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
CARD8_chr19_48203086_48260912	48214769	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0156 a0001c0013t0003g0156	1	362	0.0028	21	c.134 others(38): Show c.1348+550_1348+570dupAAAAAAAAAAAAAAAAAAAAA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	13/13			chr19	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18987.hp1 NA18953.hp2 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0044 a0001c0002t0002g0001 a0001c0002t0002g0044	2	470	0.0043	21	c.31 others(32): Show c.3166_*3186dupAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8856492	C C	CCTTACTG others(14): Show CCTTACTGATTCAAAATCCTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	470	0.0021	21	c.282 others(38): Show c.282-1187_282-1167dupAAAGGATTTTGAATCAGTAAG	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857261	C C	CTGTTTTT others(14): Show CTGTTTTTTGTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	470	0.0021	21	c.281 others(38): Show c.281+1088_281+1089insAAAAACAAAAAACAAAAAACA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0273 a0001c0013t0001g0273	1	470	0.0021	21	c.-7- others(36): Show c.-7-2675_-7-2655dupAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10871589	A A	AGCGGCGG others(14): Show AGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02080.hp1 HG04184.hp2 HG04204.hp1 HG02080.hp1 HG04184.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0059 a0001c0001t0033 a0001c0001t0059	a0001c0001t0033g0213 a0001c0001t0033g0310 a0001c0001t0059g0121 a0001c0001t0033g0213 a0001c0001t0033g0310 a0001c0001t0059g0121	3	354	0.0085	21	c.-84 others(28): Show c.-84_-64dupGGCGGCGGCGGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	63	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10871598	G G	GGCGGCGG others(14): Show GGCGGCGGCGGCGGCGGCGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0103 a0001c0001t0064g0103	1	354	0.0028	21	c.-85 others(28): Show c.-85_-84insTGCGGCGGCGGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	84	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10871604	G G	GGCGGCGG others(14): Show GGCGGCGGCGGCGGCGGCGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02735.hp2 HG03041.hp1 HG02630.hp1 HG02735.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0105 a0001c0001t0021g0107 a0001c0001t0021g0249 a0001c0001t0021g0105 a0001c0001t0021g0107 a0001c0001t0021g0249	3	354	0.0085	21	c.-79 others(28): Show c.-79_-78insTGCGGCGGCGGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	78	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp2 HG02145.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0012 a0001c0004t0018 a0001c0002t0012 a0001c0004t0018	a0001c0002t0012g0174 a0001c0004t0018g0093 a0001c0002t0012g0174 a0001c0004t0018g0093	2	186	0.0108	21	c.206 others(38): Show c.2067+872_2067+892dupAAAAAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASC3_chr17_40135537_40177171	40140349	C C	CACACACA others(14): Show CACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	266	0.0038	21	c.-20 others(30): Show c.-200_-199insACACACACACACACACACACA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		187		chr17	TogoVar
CASC3_chr17_40135537_40177171	40172967	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	266	0.0038	21	c.25 others(32): Show c.2562_*2563insTTTTTTTTTTTTTTTTTTTTT	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		797		chr17	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	366	0.0027	21	c.483 others(36): Show c.483+202_483+222dupTTTTTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP3_chr4_184622696_184654447	184650971	G G	GGTTTAAA others(14): Show GGTTTAAAGAGGTTAAGGCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0160 a0001c0001t0003g0128 a0001c0001t0001g0160 a0001c0001t0003g0128	2	366	0.0055	21	c.-17 others(32): Show c.-1780_-1760dupTCGGCCTTAACCTCTTTAAAC	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		1525		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687846	T T	TTTCCTTT others(14): Show TTTCCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	406	0.0025	21	c.