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
C7orf50_chr7_992006_1143247	1135938	A A	AGTATATA others(21): Show AGTATATATAAATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0150 a0001c0001t0007g0150	1	326	0.0031	28	c.-2+ others(43): Show c.-2+1349_-2+1376dupATATATATTTATATATATTTATATATAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051795	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19009.hp2 NA18966.hp2 NA19009.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0031 a0002c0001t0002g0031	2	404	0.0050	28	c.606 others(43): Show c.606-902_606-901insTTTCTTTCTTTCTTTCTTTCCTTCCTTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTCCT others(21): Show TCCTTCCTTTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp2 HG01074.hp1 HG01358.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0256 a0002c0001t0005g0257 a0002c0001t0005g0256 a0002c0001t0005g0257	2	404	0.0050	28	c.606 others(43): Show c.606-891_606-890insCCTTCCTTTTCTCTTCTCTTCTCTTCTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051888	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02970.hp2 HG00639.hp1 HG02970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0054 a0002c0001t0002g0055	2	404	0.0050	28	c.606 others(43): Show c.606-794_606-793insCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C8A_chr1_56849797_56923223	56870681	T T	TAAATTAA others(21): Show TAAATTAAATTAAATTAAATTAAATTAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03490.hp1 HG03492.hp1 others(2): Show HG03139.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 NA18906.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0005 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0003c0003t0002 a0006c0006t0001	a0001c0001t0001g0218 a0001c0001t0005g0216 a0003c0003t0002g0040 others(1): Show a0001c0001t0001g0218 a0001c0001t0005g0216 a0003c0003t0002g0040 a0006c0006t0001g0215	5	366	0.0137	28	c.171 others(45): Show c.171+2979_171+2980insAAATTAAATTAAATTAAATTAAATTAAA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	2/10			chr1	TogoVar
C8A_chr1_56849797_56923223	56885315	A A	AATATATA others(21): Show AATATATATTTATATATATTTACATAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02717.hp1 others(6): Show HG01109.hp2 HG02109.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03209.hp2 NA19043.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0002 a0006c0006t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(6): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0077 a0001c0001t0003g0207 a0001c0001t0003g0208 a0003c0003t0002g0081 a0006c0006t0001g0082 a0006c0006t0001g0089	9	366	0.0246	28	c.856 others(43): Show c.856-606_856-605insATTTATATATATTTACATAAATATATAT	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8orf34_chr8_68325955_68824023	68466738	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	128	0.0078	28	c.608 others(45): Show c.608-1927_608-1926insTATATATATATATATATATATATATATA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68466765	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	128	0.0078	28	c.608 others(45): Show c.608-1927_608-1926insTATATATATATATATATATATATATATG	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	3/13			chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774327	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp2 HG03209.hp2 others(1): Show HG02622.hp1 HG02970.hp2 HG03209.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0013 a0001c0001 a0002c0003 a0002c0013	a0001c0001t0001 a0002c0003t0001 a0002c0013t0001 a0001c0001t0001 a0002c0003t0001 a0002c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0002c0003t0001g0036 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0002c0003t0001g0036 a0002c0013t0001g0095	4	128	0.0313	28	c.140 others(47): Show c.1405-2071_1405-2070insATATATATATATATATATATATATAT AT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774329	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0106 a0005c0010t0003g0106	1	128	0.0078	28	c.140 others(47): Show c.1405-2069_1405-2068insATATATATATATATATATATATATAT AT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774944	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0091 a0001c0002t0003g0091	1	128	0.0078	28	c.140 others(47): Show c.1405-1432_1405-1431insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf58_chr8_22594599_22609142	22599224	C C	CTCCCCTC others(21): Show CTCCCCTCCCTCTCCCCTCCCCACCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	332	0.0030	28	c.-49 others(37): Show c.-497_-496insTCCCCTCCCTCTCCCCTCCCCACCCTCT	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		374		chr8	TogoVar
