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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CFDP1_chr16_75288710_75438503	75410055	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	314	0.0032	-14	c.530 others(31): Show c.530+1756_530+1769delTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	4/6			chr16	TogoVar
CFHR1_chr1_196814731_196837189	196823091	ATATATAT others(7): Show ATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	275	0.0036	-14	c.59- others(29): Show c.59-2384_59-2371delATATATATATGTGT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR1_chr1_196814731_196837189	196823093	ATATATAT others(7): Show ATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG04184.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 a0001c0002 a0001c0003 a0001c0011	a0001c0002t0002 a0001c0003t0002 a0001c0011t0001 a0001c0002t0002 a0001c0003t0002 a0001c0011t0001	a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0009 others(49): Show a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0003t0002g0004 a0001c0003t0002g0012 a0001c0003t0002g0017 a0001c0003t0002g0024 a0001c0003t0002g0038 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0011t0001g0048	115	275	0.4182	-14	c.59- others(29): Show c.59-2382_59-2369delATATATATGTGTGT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR1_chr1_196814731_196837189	196824748	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0064 a0002c0001t0001g0064	1	275	0.0036	-14	c.59- others(27): Show c.59-709_59-696delATATATATATATAT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196773679	TATATATA others(7): Show TATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18991.hp2 NA19030.hp2 NA18964.hp1 NA18991.hp2 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0003 a0002c0001t0002 a0002c0001t0003	a0002c0001t0002g0023 a0002c0001t0003g0026 a0002c0001t0002g0023 a0002c0001t0003g0026	3	261	0.0115	-14	c.-12 others(25): Show c.-1207_-1194delATATATATATATAC	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		1160		chr1	TogoVar
CFHR5_chr1_196972556_197014678	196999720	TATACACA others(7): Show TATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01256.hp1 HG01952.hp1 others(9): Show HG00423.hp2 HG01256.hp1 HG01952.hp1 HG02735.hp1 HG03490.hp1 HG04204.hp1 NA18966.hp1 NA18967.hp2 NA18978.hp2 NA18984.hp1 NA19003.hp2 NA19086.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0015 a0001c0001 a0010c0015	a0001c0001t0001 a0010c0015t0001 a0001c0001t0001 a0010c0015t0001	a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0080 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0010c0015t0001g0011	12	356	0.0337	-14	c.114 others(33): Show c.1147+1420_1147+1433delCACACACACACATA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714664	TATATAGA others(7): Show TATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0150 a0003c0003t0001g0150	1	308	0.0033	-14	c.151 others(31): Show c.1519+749_1519+762delTATAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109753404	TTTATTAT others(7): Show TTTATTATATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	354	0.0028	-14	c.905 others(29): Show c.905-915_905-902delTATTTATATAATAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753493	TTTATAAT others(7): Show TTTATAATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02280.hp1 others(1): Show HG00735.hp2 HG02055.hp1 HG02280.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 others(1): Show a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181	4	354	0.0113	-14	c.905 others(30): Show c.905-1004_905-991delTAAATATATTATAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756880	GAAAGAAA others(7): Show GAAAGAAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	354	0.0028	-14	c.904 others(29): Show c.904+869_904+882delTCTTTCCTTTCTTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756889	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	354	0.0028	-14	c.904 others(29): Show c.904+860_904+873delTTCTTTCTTTCTTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201123023	GCTGAGCA others(7): Show GCTGAGCAAGTATAC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0062 a0001c0001t0132g0062	1	234	0.0043	-14	c.-13 others(33): Show c.