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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00673.hp1 others(7): Show HG00558.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01928.hp1 HG03471.hp1 HG03834.hp2 HG04228.hp1 NA18957.hp1 NA18972.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0023 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0022 a0001c0001t0002g0118 a0001c0001t0003g0096 others(7): Show a0001c0001t0001g0022 a0001c0001t0002g0118 a0001c0001t0003g0096 a0001c0001t0006g0242 a0001c0001t0010g0131 a0001c0001t0012g0100 a0001c0001t0013g0139 a0001c0001t0023g0106 a0002c0002t0001g0147 a0002c0002t0002g0246	10	292	0.0343	42	c.-27 others(61): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA TATATATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALHM2_chr10_103441786_103457370	103451642	C C	CAGGAGGA others(35): Show CAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	458	0.0022	42	c.-36 others(59): Show c.-361-358_-361-357insCCTCCTCCTGTTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCT	CALHM2	ENSG00000138172.11	transcript	ENST00000260743.10	protein_coding	1/3			chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18963.hp2 NA19068.hp2 HG04204.hp2 NA18963.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	452	0.0066	42	c.-38 others(53): Show c.-3847_-3846insTATATATATATATATATATATATATATATATATA TATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	452	0.0022	42	c.-38 others(53): Show c.-3847_-3846insTATATATATATATATATATATATATATATATATA TATGTATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	142	0.0070	42	c.244 others(59): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATATATATAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12401033	A A	AAATATAT others(35): Show AAATATATGTATTATATATATTATATATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02280.hp1 HG01256.hp1 HG01258.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0039 a0001c0001t0014 a0001c0001t0039	a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0039g0157 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0039g0157	3	214	0.0140	42	c.92+ others(59): Show c.92+51209_92+51250dupATATATGTATTATATATATTATATATAT ATTTTATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12568077	C C	CGCCCTCC others(35): Show CGCCCTCCCACCTTGCCTGCCCGCCCTCCCACCTTGCCTGCCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0164 a0001c0002t0011g0164	1	214	0.0047	42	c.224 others(61): Show c.224+14741_224+14742insCGCCCTCCCACCTTGCCTGCCTGCCC TCCCACCTTGCCTGCC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113709761	A A	ATACTATA others(35): Show ATACTATATATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02895.hp2 others(1): Show HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0127 a0001c0001t0014g0128 a0001c0001t0014g0129 others(1): Show a0001c0001t0014g0127 a0001c0001t0014g0128 a0001c0001t0014g0129 a0001c0001t0014g0130	4	278	0.0144	42	c.161 others(61): Show c.161-47990_161-47989insCTATATATATATATATATATATATAT ATATATATATATAGTA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(35): Show GTATATATATATAGTCTATAGACTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp1 HG02055.hp1 others(16): Show HG00621.hp1 HG01192.hp1 HG02055.hp1 HG02523.hp1 HG02602.hp2 HG03239.hp2 HG03831.hp2 HG03927.hp2 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18960.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp2 NA19004.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0049 others(16): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0002g0181 a0001c0001t0007g0070	19	198	0.0960	42	c.376 others(61): Show c.376+19938_376+19939insGTCTATAGACTATATATATATATATA TATATATATATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588300	G G	GTGGGGGT others(35): Show GTGGGGGTCAGCCCCCTGCCCGGCCAGCCACCCCGTTCGGGAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG02145.hp1 others(3): Show HG00738.hp1 HG00741.hp1 HG02145.hp1 HG02970.