C8orf88_chr8_90953471_90990238	90968657	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp1 HG01346.hp2 others(5): Show HG00621.hp1 HG01081.hp1 HG01346.hp2 HG01361.hp1 HG01978.hp1 HG02056.hp2 HG02647.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0001g0161 a0001c0001t0001g0178 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0002g0032 a0001c0001t0002g0082 a0001c0001t0002g0084	8	368	0.0217	28	c.223 others(45): Show c.223+2381_223+2408dupATATATATATATATATATATATATATAT	C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding	4/5			chr8	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	2	394	0.0051	28	c.77+ others(43): Show c.77+5285_77+5286insTATATATATATATATATATATATACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18906.hp1 HG01943.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0352 a0002c0002t0002g0353	2	394	0.0051	28	c.77+ others(43): Show c.77+5285_77+5286insTATATATATATATATATATATACACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG00741.hp1 others(7): Show HG00558.hp1 HG00673.hp1 HG00741.hp1 HG02080.hp1 HG02080.hp2 HG03831.hp2 NA18940.hp2 NA18952.hp1 NA19072.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0123 a0001c0001t0034g0132	10	466	0.0215	28	c.20 others(39): Show c.2054_*2055insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf153_chr9_86215265_86264657	86251914	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	384	0.0026	28	c.-27 others(45): Show c.-27+7608_-27+7635dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055374	C C	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03834.hp1 NA18966.hp2 HG02148.hp1 HG03834.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0083 a0001c0001t0001g0204 a0001c0001t0001g0221	3	450	0.0067	28	c.280 others(43): Show c.280+699_280+700insAGGAAGGAGGGAGGGAGGGAGGGAGGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
CA12_chr15_63316378_63386846	63376557	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02056.hp2 HG02257.hp2 others(9): Show HG00733.hp2 HG02056.hp2 HG02257.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp2 HG03041.hp1 HG03239.hp1 HG04184.hp2 NA18960.hp2 NA18962.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0025 a0001c0002t0008	a0001c0001t0001g0033 a0001c0001t0001g0149 a0001c0001t0002g0148 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0149 a0001c0001t0002g0148 a0001c0001t0004g0147 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0008g0069 a0001c0001t0011g0019 a0001c0001t0011g0068 a0001c0001t0018g0325 a0001c0001t0025g0261 a0001c0002t0008g0150	12	356	0.0337	28	c.86- others(41): Show c.86-907_86-880dupAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937767	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02451.hp2 HG02486.hp1 others(2): Show HG01261.hp2 HG02451.hp2 HG02486.hp1 HG02965.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0002c0005t0001g0014	5	400	0.0125	28	c.-13 others(39): Show c.-1318_-1317insGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1239		chr16	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0054 a0005c0005t0001g0054	1	452	0.0022	28	c.29 others(39): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA8_chr8_60180412_60286400	60190938	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0107 a0001c0002t0040g0107	1	344	0.0029	28	c.36 others(43): Show c.36-954_*36-953insTATATATATATATATATATATATATATA	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02723.hp2 others(4): Show HG02559.hp2 HG02717.hp2 HG02723.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0006 a0001c0002t0005 a0001c0003t0006	a0001c0002t0005g0101 a0001c0002t0005g0110 a0001c0002t0005g0163 others(3): Show a0001c0002t0005g0101 a0001c0002t0005g0110 a0001c0002t0005g0163 a0001c0003t0006g0002 a0001c0003t0006g0027 a0001c0003t0006g0031	7	344	0.0204	28	c.36 others(43): Show c.36-973_*36-972insGTGTGTGTATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00642.hp1 others(12): Show HG00099.hp1 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG02257.hp2 HG04199.hp2 NA18941.hp1 NA18951.hp1 NA18980.hp2 NA18986.hp1 NA18997.hp1 NA19004.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0005 a0001c0001t0002 a0001c0001t0006 a0001c0002t0005	a0001c0001t0002g0216 a0001c0001t0002g0259 a0001c0001t0002g0311 others(12): Show a0001c0001t0002g0216 a0001c0001t0002g0259 a0001c0001t0002g0311 a0001c0001t0006g0028 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0047 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0002t0005g0150 a0001c0002t0005g0151 a0001c0002t0005g0164 a0001c0002t0005g0168	15	344	0.0436	28	c.36 others(43): Show c.36-973_*36-972insGTGTGTATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG02523.hp2 others(2): Show HG00423.hp2 HG00741.hp2 HG02523.hp2 HG03225.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0013 a0001c0002t0039 others(1): Show a0001c0002t0011 a0001c0002t0013 a0001c0002t0039 a0001c0002t0046	a0001c0002t0011g0102 a0001c0002t0013g0108 a0001c0002t0013g0184 others(2): Show a0001c0002t0011g0102 a0001c0002t0013g0108 a0001c0002t0013g0184 a0001c0002t0039g0179 a0001c0002t0046g0201	5	344	0.0145	28	c.36 others(43): Show c.36-973_*36-972insGTGTATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0023 a0001c0003t0012g0023	1	344	0.0029	28	c.36 others(43): Show c.36-973_*36-972insGTATATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GAGATATA others(21): Show GAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02602.hp1 HG00735.