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
CACUL1_chr10_118671411_118759970	118749322	ATGGCTTG others(9): Show ATGGCTTGGATTTCTGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0149 a0001c0002t0064g0149	1	388	0.0026	-16	c.367 others(33): Show c.367+5058_367+5073delCCAGAAATCCAAGCCA	CACUL1	ENSG00000151893.15	transcript	ENST00000369151.8	protein_coding	1/8			chr10	TogoVar
CADM1_chr11_115164236_115509415	115407873	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	164	0.0061	-16	c.124 others(35): Show c.124+96382_124+96397delTTTTTTTTTTTTTTTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	84982702	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	146	0.0069	-16	c.61+ others(33): Show c.61+23052_61+23067delTATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85133557	CCACTGGT others(9): Show CCACTGGTGTATTTACA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp2 NA20129.hp1 HG02809.hp2 HG02976.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0011 a0001c0002t0046 a0001c0001t0008 a0001c0002t0011 a0001c0002t0046	a0001c0001t0008g0141 a0001c0002t0011g0143 a0001c0002t0046g0139 a0001c0001t0008g0141 a0001c0002t0011g0143 a0001c0002t0046g0139	3	146	0.0206	-16	c.61+ others(35): Show c.61+173890_61+173905delCACTGGTGTATTTACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85212812	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0023 a0001c0003t0024 a0001c0001t0023 a0001c0003t0024	a0001c0001t0023g0006 a0001c0003t0024g0007 a0001c0001t0023g0006 a0001c0003t0024g0007	2	146	0.0137	-16	c.61+ others(35): Show c.61+253204_61+253219delTTCTTTCTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85242145	GAACTTTT others(9): Show GAACTTTTCTGGTATAA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18989.hp1 NA18949.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0120 a0001c0001t0005g0123	2	146	0.0137	-16	c.61+ others(35): Show c.61+282487_61+282502delGGTATAAAACTTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321114	ATATTTTT others(9): Show ATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG06807.hp1 HG02451.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0011 a0001c0001t0015 a0001c0002t0011	a0001c0001t0015g0077 a0001c0002t0011g0140 a0001c0001t0015g0077 a0001c0002t0011g0140	2	146	0.0137	-16	c.61+ others(35): Show c.61+361448_61+361463delATTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321116	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02970.hp2 others(1): Show HG01243.hp1 HG02630.hp1 HG02970.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020	a0001c0001t0003g0042 a0001c0001t0005g0128 a0001c0001t0007g0029 others(1): Show a0001c0001t0003g0042 a0001c0001t0005g0128 a0001c0001t0007g0029 a0001c0001t0020g0097	4	146	0.0274	-16	c.61+ others(35): Show c.61+361483_61+361498delTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85344380	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	146	0.0069	-16	c.62- others(35): Show c.62-382115_62-382100delATAAATAAATAAATAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85383503	CATATATA others(9): Show CATATATATATATGTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(40): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00621.hp2 HG01074.hp1 HG01099.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG02015.hp1 HG02129.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03492.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18949.hp2 NA18952.hp1 NA18977.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA19060.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0031 a0001c0001t0043 a0001c0001t0047 a0001c0002t0016 a0001c0002t0034 a0001c0002t0046 a0001c0002t0048 a0001c0002t0051 a0001c0004t0033 a0002c0005t0004	a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0115 others(40): Show a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0003g0050 a0001c0001t0003g0104 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0004g0117 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0007g0059 a0001c0001t0009g0008 a0001c0001t0009g0037 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0010g0067 a0001c0001t0010g0146 a0001c0001t0012g0086 a0001c0001t0012g0129 a0001c0001t0018g0035 a0001c0001t0018g0039 a0001c0001t0020g0097 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0023g0006 a0001c0001t0031g0124 a0001c0001t0043g0060 a0001c0001t0047g0038 a0001c0002t0016g0051 a0001c0002t0034g0046 a0001c0002t0046g0139 a0001c0002t0048g0096 a0001c0002t0051g0005 a0001c0004t0033g0110 a0002c0005t0004g0058	43	146	0.2945	-16	c.62- others(35): Show c.62-343006_62-342991delGTATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85442588	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0042 a0001c0003t0006 a0001c0003t0042	a0001c0003t0006g0034 a0001c0003t0042g0109 a0001c0003t0006g0034 a0001c0003t0042g0109	2	146	0.0137	-16	c.62- others(35): Show c.62-283904_62-283889delATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541752	ATTTTATA others(9): Show ATTTTATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(20): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02129.hp1 HG02293.hp1 HG02486.hp2 HG02818.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03834.hp2 HG06807.hp1 NA18906.hp1 NA18949.hp1 NA18977.hp2 NA18982.