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.

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
CSMD1_chr8_2930361_4999914	3384719	TAATATTT others(14): Show TAATATTTATATATATTATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0104 a0012c0104	a0012c0104t0071 a0012c0104t0071	a0012c0104t0071g0058 a0012c0104t0071g0058	1	126	0.0079	-21	c.278 others(40): Show c.2782+2754_2782+2774delTATATAATATATATAAATATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3729941	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01071.hp2 others(21): Show HG00099.hp1 HG00735.hp1 HG01071.hp2 HG01123.hp2 HG01243.hp2 HG01261.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp2 HG03834.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA19043.hp2 NA19074.hp2 NA19090.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0011 a0021 a0028 a0030 a0035 a0039	a0001c0002 a0001c0003 a0001c0005 others(19): Show a0001c0002 a0001c0003 a0001c0005 a0001c0040 a0001c0043 a0001c0047 a0001c0050 a0001c0059 a0001c0079 a0001c0090 a0001c0102 a0001c0108 a0002c0075 a0002c0091 a0003c0034 a0004c0086 a0011c0110 a0021c0016 a0028c0097 a0030c0052 a0035c0098 a0039c0009	a0001c0002t0002 a0001c0002t0061 a0001c0003t0008 others(21): Show a0001c0002t0002 a0001c0002t0061 a0001c0003t0008 a0001c0003t0013 a0001c0005t0002 a0001c0040t0019 a0001c0043t0031 a0001c0047t0014 a0001c0050t0053 a0001c0059t0001 a0001c0079t0072 a0001c0090t0001 a0001c0102t0005 a0001c0108t0054 a0002c0075t0026 a0002c0091t0002 a0003c0034t0030 a0004c0086t0002 a0011c0110t0074 a0021c0016t0048 a0028c0097t0018 a0030c0052t0049 a0035c0098t0025 a0039c0009t0001	a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0003t0008g0053 others(21): Show a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0005t0002g0111 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0059t0001g0036 a0001c0079t0072g0113 a0001c0090t0001g0027 a0001c0102t0005g0034 a0001c0108t0054g0074 a0002c0075t0026g0051 a0002c0091t0002g0114 a0003c0034t0030g0038 a0004c0086t0002g0118 a0011c0110t0074g0082 a0021c0016t0048g0106 a0028c0097t0018g0089 a0030c0052t0049g0098 a0035c0098t0025g0019 a0039c0009t0001g0002	24	126	0.1905	-21	c.932 others(40): Show c.932-21471_932-21451delGTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3817252	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 HG03017.hp2 HG02258.hp2 HG02647.hp2 HG03017.hp2	a0001 a0002 a0036 a0001 a0002 a0036	a0001c0115 a0002c0084 a0036c0100 a0001c0115 a0002c0084 a0036c0100	a0001c0115t0042 a0002c0084t0018 a0036c0100t0017 a0001c0115t0042 a0002c0084t0018 a0036c0100t0017	a0001c0115t0042g0055 a0002c0084t0018g0087 a0036c0100t0017g0121 a0001c0115t0042g0055 a0002c0084t0018g0087 a0036c0100t0017g0121	3	126	0.0238	-21	c.819 others(40): Show c.819-63231_819-63211delAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4138044	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01074.hp1 others(25): Show HG00423.hp1 HG00438.hp1 HG01074.hp1 HG01123.hp1 HG01261.hp2 HG01884.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02647.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18971.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18995.hp2 NA19074.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0008 a0013 a0014 a0016 a0023 a0025 a0032 a0034 a0038 a0039	a0001c0001 a0001c0003 a0001c0005 others(25): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0017 a0001c0026 a0001c0040 a0001c0046 a0001c0068 a0001c0090 a0001c0094 a0001c0111 a0001c0114 a0002c0036 a0002c0053 a0002c0060 a0002c0070 a0003c0058 a0008c0008 a0013c0027 a0014c0010 a0016c0063 a0023c0095 a0025c0096 a0032c0011 a0034c0055 a0038c0066 a0039c0009	a0001c0001t0002 a0001c0003t0013 a0001c0005t0002 others(25): Show a0001c0001t0002 a0001c0003t0013 a0001c0005t0002 a0001c0006t0060 