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0124 a0001c0002t0003g0032 a0001c0002t0001g0124 a0001c0002t0003g0032	2	324	0.0062	28	c.565 others(45): Show c.565-1863_565-1862insATATATATATATATATATATATATATCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG02109.hp1 others(6): Show HG00408.hp1 HG00438.hp2 HG02109.hp1 HG03130.hp2 NA18942.hp2 NA18943.hp2 NA18974.hp1 NA18977.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0278 a0001c0002t0001g0114 a0001c0002t0001g0128 others(6): Show a0001c0001t0002g0278 a0001c0002t0001g0114 a0001c0002t0001g0128 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0228 a0001c0002t0001g0240 a0001c0002t0002g0004 a0001c0002t0002g0246	9	324	0.0278	28	c.565 others(45): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49376891	G G	GTAGATAG others(21): Show GTAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03710.hp1 HG03098.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0012 a0001c0001t0006g0277 a0001c0001t0003g0012 a0001c0001t0006g0277	2	324	0.0062	28	c.276 others(41): Show c.276+48_276+75dupTCTATCTATCTATCTATCTATCTATCTA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	5/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGAGAGG others(21): Show GAGAGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	324	0.0031	28	c.-31 others(47): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTTCCTCT CT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01099.hp2 HG01884.hp2 others(6): Show HG01071.hp1 HG01099.hp2 HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02615.hp1 NA19030.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0159 a0001c0001t0001g0200 a0001c0001t0001g0265 others(6): Show a0001c0001t0001g0159 a0001c0001t0001g0200 a0001c0001t0001g0265 a0001c0001t0001g0296 a0001c0001t0002g0052 a0001c0001t0002g0208 a0001c0001t0002g0278 a0001c0001t0003g0022 a0001c0001t0006g0132	9	324	0.0278	28	c.-31 others(47): Show c.-31-22806_-31-22779dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441219	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0275 a0001c0002t0002g0275	1	324	0.0031	28	c.-24 others(47): Show c.-246+2766_-246+2767insTATATATATATATATATATATATATA TA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230746385	C C	CCAGTTTA others(21): Show CCAGTTTAACACTGATAAAAACAGTCAAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0011 a0001c0001t0026g0011	1	342	0.0029	28	c.-43 others(47): Show c.-43-13572_-43-13545dupAGTTTAACACTGATAAAAACAGTCAA TC	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0033 a0002c0004t0033	a0002c0004t0033g0171 a0002c0004t0033g0171	1	342	0.0029	28	c.115 others(45): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	268	0.0037	28	c.346 others(41): Show c.346-54_346-27dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23188543	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	278	0.0036	28	c.846 others(43): Show c.846-272_846-271insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 NA18970.hp2 NA18977.hp2 others(1): Show HG01258.hp1 NA18970.hp2 NA18977.hp2 NA18995.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0011 a0001c0001t0012 a0003c0004t0011 others(1): Show a0001c0001t0011 a0001c0001t0012 a0003c0004t0011 a0003c0004t0069	a0001c0001t0011g0168 a0001c0001t0012g0091 a0003c0004t0011g0212 others(1): Show a0001c0001t0011g0168 a0001c0001t0012g0091 a0003c0004t0011g0212 a0003c0004t0069g0219	4	376	0.0106	28	c.20 others(39): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar
CABS1_chr4_70329981_70342116	70340742	C C	CTATTTAT others(21): Show CTATTTATTTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(273): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0012 a0005c0006 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0012t0001 a0005c0006t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0002g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0006 a0002c0003t0001g0001 a0002c0012t0001g0001 a0005c0006t0001g0002 a0007c0009t0001g0001 a0007c0009t0001g0007	276	446	0.6188	28	c.38 others(39): Show c.3896_*3897insTATTTATTTATTTATTTATTTATTTATT	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding		3627		chr4	TogoVar