-1+ others(36): Show c.-1+7870_-1+7871insCCTTTCTTTCTTTTCTTTCTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687846	T T	TTTCTTTC others(14): Show TTTCTTTCCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0370 a0002c0002t0001g0370	1	406	0.0025	21	c.-1+ others(36): Show c.-1+7870_-1+7871insCTTTCCTTTCTTTCTTTTCTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASQ2_chr1_115695021_115773714	115739124	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	364	0.0028	21	c.421 others(36): Show c.421-790_421-789insAAAAAAAAAAAAAAAAAAAAA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	3/10			chr1	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0100 a0002c0004t0001g0100	1	376	0.0027	21	c.460 others(38): Show c.460-2420_460-2419insAAAAAAAAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR1_chr22_30280117_30294505	30292203	T T	TCAGGCAG others(14): Show TCAGGCAGAATCTGTGTTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA19009.hp1 NA18942.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	424	0.0047	21	c.-27 others(32): Show c.-2727_-2707dupGTCCAACACAGATTCTGCCTG	CASTOR1	ENSG00000239282.8	transcript	ENST00000407689.8	protein_coding		2699		chr22	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(44): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG01175.hp1 HG01175.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp1 HG02165.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18942.hp1 NA18954.hp2 NA18960.hp2 NA18974.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp2 NA19065.hp1 NA19066.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0052 a0001c0001t0059 a0001c0001t0060 a0001c0001t0065 a0001c0001t0067 a0001c0001t0075 a0001c0001t0086 a0001c0001t0091	a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0083 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0220 a0001c0001t0002g0114 a0001c0001t0002g0131 a0001c0001t0002g0143 a0001c0001t0002g0164 a0001c0001t0005g0032 a0001c0001t0006g0034 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0182 a0001c0001t0007g0130 a0001c0001t0010g0116 a0001c0001t0010g0156 a0001c0001t0018g0124 a0001c0001t0019g0014 a0001c0001t0019g0017 a0001c0001t0025g0094 a0001c0001t0025g0095 a0001c0001t0026g0099 a0001c0001t0026g0135 a0001c0001t0030g0146 a0001c0001t0052g0037 a0001c0001t0059g0165 a0001c0001t0060g0069 a0001c0001t0065g0103 a0001c0001t0067g0172 a0001c0001t0075g0019 a0001c0001t0086g0016 a0001c0001t0091g0086	47	228	0.2061	21	c.-19 others(32): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026188	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03669.hp2 HG03491.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0087 a0001c0001t0080 a0001c0001t0087	a0001c0001t0080g0144 a0001c0001t0087g0027 a0001c0001t0080g0144 a0001c0001t0087g0027	2	228	0.0088	21	c.14 others(32): Show c.1489_*1490insTTTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1490		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026189	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG03540.hp2 NA20300.hp2 HG01243.hp2 HG03540.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0077 a0002c0004t0032 a0001c0001t0077 a0002c0004t0032	a0001c0001t0077g0117 a0002c0004t0032g0074 a0002c0004t0032g0121 a0001c0001t0077g0117 a0002c0004t0032g0074 a0002c0004t0032g0121	3	228	0.0132	21	c.15 others(32): Show c.1507_*1508insTTTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1508	INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	358	0.0028	21	c.138 others(38): Show c.138+4758_138+4778dupAAAAAAAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10715637	G G	GCACCCCA others(14): Show GCACCCCACAGCACCCAATCCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01978.hp1 others(43): Show HG00423.hp1 HG00597.hp1 HG01978.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG04115.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18999.hp1 NA18999.hp2 NA19009.hp2 NA19074.hp1 NA19074.hp2 NA19086.