a0001c0017t0005 a0001c0026t0006 a0001c0040t0019 a0001c0046t0073 a0001c0068t0015 a0001c0090t0001 a0001c0094t0002 a0001c0111t0045 a0001c0114t0003 a0002c0036t0029 a0002c0053t0022 a0002c0060t0006 a0002c0070t0046 a0003c0058t0057 a0008c0008t0082 a0013c0027t0003 a0014c0010t0070 a0016c0063t0010 a0023c0095t0002 a0025c0096t0067 a0032c0011t0065 a0034c0055t0034 a0038c0066t0010 a0039c0009t0001	a0001c0001t0002g0102 a0001c0003t0013g0026 a0001c0005t0002g0111 others(25): Show a0001c0001t0002g0102 a0001c0003t0013g0026 a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0017t0005g0003 a0001c0026t0006g0093 a0001c0040t0019g0123 a0001c0046t0073g0091 a0001c0068t0015g0049 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0111t0045g0063 a0001c0114t0003g0119 a0002c0036t0029g0009 a0002c0053t0022g0041 a0002c0060t0006g0094 a0002c0070t0046g0092 a0003c0058t0057g0117 a0008c0008t0082g0126 a0013c0027t0003g0099 a0014c0010t0070g0084 a0016c0063t0010g0045 a0023c0095t0002g0124 a0025c0096t0067g0116 a0032c0011t0065g0101 a0034c0055t0034g0047 a0038c0066t0010g0032 a0039c0009t0001g0002	28	126	0.2222	-21	c.416 others(42): Show c.416-105966_416-105946delAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4402793	CTTTTTTC others(14): Show CTTTTTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02129.hp2 HG02559.hp2 others(5): Show HG01123.hp1 HG02129.hp2 HG02559.hp2 HG02572.hp1 HG03098.hp2 NA19043.hp1 NA19074.hp1 NA19090.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0011 a0033	a0001c0007 a0001c0043 a0001c0093 others(5): Show a0001c0007 a0001c0043 a0001c0093 a0001c0102 a0002c0076 a0008c0008 a0011c0110 a0033c0042	a0001c0007t0032 a0001c0043t0031 a0001c0093t0009 others(5): Show a0001c0007t0032 a0001c0043t0031 a0001c0093t0009 a0001c0102t0005 a0002c0076t0035 a0008c0008t0082 a0011c0110t0074 a0033c0042t0004	a0001c0007t0032g0033 a0001c0043t0031g0044 a0001c0093t0009g0007 others(5): Show a0001c0007t0032g0033 a0001c0043t0031g0044 a0001c0093t0009g0007 a0001c0102t0005g0034 a0002c0076t0035g0014 a0008c0008t0082g0126 a0011c0110t0074g0082 a0033c0042t0004g0004	8	126	0.0635	-21	c.415 others(40): Show c.415+17139_415+17159delAAAAAAAAAAAAAAGAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4484980	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp2 HG01243.hp1 HG03195.hp2	a0005 a0013 a0005 a0013	a0005c0064 a0013c0027 a0005c0064 a0013c0027	a0005c0064t0051 a0013c0027t0003 a0005c0064t0051 a0013c0027t0003	a0005c0064t0051g0078 a0013c0027t0003g0099 a0005c0064t0051g0078 a0013c0027t0003g0099	2	126	0.0159	-21	c.303 others(40): Show c.303-64936_303-64916delTTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4637644	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18984.hp2 HG02258.hp1 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0114 a0001c0003 a0001c0114	a0001c0003t0013 a0001c0114t0003 a0001c0003t0013 a0001c0114t0003	a0001c0003t0013g0026 a0001c0114t0003g0119 a0001c0003t0013g0026 a0001c0114t0003g0119	2	126	0.0159	-21	c.86- others(33): Show c.86-107_86-87delAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4707886	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02055.hp1 others(14): Show HG01081.hp1 HG01243.hp1 HG02055.hp1 HG02572.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA18984.