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0093 a0001c0001t0002g0017 a0001c0001t0002g0043 others(3): Show a0001c0001t0001g0093 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0092	6	198	0.0303	42	c.377 others(63): Show c.377-115983_377-115982insTGGGGGTCAGCCCCCTGCCCGGCC AGCCACCCCGTTCGGGAC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588300	G G	GTGGGGGT others(35): Show GTGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTTCGGGAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA21309.hp2 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0047 a0001c0001t0001g0106 a0001c0001t0002g0047	2	198	0.0101	42	c.377 others(63): Show c.377-115983_377-115982insTGGGGGTCAGCCCCCTGCCCGGCC AGCCGCCCCGTTCGGGAC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	58	0.0172	42	c.438 others(61): Show c.438+26678_438+26679insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01952.hp1 HG01943.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0066 a0001c0001t0003g0048 a0001c0001t0003g0066	2	380	0.0053	42	c.721 others(57): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN12_chr19_38725192_38749474	38736467	T T	TTTGACCA others(35): Show TTTGACCAAGCCCCAGGGCAGGTTGACCAAGCCCCAGGGCAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0177 a0001c0003t0002g0177	1	342	0.0029	42	c.137 others(57): Show c.1374+43_1374+84dupCCTGCCCTGGGGCTTGGTCAACCTGCCCTG GGGCTTGGTCAA	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20			chr19	TogoVar
CAPZA1_chr1_112614832_112676616	112638915	T T	TATAGATA others(35): Show TATAGATATAGATATAGATATAGATATAGGTATAGATATAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03579.hp1 HG01891.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0125 a0001c0001t0001g0150	2	368	0.0054	42	c.40- others(57): Show c.40-8273_40-8272insATATAGGTATAGATATAGAGATAGATATAG ATATAGATATAG	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	364	0.0028	42	c.330 others(59): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0190 a0001c0002t0003g0190	1	364	0.0028	42	c.330 others(59): Show c.330-8745_330-8744insTTATTTATATATATATATATATATATAT ATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARM1_chr19_10866553_10928075	10871571	T T	TGCGGCGG others(35): Show TGCGGCGGCGGTAGCGGCAGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0278 a0001c0001t0063g0278	1	354	0.0028	42	c.-12 others(50): Show c.-121_-80dupTAGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGG	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	79	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(35): Show GCATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 NA18943.hp1 others(1): Show HG02818.hp2 HG03209.hp1 NA18943.hp1 NA18945.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0008 a0002c0007 others(1): Show a0001c0001 a0001c0008 a0002c0007 a0010c0020	a0001c0001t0005 a0001c0008t0001 a0002c0007t0020 others(1): Show a0001c0001t0005 a0001c0008t0001 a0002c0007t0020 a0010c0020t0015	a0001c0001t0005g0095 a0001c0008t0001g0003 a0002c0007t0020g0181 others(1): Show a0001c0001t0005g0095 a0001c0008t0001g0003 a0002c0007t0020g0181 a0010c0020t0015g0160	4	186	0.0215	42	c.138 others(61): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450980	T T	TCCTCTCT others(35): Show TCCTCTCTTCTCTTCTCCTCTCCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00735.hp2 others(9): Show HG00438.hp1 HG00673.hp2 HG00735.hp2 HG01106.hp2 HG02165.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp2 NA18948.hp1 NA18956.hp1 NA18998.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0029 a0002c0028 a0003c0010 a0012c0026	a0001c0001t0003 a0001c0001t0005 a0001c0003t0002 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008 a0001c0006t0002 a0001c0029t0006 a0002c0028t0003 a0003c0010t0003 a0012c0026t0002	a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0005g0136 others(9): Show a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0005g0136 a0001c0003t0002g0082 a0001c0003t0002g0114 a0001c0003t0004g0022 a0001c0003t0008g0127 a0001c0006t0002g0110 a0001c0029t0006g0129 a0002c0028t0003g0038 a0003c0010t0003g0112 a0012c0026t0002g0070	12	186	0.0645	42	c.614 others(57): Show c.614+271_614+272insTCTCTTCTCTTCTCCTCTCCCCTCTCCCCT CTCCCCTCTCCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(35): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	372	0.0027	42	c.656 others(59): Show c.656-2471_656-2470insTTCTTTCTTTCTTTCTCTCTCTCTCTTT CTTTCTTTCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(35): Show AACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	266	0.0038	42	c.