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
CHSY3_chr5_129899465_130191634	129932103	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01516.hp2 HG01517.hp1 others(2): Show HG00280.hp2 HG01516.hp2 HG01517.hp1 HG02148.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0006 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0006 a0001c0002t0001 a0002c0003t0001 a0002c0003t0006	a0001c0001t0006g0264 a0001c0001t0006g0268 a0001c0002t0001g0107 others(2): Show a0001c0001t0006g0264 a0001c0001t0006g0268 a0001c0002t0001g0107 a0002c0003t0001g0230 a0002c0003t0006g0265	5	276	0.0181	-14	c.108 others(35): Show c.1086+23770_1086+23783delATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	129976028	AAAATAAA others(7): Show AAAATAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	276	0.0036	-14	c.108 others(35): Show c.1086+67686_1086+67699delTAAATAAAAATAAA	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130020422	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG01952.hp1 others(16): Show HG00408.hp2 HG00621.hp2 HG01952.hp1 HG02015.hp2 HG02055.hp2 HG02129.hp1 HG02135.hp1 HG02523.hp2 HG02922.hp2 HG03041.hp2 HG03225.hp1 HG04115.hp2 HG04204.hp1 NA18747.hp1 NA18948.hp2 NA18966.hp2 NA18983.hp1 NA19064.hp1 NA19064.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0005 a0003c0004 a0003c0006 a0005c0010	a0001c0001t0002 a0001c0002t0001 a0001c0008t0001 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0008t0001 a0002c0003t0005 a0002c0005t0005 a0003c0004t0004 a0003c0006t0003 a0005c0010t0003	a0001c0001t0002g0146 a0001c0002t0001g0016 a0001c0002t0001g0017 others(16): Show a0001c0001t0002g0146 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0002t0001g0064 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0008t0001g0062 a0002c0003t0005g0233 a0002c0005t0005g0011 a0003c0004t0004g0173 a0003c0006t0003g0038 a0003c0006t0003g0041 a0003c0006t0003g0110 a0005c0010t0003g0028	19	276	0.0688	-14	c.108 others(37): Show c.1086+112089_1086+112102delATATATATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130126565	AGAGAGAG others(7): Show AGAGAGAGAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG03209.hp2 others(3): Show HG02258.hp2 HG02886.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 NA18906.hp1	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0003 a0003c0004 a0010c0018 a0002c0003 a0003c0004 a0010c0018	a0002c0003t0005 a0003c0004t0004 a0010c0018t0011 a0002c0003t0005 a0003c0004t0004 a0010c0018t0011	a0002c0003t0005g0124 a0002c0003t0005g0126 a0002c0003t0005g0127 others(3): Show a0002c0003t0005g0124 a0002c0003t0005g0126 a0002c0003t0005g0127 a0002c0003t0005g0128 a0003c0004t0004g0156 a0010c0018t0011g0224	6	276	0.0217	-14	c.108 others(35): Show c.1087-57663_1087-57650delGAGAGAGAGAAAGG	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2			chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143754	ATATGTGT others(7): Show ATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0055 a0002c0005t0001g0055	1	276	0.0036	-14	c.108 others(35): Show c.1087-40471_1087-40458delGTGTGTGTGTGTAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143796	ATATATAT others(7): Show ATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0043 a0003c0006t0003g0043	1	276	0.0036	-14	c.108 others(35): Show c.1087-40423_1087-40410delGTGTGTATATATAT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHUK_chr10_100183300_100234596	100228987	GCGCGCGC others(7): Show GCGCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 NA20129.hp1 HG02055.hp1 HG02451.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	3	402	0.0075	-14	c.105 others(29): Show c.105+427_105+440delTGTGTGTGCGCGCG	CHUK	ENSG00000213341.11	transcript	ENST00000370397.8	protein_coding	1/20			chr10	TogoVar
CIAO1_chr2_96261225_96279173	96265632	ACCGAAGA others(7): Show ACCGAAGAGGGCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	404	0.0025	-14	c.-71 others(23): Show c.-718_-705delCCGAAGAGGGCCAG	CIAO1	ENSG00000144021.3	transcript	ENST00000488633.2	protein_coding		592		chr2	TogoVar
CIAO2A_chr15_64067565_64098838	64097380	TTTTGGGA others(7): Show TTTTGGGAATTCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00621.hp1 others(138): Show HG00099.hp1 HG00140.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18987.hp1 NA18993.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(79): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0003g0011 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0004g0018 a0001c0001t0004g0160 a0001c0001t0006g0042	141	338	0.4172	-14	c.-36 others(25): Show c.-3626_-3613delGCTGAATTCCCAAA	CIAO2A	ENSG00000166797.11	transcript	ENST00000300030.8	protein_coding		3543		chr15	TogoVar