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0008 a0014 a0017 a0018 a0019 a0031 a0033 a0038	a0001c0003 a0001c0019 a0001c0085 others(14): Show a0001c0003 a0001c0019 a0001c0085 a0002c0054 a0002c0078 a0003c0014 a0005c0064 a0006c0083 a0006c0116 a0008c0067 a0014c0010 a0017c0106 a0018c0044 a0019c0018 a0031c0069 a0033c0042 a0038c0066	a0001c0003t0013 a0001c0019t0078 a0001c0085t0020 others(14): Show a0001c0003t0013 a0001c0019t0078 a0001c0085t0020 a0002c0054t0079 a0002c0078t0044 a0003c0014t0055 a0005c0064t0051 a0006c0083t0004 a0006c0116t0004 a0008c0067t0059 a0014c0010t0070 a0017c0106t0012 a0018c0044t0064 a0019c0018t0058 a0031c0069t0043 a0033c0042t0004 a0038c0066t0010	a0001c0003t0013g0026 a0001c0019t0078g0105 a0001c0085t0020g0060 others(14): Show a0001c0003t0013g0026 a0001c0019t0078g0105 a0001c0085t0020g0060 a0002c0054t0079g0096 a0002c0078t0044g0064 a0003c0014t0055g0056 a0005c0064t0051g0078 a0006c0083t0004g0006 a0006c0116t0004g0039 a0008c0067t0059g0079 a0014c0010t0070g0084 a0017c0106t0012g0042 a0018c0044t0064g0085 a0019c0018t0058g0068 a0031c0069t0043g0100 a0033c0042t0004g0004 a0038c0066t0010g0032	17	126	0.1349	-21	c.86- others(38): Show c.86-70349_86-70329delTTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113301055	GATGTTCA others(14): Show GATGTTCATGTATGATTCATAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02717.hp1 HG03041.hp2 others(1): Show HG00741.hp1 HG02717.hp1 HG03041.hp2 HG03225.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0012 a0005c0013 others(1): Show a0001c0001 a0005c0012 a0005c0013 a0008c0014	a0001c0001t0001 a0005c0012t0001 a0005c0013t0001 others(1): Show a0001c0001t0001 a0005c0012t0001 a0005c0013t0001 a0008c0014t0005	a0001c0001t0001g0046 a0005c0012t0001g0038 a0005c0013t0001g0039 others(1): Show a0001c0001t0001g0046 a0005c0012t0001g0038 a0005c0013t0001g0039 a0008c0014t0005g0040	4	80	0.0500	-21	c.401 others(40): Show c.401+13495_401+13515delGTATGAATCATACATGAACAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	2/70			chr8	TogoVar
CSN1S1_chr4_69926068_69951574	69943163	ATATTATT others(14): Show ATATTATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03688.hp2 HG02602.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	448	0.0045	-21	c.402 others(36): Show c.402+607_402+627delTTATTATTATTATTATTATTA	CSN1S1	ENSG00000126545.14	transcript	ENST00000246891.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CSNK1G1_chr15_64160525_64361173	64277809	TTAATATT others(14): Show TTAATATTGATATATTTAATAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG01934.hp1 others(2): Show HG00323.hp2 HG01261.hp1 HG01934.hp1 HG02698.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 others(2): Show a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0114	5	176	0.0284	-21	c.182 others(40): Show c.182-18589_182-18569delTTATTAAATATATCAATATTA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSNK2A1_chr20_467498_548790	485066	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0312 a0001c0001t0035g0312	1	316	0.0032	-21	c.106 others(39): Show c.1061-1011_1061-991delTTTTTTTTTTTTTTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58155788	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGGCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG03017.hp2 NA18612.hp1 others(10): Show HG02155.hp1 HG03017.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp2 NA18985.hp2 NA18987.hp2 NA18991.hp2 NA18994.hp1 NA19000.hp2 NA19012.hp2 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 others(10): Show a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296	13	400	0.0325	-21	c.25 others(32): Show c.2562_*2582delCCCAGCCACACACACACACAC	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		2118		chr16	TogoVar
CSRNP3_chr2_165464698_165694407	165520770	TTATATAT others(14): Show TTATATATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 NA20905.hp2 HG02257.hp1 HG02886.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0069 a0001c0001t0003 a0001c0001t0007 a0001c0001t0069	a0001c0001t0003g0053 a0001c0001t0007g0203 a0001c0001t0069g0035 a0001c0001t0003g0053 a0001c0001t0007g0203 a0001c0001t0069g0035	3	246	0.0122	-21	c.-24 others(38): Show c.-24+2823_-24+2843delTATATATATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST2_chr20_23818769_23831729	23823919	TGGGGAGA others(14): Show TGGGGAGACCTCCCACAGGGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00642.hp2 others(34): Show HG00408.