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0016 a0001c0026 a0002c0006 a0002c0029 a0002c0037 a0003c0010 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0047 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0024 a0001c0002t0029 a0001c0002t0049 a0001c0003t0002 a0001c0004t0001 a0001c0004t0022 a0001c0011t0004 a0001c0016t0023 a0001c0026t0007 a0002c0006t0014 a0002c0006t0015 a0002c0006t0038 a0002c0029t0059 a0002c0037t0061 a0003c0010t0021 a0003c0010t0036 a0004c0005t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 others(43): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0033 a0001c0001t0004g0129 a0001c0001t0004g0145 a0001c0001t0004g0178 a0001c0001t0006g0075 a0001c0001t0006g0214 a0001c0001t0047g0088 a0001c0001t0057g0073 a0001c0002t0001g0219 a0001c0002t0002g0201 a0001c0002t0024g0150 a0001c0002t0029g0007 a0001c0002t0049g0230 a0001c0003t0002g0046 a0001c0003t0002g0100 a0001c0003t0002g0182 a0001c0003t0002g0195 a0001c0004t0001g0134 a0001c0004t0022g0085 a0001c0011t0004g0210 a0001c0016t0023g0236 a0001c0026t0007g0071 a0002c0006t0014g0198 a0002c0006t0015g0153 a0002c0006t0015g0220 a0002c0006t0038g0117 a0002c0029t0059g0140 a0002c0037t0061g0174 a0003c0010t0021g0133 a0003c0010t0021g0231 a0003c0010t0036g0208 a0004c0005t0001g0209	46	236	0.1949	21	c.-76 others(40): Show c.-76-10094_-76-10093insTGGATTGGGTGCTGTGGGGTG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10715637	G G	GCGCCCCA others(14): Show GCGCCCCACAGCACCCAATCCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp2 NA19043.hp1 HG01891.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0060 a0001c0002t0012 a0001c0012t0001 a0001c0001t0060 a0001c0002t0012 a0001c0012t0001	a0001c0001t0060g0175 a0001c0002t0012g0170 a0001c0012t0001g0172 a0001c0001t0060g0175 a0001c0002t0012g0170 a0001c0012t0001g0172	3	236	0.0127	21	c.-76 others(40): Show c.-76-10094_-76-10093insTGGATTGGGTGCTGTGGGGCG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10789708	T T	TCTCTCTT others(14): Show TCTCTCTTCTTCCTTCTCCCTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0021 a0003c0010t0021	a0003c0010t0021g0231 a0003c0010t0021g0231	1	236	0.0042	21	c.-23 others(40): Show c.-234+6835_-234+6855dupCAGGGAGAAGGAAGAAGAGAG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18962.hp2 NA18995.hp1 HG02083.hp2 NA18962.hp2 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0176 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0176	3	392	0.0077	21	c.842 others(36): Show c.842+617_842+618insAAAAAAAAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER3_chr5_134962907_135016696	134997562	G G	GTCTCCAA others(14): Show GTCTCCAAATCCAGTGGCCAGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	380	0.0026	21	c.492 others(38): Show c.492+1053_492+1073dupTCCAAATCCAGTGGCCAGTTC	CATSPER3	ENSG00000152705.8	transcript	ENST00000282611.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01167.hp2 others(9): Show HG01074.hp2 HG01106.hp1 HG01167.hp2 HG01952.hp2 HG02071.hp2 HG02622.hp1 HG03225.hp1 HG03516.hp1 NA18977.hp1 NA18985.hp1 NA19007.hp2 NA19072.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0002c0014 others(2): Show a0001c0001 a0001c0003 a0002c0014 a0003c0004 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0002c0014t0001 a0003c0004t0001 a0008c0013t0001	a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0016 others(9): Show a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0003t0004g0072 a0002c0014t0001g0068 a0003c0004t0001g0054 a0003c0004t0001g0055 a0008c0013t0001g0180	12	398	0.0302	21	c.52 others(32): Show c.5235_*5236insAAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91587477	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	271	0.0037	21	c.305 others(38): Show c.3058-222_3058-202dupAAAAAAAAAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	25/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91661548	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp2 NA19076.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0248 a0001c0001t0001g0087 a0001c0001t0001g0248	2	271	0.0074	21	c.128 others(40): Show c.1288-1568_1288-1567insTATATATATATATATATATAT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91672022	A A	AAACAACA others(14): Show AAACAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02280.hp2 HG01891.hp1 HG02055.