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	3384720	A A	AATATATA others(21): Show AATATATATTTATATAATTATATAAATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0006 a0001c0026t0006	a0001c0026t0006g0093 a0001c0026t0006g0093	1	126	0.0079	28	c.278 others(47): Show c.2782+2773_2782+2774insATATTTATATAATTATATAAATATAT AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411981	C C	CGTATATA others(21): Show CGTATATATGTATACGTGTATATACACGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0025 a0025	a0025c0096 a0025c0096	a0025c0096t0067 a0025c0096t0067	a0025c0096t0067g0116 a0025c0096t0067g0116	1	126	0.0079	28	c.156 others(47): Show c.1562-2377_1562-2376insACGTGTATATACACGTATACATATAT AC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439281	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0018 a0018	a0018c0044 a0018c0044	a0018c0044t0064 a0018c0044t0064	a0018c0044t0064g0085 a0018c0044t0064g0085	1	126	0.0079	28	c.156 others(49): Show c.1561+29430_1561+29431insTATATATATATATATATATATATA CACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02622.hp1 HG03195.hp2 HG02129.hp2 HG02622.hp1 HG03195.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0007 a0002c0030 a0013c0027 a0001c0007 a0002c0030 a0013c0027	a0001c0007t0032 a0002c0030t0016 a0013c0027t0003 a0001c0007t0032 a0002c0030t0016 a0013c0027t0003	a0001c0007t0032g0033 a0002c0030t0016g0122 a0013c0027t0003g0099 a0001c0007t0032g0033 a0002c0030t0016g0122 a0013c0027t0003g0099	3	126	0.0238	28	c.156 others(49): Show c.1561+29402_1561+29403insAAAATATATATATATATATATATA TATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520020	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0057 a0003c0057	a0003c0057t0080 a0003c0057t0080	a0003c0057t0080g0075 a0003c0057t0080g0075	1	126	0.0079	28	c.134 others(49): Show c.1345-26295_1345-26294insTATATATATATATATATATATATA TATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671564	T T	TATATATA others(21): Show TATATATATATATGATCATATATATGATC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0084 a0002c0084	a0002c0084t0018 a0002c0084t0018	a0002c0084t0018g0087 a0002c0084t0018g0087	1	126	0.0079	28	c.100 others(49): Show c.1009+36849_1009+36850insGATCATATATATGATCATATATAT ATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp1 NA18971.hp1 others(1): Show HG02922.hp2 HG03540.hp1 NA18971.hp1 NA19240.hp2	a0001 a0002 a0031 a0001 a0002 a0031	a0001c0045 a0002c0015 a0002c0077 others(1): Show a0001c0045 a0002c0015 a0002c0077 a0031c0069	a0001c0045t0012 a0002c0015t0021 a0002c0077t0001 others(1): Show a0001c0045t0012 a0002c0015t0021 a0002c0077t0001 a0031c0069t0043	a0001c0045t0012g0010 a0002c0015t0021g0008 a0002c0077t0001g0016 others(1): Show a0001c0045t0012g0010 a0002c0015t0021g0008 a0002c0077t0001g0016 a0031c0069t0043g0100	4	126	0.0318	28	c.932 others(45): Show c.932-1217_932-1190dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3776807	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0095 a0001c0004t0063g0095	1	126	0.0079	28	c.819 others(47): Show c.819-22766_819-22765insATATATATATATATATATATATATAT AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01934.hp1 others(10): Show HG01074.hp1 HG01243.hp2 HG01934.hp1 HG02257.hp2 HG02258.hp2 HG02615.hp1 HG02965.hp1 HG03017.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 NA18522.hp1 NA19030.hp1	a0001 a0002 a0022 others(6): Show a0001 a0002 a0022 a0026 a0027 a0030 a0032 a0035 a0036	a0001c0003 a0001c0006 a0001c0019 others(10): Show a0001c0003 a0001c0006 a0001c0019 a0001c0040 a0001c0115 a0002c0075 a0022c0013 a0026c0082 a0027c0023 a0030c0052 a0032c0011 a0035c0098 a0036c0100	a0001c0003t0019 a0001c0006t0060 a0001c0019t0078 others(10): Show a0001c0003t0019 a0001c0006t0060 a0001c0019t0078 a0001c0040t0019 a0001c0115t0042 a0002c0075t0026 a0022c0013t0007 a0026c0082t0052 a0027c0023t0001 a0030c0052t0049 a0032c0011t0065 a0035c0098t0025 a0036c0100t0017	a0001c0003t0019g0107 a0001c0006t0060g0103 a0001c0019t0078g0105 others(10): Show a0001c0003t0019g0107 a0001c0006t0060g0103 a0001c0019t0078g0105 a0001c0040t0019g0123 