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0001t0036 a0001c0001t0045 a0001c0004t0001	a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0002g0119 others(20): Show a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0093 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0015g0076 a0001c0001t0015g0077 a0001c0001t0015g0133 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0022g0081 a0001c0001t0022g0087 a0001c0001t0028g0122 a0001c0001t0036g0106 a0001c0001t0045g0134 a0001c0004t0001g0111	23	146	0.1575	-16	c.62- others(35): Show c.62-184768_62-184753delTTTATATATATATTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85564167	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(56): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00621.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01981.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02818.hp2 HG02895.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18995.hp1 NA19003.hp2 NA19009.hp2 NA19030.hp1 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0063 others(56): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0119 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0093 a0001c0001t0003g0113 a0001c0001t0004g0105 a0001c0001t0004g0117 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0128 a0001c0001t0007g0029 a0001c0001t0007g0082 a0001c0001t0010g0020 a0001c0001t0012g0057 a0001c0001t0015g0076 a0001c0001t0015g0077 a0001c0001t0015g0133 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0020g0043 a0001c0001t0022g0081 a0001c0001t0022g0087 a0001c0001t0023g0003 a0001c0001t0028g0122 a0001c0001t0032g0112 a0001c0001t0035g0036 a0001c0001t0036g0106 a0001c0001t0039g0072 a0001c0001t0041g0056 a0001c0001t0044g0041 a0001c0001t0045g0134 a0001c0001t0050g0107 a0001c0004t0001g0111	59	146	0.4041	-16	c.62- others(35): Show c.62-162338_62-162323delTCTCTCTCTCTCTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568397	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG02683.hp1 others(1): Show HG00738.hp2 HG01069.hp2 HG02683.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0011 a0001c0001t0013 a0001c0002t0011	a0001c0001t0013g0009 a0001c0001t0013g0010 a0001c0001t0013g0011 others(1): Show a0001c0001t0013g0009 a0001c0001t0013g0010 a0001c0001t0013g0011 a0001c0002t0011g0143	4	146	0.0274	-16	c.62- others(35): Show c.62-158073_62-158058delTTCTTTCTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85601161	TATATATA others(9): Show TATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04228.hp2 HG03927.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0078 a0001c0001t0002g0102	2	146	0.0137	-16	c.62- others(35): Show c.62-125359_62-125344delTATATATATATACACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85701858	AAGATAGA others(9): Show AAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00738.hp2 others(12): Show HG00140.hp2 HG00280.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02129.hp1 HG02683.hp1 HG03834.hp2 NA18949.hp1 NA18977.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 a0001c0001t0028 a0001c0001t0045 a0001c0004t0001	a0001c0001t0001g0103 a0001c0001t0003g0068 a0001c0001t0003g0069 others(12): Show a0001c0001t0001g0103 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0092 a0001c0001t0003g0113 a0001c0001t0013g0009 a0001c0001t0013g0010 a0001c0001t0013g0011 a0001c0001t0022g0081 a0001c0001t0022g0087 a0001c0001t0028g0122 a0001c0001t0045g0134 a0001c0004t0001g0111	15	146	0.1027	-16	c.62- others(33): Show c.62-24626_62-24611delGATAGATAGATAGATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85784530	TTATCTAT others(9): Show TTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02895.hp1 HG02559.hp2 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0059 a0001c0001t0014g0026 a0001c0001t0014g0118 a0001c0001t0007g0059 a0001c0001t0014g0026 a0001c0001t0014g0118	3	146	0.0206	-16	c.89- others(33): Show c.89-17482_89-17467delTCTATCTATCTATCTA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85809658	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02630.hp2 others(7): Show HG00423.hp1 HG02015.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG03492.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0043 a0001c0001t0050 a0001c0002t0046 a0002c0005t0004	a0001c0001t0002g0019 a0001c0001t0004g0053 a0001c0001t0004g0064 others(7): Show a0001c0001t0002g0019 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0018g0035 a0001c0001t0018g0039 a0001c0001t0043g0060 a0001c0001t0050g0107 a0001c0002t0046g0139 a0002c0005t0004g0058	10	146	0.0685	-16	c.238 others(33): Show c.238+7508_238+7523delCTTCCTTCCTTCCTTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85897241	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0126 a0001c0001t0021g0126	1	146	0.0069	-16	c.529 others(35): Show c.529+10938_529+10953delTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85926137	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01099.hp1 others(29): Show HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp2 NA18906.hp1 NA18950.hp2 NA18984.hp2 NA18995.