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG02015.hp1 HG02074.hp2 HG02080.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG02818.hp2 HG02895.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG04184.hp2 NA18944.hp1 NA18950.hp1 NA18962.hp2 NA18963.hp1 NA18977.hp1 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19055.hp2 NA19072.hp1 NA19081.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0003 a0004c0004t0003 a0002c0002t0003 a0004c0004t0003	a0002c0002t0003g0005 a0002c0002t0003g0027 a0002c0002t0003g0029 others(1): Show a0002c0002t0003g0005 a0002c0002t0003g0027 a0002c0002t0003g0029 a0004c0004t0003g0012	37	470	0.0787	-21	c.80 others(29): Show c.80_*100delCACCCTGTGGGAGGTCTCCCC	CST2	ENSG00000170369.4	transcript	ENST00000304725.3	protein_coding	3/3	80		chr20	TogoVar
CSTB_chr21_43768950_43781308	43771999	GGGTTAAA others(14): Show GGGTTAAACCAGCGGGGGGTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01928.hp1 HG02145.hp2 others(12): Show HG01496.hp2 HG01928.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02698.hp1 HG02818.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0002g0023 a0001c0002t0001g0017	15	452	0.0332	-21	c.21 others(32): Show c.2182_*2202delGAACCCCCCGCTGGTTTAACC	CSTB	ENSG00000160213.10	transcript	ENST00000291568.7	protein_coding		1950		chr21	TogoVar
CSTF3_chr11_33079584_33166480	33163902	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	360	0.0028	-21	c.-25 others(32): Show c.-2598_-2578delTATATATATATATATATATAT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2423		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163917	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	360	0.0028	-21	c.-26 others(32): Show c.-2613_-2593delAAAAAAAAAAAAATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2438		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163919	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	360	0.0028	-21	c.-26 others(32): Show c.-2615_-2595delAAAAAAAAAAAAAAATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2440		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163921	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	360	0.0028	-21	c.-26 others(32): Show c.-2617_-2597delAAAAAAAAAAAAAAAAATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2442		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163923	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01516.hp1 HG01517.hp2 HG00423.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0089 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0089	3	360	0.0083	-21	c.-26 others(32): Show c.-2619_-2599delAAAAAAAAAAAAAAAAAAATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2444		chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47138979	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	224	0.0045	-21	c.365 others(38): Show c.365+1263_365+1283delAAAAAAAAAAAAAAAAAAAAA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CT47A6_chrX_120953165_120966487	120956771	TTTTTATT others(14): Show TTTTTATTTTTATTTTTTCAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00735.hp1 others(28): Show HG00323.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01358.hp1 HG01517.hp1 HG02056.hp1 HG02109.hp2 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG03139.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp1 NA19043.hp1 NA19091.