JoGo: Joint Open Genome and Omics Platform

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02486.hp2 NA18972.hp2 others(1): Show HG01175.hp2 HG02486.hp2 NA18972.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0111 a0001c0002t0001g0219 others(1): Show a0001c0002t0001g0034 a0001c0002t0001g0111 a0001c0002t0001g0219 a0001c0002t0001g0304	4	316	0.0127	42	c.117 others(61): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	316	0.0032	42	c.117 others(61): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	316	0.0032	42	c.117 others(61): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(35): Show AAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	402	0.0025	42	c.131 others(61): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT ATATATATTTTTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP58_chr10_104348833_104460102	104357966	T T	TACACATA others(35): Show TACACATATGTACATATGTACACATATATGTACACATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG03130.hp1 others(1): Show HG02280.hp2 HG02559.hp1 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0003t0002g0122	4	308	0.0130	42	c.10- others(55): Show c.10-371_10-330dupCATATGTACATATGTACACATATATGTACACA TATATACACA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20357912	A A	AGTGTGAG others(35): Show AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18969.hp1 NA19090.hp1 NA18955.hp1 NA18969.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012	3	236	0.0127	42	c.351 others(61): Show c.3514-2298_3514-2297insGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCATAGT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(35): Show ATATATATATATATATATATATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	392	0.0026	42	c.28 others(53): Show c.2882_*2883insTATATATATATATATATATATATGTATGTATGTA TATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	314	0.0032	42	c.651 others(61): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(35): Show TAATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	354	0.0028	42	c.58- others(59): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TATATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp2 HG01168.hp2 others(9): Show HG00733.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG02886.hp1 HG03710.hp1 NA18945.hp2 NA18950.hp1 NA18959.hp2 NA18963.hp2 NA19002.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0035 a0001c0002t0001g0059 others(8): Show a0001c0002t0001g0001 a0001c0002t0001g0035 a0001c0002t0001g0059 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0144 a0001c0002t0001g0173 a0001c0002t0001g0272	12	354	0.0339	42	c.58- others(59): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFTR_chr7_117475025_117673665	117612045	A A	ATATATAT others(35): Show ATATATATATGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	202	0.0050	42	c.336 others(59): Show c.3367+245_3367+246insTGTATATATATATATATATATATATATA TATATGTATATATA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	216	0.0046	42	c.412 others(61): Show c.412-28066_412-28065insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(35): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18963.hp2 HG02165.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0013 a0001c0001t0004g0144 a0001c0001t0001g0013 a0001c0001t0004g0144	2	366	0.0055	42	c.-36 others(53): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD5_chr1_6096787_6185321	6155152	A A	ACCCCAGC others(35): Show ACCCCAGCTTCCTGTCCACACCCACAGCCCACCCCCAAAACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0091 a0002c0002t0009g0091	1	320	0.0031	42	c.507 others(57): Show c.507-255_507-254insGTGTTTTGGGGGTGGGCTGTGGGTGTGGAC AGGAAGCTGGGG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	4/41			chr1	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(35): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0044 a0001c0001t0048g0044	1	236	0.0042	42	c.-46 others(51): Show c.-467_-466insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(35): Show GTATGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG06807.hp1 HG02559.hp1 HG03516.hp2 HG06807.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0009 a0001c0001 a0001c0003 a0006c0009	a0001c0001t0003 a0001c0003t0002 a0006c0009t0004 a0001c0001t0003 a0001c0003t0002 a0006c0009t0004	a0001c0001t0003g0167 a0001c0003t0002g0170 a0006c0009t0004g0107 a0001c0001t0003g0167 a0001c0003t0002g0170 a0006c0009t0004g0107	3	238	0.0126	42	c.-16 others(61): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT ATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTATAT others(35): Show GTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20129.hp1 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0226 a0001c0001t0003g0227	2	238	0.0084	42	c.-16 others(61): Show c.