CIB2_chr15_78099606_78136445	78126348	TTGGTCAG others(7): Show TTGGTCAGGCTGGTC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	390	0.0026	-14	c.52- others(29): Show c.52-2623_52-2610delGACCAGCCTGACCA	CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding	1/5			chr15	TogoVar
CIB3_chr19_16156368_16178525	16173041	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp1 others(1): Show HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0078 a0002c0002t0001g0027 a0002c0002t0001g0077 a0001c0001t0001g0078 a0002c0002t0001g0027 a0002c0002t0001g0077	4	378	0.0106	-14	c.86+ others(27): Show c.86+107_86+120delGTGTGTGTGTGTGT	CIB3	ENSG00000141977.9	transcript	ENST00000269878.8	protein_coding	2/5			chr19	TogoVar
CIB4_chr2_26576205_26646366	26590258	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0214 a0002c0003t0002g0214	1	344	0.0029	-14	c.328 others(31): Show c.328+4904_328+4917delTTTTTTTTTTTTTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26595895	GCGCACAC others(7): Show GCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0005 a0001c0005t0001 a0001c0006t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0003t0001 a0004c0008t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(252): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0095 a0001c0001t0002g0108 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0249 a0001c0001t0002g0308 a0001c0001t0004g0115 a0001c0001t0004g0242 a0001c0001t0004g0275 a0001c0001t0005g0263 a0001c0001t0005g0280 a0001c0001t0005g0331 a0001c0001t0006g0233 a0001c0004t0005g0294 a0001c0005t0001g0090 a0001c0005t0001g0109 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0006t0002g0231 a0002c0002t0001g0015 a0002c0002t0001g0031 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0111 a0002c0002t0001g0125 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0155 a0002c0002t0001g0185 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0254 a0002c0002t0001g0262 a0002c0002t0001g0268 a0002c0002t0001g0297 a0002c0002t0001g0301 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0093 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0132 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0146 a0002c0002t0002g0148 a0002c0002t0002g0158 a0002c0002t0002g0186 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0215 a0002c0002t0002g0224 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0250 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0269 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0291 a0002c0002t0002g0295 a0002c0002t0002g0298 a0002c0002t0002g0303 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0003g0251 a0002c0002t0003g0314 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0037 a0002c0002t0004g0281 a0002c0002t0005g0009 a0002c0002t0006g0216 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0300 a0002c0003t0001g0332 a0004c0008t0002g0151	258	344	0.7500	-14	c.187 others(29): Show c.187-592_187-579delTGTGTGTGTGTGCG	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26601227	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA21309.hp2 HG04228.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0031 a0002c0002t0002g0054 a0002c0002t0001g0031 a0002c0002t0002g0054	2	344	0.0058	-14	c.187 others(31): Show c.187-5924_187-5911delATATATATATTTTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26601229	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03516.hp1 NA18969.hp1 HG02027.hp2 HG03516.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0001c0001t0001 a0001c0005t0001 a0002c0002t0002	a0001c0001t0001g0055 a0001c0005t0001g0113 a0002c0002t0002g0245 a0001c0001t0001g0055 a0001c0005t0001g0113 a0002c0002t0002g0245	3	344	0.0087	-14	c.187 others(31): Show c.187-5926_187-5913delATATATATATATTT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIB4_chr2_26576205_26646366	26601231	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02109.hp1 HG02129.hp1 others(8): Show HG00408.hp2 HG02109.hp1 HG02129.hp1 HG02572.hp2 HG02647.hp2 HG03139.hp2 HG03471.hp1 HG03579.hp2 NA18957.hp1 NA18969.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0002g0244 a0002c0002t0002g0330	11	344	0.0320	-14	c.187 others(31): Show c.187-5928_187-5915delATATATATATATAT	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	3/6			chr2	TogoVar