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0001t0044	a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0032 others(29): Show a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0003g0042 a0001c0001t0003g0093 a0001c0001t0004g0105 a0001c0001t0007g0029 a0001c0001t0012g0057 a0001c0001t0012g0086 a0001c0001t0012g0129 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0020g0043 a0001c0001t0020g0097 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0023g0003 a0001c0001t0023g0006 a0001c0001t0036g0106 a0001c0001t0038g0142 a0001c0001t0041g0056 a0001c0001t0044g0041	32	146	0.2192	-16	c.701 others(33): Show c.701-9604_701-9589delAATAAATAAATAAATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	86039302	GAATTCCT others(9): Show GAATTCCTAGTCAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01074.hp1 others(59): Show HG00423.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18949.hp2 NA18952.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA19003.hp2 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19064.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0002t0046 a0002c0005t0004	a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0019 others(59): Show a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0004g0105 a0001c0001t0004g0117 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0128 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0101 a0001c0001t0008g0141 a0001c0001t0009g0008 a0001c0001t0009g0037 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0012g0057 a0001c0001t0012g0086 a0001c0001t0012g0129 a0001c0001t0015g0076 a0001c0001t0015g0077 a0001c0001t0015g0133 a0001c0001t0018g0035 a0001c0001t0018g0039 a0001c0001t0020g0043 a0001c0001t0020g0097 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0023g0003 a0001c0001t0023g0006 a0001c0001t0037g0054 a0001c0001t0038g0142 a0001c0001t0039g0072 a0001c0001t0040g0024 a0001c0001t0041g0056 a0001c0001t0043g0060 a0001c0001t0044g0041 a0001c0001t0047g0038 a0001c0001t0050g0107 a0001c0001t0052g0002 a0001c0002t0046g0139 a0002c0005t0004g0058	62	146	0.4247	-16	c.971 others(35): Show c.971-26296_971-26281delTAGTCAAAGAAATTCC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM3_chr1_159166615_159208313	159200518	GCACACAC others(9): Show GCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19058.hp1 NA19080.hp1 NA18977.hp1 NA19058.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0094 a0001c0001t0002g0035 a0001c0001t0005g0035 a0001c0001t0001g0094 a0001c0001t0002g0035 a0001c0001t0005g0035	3	376	0.0080	-16	c.107 others(33): Show c.1079-264_1079-249delACACACACACACACAC	CADM3	ENSG00000162706.13	transcript	ENST00000368125.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CADPS2_chr7_122313411_122891460	122323873	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03540.hp1 HG02486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0119 a0001c0001t0003g0100 a0001c0001t0003g0119	2	126	0.0159	-16	c.371 others(35): Show c.3717+1588_3717+1603delTATATATATATATATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	29/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122366656	CATACACA others(9): Show CATACACACATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0033 a0001c0004t0002g0033	1	126	0.0079	-16	c.338 others(35): Show c.3388-5659_3388-5644delATATGTATGTGTGTAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	25/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122477016	AGGAGAGG others(9): Show AGGAGAGGAGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	126	0.0079	-16	c.186 others(35): Show c.1862-2515_1862-2500delCTCTCCTCTCCTCTCC	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	12/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122484883	CACGTGCT others(9): Show CACGTGCTCATATCATG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03209.hp1 HG03486.hp1 others(3): Show HG01167.hp1 HG03209.hp1 HG03486.hp1 HG03669.hp2 NA18944.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0004t0002	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0002t0002g0060 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0002t0002g0060 a0001c0002t0003g0116 a0001c0002t0007g0086 a0001c0004t0002g0093	6	126	0.0476	-16	c.185 others(35): Show c.1853-4039_1853-4024delCATGATATGAGCACGT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	11/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122541805	ATTTATAT others(9): Show ATTTATATATTCATATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01109.hp1 others(59): Show HG00280.hp1 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18953.hp1 NA18982.hp1 NA18984.hp2 NA19043.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006 a0003c0009 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0004 a0002c0006t0001 a0002c0006t0002 a0003c0009t0006 a0004c0008t0001	a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0061 others(59): Show a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0003g0031 a0001c0001t0003g0100 a0001c0001t0003g0113 a0001c0001t0004g0099 a0001c0001t0009g0029 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0044 a0001c0002t0001g0054 a0001c0002t0001g0065 a0001c0002t0001g0069 a0001c0002t0001g0124 a0001c0002t0002g0016 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0002g0097 a0001c0002t0003g0116 a0001c0002t0004g0067 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0005g0036 a0001c0002t0007g0086 a0001c0003t0001g0011 a0001c0003t0001g0110 