a0001c0115t0042g0055 a0002c0075t0026g0051 a0022c0013t0007g0112 a0026c0082t0052g0097 a0027c0023t0001g0052 a0030c0052t0049g0098 a0032c0011t0065g0101 a0035c0098t0025g0019 a0036c0100t0017g0121	13	126	0.1032	28	c.818 others(49): Show c.818+104563_818+104564insTATATATATATATATATATATATA TATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(21): Show TTATATATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0021 a0001c0061t0001g0021	1	126	0.0079	28	c.818 others(49): Show c.818+104563_818+104564insTATATATATATATATATATACATA TATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4077294	T T	TGTATATA others(21): Show TGTATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG01884.hp2 HG02451.hp2	a0002 a0029 a0002 a0029	a0002c0022 a0029c0028 a0002c0022 a0029c0028	a0002c0022t0036 a0029c0028t0024 a0002c0022t0036 a0029c0028t0024	a0002c0022t0036g0048 a0029c0028t0024g0040 a0002c0022t0036g0048 a0029c0028t0024g0040	2	126	0.0159	28	c.416 others(47): Show c.416-45196_416-45195insCCATATATATATATATATATATATAT AC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4135375	T T	TGGGAAAG others(21): Show TGGGAAAGAGGGGGAAGGAAGGGGAAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0028 a0028	a0028c0097 a0028c0097	a0028c0097t0018 a0028c0097t0018	a0028c0097t0018g0089 a0028c0097t0018g0089	1	126	0.0079	28	c.416 others(49): Show c.416-103277_416-103276insCCTTTCCCCTTCCTTCCCCCTCTT TCCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258377	A A	AGGAGGGA others(21): Show AGGAGGGAGGGGAGGATGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01255.hp2 others(2): Show HG00099.hp2 HG00735.hp2 HG01255.hp2 HG02486.hp1 HG03130.hp2	a0001 a0018 a0037 a0001 a0018 a0037	a0001c0005 a0001c0049 a0001c0073 others(2): Show a0001c0005 a0001c0049 a0001c0073 a0018c0044 a0037c0101	a0001c0005t0007 a0001c0049t0002 a0001c0073t0007 others(2): Show a0001c0005t0007 a0001c0049t0002 a0001c0073t0007 a0018c0044t0064 a0037c0101t0008	a0001c0005t0007g0070 a0001c0049t0002g0071 a0001c0073t0007g0108 others(2): Show a0001c0005t0007g0070 a0001c0049t0002g0071 a0001c0073t0007g0108 a0018c0044t0064g0085 a0037c0101t0008g0023	5	126	0.0397	28	c.415 others(49): Show c.415+161548_415+161575dupCTCCCTCCTTCCATCCTCCCCTCC CTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312421	G G	GCGCGTAT others(21): Show GCGCGTATATATATATGCGTATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG03540.hp1 HG02572.hp2 HG02615.hp1 HG03540.hp1	a0002 a0007 a0026 a0002 a0007 a0026	a0002c0015 a0007c0029 a0026c0082 a0002c0015 a0007c0029 a0026c0082	a0002c0015t0021 a0007c0029t0011 a0026c0082t0052 a0002c0015t0021 a0007c0029t0011 a0026c0082t0052	a0002c0015t0021g0008 a0007c0029t0011g0054 a0026c0082t0052g0097 a0002c0015t0021g0008 a0007c0029t0011g0054 a0026c0082t0052g0097	3	126	0.0238	28	c.415 others(49): Show c.415+107504_415+107531dupTATATATATACGCATATATATATA CGCG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312436	T T	TATGCGTA others(21): Show TATGCGTATATATATACGTATATATATGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0045 a0001c0111t0045	a0001c0111t0045g0063 a0001c0111t0045g0063	1	126	0.0079	28	c.415 others(49): Show c.415+107516_415+107517insGCATATATATACGTATATATATAC GCAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446751	G G	GTGTGTCT others(21): Show GTGTGTCTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0086 a0001c0004t0020g0086	1	126	0.0079	28	c.303 others(47): Show c.303-26687_303-26686insGACACACACACACACACACACAGACA CA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4578332	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0026 a0001c0045 a0001c0026 a0001c0045	a0001c0026t0006 a0001c0045t0012 a0001c0026t0006 a0001c0045t0012	a0001c0026t0006g0093 a0001c0045t0012g0010 a0001c0026t0006g0093 a0001c0045t0012g0010	2	126	0.0159	28	c.302 others(47): Show c.302+58982_302+59009dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4717310	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp2 HG02965.hp1 others(1): Show HG01081.hp2 HG02280.hp2 HG02965.hp1 HG03195.hp2	a0003 a0005 a0013 others(1): Show a0003 a0005 