CACHD1_chr1_64465129_64698053	64466218	A A	ATATATAC others(21): Show ATATATACACATGCACATGTATACACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 others(59): Show HG00099.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18962.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19070.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0012 a0002c0011t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 others(59): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0002g0015 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0003g0028 a0001c0001t0003g0089 a0001c0001t0003g0155 a0001c0001t0003g0162 a0001c0001t0004g0001 a0001c0001t0004g0108 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0007g0122 a0001c0001t0008g0010 a0001c0001t0010g0037 a0001c0001t0011g0029 a0001c0001t0013g0046 a0001c0001t0013g0114 a0001c0001t0014g0006 a0001c0001t0016g0014 a0001c0001t0017g0044 a0001c0001t0018g0101 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0042 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0002g0038 a0001c0002t0002g0153 a0001c0002t0005g0004 a0001c0002t0005g0007 a0001c0003t0001g0034 a0001c0003t0002g0139 a0001c0003t0003g0035 a0001c0003t0004g0146 a0001c0003t0004g0147 a0001c0004t0012g0115 a0001c0004t0012g0121 a0002c0011t0002g0036	62	166	0.3735	28	c.-45 others(39): Show c.-4527_-4526insTATATACACATGCACATGTATACACGTG	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3910		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp2 HG02258.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0002g0125 a0001c0001t0001g0160 a0001c0001t0002g0125	2	166	0.0121	28	c.199 others(45): Show c.199-7168_199-7167insATATATATATATATATATATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13202316	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATCTATCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0001 a0004c0047t0001	a0004c0047t0001g0178 a0004c0047t0001g0178	1	218	0.0046	28	c.49 others(39): Show c.4996_*4997insCACAGATAGATAGATAGATAGATAGATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4125		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13255737	T T	TTCCCTCC others(21): Show TTCCCTCCCTCCTTCCCTCCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02896.hp2 others(1): Show HG02572.hp2 HG02717.hp1 HG02896.hp2 HG03471.hp1	a0001 a0011 a0014 a0001 a0011 a0014	a0001c0001 a0011c0103 a0014c0111 a0001c0001 a0011c0103 a0014c0111	a0001c0001t0001 a0011c0103t0004 a0014c0111t0004 a0001c0001t0001 a0011c0103t0004 a0014c0111t0004	a0001c0001t0001g0025 a0001c0001t0001g0030 a0011c0103t0004g0200 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0011c0103t0004g0200 a0014c0111t0004g0210	4	218	0.0184	28	c.459 others(45): Show c.4591-479_4591-478insGAGAAGGAGGGAGGGAAGGAGGGAGGGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(21): Show GGAGAGAGAGGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01978.hp1 NA20752.hp1 HG01192.hp1 HG01978.hp1 NA20752.hp1	a0002 a0005 a0002 a0005	a0002c0019 a0002c0070 a0005c0022 a0002c0019 a0002c0070 a0005c0022	a0002c0019t0003 a0002c0070t0007 a0005c0022t0004 a0002c0019t0003 a0002c0070t0007 a0005c0022t0004	a0002c0019t0003g0009 a0002c0070t0007g0102 a0005c0022t0004g0092 a0002c0019t0003g0009 a0002c0070t0007g0102 a0005c0022t0004g0092	3	218	0.0138	28	c.979 others(43): Show c.979-686_979-685insTCTCTCTCTCTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(21): Show GGAGAGAGAGGGAGAGAGAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20129.hp1 HG01496.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0015 a0002c0010t0002 a0002c0002t0015 a0002c0010t0002	a0002c0002t0015g0160 a0002c0010t0002g0064 a0002c0002t0015g0160 a0002c0010t0002g0064	2	218	0.0092	28	c.979 others(43): Show c.979-686_979-685insTCTCTCTCCCTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(21): Show GGAGAGAGAGGGAGAGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0007 a0016c0028t0007	a0016c0028t0007g0073 a0016c0028t0007g0084 a0016c0028t0007g0073 a0016c0028t0007g0084	2	218	0.0092	28	c.979 others(43): Show c.979-686_979-685insTCCCTCTCCCTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0019 a0019	a0019c0079 a0019c0079	a0019c0079t0007 a0019c0079t0007	a0019c0079t0007g0067 a0019c0079t0007g0067	1	218	0.0046	28	c.785 others(43): Show c.785-467_785-466insTATATATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02615.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0037 a0001c0006 a0001c0037	a0001c0006t0008 a0001c0037t0004 a0001c0006t0008 a0001c0037t0004	a0001c0006t0008g0217 a0001c0037t0004g0021 a0001c0006t0008g0217 a0001c0037t0004g0021	2	218	0.0092	28	c.539 others(47): Show c.539+38953_539+38980dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13464543	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0038 a0007c0009t0038	a0007c0009t0038g0153 a0007c0009t0038g0153	1	218	0.0046	28	c.294 others(45): Show c.294-9332_294-9331insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(21): Show AAGGAAGGAAGAAAGGAAGGAAGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0021 a0021	a0021c0090 a0021c0090	a0021c0090t0007 a0021c0090t0007	a0021c0090t0007g0162 a0021c0090t0007g0162	1	218	0.0046	28	c.-38 others(39): Show c.-3812_-3811insCCCTTCCTTCCTTCCTTTCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0064 a0002c0010t0002g0064	1	218	0.0046	28	c.-38 others(39): Show c.-3812_-3811insCCCTTCCTTCCTTCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar

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