-138+6546_-138+6559delAGCAAGTATACCTG	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFTR_chr7_117475025_117673665	117500278	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01433.hp2 others(15): Show HG01071.hp2 HG01074.hp2 HG01433.hp2 HG01516.hp2 HG02280.hp1 HG02630.hp2 HG02683.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0007c0024	a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0001c0006t0003 a0001c0006t0006 a0007c0024t0003	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0151 others(15): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0151 a0001c0001t0004g0009 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0008 a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 a0001c0006t0003g0015 a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 a0007c0024t0003g0148	18	202	0.0891	-14	c.54- others(29): Show c.54-3963_54-3950delTTTTTTTTTTTTTT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117525784	GTGAGATG others(7): Show GTGAGATGGGTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp2 HG02109.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0017 a0001c0004t0002g0016 a0001c0004t0001g0017 a0001c0004t0002g0016	2	202	0.0099	-14	c.274 others(31): Show c.274-5111_274-5098delGATGGGTTTCCTGA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117557545	TTTGCTTC others(7): Show TTTGCTTCAAGAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00609.hp2 HG00642.hp1 HG01071.hp2 HG01074.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02523.hp1 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18947.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18978.hp1 NA18982.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(5): Show a0001 a0004 a0007 a0008 a0010 a0011 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0017 a0001c0019 a0004c0026 a0004c0027 a0007c0024 a0008c0014 a0010c0018 a0011c0016 a0015c0012 a0016c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0003 a0001c0005t0006 a0001c0006t0003 a0001c0006t0006 a0001c0017t0001 a0001c0019t0003 a0004c0026t0002 a0004c0027t0001 a0007c0024t0003 a0008c0014t0002 a0010c0018t0005 a0011c0016t0002 a0015c0012t0002 a0016c0028t0002	a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(71): Show a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0151 a0001c0001t0002g0199 a0001c0001t0004g0009 a0001c0001t0005g0019 a0001c0001t0005g0025 a0001c0001t0005g0047 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0007g0060 a0001c0001t0009g0052 a0001c0001t0011g0049 a0001c0003t0003g0021 a0001c0003t0003g0026 a0001c0003t0003g0040 a0001c0003t0003g0048 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0002 a0001c0004t0002g0008 a0001c0004t0003g0191 a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0156 a0001c0005t0006g0038 a0001c0006t0003g0015 a0001c0006t0003g0193 a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 a0001c0017t0001g0064 a0001c0019t0003g0192 a0004c0026t0002g0037 a0004c0027t0001g0061 a0007c0024t0003g0148 a0008c0014t0002g0027 a0010c0018t0005g0028 a0011c0016t0002g0201 a0015c0012t0002g0033 a0016c0028t0002g0031	74	202	0.3663	-14	c.139 others(33): Show c.1393-1912_1393-1899delCAAGAATATTGCTT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612009	ATATATAT others(7): Show ATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02258.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0019 a0001c0006 a0001c0019	a0001c0006t0003 a0001c0019t0003 a0001c0006t0003 a0001c0019t0003	a0001c0006t0003g0193 a0001c0019t0003g0192 a0001c0006t0003g0193 a0001c0019t0003g0192	2	202	0.0099	-14	c.336 others(31): Show c.3367+215_3367+228delGTATATATATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGNL1_chr15_57371505_57555717	57374538	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG01891.hp2 others(2): Show HG01346.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG03195.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0010	a0001c0001 a0002c0002 a0006c0007 others(2): Show a0001c0001 a0002c0002 a0006c0007 a0007c0009 a0010c0013	a0001c0001t0001 a0002c0002t0029 a0006c0007t0009 others(2): Show a0001c0001t0001 a0002c0002t0029 a0006c0007t0009 a0007c0009t0039 a0010c0013t0006	a0001c0001t0001g0129 a0002c0002t0029g0285 a0006c0007t0009g0288 others(2): Show a0001c0001t0001g0129 a0002c0002t0029g0285 a0006c0007t0009g0288 a0007c0009t0039g0286 a0010c0013t0006g0287	5	294	0.0170	-14	c.-20 others(25): Show c.