-23 others(51): Show c.-232_-231insACACACACACACACACACACACACACACACACACAC ACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75504108	A A	AGTGCACC others(35): Show AGTGCACCCCGTGGAGGTCACACCTTCCCCCCCGAGGCCCACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0011 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0005 others(26): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0015 a0001c0020 a0001c0030 a0001c0037 a0001c0043 a0002c0003 a0002c0004 a0002c0018 a0002c0024 a0003c0011 a0004c0014 a0006c0016 a0009c0042 a0010c0040 a0011c0019 a0014c0026 a0015c0025 a0016c0032 a0017c0023 a0018c0033 a0019c0034 a0020c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013 a0001c0005t0002 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0015t0001 a0001c0020t0001 a0001c0030t0001 a0001c0037t0001 a0001c0043t0001 a0002c0003t0001 a0002c0004t0001 a0002c0018t0001 a0002c0024t0001 a0003c0011t0001 a0004c0014t0001 a0006c0016t0001 a0009c0042t0007 a0010c0040t0001 a0011c0019t0001 a0014c0026t0001 a0015c0025t0001 a0016c0032t0001 a0017c0023t0001 a0018c0033t0001 a0019c0034t0001 a0020c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0050 a0001c0001t0002g0098 a0001c0001t0002g0115 a0001c0001t0003g0080 a0001c0001t0004g0103 a0001c0001t0008g0167 a0001c0001t0009g0169 a0001c0001t0014g0187 a0001c0002t0001g0006 a0001c0002t0001g0016 a0001c0002t0001g0021 a0001c0002t0001g0031 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0114 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0166 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0002g0005 a0001c0002t0002g0048 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0003g0043 a0001c0002t0003g0082 a0001c0002t0004g0104 a0001c0002t0004g0105 a0001c0002t0004g0106 a0001c0002t0004g0107 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0005g0014 a0001c0002t0005g0089 a0001c0002t0006g0116 a0001c0002t0012g0092 a0001c0002t0013g0186 a0001c0005t0002g0033 a0001c0005t0002g0100 a0001c0005t0002g0102 a0001c0005t0002g0181 a0001c0005t0005g0101 a0001c0006t0002g0182 a0001c0006t0002g0183 a0001c0006t0002g0184 a0001c0006t0002g0185 a0001c0007t0001g0022 a0001c0007t0001g0141 a0001c0008t0001g0020 a0001c0010t0001g0027 a0001c0015t0001g0037 a0001c0020t0001g0137 a0001c0030t0001g0143 a0001c0037t0001g0171 a0001c0043t0001g0179 a0002c0003t0001g0023 a0002c0003t0001g0131 a0002c0003t0001g0170 a0002c0004t0001g0010 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0152 a0002c0018t0001g0136 a0002c0024t0001g0140 a0003c0011t0001g0164 a0004c0014t0001g0036 a0006c0016t0001g0130 a0009c0042t0007g0078 a0010c0040t0001g0077 a0011c0019t0001g0168 a0014c0026t0001g0132 a0015c0025t0001g0120 a0016c0032t0001g0145 a0017c0023t0001g0154 a0018c0033t0001g0135 a0019c0034t0001g0119 a0020c0035t0001g0146	239	414	0.5773	42	c.146 others(58): Show c.1467+65_1467+106dupCGTGGGCCTCGGGGGGGAAGGTGTGACCT CCACGGGGTGCAC	CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	14/19			chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75504160	G G	GTGGAGGT others(35): Show GTGGAGGTCACACCTTTCCCCCCGAGGCCCACGGTGCACCCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	414	0.0024	42	c.146 others(57): Show c.1467+54_1467+55insTGGGGTGCACCGTGGGCCTCGGGGGGAAAG GTGTGACCTCCA	CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	14/19			chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75504182	C C	CGAGGCCC others(35): Show CGAGGCCCACGGTGCACCCCATGGAGGTCACACCTTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp1 others(19): Show HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG02486.hp2 HG02602.hp2 HG02683.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03942.hp1 HG04115.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0031 a0001c0038 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0001c0009t0002 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0009t0002 a0001c0031t0002 a0001c0038t0002 a0002c0003t0002	a0001c0001t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0099 others(5): Show a0001c0001t0002g0008 a0001c0002t0002g0015 a0001c0002t0002g0099 a0001c0002t0002g0180 a0001c0009t0002g0018 a0001c0031t0002g0096 a0001c0038t0002g0097 a0002c0003t0002g0095	22	414	0.0531	42	c.146 others(57): Show c.1467+32_1467+33insAGGGGGGAAGGTGTGACCTCCATGGGGTGC ACCGTGGGCCTC	CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	14/19			chr17	TogoVar