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259	3	271	0.0111	21	c.112 others(38): Show c.1128+824_1128+844dupGTTGTTGTTGTTGTTGTTGTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	13/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5741793	G G	GGGGGGGG others(14): Show GGGGGGGGGGGGTGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0019 a0020c0021t0001g0019	1	336	0.0030	21	c.573 others(38): Show c.573+2359_573+2360insGGGGGGTGGGGGGGGTGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741794	G G	GGGGTGGG others(14): Show GGGGTGGGGGGGGGTGGGGGGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp1 HG02965.hp2 NA19240.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0030 a0006c0007t0002g0031 a0006c0007t0002g0030 a0006c0007t0002g0031	2	336	0.0060	21	c.573 others(38): Show c.573+2358_573+2359insTGGGGGGGGGTGGGGGGTGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG03579.hp1 HG02818.hp2 HG02922.hp2 HG03579.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0013 a0001c0001 a0016c0013	a0001c0001t0001 a0016c0013t0001 a0001c0001t0001 a0016c0013t0001	a0001c0001t0001g0093 a0001c0001t0001g0099 a0016c0013t0001g0009 a0001c0001t0001g0093 a0001c0001t0001g0099 a0016c0013t0001g0009	3	336	0.0089	21	c.142 others(40): Show c.1428-1156_1428-1155insATATATATATATATATATTTT	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(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp2 HG06807.hp2 HG03041.hp2 HG03225.hp2 HG06807.hp2	a0001 a0011 a0015 a0001 a0011 a0015	a0001c0001 a0011c0008 a0015c0018 a0001c0001 a0011c0008 a0015c0018	a0001c0001t0001 a0011c0008t0001 a0015c0018t0001 a0001c0001t0001 a0011c0008t0001 a0015c0018t0001	a0001c0001t0001g0077 a0011c0008t0001g0010 a0015c0018t0001g0309 a0001c0001t0001g0077 a0011c0008t0001g0010 a0015c0018t0001g0309	3	336	0.0089	21	c.142 others(40): Show c.1428-1156_1428-1155insATATATATATATATATTTTTT	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(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 HG02630.hp1 HG03195.hp2	a0006 a0033 a0006 a0033	a0006c0007 a0033c0047 a0006c0007 a0033c0047	a0006c0007t0001 a0033c0047t0001 a0006c0007t0001 a0033c0047t0001	a0006c0007t0001g0025 a0033c0047t0001g0004 a0006c0007t0001g0025 a0033c0047t0001g0004	2	336	0.0060	21	c.142 others(40): Show c.1428-1156_1428-1155insATATATATATATATTTTTTTT	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(14): Show TATATATATAAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00735.hp2 others(36): Show HG00280.hp1 HG00621.hp1 HG00735.hp2 HG01109.hp1 HG01261.hp1 HG01433.hp2 HG01928.hp1 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02273.hp2 HG02523.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp2 HG03453.hp2 HG03540.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 NA18522.hp2 NA18747.hp1 NA18943.hp1 NA18966.hp1 NA18975.hp1 NA18982.hp2 NA19002.hp1 NA19003.hp1 NA19056.hp2 NA19062.hp2 NA19065.hp2 NA19081.hp1 NA19084.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0015 a0001c0019 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0006t0002 a0001c0015t0002 a0001c0019t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004	a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0110 others(36): Show a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0206 a0001c0001t0003g0156 a0001c0001t0003g0178 a0001c0001t0004g0151 a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0002t0001g0052 a0001c0006t0002g0084 a0001c0006t0002g0085 a0001c0015t0002g0136 a0001c0019t0004g0175 a0002c0004t0001g0041 a0002c0004t0002g0023 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0004t0004g0170 a0002c0004t0004g0174	39	206	0.1893	21	c.264 others(40): Show c.2648+3342_2648+3362dupAATATATATAAAATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	206	0.0049	21	c.264 others(40): Show c.2648+7747_2648+7748insATATTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03491.hp1 HG03195.hp2 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0148 a0001c0003t0001g0199 a0001c0002t0003g0148 a0001c0003t0001g0199	2	206	0.0097	21	c.264 others(40): Show c.2648+7747_2648+7748insATTTTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERZ_chr11_64295358_64309770	64306799	C C	CATCTGGA others(14): Show CATCTGGAGAAAACTGGGAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03225.hp1 HG02895.