-2044_-2031delTGTGTGTGTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding		1966		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57383612	TTTTCTTT others(7): Show TTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02055.hp2 others(9): Show HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02896.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA20300.hp2	a0002 a0005 a0006 others(5): Show a0002 a0005 a0006 a0007 a0010 a0011 a0014 a0028	a0002c0002 a0005c0006 a0006c0007 others(5): Show a0002c0002 a0005c0006 a0006c0007 a0007c0009 a0010c0013 a0011c0012 a0014c0016 a0028c0021	a0002c0002t0003 a0002c0002t0007 a0002c0002t0029 others(9): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0029 a0002c0002t0042 a0005c0006t0008 a0006c0007t0009 a0007c0009t0039 a0010c0013t0006 a0011c0012t0043 a0014c0016t0001 a0014c0016t0004 a0028c0021t0008	a0002c0002t0003g0266 a0002c0002t0007g0006 a0002c0002t0029g0285 others(9): Show a0002c0002t0003g0266 a0002c0002t0007g0006 a0002c0002t0029g0285 a0002c0002t0042g0005 a0005c0006t0008g0004 a0006c0007t0009g0288 a0007c0009t0039g0286 a0010c0013t0006g0287 a0011c0012t0043g0010 a0014c0016t0001g0008 a0014c0016t0004g0009 a0028c0021t0008g0007	12	294	0.0408	-14	c.-16 others(31): Show c.-16+7049_-16+7062delCTTTTCTTTTCTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57383617	TTTTCTTT others(7): Show TTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0034 a0003c0003t0002g0034	1	294	0.0034	-14	c.-16 others(31): Show c.-16+7054_-16+7067delCTTTTCTTTTCTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57405806	CTTTCCTT others(7): Show CTTTCCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG03195.hp1 HG01884.hp2 HG02451.hp1 HG03195.hp1	a0007 a0010 a0007 a0010	a0007c0009 a0010c0013 a0007c0009 a0010c0013	a0007c0009t0039 a0010c0013t0006 a0010c0013t0023 a0007c0009t0039 a0010c0013t0006 a0010c0013t0023	a0007c0009t0039g0286 a0010c0013t0006g0287 a0010c0013t0023g0051 a0007c0009t0039g0286 a0010c0013t0006g0287 a0010c0013t0023g0051	3	294	0.0102	-14	c.-16 others(33): Show c.-16+29241_-16+29254delTTCCTTCTTTCTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57413179	TTCTTTCT others(7): Show TTCTTTCTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01975.hp1 HG01978.hp2 others(2): Show HG01496.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0225 a0001c0001t0002g0240 a0002c0002t0003g0183 others(2): Show a0001c0001t0002g0225 a0001c0001t0002g0240 a0002c0002t0003g0183 a0002c0002t0003g0193 a0002c0002t0003g0194	5	294	0.0170	-14	c.-15 others(33): Show c.-15-24788_-15-24775delTTCTCTCTTTCTCT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57437619	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0285 a0002c0002t0029g0285	1	294	0.0034	-14	c.-15 others(29): Show c.-15-349_-15-336delAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57437699	TACGCCAA others(7): Show TACGCCAAAAGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0205 a0004c0004t0001g0205	1	294	0.0034	-14	c.-15 others(29): Show c.-15-284_-15-271delCGCCAAAAGTGTCA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57447805	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG01109.hp2 others(56): Show HG00423.hp2 HG00735.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01496.hp1 HG01978.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18951.hp1 NA18951.hp2 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19043.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0024	a0001c0001 a0001c0015 a0001c0039 others(10): Show a0001c0001 a0001c0015 a0001c0039 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0009 a0009c0037 a0010c0013 a0011c0012 a0024c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0015t0001 a0001c0039t0010 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0034 a0002c0002t0037 a0003c0003t0001 a0003c0003t0002 a0003c0003t0015 a0004c0004t0001 a0004c0004t0004 a0005c0006t0008 a0006c0007t0005 a0007c0009t0003 a0009c0037t0006 a0010c0013t0009 a0011c0012t0020 a0011c0012t0043 a0024c0024t0002	a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0087 others(56): Show a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0002g0149 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0240 a0001c0001t0004g0029 a0001c0001t0004g0043 a0001c0001t0004g0047 a0001c0001t0004g0091 a0001c0001t0004g0124 a0001c0001t0004g0146 a0001c0001t0004g0163 a0001c0001t0010g0054 a0001c0001t0010g0275 a0001c0001t0021g0116 