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 (≤).

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⚠️ 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
CSMD1_chr8_2930361_4999914	2930963	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0006 a0002c0051t0006	a0002c0051t0006g0081 a0002c0051t0006g0081	1	126	0.0079	17	c.76 others(28): Show c.7621_*7622insCTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding		4397		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02572.hp1 HG03209.hp2 others(3): Show HG00735.hp1 HG02572.hp1 HG03209.hp2 HG03710.hp1 NA19074.hp1 NA19090.hp2	a0001 a0002 a0021 others(1): Show a0001 a0002 a0021 a0033	a0001c0006 a0002c0060 a0002c0076 others(3): Show a0001c0006 a0002c0060 a0002c0076 a0002c0092 a0021c0016 a0033c0042	a0001c0006t0060 a0002c0060t0006 a0002c0076t0035 others(3): Show a0001c0006t0060 a0002c0060t0006 a0002c0076t0035 a0002c0092t0001 a0021c0016t0048 a0033c0042t0004	a0001c0006t0060g0103 a0002c0060t0006g0094 a0002c0076t0035g0014 others(3): Show a0001c0006t0060g0103 a0002c0060t0006g0094 a0002c0076t0035g0014 a0002c0092t0001g0011 a0021c0016t0048g0106 a0033c0042t0004g0004	6	126	0.0476	17	c.591 others(36): Show c.5914+2521_5914+2537dupAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3175479	T T	TTCCTTCC others(10): Show TTCCTTCCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01934.hp1 HG01261.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0108 a0001c0003 a0001c0108	a0001c0003t0019 a0001c0108t0054 a0001c0003t0019 a0001c0108t0054	a0001c0003t0019g0107 a0001c0108t0054g0074 a0001c0003t0019g0107 a0001c0108t0054g0074	2	126	0.0159	17	c.572 others(36): Show c.5725+5630_5725+5631insCAGGCAGGAAGGAAGGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	37/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	126	0.0079	17	c.156 others(38): Show c.1561+29402_1561+29403insAAAAATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3643700	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0073 a0001c0046t0073	a0001c0046t0073g0091 a0001c0046t0073g0091	1	126	0.0079	17	c.101 others(38): Show c.1010-26920_1010-26904dupTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3660962	A A	AGCAGAGG others(10): Show AGCAGAGGTGAGGGATTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0078 a0001c0019t0078	a0001c0019t0078g0105 a0001c0019t0078g0105	1	126	0.0079	17	c.101 others(38): Show c.1010-44182_1010-44166dupCAATCCCTCACCTCTGC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3670739	G G	GTATGCAT others(10): Show GTATGCATAGGGGATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00735.hp1 others(10): Show HG00423.hp2 HG00438.hp2 HG00735.hp1 HG01071.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG03209.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18979.hp2 NA19043.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0021 a0034	a0001c0001 a0001c0004 a0001c0020 others(10): Show a0001c0001 a0001c0004 a0001c0020 a0001c0021 a0001c0080 a0001c0081 a0001c0093 a0002c0012 a0002c0041 a0002c0089 a0005c0065 a0021c0016 a0034c0055	a0001c0001t0002 a0001c0004t0063 a0001c0020t0016 others(10): Show a0001c0001t0002 a0001c0004t0063 a0001c0020t0016 a0001c0021t0005 a0001c0080t0040 a0001c0081t0037 a0001c0093t0009 a0002c0012t0017 a0002c0041t0027 a0002c0089t0001 a0005c0065t0023 a0021c0016t0048 a0034c0055t0034	a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0020t0016g0065 others(10): Show a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0093t0009g0007 a0002c0012t0017g0088 a0002c0041t0027g0018 a0002c0089t0001g0037 a0005c0065t0023g0050 a0021c0016t0048g0106 a0034c0055t0034g0047	13	126	0.1032	17	c.100 others(38): Show c.1009+37674_1009+37675insTATATCCCCTATGCATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3670739	G G	GTATGTAT others(10): Show GTATGTATAGGGGATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02723.hp1 HG02055.hp2 HG02572.hp2 HG02723.hp1	a0003 a0007 a0024 a0003 a0007 a0024	a0003c0057 a0007c0029 a0024c0038 a0003c0057 a0007c0029 a0024c0038	a0003c0057t0080 a0007c0029t0011 a0024c0038t0075 a0003c0057t0080 a0007c0029t0011 a0024c0038t0075	a0003c0057t0080g0075 a0007c0029t0011g0054 a0024c0038t0075g0067 a0003c0057t0080g0075 a0007c0029t0011g0054 a0024c0038t0075g0067	3	126	0.0238	17	c.100 others(38): Show c.1009+37674_1009+37675insTATATCCCCTATACATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671031	C C	CATATGGG others(10): Show CATATGGGATATATATGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0104 a0012c0104	a0012c0104t0071 a0012c0104t0071	a0012c0104t0071g0058 a0012c0104t0071g0058	1	126	0.0079	17	c.100 others(38): Show c.1009+37366_1009+37382dupACATATATATCCCATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671047	G G	GTATATGG others(10): Show GTATATGGGATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02258.hp1 HG02886.hp1 HG01261.hp2 HG02258.hp1 HG02886.hp1	a0001 a0016 a0001 a0016	a0001c0039 a0001c0114 a0016c0063 a0001c0039 a0001c0114 a0016c0063	a0001c0039t0066 a0001c0114t0003 a0016c0063t0010 a0001c0039t0066 a0001c0114t0003 a0016c0063t0010	a0001c0039t0066g0080 a0001c0114t0003g0119 a0016c0063t0010g0045 a0001c0039t0066g0080 a0001c0114t0003g0119 a0016c0063t0010g0045	3	126	0.0238	17	c.100 others(38): Show c.1009+37366_1009+37367insTATATATATCCCATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp2 HG01934.hp2 others(6): Show HG01074.hp2 HG01123.hp2 HG01934.hp2 HG02056.hp2 HG02683.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0020 a0027	a0001c0003 a0001c0071 a0001c0111 others(6): Show a0001c0003 a0001c0071 a0001c0111 a0002c0037 a0002c0072 a0004c0056 a0004c0099 a0020c0024 a0027c0023	a0001c0003t0008 a0001c0071t0069 a0001c0111t0045 others(6): Show a0001c0003t0008 a0001c0071t0069 a0001c0111t0045 a0002c0037t0009 a0002c0072t0003 a0004c0056t0062 a0004c0099t0014 a0020c0024t0077 a0027c0023t0001	a0001c0003t0008g0053 a0001c0071t0069g0115 a0001c0111t0045g0063 others(6): Show a0001c0003t0008g0053 a0001c0071t0069g0115 a0001c0111t0045g0063 a0002c0037t0009g0046 a0002c0072t0003g0066 a0004c0056t0062g0072 a0004c0099t0014g0020 a0020c0024t0077g0104 a0027c0023t0001g0052	9	126	0.0714	17	c.932 others(34): Show c.932-1206_932-1190dupAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3714561	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG03195.hp2 others(2): Show HG02922.hp1 HG03130.hp1 HG03195.hp2 NA18971.hp2 NA19074.hp1	a0001 a0002 a0013 others(2): Show a0001 a0002 a0013 a0015 a0023	a0001c0026 a0002c0076 a0013c0027 others(2): Show a0001c0026 a0002c0076 a0013c0027 a0015c0062 a0023c0095	a0001c0026t0006 a0002c0076t0035 a0013c0027t0003 others(2): Show a0001c0026t0006 a0002c0076t0035 a0013c0027t0003 a0015c0062t0056 a0023c0095t0002	a0001c0026t0006g0093 a0002c0076t0035g0014 a0013c0027t0003g0099 others(2): Show a0001c0026t0006g0093 a0002c0076t0035g0014 a0013c0027t0003g0099 a0015c0062t0056g0062 a0023c0095t0002g0124	5	126	0.0397	17	c.932 others(34): Show c.932-6087_932-6071dupTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926092	C C	CACACACA others(10): Show CACACACACAAACACCAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0016 a0001c0020t0016	a0001c0020t0016g0065 a0001c0020t0016g0065	1	126	0.0079	17	c.818 others(36): Show c.818+71810_818+71811insATGGTGTTTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4042815	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02683.hp2 HG06807.hp1 HG02647.hp1 HG02683.hp2 HG06807.hp1	a0002 a0003 a0002 a0003	a0002c0035 a0002c0037 a0003c0058 a0002c0035 a0002c0037 a0003c0058	a0002c0035t0047 a0002c0037t0009 a0003c0058t0057 a0002c0035t0047 a0002c0037t0009 a0003c0058t0057	a0002c0035t0047g0076 a0002c0037t0009g0046 a0003c0058t0057g0117 a0002c0035t0047g0076 a0002c0037t0009g0046 a0003c0058t0057g0117	3	126	0.0238	17	c.416 others(36): Show c.416-10733_416-10717dupTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4051866	T T	TTCTTTCC others(10): Show TTCTTTCCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG03579.hp1 HG02965.hp1 HG03516.hp2 HG03579.hp1	a0006 a0017 a0030 a0006 a0017 a0030	a0006c0116 a0017c0106 a0030c0052 a0006c0116 a0017c0106 a0030c0052	a0006c0116t0004 a0017c0106t0012 a0030c0052t0049 a0006c0116t0004 a0017c0106t0012 a0030c0052t0049	a0006c0116t0004g0039 a0017c0106t0012g0042 a0030c0052t0049g0098 a0006c0116t0004g0039 a0017c0106t0012g0042 a0030c0052t0049g0098	3	126	0.0238	17	c.416 others(36): Show c.416-19768_416-19767insGAGAAAGAAAGGAAAGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01243.hp2 HG01934.hp2 others(11): Show HG01071.hp2 HG01243.hp2 HG01934.hp2 HG02280.hp2 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp2 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19060.