CIDEA_chr18_12249361_12282595	12276863	GCGGTGGT others(7): Show GCGGTGGTCTTGGGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG03516.hp1 HG02647.hp2 HG02818.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0366 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0366	3	448	0.0067	-14	c.513 others(29): Show c.513-258_513-245delGGTGGTCTTGGGCC	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CIDEB_chr14_24300187_24312977	24311450	GGGCGGAG others(7): Show GGGCGGAGCCGGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	-14	c.-36 others(25): Show c.-3606_-3593delTGGCCGGCTCCGCC	CIDEB	ENSG00000136305.12	transcript	ENST00000554411.6	protein_coding		3474		chr14	TogoVar
CIDEC_chr3_9861714_9885253	9864866	ATAGCAGG others(7): Show ATAGCAGGCCCTCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0129	1	410	0.0024	-14	c.22 others(25): Show c.2254_*2267delAAGAGGGCCTGCTA	CIDEC	ENSG00000187288.12	transcript	ENST00000336832.7	protein_coding		1847		chr3	TogoVar
CILK1_chr6_52996303_53066824	52997120	AACACACA others(7): Show AACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19088.hp2 NA19057.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0014g0050 a0001c0002t0001g0123 a0001c0001t0014g0050 a0001c0002t0001g0123	2	244	0.0082	-14	c.80 others(25): Show c.8015_*8028delGTGTGTGTGTGTGT	CILK1	ENSG00000112144.16	transcript	ENST00000676107.1	protein_coding		4182		chr6	TogoVar
CIROP_chr14_23094062_23109989	23094104	CCACACAA others(7): Show CCACACAAACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01358.hp1 others(39): Show HG01070.hp2 HG01071.hp1 HG01358.hp1 HG01975.hp1 HG02027.hp1 HG02056.hp1 HG02132.hp1 HG02257.hp2 HG02615.hp1 HG03669.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18986.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0001c0001t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0054 a0003c0003t0001g0077 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0054 a0003c0003t0001g0077 a0004c0004t0001g0003 a0004c0004t0001g0066 a0004c0004t0001g0067	42	450	0.0933	-14	c.51 others(25): Show c.5164_*5177delTGTGTGTTTGTGTG	CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding		4957		chr14	TogoVar
CISD2_chr4_102863992_102897807	102866164	TATCTCCT others(7): Show TATCTCCTATTACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0125 a0001c0001t0020g0125	1	354	0.0028	-14	c.-29 others(25): Show c.-2920_-2907delATCTCCTATTACAC	CISD2	ENSG00000145354.12	transcript	ENST00000273986.10	protein_coding		2827		chr4	TogoVar
CISD2_chr4_102863992_102897807	102873728	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	354	0.0028	-14	c.103 others(31): Show c.103+4549_103+4562delAAAAAAAAAAAAAA	CISD2	ENSG00000145354.12	transcript	ENST00000273986.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
CISH_chr3_50601489_50616774	50602054	GCACACAC others(7): Show GCACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(123): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01515.hp2 HG01516.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0002t0002 a0001c0005t0001 a0001c0007t0002 a0002c0003t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0002g0003 a0001c0001t0003g0005 a0001c0001t0004g0007 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0006g0009 a0001c0001t0008g0018 a0001c0001t0012g0038 a0001c0001t0013g0028 a0001c0002t0002g0002 a0001c0002t0002g0029 a0001c0005t0001g0017 a0001c0007t0002g0020 a0002c0003t0001g0011 a0003c0008t0001g0019	126	360	0.3500	-14	c.55 others(25): Show c.5539_*5552delTGTGTGTGTGTGTG	CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding		4434		chr3	TogoVar
CIT_chr12_119680791_119882320	119709785	AGAGTGTG others(7): Show AGAGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19010.hp2 NA20752.hp1 NA18991.hp1 NA19010.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0002 a0001c0010t0002 a0001c0002t0002 a0001c0010t0002	a0001c0002t0002g0102 a0001c0010t0002g0103 a0001c0010t0002g0113 a0001c0002t0002g0102 a0001c0010t0002g0103 a0001c0010t0002g0113	3	236	0.0127	-14	c.507 others(31): Show c.5071+452_5071+465delACACACACACACTC	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	39/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119709787	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG02717.