a0013 a0030	a0003c0034 a0005c0107 a0013c0027 others(1): Show a0003c0034 a0005c0107 a0013c0027 a0030c0052	a0003c0034t0030 a0005c0107t0068 a0013c0027t0003 others(1): Show a0003c0034t0030 a0005c0107t0068 a0013c0027t0003 a0030c0052t0049	a0003c0034t0030g0038 a0005c0107t0068g0073 a0013c0027t0003g0099 others(1): Show a0003c0034t0030g0038 a0005c0107t0068g0073 a0013c0027t0003g0099 a0030c0052t0049g0098	4	126	0.0318	28	c.86- others(45): Show c.86-79753_86-79752insATATATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764905	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0051 a0005c0064t0051	a0005c0064t0051g0078 a0005c0064t0051g0078	1	126	0.0079	28	c.86- others(47): Show c.86-127348_86-127347insGTTTTGTTTTTTTTTTTTTTTTTTTT TT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33567478	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG02809.hp1 HG03453.hp2	a0007 a0023 a0007 a0023	a0007c0024 a0023c0017 a0007c0024 a0023c0017	a0007c0024t0002 a0023c0017t0016 a0007c0024t0002 a0023c0017t0016	a0007c0024t0002g0057 a0023c0017t0016g0066 a0007c0024t0002g0057 a0023c0017t0016g0066	2	66	0.0303	28	c.838 others(45): Show c.8380+114_8380+115insATATATATATATATATATATATATATAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	53/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0003 a0019c0030t0003	a0019c0030t0003g0020 a0019c0030t0003g0020	1	66	0.0152	28	c.404 others(47): Show c.404+12048_404+12049insATATATATATATTTTTTTTTTTTTTT TT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112342970	A A	ATTATATA others(21): Show ATTATATATATATATTTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp2 NA19030.hp1 others(1): Show HG02922.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0002 a0001c0001t0004g0015 a0001c0001t0004g0018 others(1): Show a0001c0001t0004g0002 a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0007g0045	4	80	0.0500	28	c.644 others(47): Show c.6443-1285_6443-1284insATATATATATATAAATATATATATAT AA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	41/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405222	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	80	0.0125	28	c.580 others(47): Show c.5809+1301_5809+1302insGTATATATATATATATATATATATAT AT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112410585	C C	CATATGTA others(21): Show CATATGTATATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG02717.hp2 others(2): Show HG01074.hp1 HG01261.hp2 HG02717.hp2 NA18990.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0002c0003 a0001c0001 a0001c0016 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0001c0016t0001 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0016t0001 a0002c0003t0003	a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0007g0041 others(2): Show a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0007g0041 a0001c0016t0001g0073 a0002c0003t0003g0062	5	80	0.0625	28	c.539 others(47): Show c.5396-1581_5396-1554dupATATATATACACATATATATATACAT AT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112410624	A A	ATATGTGT others(21): Show ATATGTGTATATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 NA19063.hp2 HG02257.hp2 HG02280.hp1 NA19063.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0006c0008 a0001c0006 a0006c0008	a0001c0006t0003 a0006c0008t0005 a0001c0006t0003 a0006c0008t0005	a0001c0006t0003g0055 a0006c0008t0005g0004 a0006c0008t0005g0005 a0001c0006t0003g0055 a0006c0008t0005g0004 a0006c0008t0005g0005	3	80	0.0375	28	c.539 others(47): Show c.5396-1593_5396-1592insCATATATATACATATATATATACACA TA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153130	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0040 a0008c0014t0005g0040	1	80	0.0125	28	c.709 others(47): Show c.709+20564_709+20591dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542618	A A	ATATGTGT others(21): Show ATATGTGTATATATATATATACATGTATG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0370 a0001c0001t0002g0370	1	390	0.0026	28	c.230 others(45): Show c.230+7456_230+7457insCATACATGTATATATATATATACACATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542630	