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0009 a0010	a0001c0001 a0003c0007 a0008c0013 others(2): Show a0001c0001 a0003c0007 a0008c0013 a0009c0014 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0007t0007 a0008c0013t0001 a0009c0014t0001 a0010c0008t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0002g0003 a0001c0001t0003g0006 a0001c0001t0004g0013 a0003c0007t0007g0029 a0008c0013t0001g0025 a0009c0014t0001g0026 a0010c0008t0005g0014	31	110	0.2818	-21	c.15 others(32): Show c.1545_*1565delTCTGAAAAAATAAAAATAAAA	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding		1393		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956771	TTTTTATT others(14): Show TTTTTATTTTTATTTTTTCAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	-21	c.-44 others(30): Show c.-447_-427delTCTGAAAAAATAAAAATAAAA	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding		172		chrX	TogoVar
CTAGE1_chr18_22408599_22422915	22422239	ATCAAAAG others(14): Show ATCAAAAGTGGAATAAACAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02896.hp2 HG02257.hp1 HG02630.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0008 a0001c0003 a0001c0004 a0002c0008	a0001c0003t0001 a0001c0004t0005 a0002c0008t0001 a0001c0003t0001 a0001c0004t0005 a0002c0008t0001	a0001c0003t0001g0000 a0001c0004t0005g0000 a0002c0008t0001g0000 a0001c0003t0001g0000 a0001c0004t0005g0000 a0002c0008t0001g0000	3	480	0.0063	-21	c.-44 others(32): Show c.-4449_-4429delATTTGTTTATTCCACTTTTGA	CTAGE1	ENSG00000212710.5	transcript	ENST00000391403.4	protein_coding		4325		chr18	TogoVar
CTCF_chr16_67557526_67644177	67629746	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03654.hp2 HG03486.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0140 a0001c0002t0003g0142 a0001c0001t0003g0140 a0001c0002t0003g0142	2	168	0.0119	-21	c.183 others(38): Show c.1837+239_1837+259delTTTTTTTTTTTTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTIF_chr18_48534031_48868217	48664713	CCTGGAAT others(14): Show CCTGGAATCCCTCCATTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(55): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG04115.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18945.hp2 NA18952.hp2 NA18972.hp1 NA18972.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19068.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0014 a0002c0004 a0002c0012 a0002c0013 a0005c0010 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0044 a0001c0002t0001 a0001c0002t0025 a0001c0002t0029 a0001c0002t0034 a0001c0002t0045 a0001c0002t0049 a0001c0003t0001 a0001c0003t0007 a0001c0011t0013 a0001c0014t0028 a0002c0004t0005 a0002c0004t0010 a0002c0004t0014 a0002c0004t0016 a0002c0004t0024 a0002c0012t0002 a0002c0013t0001 a0005c0010t0001 a0006c0006t0001	a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 others(55): Show a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0137 a0001c0001t0003g0004 a0001c0001t0003g0013 a0001c0001t0003g0064 a0001c0001t0003g0098 a0001c0001t0004g0082 a0001c0001t0005g0067 a0001c0001t0005g0104 a0001c0001t0005g0109 a0001c0001t0009g0003 a0001c0001t0009g0076 a0001c0001t0010g0078 a0001c0001t0010g0093 a0001c0001t0012g0091 a0001c0001t0017g0100 a0001c0001t0017g0112 a0001c0001t0021g0141 a0001c0001t0022g0009 a0001c0001t0024g0107 a0001c0001t0030g0108 a0001c0001t0031g0018 a0001c0001t0033g0092 a0001c0001t0044g0144 a0001c0002t0001g0106 a0001c0002t0025g0130 a0001c0002t0029g0110 a0001c0002t0034g0015 a0001c0002t0045g0002 a0001c0002t0049g0072 a0001c0003t0001g0035 a0001c0003t0001g0044 a0001c0003t0001g0080 a0001c0003t0001g0116 a0001c0003t0001g0121 a0001c0003t0007g0010 a0001c0003t0007g0052 a0001c0011t0013g0086 a0001c0014t0028g0095 a0002c0004t0005g0054 a0002c0004t0010g0085 a0002c0004t0014g0114 a0002c0004t0016g0012 a0002c0004t0016g0041 a0002c0004t0024g0113 a0002c0012t0002g0123 a0002c0013t0001g0016 a0005c0010t0001g0111 a0006c0006t0001g0099	58	144	0.4028	-21	c.431 others(36): Show c.431+166_431+186delGAATCCCTCCATTTCCCTCTG	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48867822	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02559.hp1 others(7): Show HG01884.