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0019 a0001c0003 a0003c0019	a0001c0003t0003 a0003c0019t0003 a0001c0003t0003 a0003c0019t0003	a0001c0003t0003g0197 a0003c0019t0003g0231 a0001c0003t0003g0197 a0003c0019t0003g0231	2	236	0.0085	-14	c.507 others(31): Show c.5071+450_5071+463delACACACACACACAC	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	39/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119716378	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0115 a0001c0006t0012g0115	1	236	0.0042	-14	c.416 others(33): Show c.4168+1853_4168+1866delTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	32/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119824108	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG02647.hp2 others(9): Show HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0017 a0002c0016 others(1): Show a0001c0001 a0001c0017 a0002c0016 a0004c0018	a0001c0001t0001 a0001c0001t0006 a0001c0017t0003 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0017t0003 a0002c0016t0001 a0004c0018t0006	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0006g0011 a0001c0017t0003g0012 a0001c0017t0003g0013 a0002c0016t0001g0014 a0004c0018t0006g0005 a0004c0018t0006g0006	12	236	0.0509	-14	c.957 others(31): Show c.957+1043_957+1056delTATATATATATATA	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	8/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119862808	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0004 a0001c0015t0006g0004	1	236	0.0042	-14	c.239 others(31): Show c.239-5124_239-5111delTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	3/47			chr12	TogoVar
CKAP2_chr13_52450478_52481627	52465906	TATATATA others(7): Show TATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	406	0.0025	-14	c.147 others(31): Show c.1476+469_1476+482delCATATATATACACA	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP5_chr11_46738048_46851280	46752161	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp1 HG03017.hp1 others(2): Show HG00735.hp1 HG01257.hp1 HG03017.hp1 HG03704.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0003 a0001c0013t0003 a0001c0002t0003 a0001c0013t0003	a0001c0002t0003g0120 a0001c0002t0003g0123 a0001c0002t0003g0132 others(2): Show a0001c0002t0003g0120 a0001c0002t0003g0123 a0001c0002t0003g0132 a0001c0002t0003g0139 a0001c0013t0003g0131	5	294	0.0170	-14	c.513 others(31): Show c.5133+460_5133+473delATATATATATATAT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	38/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46842966	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	294	0.0034	-14	c.-38 others(31): Show c.-38+3240_-38+3253delTTTTTTTTTTTTTT	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	1/43			chr11	TogoVar
CKAP5_chr11_46738048_46851280	46848224	CTTTTTTT others(7): Show CTTTTTTTTTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01258.hp1 others(4): Show HG00738.hp2 HG01099.hp1 HG01258.hp1 HG01516.hp2 HG02004.hp2 HG02055.hp1 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0010 a0003c0009t0001 a0001c0001t0001 a0001c0001t0010 a0003c0009t0001	a0001c0001t0001g0150 a0001c0001t0001g0210 a0001c0001t0001g0211 others(4): Show a0001c0001t0001g0150 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0010g0290 a0003c0009t0001g0241	7	294	0.0238	-14	c.-20 others(25): Show c.-2056_-2043delAGAAAAAAAAAAAA	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding		1945		chr11	TogoVar
CKLF_chr16_66547576_66571068	66560798	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	392	0.0026	-14	c.238 others(31): Show c.238-2297_238-2284delACACACACACACAC	CKLF	ENSG00000217555.13	transcript	ENST00000264001.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CKMT2_chr5_81228322_81271398	81250940	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	356	0.0028	-14	c.-20 others(29): Show c.-20-147_-20-134delCACACACACACACA	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CKMT2_chr5_81228322_81271398	81257141	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02129.hp2 HG02965.hp1 HG01943.hp2 HG02129.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0001g0117 a0001c0001t0002g0263 a0001c0001t0001g0085 a0001c0001t0001g0117 a0001c0001t0002g0263	3	356	0.0084	-14	c.755 others(29): Show c.755+170_755+183delGTGTGTGTGTGTGT	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLASP1_chr2_121332776_121654462	121339131	CCACACAC others(7): Show CCACACACACACACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0139 a0001c0002t0039g0139	1	214	0.0047	-14	c.17 others(25): Show c.1716_*1729delTGTGTGTGTGTGTG	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	41/41	1716		chr2	TogoVar
