1): Show HG02258.hp2 HG02615.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 a0001c0001t0001 a0001c0001t0007 a0001c0001t0020	a0001c0001t0001g0001 a0001c0001t0007g0015 a0001c0001t0020g0049 others(1): Show a0001c0001t0001g0001 a0001c0001t0007g0015 a0001c0001t0020g0049 a0001c0001t0020g0050	4	348	0.0115	33	c.33 others(44): Show c.3300_*3332dupTCTCCCGTGAGAAGGGGAGAGAGCACCCCTTCT		BAG1	ENSG00000107262.26	transcript	ENST00000634734.3	protein_coding					584		chr9	TogoVar
BAG3_chr10_119646380_119682819	119675867	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0233 a0001c0001t0011g0233	1	420	0.0024	33	c.910 others(48): Show c.910-597_910-596insCCTTCCTTCCTTCCTTCCCCCCTTCCCCTT TTC		BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3						chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	298	0.0034	33	c.128 others(50): Show c.128-1893_128-1892insATATATATATATATATATTTTTTTTTTT TTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0295 a0003c0010t0003g0295	1	298	0.0034	33	c.128 others(50): Show c.128-1893_128-1892insATATATATATATATATATATATATTTTT TTTTT		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13						chr7	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(26): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01975.hp1 NA18943.hp2 others(2): Show HG00558.hp1 HG01975.hp1 NA18943.hp2 NA18971.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0002g0011 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0002g0011 a0001c0001t0002g0029	5	446	0.0112	33	c.-23 others(44): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding					2203		chr1	TogoVar
BBS10_chr12_76339474_76353415	76351359	C C	CTACTCAT others(26): Show CTACTCATTAAAACACGAACACACTACAACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	416	0.0024	33	c.-30 others(44): Show c.-3002_-3001insTTGTGTTGTAGTGTGTTCGTGTTTTAATGAGTA		BBS10	ENSG00000179941.9	transcript	ENST00000650064.2	protein_coding					2945		chr12	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	222	0.0045	33	c.235 others(52): Show c.2354-1186_2354-1185insTATATATATATATATATATATATATA TATATAT		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17						chr3	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(26): Show ACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp2 NA18945.hp2 HG01109.hp2 HG01256.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0114 a0001c0001t0001g0338 a0001c0001t0003g0227 a0001c0001t0001g0114 a0001c0001t0001g0338 a0001c0001t0003g0227	3	398	0.0075	33	c.194 others(50): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACC		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591657	C C	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	398	0.0025	33	c.194 others(50): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACA		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7						chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599262	A A	ATATATAT others(26): Show ATATATATATTTATATATAAATATATATAATTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	398	0.0025	33	c.481 others(50): Show c.481-1116_481-1115insATATATATAATTTTTATATATATTTATA TATAA		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	61045871	A A	AAATATAT others(26): Show AAATATATATATATAAATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0019 a0002c0005t0001g0020	2	74	0.0270	33	c.202 others(52): Show c.2029+4979_2029+4980insAATATATATATATAAATATATATTTA TATATAT		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23						chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467129	A A	ATGGTGGT others(26): Show ATGGTGGTGGTGGTGGTGATGATGGTGGTGGTAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00738.hp1 others(29): Show HG00423.hp2 HG00544.hp2 HG00738.hp1 HG01071.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02293.hp1 HG02615.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03490.hp2 HG03654.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp1 NA18957.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0049 a0001c0001t0055 a0001c0001t0061 a0001c0003t0002 a0001c0003t0003 a0001c0003t0041	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0002g0141 others(29): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0002g0141 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0170 a0001c0001t0003g0183 a0001c0001t0003g0187 a0001c0001t0004g0074 a0001c0001t0004g0087 a0001c0001t0006g0242 a0001c0001t0006g0246 a0001c0001t0008g0134 a0001c0001t0008g0137 a0001c0001t0009g0195 a0001c0001t0009g0197 a0001c0001t0013g0252 a0001c0001t0019g0013 a0001c0001t0049g0165 a0001c0001t0055g0202 a0001c0001t0061g0212 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0131 a0001c0003t0002g0143 a0001c0003t0003g0155 a0001c0003t0003g0164 a0001c0003t0003g0184 a0001c0003t0041g0135	32	262	0.1221	33	c.487 others(50): Show c.487+1602_487+1603insCTACCACCACCATCATCACCACCACCAC CACCA		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467666	C C	CTGGTGGT others(26): Show CTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0196 a0001c0001t0056g0196	1	262	0.0038	33	c.487 others(50): Show c.487+1033_487+1065dupTCACCACCACCACCACCATCACCATCAC CACCA		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467822	A A	ATGGTGGT others(26): Show ATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18971.hp2 HG00544.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0119 a0001c0001t0006g0240 a0001c0001t0002g0119 a0001c0001t0006g0240	2	262	0.0076	33	c.487 others(48): Show c.487+909_487+910insCCATTACCACCACCATCACTACCACCACCA CCA		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19089.hp2 NA19060.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0020 a0002c0002t0001g0006 a0002c0002t0001g0020	2	458	0.0044	33	c.-43 others(44): Show c.-4377_-4376insAAAAAAATATATATATATATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 NA18984.hp1 HG03688.hp2 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	458	0.0044	33	c.-43 others(44): Show c.-4377_-4376insAAAAAAAAATATATATATATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	458	0.0022	33	c.-43 others(44): Show c.-4377_-4376insAAAAAAAAAAAAAAATATATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	458	0.0022	33	c.-43 others(44): Show c.-4377_-4376insAAAAAAAAAAAAAAAAATATATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(26): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	458	0.0022	33	c.-43 others(44): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAATATATATATATA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(26): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0229 a0001c0001t0026g0231 a0001c0001t0026g0229 a0001c0001t0026g0231	2	398	0.0050	33	c.-21 others(42): Show c.-218_-217insTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC		BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4				2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(26): Show TGCCGCTGCCGCTGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0167 a0001c0001t0068g0167	1	398	0.0025	33	c.-21 others(42): Show c.-218_-217insTGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGC		BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4				2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0090 a0004c0006t0001g0090	1	306	0.0033	33	c.601 others(50): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCLAF1_chr6_136251627_136294846	136287582	A A	ATTCAGCT others(26): Show ATTCAGCTAGTGTGCAACTACTGATTTCCAACGT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	310	0.0032	33	c.-11 others(52): Show c.-115+2098_-115+2130dupACGTTGGAAATCAGTAGTTGCACACT AGCTGAA		BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	1/12						chr6	TogoVar
BCOR_chrX_40046251_40102958	40100997	G G	GTCCTAAG others(26): Show GTCCTAAGAGGCATGAGTGGTGGGGGGGATTCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	257	0.0039	33	c.-38 others(44): Show c.-3856_-3824dupACGAATCCCCCCCACCACTCATGCCTCTTAGGA		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					3040		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGGTGTGT others(26): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0116 a0001c0001t0083g0116	1	319	0.0031	33	c.12 others(44): Show c.1295_*1296insACACACACACACACACACACACACACACACACC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197513362	A A	ACTCAGCC others(26): Show ACTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	319	0.0031	33	c.562 others(48): Show c.562+901_562+902insGGCCCTCCCGGGGGCACACCTGGATGGGCT GAG		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	7/7						chr3	TogoVar

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Search Results (Total: 4928 hits)