a0001c0015t0001g0018 a0001c0039t0010g0046 a0002c0002t0003g0183 a0002c0002t0003g0194 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0007g0055 a0002c0002t0007g0058 a0002c0002t0007g0099 a0002c0002t0008g0023 a0002c0002t0008g0273 a0002c0002t0012g0263 a0002c0002t0013g0114 a0002c0002t0013g0269 a0002c0002t0013g0271 a0002c0002t0014g0040 a0002c0002t0034g0090 a0002c0002t0037g0161 a0003c0003t0001g0162 a0003c0003t0002g0172 a0003c0003t0015g0170 a0004c0004t0001g0011 a0004c0004t0001g0115 a0004c0004t0004g0077 a0004c0004t0004g0145 a0004c0004t0004g0171 a0005c0006t0008g0004 a0006c0007t0005g0027 a0007c0009t0003g0076 a0009c0037t0006g0028 a0010c0013t0009g0012 a0011c0012t0020g0024 a0011c0012t0043g0010 a0024c0024t0002g0111	59	294	0.2007	-14	c.180 others(33): Show c.1804-3668_1804-3655delGTGTGTGTGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57475492	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02717.hp1 others(1): Show HG02572.hp2 HG02647.hp2 HG02717.hp1 HG03579.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0010 a0002c0002t0014 a0008c0010t0028 a0001c0001t0010 a0002c0002t0014 a0008c0010t0028	a0001c0001t0010g0275 a0002c0002t0014g0121 a0002c0002t0014g0153 others(1): Show a0001c0001t0010g0275 a0002c0002t0014g0121 a0002c0002t0014g0153 a0008c0010t0028g0052	4	294	0.0136	-14	c.240 others(35): Show c.2403+13631_2403+13644delGTGTGTGTGTGTGT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57513282	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02559.hp1 others(11): Show HG01243.hp1 HG01884.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG03139.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA19240.hp1	a0001 a0006 a0008 others(2): Show a0001 a0006 a0008 a0010 a0019	a0001c0001 a0001c0039 a0006c0007 others(3): Show a0001c0001 a0001c0039 a0006c0007 a0008c0010 a0010c0013 a0019c0030	a0001c0001t0002 a0001c0039t0010 a0006c0007t0005 others(4): Show a0001c0001t0002 a0001c0039t0010 a0006c0007t0005 a0008c0010t0005 a0008c0010t0028 a0010c0013t0006 a0019c0030t0005	a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0039t0010g0046 others(11): Show a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0039t0010g0046 a0006c0007t0005g0056 a0006c0007t0005g0125 a0006c0007t0005g0142 a0006c0007t0005g0164 a0008c0010t0005g0048 a0008c0010t0005g0094 a0008c0010t0005g0140 a0008c0010t0005g0276 a0008c0010t0028g0052 a0010c0013t0006g0287 a0019c0030t0005g0293	14	294	0.0476	-14	c.240 others(33): Show c.2404-3491_2404-3478delTGTGTGTTTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57529559	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03139.hp2 NA18948.hp1 others(1): Show HG00323.hp2 HG03139.hp2 NA18948.hp1 NA19079.hp1	a0003 a0014 a0003 a0014	a0003c0003 a0014c0016 a0003c0003 a0014c0016	a0003c0003t0002 a0003c0003t0015 a0014c0016t0001 a0003c0003t0002 a0003c0003t0015 a0014c0016t0001	a0003c0003t0002g0034 a0003c0003t0015g0072 a0003c0003t0015g0170 others(1): Show a0003c0003t0002g0034 a0003c0003t0015g0072 a0003c0003t0015g0170 a0014c0016t0001g0008	4	294	0.0136	-14	c.320 others(31): Show c.3201+781_3201+794delACACACACACACAC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01074.hp2 others(10): Show HG00140.hp1 HG00733.hp2 HG01074.hp2 HG01167.hp1 HG01515.hp1 HG01517.hp1 HG02572.hp1 HG02622.hp1 HG03130.hp1 HG03453.hp1 HG03834.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007	a0001c0001t0001g0179 a0001c0002t0002g0007 a0001c0002t0002g0037 others(7): Show a0001c0001t0001g0179 a0001c0002t0002g0007 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0005g0010 a0001c0002t0007g0006 a0001c0002t0007g0032	13	352	0.0369	-14	c.-12 others(31): Show c.-12+1961_-12+1974delGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAC1_chr15_40948471_40961512	40951595	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	-14	c.-19 others(25): Show c.-1988_-1975delAAAAAAAAAAAAAA	CHAC1	ENSG00000128965.13	transcript	ENST00000617768.5	protein_coding		1875		chr15	TogoVar
CHADL_chr22_41224513_41245931	41242143	CATATATA others(7): Show CATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01515.hp1 others(8): Show HG00735.hp2 HG01106.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG02257.hp2 HG03017.hp2 NA19007.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0001g0174	11	414	0.0266	-14	c.-12 others(25): Show c.-1276_-1263delATATATATATATAT	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding		1213		chr22	TogoVar