-164-9506_-164-9505insGTATATATATATATATATATATATAT ATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89639870	T T	TTTCACCA others(35): Show TTTCACCATGTTGGCCAGGCTGGTTTCCAACCCCGACCTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	392	0.0026	42	c.61 others(53): Show c.6195_*6196insCCTGAGGTCGGGGTTGGAAACCAGCCTGGCCAAC ATGGTGAA	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding		4564		chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647530	T T	TGCGGGGT others(35): Show TGCGGGGTCAGTGGAGAAAAGGCCGCCGACGCGGAGACCCAGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01081.hp2 others(6): Show HG00642.hp2 HG00733.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp2 HG01346.hp2 HG01517.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0058 a0001c0001t0003g0062 others(5): Show a0001c0001t0003g0007 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0082 a0001c0001t0003g0121	9	392	0.0230	42	c.253 others(57): Show c.253-200_253-199insGCTGGGTCTCCGCGTCGGCGGCCTTTTCTC CACTGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647530	T T	TGCGGGGT others(35): Show TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG03453.hp2 others(2): Show HG02486.hp2 HG03098.hp2 HG03453.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0222 a0001c0001t0005g0223 others(2): Show a0001c0001t0005g0130 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0226	5	392	0.0128	42	c.253 others(57): Show c.253-200_253-199insGCTGGGTGTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647530	T T	TGCGGGGT others(35): Show TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	392	0.0026	42	c.253 others(57): Show c.253-200_253-199insGCTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647546	A A	AAAAGGCC others(35): Show AAAAGGCCGCCGACGCCGGAGACCCAGCGCGGGGTCAGTGGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	392	0.0026	42	c.253 others(57): Show c.253-216_253-215insCTCCACTGACCCCGCGCTGGGTCTCCGGCG TCGGCGGCCTTT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647581	A A	AGTGGAGA others(35): Show AGTGGAGAAAAGGCCGCCGATGTGGAGACCCAGTGCGGGGTCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03654.hp1 HG02145.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0193 a0001c0001t0001g0206	2	392	0.0051	42	c.253 others(57): Show c.253-251_253-250insCGACCCCGCACTGGGTCTCCACATCGGCGG CCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647606	A A	AGACCCAG others(35): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	392	0.0026	42	c.253 others(57): Show c.253-276_253-275insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647606	A A	AGACCCAG others(35): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCTGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	392	0.0026	42	c.253 others(57): Show c.253-276_253-275insCCCACGTCGGCAGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647648	G G	GGACCCAG others(35): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04204.hp1 HG02602.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0172 a0001c0001t0001g0173	2	392	0.0051	42	c.253 others(57): Show c.253-318_253-317insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647648	G G	GGACCCAG others(35): Show GGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01261.hp1 others(31): Show HG00438.hp1 HG00673.hp2 HG01261.hp1 HG01361.hp2 HG01975.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG02602.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG03098.hp1 HG03130.hp2 HG03927.hp1 HG04199.hp2 NA18942.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19056.hp1 NA19064.hp1 NA19070.hp1 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0017g0181	34	392	0.0867	42	c.253 others(57): Show c.253-318_253-317insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647649	G G	GACCCAGT others(35): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02135.hp2 NA18963.hp1 others(8): Show HG00597.hp2 HG02135.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18983.hp2 NA18994.hp1 NA18998.hp2 NA19067.hp2 NA19070.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0258 a0001c0001t0002g0236 a0001c0001t0002g0248 others(8): Show a0001c0001t0001g0258 a0001c0001t0002g0236 a0001c0001t0002g0248 a0001c0001t0002g0253 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0002g0304	11	392	0.0281	42	c.253 others(57): Show c.253-319_253-318insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647707	G G	GGTGGAGA others(35): Show GGTGGAGAAAAGGCCGCCGACGGGGAGACCCAGCGCGGGGTCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	392	0.0026	42	c.253 others(57): Show c.253-377_253-376insTGACCCCGCGCTGGGTCTCCCCGTCGGCGG CCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647732	G G	GGACCCAG others(35): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	392	0.0026	42	c.253 others(57): Show c.253-402_253-401insTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647733	G G	GACCCAGT others(35): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18942.hp1 NA18947.hp2 others(3): Show HG02040.hp2 NA18942.hp1 NA18947.hp2 NA19004.hp2 NA19077.