a0001c0003t0002g0112 a0001c0004t0001g0111 a0001c0004t0002g0013 a0001c0004t0002g0015 a0001c0004t0002g0049 a0001c0004t0002g0056 a0001c0004t0002g0093 a0001c0005t0001g0087 a0001c0005t0001g0125 a0001c0005t0004g0072 a0002c0006t0001g0059 a0002c0006t0002g0055 a0003c0009t0006g0122 a0004c0008t0001g0092	62	126	0.4921	-16	c.147 others(37): Show c.1475+12729_1475+12744delCATATGAATATATAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	8/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122611880	GCAAGGAA others(9): Show GCAAGGAATGCAAGGTT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0118 a0001c0001t0008g0118	1	126	0.0079	-16	c.122 others(35): Show c.1223+3285_1223+3300delAACCTTGCATTCCTTG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	6/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122705555	TTATATTA others(9): Show TTATATTATATATTATC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp1 HG01952.hp2 others(9): Show HG00609.hp2 HG01192.hp1 HG01952.hp2 HG02080.hp1 HG02723.hp2 HG03239.hp2 HG03942.hp1 NA18522.hp2 NA18946.hp1 NA18990.hp1 NA18999.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010	a0001c0001t0001g0063 a0001c0001t0002g0020 a0001c0001t0002g0030 others(9): Show a0001c0001t0001g0063 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0064 a0001c0001t0002g0107 a0001c0001t0003g0024 a0001c0001t0003g0062 a0001c0001t0011g0025 a0001c0002t0002g0114 a0001c0003t0001g0009 a0001c0003t0002g0082 a0001c0003t0010g0109	12	126	0.0952	-16	c.453 others(35): Show c.453+31384_453+31399delGATAATATATAATATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122708520	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0107 a0001c0002t0001g0010 a0001c0001t0002g0107 a0001c0002t0001g0010	2	126	0.0159	-16	c.453 others(35): Show c.453+28419_453+28434delATATATATATATATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122878639	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19240.hp2 NA18944.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0095 a0001c0002t0003g0116 a0001c0001t0002g0095 a0001c0002t0003g0116	2	126	0.0159	-16	c.339 others(33): Show c.339+7344_339+7359delATTTATTTATTTATTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	1/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62438715	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	160	0.0063	-16	c.367 others(33): Show c.3670-520_3670-505delCACACACACACACACA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	27/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62522095	CTCTATCT others(9): Show CTCTATCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	160	0.0063	-16	c.229 others(35): Show c.2292-3861_2292-3846delTAGATAGATAGATAGA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	13/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62567564	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG01891.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0160 a0001c0001t0001g0019 a0001c0001t0002g0160	2	160	0.0125	-16	c.164 others(35): Show c.1644+3292_1644+3307delAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	9/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62583155	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	160	0.0063	-16	c.157 others(35): Show c.1577+2014_1577+2029delGAGAGAGAGAGAGAGA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	8/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62596088	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01074.hp2 others(37): Show HG00639.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18986.hp2 NA18995.hp1 NA19074.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 others(37): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0006g0005 a0001c0001t0008g0110 a0001c0001t0009g0014 a0001c0002t0001g0065 a0001c0002t0001g0077 a0001c0003t0001g0121 a0001c0004t0001g0010 a0001c0005t0001g0028 a0001c0005t0001g0029	40	160	0.2500	-16	c.132 others(35): Show c.1326-3356_1326-3341delGTGTGTGTGTGTGTGT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62638079	ATATATAT others(9): Show ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01261.hp2 others(15): Show HG01257.hp2 HG01258.hp1 HG01261.hp2 HG02109.hp1 HG02109.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG04228.hp1 HG04228.hp2 NA18971.hp1 NA18981.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 a0001c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0046 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0139 a0001c0001t0002g0158 a0001c0002t0001g0036 a0001c0002t0010g0122 a0001c0004t0001g0061	18	160	0.1125	-16	c.132 others(35): Show c.1325+7627_1325+7642delCATATATATATATATA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7328873	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02132.hp1 HG01975.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0166 a0001c0001t0001g0198	2	360	0.0056	-16	c.247 others(33): Show c.2478+960_2478+975delACACACACACACACAC	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	13/13			chr6	TogoVar