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0009 a0001c0001t0001g0045	2	392	0.0051	21	c.21 others(32): Show c.2153_*2154insATCTGGAGAAAACTGGGAAGT	CATSPERZ	ENSG00000219435.6	transcript	ENST00000328404.8	protein_coding		2030		chr11	TogoVar
CATSPERZ_chr11_64295358_64309770	64307306	C C	CTGCCCTT others(14): Show CTGCCCTTGCCCTGTCAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	392	0.0026	21	c.26 others(32): Show c.2660_*2661insTGCCCTTGCCCTGTCAGAGAG	CATSPERZ	ENSG00000219435.6	transcript	ENST00000328404.8	protein_coding		2537		chr11	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02148.hp1 HG02004.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0175 a0001c0001t0003g0113 a0001c0001t0003g0175	2	342	0.0059	21	c.195 others(38): Show c.195+7707_195+7708insATATATATATATTTTTTTTTT	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(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19059.hp2 HG02109.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0002g0227 a0001c0001t0001g0146 a0001c0001t0002g0227	2	342	0.0059	21	c.195 others(38): Show c.195+7707_195+7708insATATATATATTTTTTTTTTTT	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(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	342	0.0029	21	c.195 others(38): Show c.195+7707_195+7708insATATATATTTTTTTTTTTTTT	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(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	342	0.0029	21	c.195 others(38): Show c.195+7707_195+7708insATATATTTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116546697	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02148.hp1 NA18941.hp1 others(10): Show HG01943.hp2 HG02148.hp1 NA18941.hp1 NA18955.hp2 NA18967.hp1 NA18979.hp1 NA18990.hp2 NA18999.hp1 NA19011.hp2 NA19066.hp1 NA19067.hp1 NA19083.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0003t0003	a0001c0001t0003g0139 a0001c0001t0003g0172 a0001c0001t0003g0175 others(10): Show a0001c0001t0003g0139 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0185 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0294 a0001c0001t0006g0014 a0001c0001t0017g0281 a0001c0003t0003g0177	13	342	0.0380	21	c.196 others(40): Show c.196-12232_196-12231insAAAAAAAAAAAAAAAAAAAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116561738	T T	TAGATAGA others(14): Show TAGATAGATAGATAGATAGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	342	0.0029	21	c.24 others(32): Show c.2451_*2452insAGATAGATAGATAGATAGATA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		560		chr7	TogoVar
CAV1_chr7_116520036_116566179	116562865	A A	AAAAGAAA others(14): Show AAAAGAAAGAAAGAAAAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG03516.hp2 others(2): Show HG02258.hp2 HG03098.hp2 HG03516.hp2 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 others(2): Show a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0111 a0001c0001t0006g0112	5	342	0.0146	21	c.35 others(32): Show c.3578_*3579insAAAGAAAGAAAGAAAAGAGAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1687		chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18957.hp1 HG02280.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0236 a0001c0001t0001g0195 a0001c0001t0001g0236	2	298	0.0067	21	c.510 others(38): Show c.510+1687_510+1707dupTTTTTTTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88888488	C C	CGGGTGGG others(14): Show CGGGTGGGGTTGGGGAGGGGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0089 a0001c0002t0030g0089	1	284	0.0035	21	c.712 others(38): Show c.712-2367_712-2347dupCACCCCTCCCCAACCCCACCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar

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Search Results (Total: 10000 hits)