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0266 others(3): Show a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0266 a0001c0001t0002g0283 a0001c0001t0002g0290 a0001c0001t0002g0302	6	392	0.0153	42	c.253 others(57): Show c.253-403_253-402insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647798	A A	AAAAGGCC others(35): Show AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	392	0.0026	42	c.253 others(57): Show c.253-468_253-467insGCTCCACCGACCCCGCGCTGGGTCTCCACG TCGGCGGCCTTT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647858	A A	AGACCCAG others(35): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0165 a0001c0001t0009g0165	1	392	0.0026	42	c.253 others(57): Show c.253-528_253-527insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647858	A A	AGACCCAG others(35): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0136 a0001c0001t0006g0136	1	392	0.0026	42	c.253 others(57): Show c.253-528_253-527insCCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647917	G G	GGTGGAGA others(35): Show GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	392	0.0026	42	c.253 others(57): Show c.253-587_253-586insGGACCCCGCACTGGGTCTCCACGTCGGCGG CCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647942	G G	GGACCCAG others(35): Show GGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	392	0.0026	42	c.253 others(57): Show c.253-612_253-611insTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647959	G G	GGTGGAGA others(35): Show GGTGGAGAAAAGGCGGCCGACGTGGACACCCAGCGCGGGGTCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	392	0.0026	42	c.253 others(57): Show c.253-629_253-628insGGACCCCGCGCTGGGTGTCCACGTCGGCCG CCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648034	C C	CGCGGGGT others(35): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	392	0.0026	42	c.253 others(57): Show c.253-704_253-703insACTGGGTGTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648043	G G	GGTGGAGA others(35): Show GGTGGAGAAAAGGCGGCCGACGTGGACACCCAGCGCGGGGTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	392	0.0026	42	c.253 others(57): Show c.253-713_253-712insGGACCCCGCGCTGGGTGTCCACGTCGGCCG CCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648068	G G	GGACCCAG others(35): Show GGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	392	0.0026	42	c.253 others(57): Show c.253-738_253-737insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648085	G G	GGTGGAGA others(35): Show GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0227 a0001c0001t0005g0227	1	392	0.0026	42	c.253 others(57): Show c.253-755_253-754insGGACCCCGCACTGGGTCTCCACGTCGGCGG CCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648110	G G	AGACCCAG others(35): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0227 a0001c0001t0005g0227	1	392	0.0026	42	c.253 others(57): Show c.253-779_253-778insCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCACTGGGTCT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648152	A A	AGACCCAG others(35): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02970.hp1 HG01192.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0015 a0001c0001t0006g0136 a0001c0001t0001g0015 a0001c0001t0006g0136	2	392	0.0051	42	c.253 others(57): Show c.253-822_253-821insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648183	C C	CGCCGACG others(35): Show CGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	392	0.0026	42	c.253 others(57): Show c.253-853_253-852insCGCCTTTTCTCCACGGACCCCGCGCTGGGT CTCCACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648194	A A	AGACCCAG others(35): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0030 a0001c0001t0014g0030	1	392	0.0026	42	c.253 others(57): Show c.253-864_253-863insCCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648236	A A	AGACCCAG others(35): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	392	0.0026	42	c.253 others(57): Show c.253-906_253-905insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648253	G G	GGTGGAGA others(35): Show GGTGGAGAAAAGGCGGCCGACGTGGACACCCAGCGCGGGGTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0354 a0001c0001t0021g0354	1	392	0.0026	42	c.253 others(57): Show c.253-923_253-922insGGACCCCGCGCTGGGTGTCCACGTCGGCCG CCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648286	C C	CGCGGGGT others(35): Show CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0136 a0001c0001t0006g0136	1	392	0.0026	42	c.253 others(57): Show c.253-956_253-955insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648295	G G	GGTGGAGA others(35): Show GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG03453.hp2 others(2): Show HG02486.hp2 HG03098.hp2 HG03453.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0222 a0001c0001t0005g0223 others(2): Show a0001c0001t0005g0130 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0226	5	392	0.0128	42	c.253 others(57): Show c.253-965_253-964insGGACCCCGCGCTGGGTGTCCACGTCGGCGG CCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648328	C C	CGCGGGGT others(35): Show CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	392	0.0026	42	c.253 others(57): Show c.253-998_253-997insACTGGGTCCCCACGTCGGCCGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar

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Search Results (Total: 5093 hits)