CHAF1B_chr21_36380392_36424015	36382534	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG01358.hp2 others(6): Show HG00733.hp2 HG01109.hp2 HG01358.hp2 HG01934.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0025 others(1): Show a0001c0001t0005 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026	a0001c0001t0005g0304 a0001c0001t0005g0314 a0001c0001t0005g0315 others(6): Show a0001c0001t0005g0304 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0319 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0024g0305 a0001c0001t0025g0052 a0001c0001t0026g0051	9	346	0.0260	-14	c.-29 others(25): Show c.-2994_-2981delTTTCTTTTTTTTTT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding		2857		chr21	TogoVar
CHAMP1_chr13_114309503_114332322	114318873	TTTTTTTT others(7): Show TTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	414	0.0024	-14	c.-17 others(33): Show c.-178-2236_-178-2223delTTTTTTTTTTTTTA	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2			chr13	TogoVar
CHAMP1_chr13_114309503_114332322	114322036	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	414	0.0024	-14	c.-56 others(29): Show c.-56+814_-56+827delTTTTTTTTTTTTTT	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHAT_chr10_49609037_49672942	49641341	CCTTCCTC others(7): Show CCTTCCTCTCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02922.hp2 others(1): Show HG01884.hp1 HG02572.hp2 HG02922.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0005 a0001c0013t0005 a0001c0013t0032 a0001c0001t0005 a0001c0013t0005 a0001c0013t0032	a0001c0001t0005g0221 a0001c0013t0005g0217 a0001c0013t0005g0294 others(1): Show a0001c0001t0005g0221 a0001c0013t0005g0217 a0001c0013t0005g0294 a0001c0013t0032g0384	4	418	0.0096	-14	c.111 others(33): Show c.1112-5160_1112-5147delCCTCTCGCCATCTT	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132799007	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01358.hp2 HG02132.hp2 others(5): Show HG00544.hp2 HG01358.hp2 HG02132.hp2 HG03654.hp2 HG04228.hp2 NA18952.hp2 NA18963.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0141 a0001c0001t0001g0174 a0001c0001t0001g0220	8	310	0.0258	-14	c.525 others(31): Show c.525-2444_525-2431delCACACACACACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132807606	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 NA18954.hp1 others(4): Show HG01891.hp2 HG02717.hp1 NA18954.hp1 NA18980.hp2 NA19043.hp1 NA19077.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0176 others(4): Show a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0205 a0001c0001t0002g0214 a0001c0001t0002g0215 a0002c0002t0001g0248	7	310	0.0226	-14	c.525 others(33): Show c.525-11043_525-11030delATATATATATATAT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	6/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132882461	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	310	0.0032	-14	c.453 others(31): Show c.453+3187_453+3200delTATATATATATATA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	5/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132941988	AACTGAGA others(7): Show AACTGAGATACAAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	310	0.0032	-14	c.369 others(33): Show c.369+33167_369+33180delCTTTGTATCTCAGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD5_chr2_112579609_112594040	112592590	ACCCCCTT others(7): Show ACCCCCTTTTCATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(241): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0005 a0003c0003 others(2): Show a0001c0001 a0001c0005 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0005t0001 a0003c0003t0002 a0004c0004t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0003g0003 a0001c0001t0003g0024 a0001c0001t0004g0005 a0001c0001t0006g0008 a0001c0005t0001g0003 a0003c0003t0002g0002 a0004c0004t0001g0003 a0005c0006t0001g0001	244	444	0.5496	-14	c.37 others(25): Show c.3702_*3715delCCCCCTTTTCATTT	CHCHD5	ENSG00000125611.16	transcript	ENST00000324913.10	protein_coding		3551		chr2	TogoVar