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0026 a0030 a0035 a0036 a0039	a0001c0003 a0001c0007 a0001c0021 others(11): Show a0001c0003 a0001c0007 a0001c0021 a0001c0047 a0001c0109 a0002c0078 a0003c0034 a0004c0099 a0005c0065 a0026c0082 a0030c0052 a0035c0098 a0036c0100 a0039c0009	a0001c0003t0013 a0001c0007t0001 a0001c0021t0005 others(11): Show a0001c0003t0013 a0001c0007t0001 a0001c0021t0005 a0001c0047t0014 a0001c0109t0038 a0002c0078t0044 a0003c0034t0030 a0004c0099t0014 a0005c0065t0023 a0026c0082t0052 a0030c0052t0049 a0035c0098t0025 a0036c0100t0017 a0039c0009t0001	a0001c0003t0013g0026 a0001c0007t0001g0035 a0001c0021t0005g0012 others(11): Show a0001c0003t0013g0026 a0001c0007t0001g0035 a0001c0021t0005g0012 a0001c0047t0014g0024 a0001c0109t0038g0013 a0002c0078t0044g0064 a0003c0034t0030g0038 a0004c0099t0014g0020 a0005c0065t0023g0050 a0026c0082t0052g0097 a0030c0052t0049g0098 a0035c0098t0025g0019 a0036c0100t0017g0121 a0039c0009t0001g0002	14	126	0.1111	17	c.303 others(36): Show c.303-21047_303-21031dupAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4455929	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0107 a0001c0003t0019g0107	1	126	0.0079	17	c.303 others(36): Show c.303-35881_303-35865dupTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4578332	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02683.hp1 HG02486.hp1 HG02615.hp1 HG02683.hp1	a0001 a0026 a0037 a0001 a0026 a0037	a0001c0021 a0026c0082 a0037c0101 a0001c0021 a0026c0082 a0037c0101	a0001c0021t0005 a0026c0082t0052 a0037c0101t0008 a0001c0021t0005 a0026c0082t0052 a0037c0101t0008	a0001c0021t0005g0012 a0026c0082t0052g0097 a0037c0101t0008g0023 a0001c0021t0005g0012 a0026c0082t0052g0097 a0037c0101t0008g0023	3	126	0.0238	17	c.302 others(36): Show c.302+58993_302+59009dupAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4841911	C C	CAAACAAA others(10): Show CAAACAAAACAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02647.hp1 NA19060.hp1 HG00423.hp2 HG02647.hp1 NA19060.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0089 a0003c0058 a0001c0007 a0002c0089 a0003c0058	a0001c0007t0001 a0002c0089t0001 a0003c0058t0057 a0001c0007t0001 a0002c0089t0001 a0003c0058t0057	a0001c0007t0001g0035 a0002c0089t0001g0037 a0003c0058t0057g0117 a0001c0007t0001g0035 a0002c0089t0001g0037 a0003c0058t0057g0117	3	126	0.0238	17	c.85+ others(36): Show c.85+152420_85+152421insTTTTTTTTGTTTTGTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4912135	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0067 a0008c0067	a0008c0067t0059 a0008c0067t0059	a0008c0067t0059g0079 a0008c0067t0059g0079	1	126	0.0079	17	c.85+ others(34): Show c.85+82196_85+82197insCTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112747962	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0009 a0002c0003t0006g0009	1	80	0.0125	17	c.197 others(38): Show c.1972+52183_1972+52199dupTTTTTTTTTTTTTTTTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153020	A A	AGAAAAGA others(10): Show AGAAAAGAGAAAAGAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0060 a0001c0006t0004g0060	1	80	0.0125	17	c.709 others(36): Show c.709+20701_709+20702insATTTCTTTTCTCTTTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153101	A A	AAAAGAAA others(10): Show AAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02970.hp2 HG02976.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp2	a0002 a0009 a0010 a0002 a0009 a0010	a0002c0003 a0009c0018 a0010c0025 a0002c0003 a0009c0018 a0010c0025	a0002c0003t0006 a0009c0018t0003 a0010c0025t0003 a0002c0003t0006 a0009c0018t0003 a0010c0025t0003	a0002c0003t0006g0009 a0009c0018t0003g0071 a0010c0025t0003g0052 a0002c0003t0006g0009 a0009c0018t0003g0071 a0010c0025t0003g0052	3	80	0.0375	17	c.709 others(36): Show c.709+20620_709+20621insCTTTTCTTTCTTTCTTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113328735	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0028 a0004c0004t0001g0028	1	80	0.0125	17	c.179 others(36): Show c.179-13959_179-13943dupAAAAAAAAAAAAAAAAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542692	A A	ATATGTAT others(10): Show ATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	390	0.0026	17	c.230 others(34): Show c.230+7382_230+7383insATATATATATATACATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542693	T T	TATGTATA others(10): Show TATGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0377 a0001c0001t0002g0381 a0001c0001t0002g0377 a0001c0001t0002g0381	2	390	0.0051	17	c.230 others(34): Show c.230+7381_230+7382insTATATATATATATACAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18942.hp2 HG03130.