CAGE1_chr6_7321659_7394742	7328906	GTGTGTGT others(9): Show GTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp1 HG01433.hp1 others(13): Show HG00099.hp2 HG01192.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG02451.hp2 HG02572.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp1 NA18951.hp1 NA19001.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0169 others(13): Show a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0002g0261 a0001c0001t0002g0301 a0001c0002t0001g0066 a0002c0003t0001g0119 a0002c0003t0001g0121 a0002c0003t0001g0136 a0002c0003t0001g0139 a0002c0003t0001g0141	16	360	0.0444	-16	c.247 others(33): Show c.2478+927_2478+942delTATACACACACACACA	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	13/13			chr6	TogoVar
CAGE1_chr6_7321659_7394742	7328908	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	360	0.0028	-16	c.247 others(33): Show c.2478+925_2478+940delTATATACACACACACA	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	13/13			chr6	TogoVar
CAGE1_chr6_7321659_7394742	7350637	TAAATAAC others(9): Show TAAATAACCTGCTCCTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	360	0.0028	-16	c.236 others(35): Show c.2369+4388_2369+4403delCAGGAGCAGGTTATTT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13			chr6	TogoVar
CAGE1_chr6_7321659_7394742	7358025	GAGATATA others(9): Show GAGATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	360	0.0028	-16	c.219 others(35): Show c.2194-1912_2194-1897delATATATATATATATCT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13			chr6	TogoVar
CAGE1_chr6_7321659_7394742	7376389	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03927.hp2 NA19240.hp2 HG00642.hp2 HG03927.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0266 a0001c0001t0002g0333 a0001c0002t0001g0101 a0001c0001t0002g0266 a0001c0001t0002g0333 a0001c0002t0001g0101	3	360	0.0083	-16	c.687 others(33): Show c.687+2212_687+2227delATTTATTTATTTATTT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	4/13			chr6	TogoVar
CALB1_chr8_90053608_90087879	90070837	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	384	0.0026	-16	c.232 others(33): Show c.232-1616_232-1601delACACACACACACACAC	CALB1	ENSG00000104327.7	transcript	ENST00000265431.7	protein_coding	3/10			chr8	TogoVar
CALB2_chr16_71353723_71395433	71380292	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	426	0.0024	-16	c.343 others(33): Show c.343-2407_343-2392delTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCA_chr11_14963501_14977351	14971249	AGGAGCCC others(9): Show AGGAGCCCACAGACCTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp2 HG01175.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	384	0.0052	-16	c.-9- others(27): Show c.-9-64_-9-49delAAGGTCTGTGGGCTCC	CALCA	ENSG00000110680.14	transcript	ENST00000331587.9	protein_coding	1/3			chr11	TogoVar
CALCOCO2_chr17_48826035_48870245	48845371	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(75): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA20129.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 others(5): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0002t0023 a0002c0002t0026 a0003c0003t0001	a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 others(75): Show a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0169 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0319 a0002c0002t0004g0174 a0002c0002t0004g0224 a0002c0002t0007g0185 a0002c0002t0007g0197 a0002c0002t0017g0308 a0002c0002t0018g0200 a0002c0002t0023g0135 a0002c0002t0026g0183 a0003c0003t0001g0250	78	328	0.2378	-16	c.181 others(33): Show c.181-2657_181-2642delGTGTGTGTGTGTGTGT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCRL_chr2_187336964_187453252	187341096	CATATATA others(9): Show CATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01256.hp1 HG01258.hp1 others(17): Show HG00408.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01928.hp1 HG01978.hp2 HG02055.hp2 HG02258.hp2 HG02622.hp1 HG02717.hp1 HG03490.hp1 HG03579.hp1 HG04115.hp1 NA18944.hp2 NA18947.hp2 NA18971.hp2 NA18986.hp2 NA19054.hp2 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0002t0005	a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0131 others(17): Show a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0002g0216 a0001c0001t0002g0240 a0001c0001t0002g0249 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0003g0273 a0001c0001t0003g0315 a0001c0001t0004g0155 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0028g0246 a0001c0002t0005g0283	20	344	0.0581	-16	c.50 others(27): Show c.5072_*5087delATATATATATATATAT	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding		867		chr2	TogoVar
CALCRL_chr2_187336964_187453252	187401950	AGGAAGAA others(9): Show AGGAAGAAAGGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	344	0.0029	-16	c.-29 others(37): Show c.-292-14210_-292-14195delCTTCTTCCTTTCTTCC	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding	1/14			chr2	TogoVar
CALCRL_chr2_187336964_187453252	187442070	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG03486.hp1 HG01081.hp2 HG01169.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0025 a0001c0001t0026 a0001c0001t0012 a0001c0001t0025 a0001c0001t0026	a0001c0001t0012g0193 a0001c0001t0025g0192 a0001c0001t0026g0194 a0001c0001t0012g0193 a0001c0001t0025g0192 a0001c0001t0026g0194	3	344	0.0087	-16	c.-29 others(35): Show c.-293+5953_-293+5968delTATATATATATATATA	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding	1/14			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)