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02965.hp2 HG06807.hp2 NA19011.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0026 a0001c0001t0035 a0001c0001t0038 a0001c0001t0050 a0002c0004t0010	a0001c0001t0002g0137 a0001c0001t0004g0055 a0001c0001t0004g0059 others(7): Show a0001c0001t0002g0137 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0004g0082 a0001c0001t0022g0009 a0001c0001t0026g0061 a0001c0001t0035g0058 a0001c0001t0038g0136 a0001c0001t0050g0124 a0002c0004t0010g0085	10	144	0.0694	-21	c.82 others(32): Show c.8264_*8284delAATAATAATAATAATAATAAT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding		4606		chr18	TogoVar
CTLA4_chr2_203862771_203878965	203873362	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0001 a0002c0002t0031g0001	1	420	0.0024	-21	c.55 others(30): Show c.552_*572delATATATATATATATATATATT	CTLA4	ENSG00000163599.18	transcript	ENST00000648405.2	protein_coding	4/4	552	INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79893990	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0045 a0001c0016t0001g0045	1	68	0.0147	-21	c.853 others(40): Show c.853-15549_853-15529delTTCTTCTTCTTCTTCTTCTTC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80075631	TACATGTA others(14): Show TACATGTATAAATATTATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01106.hp2 others(7): Show HG00642.hp2 HG00735.hp2 HG01106.hp2 HG01167.hp1 HG01884.hp1 HG02148.hp2 HG02965.hp1 HG02970.hp1 HG03927.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0002 a0003c0015t0001	a0001c0001t0001g0012 a0001c0001t0001g0052 a0001c0001t0002g0066 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0052 a0001c0001t0002g0066 a0001c0002t0001g0035 a0001c0002t0001g0047 a0001c0002t0002g0015 a0001c0003t0001g0018 a0001c0003t0001g0038 a0001c0005t0002g0063 a0003c0015t0001g0014	10	68	0.1471	-21	c.105 others(44): Show c.1056+165836_1056+165856delCATGTATAAATATTATAAAAA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66367868	AATAATAA others(14): Show AATAATAATAATAATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0006 a0001c0011t0009 a0001c0001t0006 a0001c0011t0009	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0011t0009g0017 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0011t0009g0017	3	46	0.0652	-21	c.173 others(42): Show c.1732+11263_1732+11283delAATAATAATTATTATTATTAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66367871	AATAATAA others(14): Show AATAATAATAATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	1	46	0.0217	-21	c.173 others(42): Show c.1732+11260_1732+11280delAATAATAATAATTATTATTAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66367874	AATAATAA others(14): Show AATAATAATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	46	0.0217	-21	c.173 others(42): Show c.1732+11257_1732+11277delAATAATAATAATAATTATTAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66367877	AATAATTA others(14): Show AATAATTATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0005 a0001c0004t0007g0005	1	46	0.0217	-21	c.173 others(42): Show c.1732+11254_1732+11274delAATAATAATAATAATAATTAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66537551	AAATTATA others(14): Show AAATTATAAATGTATTTATAAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0032 a0001c0003t0011g0032	1	46	0.0217	-21	c.137 others(42): Show c.1375-16799_1375-16779delATTATAAATACATTTATAATT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66685341	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03195.hp1 HG01243.