CASKIN2_chr17_75495261_75520537	75504182	C C	CGAGGCCC others(35): Show CGAGGCCCACGGTGCACCCCGTGGAGGTCACACCTTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0151 a0002c0003t0001g0151	1	414	0.0024	42	c.146 others(57): Show c.1467+32_1467+33insAGGGGGGAAGGTGTGACCTCCACGGGGTGC ACCGTGGGCCTC	CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	14/19			chr17	TogoVar
CASP5_chr11_104989243_105028168	105009758	T T	TATATATA others(35): Show TATATATATACACATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0004 a0003c0005 a0004c0004	a0003c0005t0001 a0004c0004t0001 a0003c0005t0001 a0004c0004t0001	a0003c0005t0001g0141 a0004c0004t0001g0140 a0003c0005t0001g0141 a0004c0004t0001g0140	2	396	0.0051	42	c.8-7 others(53): Show c.8-779_8-778insGTGTGTATATATATATATATATATATATATGTGT ATATATAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASQ1_chr1_160185575_160206886	160203235	A A	AGCCCATA others(35): Show AGCCCATAAATAATAAACATTATATATATATTTTTGAGATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0122 a0001c0001t0006g0122	1	440	0.0023	42	c.18 others(53): Show c.1859_*1860insGCCCATAAATAATAAACATTATATATATATTTTT GAGATGAT	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		1350		chr1	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(35): Show AGGAAGGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0230 a0002c0002t0027g0230	1	314	0.0032	42	c.-24 others(61): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0235 a0001c0012t0001g0235	1	314	0.0032	42	c.-24 others(61): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAAAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0220 a0005c0006t0006g0220	1	314	0.0032	42	c.-24 others(61): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(35): Show AGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	314	0.0032	42	c.-24 others(61): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAGGAAAAAGAA AGAAAGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(35): Show ACACACACACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0039 a0001c0003t0010g0039	1	228	0.0044	42	c.113 others(57): Show c.113+785_113+786insACACACACACACACACACACACACACACTC TCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(35): Show ACACACACACACACACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0042 a0001c0003t0001g0042	1	228	0.0044	42	c.113 others(57): Show c.113+785_113+786insACACACACACACACACACACACTCTCTCTC TCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACTCAC others(35): Show ACACTCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02809.hp1 NA20129.hp2 HG02683.hp2 HG02809.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0016 a0001c0001t0001 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0118 a0001c0001t0011g0120 a0001c0001t0016g0119 a0001c0001t0001g0118 a0001c0001t0011g0120 a0001c0001t0016g0119	3	228	0.0132	42	c.113 others(57): Show c.113+785_113+786insACTCACTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTGTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965885	C C	CACTCTCT others(35): Show CACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01261.hp1 HG03239.hp2 others(1): Show HG01169.hp1 HG01261.hp1 HG03239.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0030g0177	4	228	0.0175	42	c.113 others(57): Show c.113+787_113+788insACTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTGTCTG	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8			chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965905	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03017.hp1 HG01517.