CLASP1_chr2_121332776_121654462	121384005	TATACACA others(7): Show TATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG03209.hp2 others(1): Show HG02451.hp1 HG02559.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0020 a0001c0002t0014g0021 a0001c0002t0014g0022 others(1): Show a0001c0002t0014g0020 a0001c0002t0014g0021 a0001c0002t0014g0022 a0001c0002t0014g0023	4	214	0.0187	-14	c.343 others(33): Show c.3438-1695_3438-1682delGTGTGTGTGTGTAT	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	33/40			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121582463	AGATACAT others(7): Show AGATACATGTTTTTG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	214	0.0047	-14	c.195 others(33): Show c.195+23224_195+23237delCAAAAACATGTATC	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	2/40			chr2	TogoVar
CLASP2_chr3_33491245_33723254	33506377	CGAAAAAA others(7): Show CGAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02257.hp1 others(14): Show HG01884.hp1 HG01891.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03579.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0016 a0001c0001t0004g0135 a0001c0001t0004g0165 others(14): Show a0001c0001t0004g0016 a0001c0001t0004g0135 a0001c0001t0004g0165 a0001c0001t0004g0213 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278	17	278	0.0612	-14	c.431 others(33): Show c.4317+4167_4317+4180delTTTTTTTTTTTTTC	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	37/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33529984	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19030.hp1 HG02622.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0229 a0001c0001t0004g0233	2	278	0.0072	-14	c.378 others(33): Show c.3787+5235_3787+5248delTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	34/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33620997	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02040.hp2 HG02074.hp1 others(6): Show HG00609.hp2 HG02040.hp2 HG02074.hp1 HG02129.hp1 NA18939.hp1 NA18946.hp2 NA18960.hp1 NA18969.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0039 a0001c0001t0003g0043 others(6): Show a0001c0001t0003g0015 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0071 a0001c0001t0003g0073	9	278	0.0324	-14	c.118 others(33): Show c.1181+1124_1181+1137delCACACACACACACA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	11/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33708530	ATATATGT others(7): Show ATATATGTATATATG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	278	0.0036	-14	c.195 others(31): Show c.195+9264_195+9277delCATATATACATATA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33713012	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	278	0.0036	-14	c.195 others(31): Show c.195+4782_195+4795delTTTTTTTTTTTTTT	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38			chr3	TogoVar
CLBA1_chr14_104980788_105000516	104992060	GCCGCCAC others(7): Show GCCGCCACGCACACC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0147 a0001c0001t0006g0147	1	444	0.0023	-14	c.699 others(29): Show c.699+453_699+466delCCCCGCCACGCACA	CLBA1	ENSG00000140104.14	transcript	ENST00000547315.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
CLCN1_chr7_143311111_143357083	143320573	CTCTCTCT others(7): Show CTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp1 HG02572.hp2 NA18906.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0023 a0005c0010t0001g0024 a0005c0010t0001g0023 a0005c0010t0001g0024	2	414	0.0048	-14	c.302 others(27): Show c.302-85_302-72delCTCTCTCTGTCTCT	CLCN1	ENSG00000188037.14	transcript	ENST00000343257.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLCN1_chr7_143311111_143357083	143338795	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19001.hp2 NA18946.hp1 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0182 a0002c0002t0001g0082 a0002c0002t0001g0182	2	414	0.0048	-14	c.140 others(31): Show c.1402-445_1402-432delAGAAAAAAAAAAAA	CLCN1	ENSG00000188037.14	transcript	ENST00000343257.7	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLCN3_chr4_169615578_169728673	169632716	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0106 a0001c0002t0008g0106	1	288	0.0035	-14	c.-16 others(31): Show c.-16-3184_-16-3171delAAAAAAAAAAAAAA	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCN5_chrX_49917596_50104230	49972112	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02886.hp2 HG01884.hp1 HG02486.hp1 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166	3	175	0.0171	-14	c.16+ others(31): Show c.16+46833_16+46846delGTGTGTGTGTGTGT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN5_chrX_49917596_50104230	50007397	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	175	0.0057	-14	c.17- others(31): Show c.17-34891_17-34878delCTCTCTCTCTCTCT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)