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0015 a0002c0002t0005 a0001c0007t0015 a0002c0002t0005	a0001c0007t0015g0016 a0002c0002t0005g0014 a0001c0007t0015g0016 a0002c0002t0005g0014	2	46	0.0435	-21	c.128 others(42): Show c.1282-63578_1282-63558delAAAAAAAAAAATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66685343	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG02965.hp1 others(3): Show HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03540.hp1 HG06807.hp1 NA18960.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0004c0008 a0005c0010	a0001c0001t0003 a0001c0001t0012 a0001c0003t0014 others(3): Show a0001c0001t0003 a0001c0001t0012 a0001c0003t0014 a0002c0002t0017 a0004c0008t0005 a0005c0010t0002	a0001c0001t0003g0023 a0001c0001t0012g0038 a0001c0003t0014g0025 others(3): Show a0001c0001t0003g0023 a0001c0001t0012g0038 a0001c0003t0014g0025 a0002c0002t0017g0040 a0004c0008t0005g0033 a0005c0010t0002g0021	6	46	0.1304	-21	c.128 others(42): Show c.1282-63580_1282-63560delAAAAAAAAAAAAATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66685345	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02145.hp2 HG02280.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0002 a0003c0009t0003 a0001c0001t0002 a0003c0009t0003	a0001c0001t0002g0024 a0003c0009t0003g0036 a0001c0001t0002g0024 a0003c0009t0003g0036	2	46	0.0435	-21	c.128 others(42): Show c.1282-63582_1282-63562delAAAAAAAAAAAAAAATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66781086	AAGCCTCA others(14): Show AAGCCTCAAACACTAAGAGATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02717.hp2 others(5): Show HG02145.hp2 HG02280.hp1 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03540.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0009 a0005c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0014 a0002c0002t0004 a0003c0009t0003 a0005c0010t0002	a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0003g0023 others(5): Show a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0006g0027 a0001c0003t0014g0025 a0002c0002t0004g0028 a0003c0009t0003g0036 a0005c0010t0002g0021	8	46	0.1739	-21	c.104 others(40): Show c.1048-5583_1048-5563delCATCTCTTAGTGTTTGAGGCT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67437451	GTACCCCA others(14): Show GTACCCCAATAAATTTAATAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp2 HG06807.hp2 HG02965.hp2 HG03540.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0002c0002t0004 a0001c0001t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0002g0009 a0002c0002t0003g0039 a0002c0002t0004g0028 a0001c0001t0002g0009 a0002c0002t0003g0039 a0002c0002t0004g0028	3	46	0.0652	-21	c.579 others(40): Show c.579+84370_579+84390delTTTATTAAATTTATTGGGGTA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNBL1_chr20_37689030_37877118	37854551	ATATTATT others(14): Show ATATTATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03927.hp2 NA18945.hp1 others(1): Show HG02132.hp2 HG03927.hp2 NA18945.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0170	4	266	0.0150	-21	c.139 others(40): Show c.1393-5313_1393-5293delATTATTATTATTATTATTATT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNND2_chr5_10966836_11909446	11876216	GAGGGAGG others(14): Show GAGGGAGGAGGCGGGAGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0002 a0001c0007t0001g0002	1	26	0.0385	-21	c.37+ others(38): Show c.37+27580_37+27600delGCTGCCTCCCGCCTCCTCCCT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTSB_chr8_11837524_11873087	11839668	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp1 others(24): Show HG00099.hp1 HG00639.hp1 HG00738.hp1 HG01074.hp1 HG01106.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02698.hp1 HG02922.hp1 HG03195.hp1 HG03239.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 NA18906.