CHD1_chr5_98848985_98934007	98871369	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19066.hp1 NA18946.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0221 a0001c0001t0001g0188 a0001c0001t0001g0221	2	334	0.0060	-14	c.386 others(31): Show c.3862-580_3862-567delTTTTTTTTTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	28/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98883826	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03492.hp2 HG02922.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0009 a0001c0003t0002 a0001c0003t0009	a0001c0003t0002g0048 a0001c0003t0009g0224 a0001c0003t0002g0048 a0001c0003t0009g0224	2	334	0.0060	-14	c.256 others(31): Show c.2569-603_2569-590delATATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98883851	ATATATAT others(7): Show ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp1 HG03139.hp1 others(5): Show HG02258.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp2 HG04199.hp1 NA18950.hp1 NA18955.hp2 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0007 a0002c0002t0018 a0002c0002t0005 a0002c0002t0007 a0002c0002t0018	a0002c0002t0005g0015 a0002c0002t0005g0018 a0002c0002t0005g0022 others(5): Show a0002c0002t0005g0015 a0002c0002t0005g0018 a0002c0002t0005g0022 a0002c0002t0005g0023 a0002c0002t0007g0008 a0002c0002t0007g0009 a0002c0002t0007g0010 a0002c0002t0018g0012	8	334	0.0240	-14	c.256 others(31): Show c.2569-628_2569-615delAAAATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD2_chr15_92895324_93032996	92940940	TATATATA others(7): Show TATATATAAATATAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0182 a0001c0010t0002g0182	1	306	0.0033	-14	c.693 others(29): Show c.693-874_693-861delAATATAAATATATA	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD2_chr15_92895324_93032996	92965565	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18993.hp2 NA19000.hp1 HG04204.hp2 NA18993.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0008 a0001c0019t0001 a0001c0001t0001 a0001c0001t0008 a0001c0019t0001	a0001c0001t0001g0070 a0001c0001t0008g0217 a0001c0019t0001g0119 a0001c0001t0001g0070 a0001c0001t0008g0217 a0001c0019t0001g0119	3	306	0.0098	-14	c.200 others(33): Show c.2001-1743_2001-1730delAAAAAAAAAAAAAA	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	16/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD2_chr15_92895324_93032996	92999083	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0019 a0001c0013t0019	a0001c0013t0019g0168 a0001c0013t0019g0168	1	306	0.0033	-14	c.400 others(31): Show c.4008+483_4008+496delAAAAAAAAAAAAAA	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	31/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD4_chr12_6565082_6612379	6607668	CCCAACAC others(7): Show CCCAACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA20129.hp2 HG03927.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0077 a0001c0002t0002g0008 a0001c0002t0002g0077	2	374	0.0054	-14	c.-46 others(23): Show c.-461_-448delTGTGTGTGTGTTGG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		290		chr12	TogoVar
CHD4_chr12_6565082_6612379	6607671	AACACACA others(7): Show AACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	374	0.0027	-14	c.-46 others(23): Show c.-464_-451delGTGTGTGTGTGTGT	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		293		chr12	TogoVar
CHD5_chr1_6096787_6185321	6139217	TCTGTTGT others(7): Show TCTGTTGTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0034 a0001c0031t0034	a0001c0031t0034g0004 a0001c0031t0034g0004	1	320	0.0031	-14	c.243 others(33): Show c.2437-2366_2437-2353delCAAAACAACAACAG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	15/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6160325	AGGGCCCC others(7): Show AGGGCCCCAGCAAGG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18970.hp2 NA18968.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0006 a0001c0001t0007 a0001c0005t0006	a0001c0001t0007g0258 a0001c0005t0006g0124 a0001c0001t0007g0258 a0001c0005t0006g0124	2	320	0.0063	-14	c.208 others(29): Show c.208-824_208-811delCCTTGCTGGGGCCC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00733.hp2 others(14): Show HG00280.hp1 HG00639.hp1 HG00733.hp2 HG01255.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG02132.hp1 HG02523.hp1 HG02698.hp2 HG03139.hp1 HG03492.hp2 HG03669.hp2 NA18978.hp1 NA19011.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0062 others(14): Show a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143	17	324	0.0525	-14	c.612 others(31): Show c.6127+940_6127+953delTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)