A A	ACATGTAT others(21): Show ACATGTATGTGTATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0352 a0001c0001t0053g0352	1	390	0.0026	28	c.230 others(45): Show c.230+7444_230+7445insCACATATATATATATATACACATACATG	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542654	A A	ATATATGT others(21): Show ATATATGTGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0369 a0001c0001t0002g0369	1	390	0.0026	28	c.230 others(45): Show c.230+7420_230+7421insCACATATATATATATATATACACATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01257.hp1 others(1): Show HG00735.hp2 HG01070.hp2 HG01257.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0221 others(1): Show a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0221 a0001c0001t0003g0228	4	390	0.0103	28	c.230 others(45): Show c.230+5310_230+5337dupTATATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544758	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	390	0.0026	28	c.230 others(45): Show c.230+5316_230+5317insGTGTATATATATATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1E_chr22_38285691_38322433	38290472	C C	CGCGTGGC others(21): Show CGCGTGGCACCTGTGGCGTGGCACCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG02922.hp1 others(4): Show HG00639.hp2 HG02809.hp1 HG02922.hp1 HG03130.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0033	a0001c0001t0002g0162 a0001c0001t0006g0035 a0001c0001t0006g0249 others(2): Show a0001c0001t0002g0162 a0001c0001t0006g0035 a0001c0001t0006g0249 a0001c0001t0011g0049 a0001c0001t0033g0025	7	412	0.0170	28	c.14 others(39): Show c.1498_*1499insCACAGGTGCCACGCCACAGGTGCCACGC	CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding		218		chr22	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0135 a0001c0001t0017g0135	1	176	0.0057	28	c.292 others(47): Show c.292+12993_292+12994insATATATATATATATTTTTTTTTTTTT TT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02735.hp2 HG01261.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0113 a0001c0001t0007g0110 a0001c0001t0007g0113	2	176	0.0114	28	c.292 others(47): Show c.292+12993_292+12994insATATATATATATATATATATATTTTT TT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0146 a0001c0001t0015g0150 a0001c0001t0003g0146 a0001c0001t0015g0150	2	176	0.0114	28	c.292 others(47): Show c.292+12993_292+12994insATATATATATATATATATATATATTT TT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64343208	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG01167.hp1 others(20): Show HG00099.hp1 HG00621.hp1 HG01167.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02257.hp2 HG02486.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03239.hp1 HG03490.hp1 HG03579.hp1 HG03834.hp2 HG04199.hp1 NA18941.hp1 NA18942.hp2 NA19003.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0022 a0001c0002t0001 a0001c0002t0027 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016	a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0061 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0004g0125 a0001c0001t0004g0131 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0017g0135 a0001c0001t0022g0168 a0001c0002t0001g0016 a0001c0002t0001g0023 a0001c0002t0001g0042 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0081 a0001c0002t0001g0096 a0001c0002t0027g0062 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0016g0090	23	176	0.1307	28	c.-22 others(49): Show c.-225+12752_-225+12779dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	316	0.0032	28	c.106 others(47): Show c.1061-1061_1061-1034dupATATATATATATATATATATATATAT AT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0253 a0001c0001t0001g0143 a0001c0001t0001g0253	2	400	0.0050	28	c.429 others(45): Show c.429+2492_429+2493insATATATATATATATATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03453.hp2 HG02129.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0281 a0001c0001t0001g0105 a0001c0001t0001g0281	2	400	0.0050	28	c.429 others(45): Show c.429+2471_429+2472insAATATATATATATATATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449870	T T	TAGAGAGA others(21): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	386	0.0026	28	c.-27 others(49): Show c.-270-15217_-270-15216insGAGAGAGAGAGAGAGAGAGAGAGA GAGA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88470698	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	386	0.0026	28	c.31 others(39): Show c.3136_*3137insTGTATATATATATATATATATATATATA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding		3105		chr3	TogoVar