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0069 a0001c0001t0050 a0001c0001t0069	a0001c0001t0050g0187 a0001c0001t0069g0186 a0001c0001t0050g0187 a0001c0001t0069g0186	2	228	0.0088	42	c.113 others(57): Show c.113+815_113+816insTCTCTCTCTGTCTGTCTCTCTCTCTCTCTC TCTGTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0084 a0001c0001t0001g0086	2	336	0.0060	42	c.142 others(61): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATATTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0001 a0003c0037t0001	a0003c0037t0001g0203 a0003c0037t0001g0203	1	336	0.0030	42	c.142 others(61): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244621007	T T	TATATATA others(35): Show TATATATATAAAATATATATAAATATATATAAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03834.hp1 HG02818.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0010 a0001c0001t0001g0033 a0001c0001t0002g0010	2	206	0.0097	42	c.264 others(61): Show c.2648+3362_2648+3363insAATATATATAAAATATATATAAATAT ATATAAAATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	342	0.0029	42	c.195 others(59): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT ATTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	342	0.0029	42	c.195 others(59): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFB_chr16_67024149_67106058	67063452	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	212	0.0047	42	c.283 others(59): Show c.283-3223_283-3222insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67092698	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	212	0.0047	42	c.496 others(59): Show c.496-5980_496-5979insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBL_chr11_119201339_119313149	119206289	C C	CCGGTGGC others(35): Show CCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0224 a0001c0001t0025g0224	1	364	0.0028	42	c.-12 others(51): Show c.-129_-128insCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGG	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding		49		chr11	TogoVar
CBL_chr11_119201339_119313149	119244581	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	364	0.0028	42	c.443 others(61): Show c.443+11904_443+11905insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBS_chr21_43048191_43080835	43079816	G G	GAGGAGGA others(35): Show GAGGAGGAGGAAGAGGAAGGGAAGGAGGAGGAAGAGGAAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18993.hp1 NA18994.hp2 NA18952.hp2 NA18993.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0150 a0001c0001t0002g0013 a0001c0001t0002g0150	3	298	0.0101	42	c.-41 others(53): Show c.-4132_-4131insTCCCTTCCTCTTCCTCCTCCTTCCCTTCCTCTTC CTCCTCCT	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding		3982		chr21	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG02451.hp2 others(7): Show HG00099.hp2 HG01081.hp1 HG02451.hp2 HG02896.hp2 HG02897.hp1 HG03669.hp2 HG04184.hp1 NA18984.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016	a0001c0001t0001g0154 a0001c0001t0004g0137 a0001c0001t0006g0043 others(7): Show a0001c0001t0001g0154 a0001c0001t0004g0137 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0007g0228 a0001c0001t0008g0241 a0001c0001t0009g0127 a0001c0001t0012g0191 a0001c0001t0014g0090 a0001c0001t0016g0045	10	242	0.0413	42	c.213 others(61): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATATATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01070.hp1 others(9): Show HG00280.hp1 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01256.hp1 HG02148.hp1 HG02258.hp1 HG02735.hp2 HG03225.hp1 NA18747.hp2 NA18984.hp1 NA19088.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0004 a0003c0003 others(1): Show a0001c0001 a0001c0004 a0003c0003 a0009c0010	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0009c0010t0001	a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0331 others(7): Show a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0331 a0001c0004t0001g0015 a0001c0004t0001g0098 a0001c0004t0001g0099 a0003c0003t0001g0297 a0003c0003t0001g0326 a0003c0003t0001g0329 a0009c0010t0001g0020	12	440	0.0273	42	c.676 others(59): Show c.676-1729_676-1728insTATATATATATATATATATATATATATA TATATATATATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0009 a0002c0005t0001g0009	1	428	0.0023	42	c.21 others(53): Show c.2159_*2160insAAAAAAAAAAAAAATATATATATATATATATATA TATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar

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