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0008	a0001c0001t0002 a0001c0001t0005 a0001c0001t0045 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0045 a0001c0001t0083 a0001c0001t0084 a0001c0003t0005 a0001c0003t0047 a0001c0003t0048 a0001c0003t0089 a0001c0003t0090 a0001c0004t0097 a0003c0008t0020 a0003c0008t0046	a0001c0001t0002g0002 a0001c0001t0005g0284 a0001c0001t0045g0019 others(22): Show a0001c0001t0002g0002 a0001c0001t0005g0284 a0001c0001t0045g0019 a0001c0001t0083g0259 a0001c0001t0084g0236 a0001c0003t0005g0134 a0001c0003t0005g0196 a0001c0003t0005g0255 a0001c0003t0005g0281 a0001c0003t0005g0300 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0336 a0001c0003t0005g0360 a0001c0003t0047g0311 a0001c0003t0047g0331 a0001c0003t0048g0339 a0001c0003t0048g0358 a0001c0003t0089g0330 a0001c0003t0090g0322 a0001c0004t0097g0365 a0003c0008t0020g0015 a0003c0008t0020g0162 a0003c0008t0020g0167 a0003c0008t0046g0014	27	438	0.0616	-21	c.54 others(32): Show c.5436_*5456delTTTTTTTTTTTTTTTTTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		2855		chr8	TogoVar
CTSB_chr8_11837524_11873087	11870742	CAGGAAAG others(14): Show CAGGAAAGCTTCATGGAGAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	438	0.0023	-21	c.-27 others(32): Show c.-2788_-2768delCTTTCTCCATGAAGCTTTCCT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		2656		chr8	TogoVar
CTSD_chr11_1747755_1768927	1766606	AGTGAGGT others(14): Show AGTGAGGTTCTGTGGTTCTCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	386	0.0026	-21	c.-27 others(32): Show c.-2768_-2748delCCGAGAACCACAGAACCTCAC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		2680		chr11	TogoVar
CTSH_chr15_78916058_78950046	78945119	CGGAGCGA others(14): Show CGGAGCGAGCGCGGGGCGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	414	0.0024	-21	c.-15 others(30): Show c.-159_-139delACCCCGCCCCGCGCTCGCTCC	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding		74		chr15	TogoVar
CTSL_chr9_87721119_87736469	87734804	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG03139.hp2 HG00735.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0045 a0001c0001t0001g0048	2	388	0.0052	-21	c.36 others(32): Show c.3698_*3718delTTTTTTTTTTTTTTTTTTTTT	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding		3336		chr9	TogoVar
CUBN_chr10_16818966_17134811	16902238	CTATATAT others(14): Show CTATATATATTTGTATATATAG	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18998.hp1 NA18977.hp2 NA18998.hp1	a0002 a0002	a0002c0088 a0002c0093 a0002c0088 a0002c0093	a0002c0088t0003 a0002c0093t0003 a0002c0088t0003 a0002c0093t0003	a0002c0088t0003g0013 a0002c0093t0003g0061 a0002c0088t0003g0013 a0002c0093t0003g0061	2	192	0.0104	-21	c.806 others(38): Show c.8063-800_8063-780delCTATATATACAAATATATATA	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	51/66			chr10	TogoVar
CUL5_chr11_108003898_108112761	108048648	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(178): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0009 others(1): Show a0001c0001 a0001c0006 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(14): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0006t0001 a0001c0006t0023 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(173): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0008g0008 a0001c0001t0008g0248 a0001c0001t0008g0266 a0001c0001t0008g0286 a0001c0001t0012g0123 a0001c0001t0012g0144 a0001c0001t0012g0224 a0001c0001t0016g0219 a0001c0001t0016g0263 a0001c0001t0016g0264 a0001c0001t0017g0237 a0001c0001t0017g0245 a0001c0001t0017g0282 a0001c0001t0020g0097 a0001c0001t0021g0189 a0001c0001t0022g0190 a0001c0001t0025g0296 a0001c0001t0026g0104 a0001c0001t0027g0273 a0001c0001t0029g0103 a0001c0001t0031g0154 a0001c0006t0001g0115 a0001c0006t0023g0116 a0001c0009t0001g0252 a0002c0008t0001g0141	181	312	0.5801	-21	c.235 others(38): Show c.235-1226_235-1206delTTTTTTTTTTTTTTTTTTTTT	CUL5	ENSG00000166266.14	transcript	ENST00000393094.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 6287 hits)