CSPP1_chr8_67059392_67201614	67083548	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0031 a0002c0004t0003g0031	1	158	0.0063	28	c.200 others(45): Show c.200-2458_200-2457insAAAAAAAAAAAAAATATATATATATATA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159956	T T	TTTCTTTT others(21): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	158	0.0063	28	c.253 others(45): Show c.2538+819_2538+820insTTCTTTTCTTTTCTTTTCTTTTCTTTTC	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30			chr8	TogoVar
CSRNP2_chr12_51056205_51088596	51067168	A A	ACAGTATT others(21): Show ACAGTATTTAGGAAATACTGTTTAGGAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02698.hp2 homoSapiens_chm13v2.hp1 HG00140.hp2 HG02698.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	3	420	0.0071	28	c.708 others(43): Show c.708+477_708+504dupATTCCTAAACAGTATTTCCTAAATACTG	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	4/4			chr12	TogoVar
CSRNP3_chr2_165464698_165694407	165466966	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01074.hp2 others(4): Show HG00639.hp2 HG00738.hp1 HG01074.hp2 HG01346.hp1 HG01884.hp2 HG03490.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0002t0006 others(2): Show a0001c0001t0009 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0021	a0001c0001t0009g0072 a0001c0002t0001g0073 a0001c0002t0006g0070 others(4): Show a0001c0001t0009g0072 a0001c0002t0001g0073 a0001c0002t0006g0070 a0001c0002t0006g0077 a0001c0002t0012g0071 a0001c0002t0012g0079 a0001c0002t0021g0076	7	246	0.0285	28	c.-30 others(39): Show c.-3057_-3056insATATATATATATATATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding		2731		chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165666619	A A	AGAGGAAG others(21): Show AGAGGAAGAAGGAAAGAGAGAGAAAAAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0055 a0001c0002t0086g0055	1	246	0.0041	28	c.408 others(45): Show c.408+8599_408+8600insGAGGAAGAAGGAAAGAGAGAGAAAAAGG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6			chr2	TogoVar
CSRP3_chr11_19177030_19206983	19197501	C C	CTCTTTCG others(21): Show CTCTTTCGTTCTTTCCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp2 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	416	0.0048	28	c.-29 others(45): Show c.-29+4452_-29+4453insAAGAAAGAAAGAAGGAAAGAACGAAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197501	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA19005.hp1 NA19070.hp1 HG01517.hp1 NA19005.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0001t0001g0152	3	416	0.0072	28	c.-29 others(45): Show c.-29+4425_-29+4452dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST8_chr20_23486117_23501010	23490041	T T	TTTATATA others(21): Show TTTATATATATATAAAATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02080.hp2 HG02132.hp2 others(12): Show HG01109.hp2 HG02080.hp2 HG02132.hp2 HG02717.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 NA18946.hp1 NA18977.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp1 NA19088.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0022 a0002c0004t0001g0003	15	440	0.0341	28	c.-14 others(39): Show c.-1445_-1444insTTATATATATATAAAATATATATATAAA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1075		chr20	TogoVar
CST8_chr20_23486117_23501010	23490238	T T	TATATATA others(21): Show TATATATATAAATTATATATATATAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	440	0.0023	28	c.-12 others(39): Show c.-1248_-1247insATATATATAAATTATATATATATAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		878		chr20	TogoVar

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