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0081 a0001c0003t0002g0086 a0001c0002t0001g0081 a0001c0003t0002g0086	2	176	0.0114	17	c.293 others(36): Show c.293-13206_293-13190dupAAAAAAAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238516	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0122 a0001c0001t0010g0122	1	176	0.0057	17	c.292 others(36): Show c.292+12995_292+12996insATATATATATATATATA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1939438	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG02723.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0247 a0001c0002t0002g0055 a0001c0002t0002g0247	2	382	0.0052	17	c.-22 others(28): Show c.-2246_-2245insTTTTTTTTTTTTTTTTT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding		1733		chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1939444	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03209.hp1 HG02280.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0013 a0002c0011t0025 a0001c0001t0013 a0002c0011t0025	a0001c0001t0013g0014 a0002c0011t0025g0013 a0001c0001t0013g0014 a0002c0011t0025g0013	2	382	0.0052	17	c.-22 others(28): Show c.-2240_-2239insTTTTTTTTTTTTTTTTG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding		1727		chr19	TogoVar
CSNK2A1_chr20_467498_548790	485101	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19068.hp1 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0110 a0001c0001t0011g0203 a0001c0001t0001g0110 a0001c0001t0011g0203	2	316	0.0063	17	c.106 others(36): Show c.1061-1026_1061-1025insATATATATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485102	A A	AATAATAA others(10): Show AATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0281 a0001c0001t0015g0281	1	316	0.0032	17	c.106 others(36): Show c.1061-1027_1061-1026insATTATTATTATTATTAT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485103	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02717.hp1 HG01192.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0089 a0001c0001t0009g0228 a0001c0001t0001g0089 a0001c0001t0009g0228	2	316	0.0063	17	c.106 others(36): Show c.1061-1028_1061-1027insATATATATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485105	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0165 a0001c0001t0051g0165	1	316	0.0032	17	c.106 others(36): Show c.1061-1030_1061-1029insATATATATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	490335	C C	CTTTTCTT others(10): Show CTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG03225.hp1 HG02622.hp2 HG02886.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0088 a0001c0001t0035 a0001c0001t0088	a0001c0001t0035g0312 a0001c0001t0035g0313 a0001c0001t0088g0311 a0001c0001t0035g0312 a0001c0001t0035g0313 a0001c0001t0088g0311	3	316	0.0095	17	c.622 others(32): Show c.622-455_622-454insAAAAAAAAAAAAGAAAA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	9/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	490335	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02486.hp2 others(2): Show HG02145.hp2 HG02280.hp1 HG02486.hp2 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0022 a0001c0001t0048 a0001c0001t0016 a0001c0001t0022 a0001c0001t0048	a0001c0001t0016g0027 a0001c0001t0016g0030 a0001c0001t0022g0028 others(2): Show a0001c0001t0016g0027 a0001c0001t0016g0030 a0001c0001t0022g0028 a0001c0001t0022g0029 a0001c0001t0048g0031	5	316	0.0158	17	c.622 others(32): Show c.622-455_622-454insAAAAAAAAAAAAAAAAA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	9/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	523858	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0313 a0001c0001t0035g0313	1	316	0.0032	17	c.-11 others(36): Show c.-110+4058_-110+4074dupTTTTTTTTTTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18963.hp2 NA18993.hp2 others(2): Show HG01981.hp1 NA18963.hp2 NA18993.hp2 NA18995.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 others(2): Show a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0331	5	400	0.0125	17	c.429 others(34): Show c.429+2471_429+2472insATATATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171980	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19066.hp1 NA19087.hp1 others(1): Show HG03017.hp2 NA19066.hp1 NA19087.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0235 a0001c0001t0001g0290 a0001c0001t0002g0308 others(1): Show a0001c0001t0001g0235 a0001c0001t0001g0290 a0001c0001t0002g0308 a0001c0001t0002g0317	4	400	0.0100	17	c.429 others(34): Show c.429+2470_429+2471insTATATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88445275	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01123.hp2 others(12): Show HG01070.hp2 HG01074.hp2 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02300.hp2 NA18955.hp1 NA18971.hp2 NA19004.hp1 NA19005.hp2 NA19085.hp2 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0201 a0001c0004t0001g0203 a0001c0004t0001g0204 others(12): Show a0001c0004t0001g0201 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0214 a0001c0004t0001g0216 a0001c0004t0001g0219 a0001c0004t0001g0221 a0001c0004t0001g0228 a0001c0004t0001g0230 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0002g0263 a0001c0004t0002g0329 a0001c0004t0002g0347 a0001c0004t0002g0349	15	386	0.0389	17	c.-27 others(38): Show c.-270-19804_-270-19788dupAAAAAAAAAAAAAAAAA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88458141	G G	GTTTTTTT others(10): Show GTTTTTTTTTGTGTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0029 a0016c0016t0001g0029	1	386	0.0026	17	c.-27 others(36): Show c.-270-6938_-270-6937insGTGTTTTTTTTTTTTTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSRNP3_chr2_165464698_165694407	165653972	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0190 a0001c0002t0014g0238 a0001c0002t0014g0190 a0001c0002t0014g0238	2	246	0.0081	17	c.149 others(34): Show c.149-3769_149-3753dupAAAAAAAAAAAAAAAAA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165665775	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0059 a0001c0001t0007g0059	1	246	0.0041	17	c.408 others(34): Show c.408+7755_408+7756insGAGAGAGAGAGAGAGAG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6			chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165666985	A A	AAGGAAGG others(10): Show AAGGAAGGAAGGAAAGAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	246	0.0041	17	c.408 others(34): Show c.408+8967_408+8968insGAAGGAAGGAAAGAGAG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRP1_chr1_201478530_201512123	201484057	T T	TCCTTAAG others(10): Show TCCTTAAGACCTGGGTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0116 a0001c0001t0013g0116	1	432	0.0023	17	c.63 others(26): Show c.639_*655dupTAACCCAGGTCTTAAGG	CSRP1	ENSG00000159176.14	transcript	ENST00000340006.7	protein_coding	6/6	655		chr1	TogoVar
CSRP3_chr11_19177030_19206983	19197575	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	416	0.0024	17	c.-29 others(34): Show c.-29+4378_-29+4379insAGAAAGAAAGAAAGAAA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST6_chr11_66007008_66018505	66007272	A A	ACCACAAG others(10): Show ACCACAAGCCCTGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02976.hp2 HG03486.hp1 others(2): Show HG01109.hp2 HG02976.hp2 HG03486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0042	5	414	0.0121	17	c.-47 others(28): Show c.-4773_-4772insCCACAAGCCCTGCCCCC	CST6	ENSG00000175315.3	transcript	ENST00000312134.3	protein_coding		4735		chr11	TogoVar
CST8_chr20_23486117_23501010	23490094	T T	TAAATTAT others(10): Show TAAATTATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	17	c.-13 others(28): Show c.-1392_-1391insAAATTATATATATATAA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1022		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561117	T T	TTCTTTCT others(10): Show TTCTTTCTTTTCTTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	392	0.0026	17	c.38 others(28): Show c.3830_*3831insGAGAAAGAAAAGAAAGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3614		chr20	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01074.hp2 HG01169.hp2 others(19): Show HG00609.hp2 HG01074.hp2 HG01169.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02135.hp2 HG02165.hp2 HG02523.hp1 HG03017.hp2 NA18942.hp2 NA18944.hp2 NA18954.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA19002.hp1 NA19004.hp1 NA19076.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0063 a0001c0001t0080 others(1): Show a0001c0001t0004 a0001c0001t0063 a0001c0001t0080 a0001c0001t0081	a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0004 others(5): Show a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0016 a0001c0001t0063g0001 a0001c0001t0080g0001 a0001c0001t0081g0001	22	422	0.0521	17	c.10 others(28): Show c.1095_*1111dupTTTTTTTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar

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