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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(18): Show CTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18941.hp2 NA18944.hp1 others(1): Show NA18939.hp1 NA18941.hp2 NA18944.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0317 others(1): Show a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0317 a0001c0003t0002g0316	4	372	0.0108	25	c.105 others(44): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140349	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	266	0.0038	25	c.-20 others(34): Show c.-200_-199insACACACACACACACACACACACACA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		187		chr17	TogoVar
CASP7_chr10_113674912_113735905	113687836	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	406	0.0025	25	c.-1+ others(40): Show c.-1+7858_-1+7859insTTTCTTTCTTTCCTTTCTTTCTTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6			chr10	TogoVar
CASQ2_chr1_115695021_115773714	115761528	A A	AGAAGAAG others(18): Show AGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00642.hp2 others(14): Show HG00423.hp2 HG00609.hp1 HG00642.hp2 HG01175.hp2 HG02015.hp1 HG03017.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18946.hp1 NA18962.hp1 NA18970.hp2 NA18981.hp2 NA18986.hp2 NA19057.hp2 NA19064.hp1 NA19077.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0003c0005 a0002c0003 a0002c0004 a0003c0005	a0002c0003t0001 a0002c0003t0006 a0002c0004t0002 others(2): Show a0002c0003t0001 a0002c0003t0006 a0002c0004t0002 a0002c0004t0004 a0003c0005t0001	a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 others(14): Show a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0006g0359 a0002c0003t0006g0360 a0002c0004t0002g0327 a0002c0004t0004g0282 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0246	17	364	0.0467	25	c.234 others(42): Show c.234+6779_234+6780insCTTCTTCTTCTTCTTCTTCTTCTTC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122202393	C C	CAGAGGGA others(18): Show CAGAGGGAGACCGTGGAAAGAGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00733.hp1 others(26): Show HG00099.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01884.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03669.hp2 NA20805.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0004c0003t0004	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0167 others(25): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0167 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0021 a0001c0001t0005g0038 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0009g0028 a0001c0001t0018g0011 a0001c0001t0018g0015 a0004c0003t0004g0002	29	314	0.0924	25	c.-24 others(46): Show c.-243+18618_-243+18642dupGTGGAAAGAGAGGGAGAGGGAGAC C	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG03492.hp1 HG01074.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0034 a0001c0001t0011 a0001c0001t0034	a0001c0001t0011g0001 a0001c0001t0034g0157 a0001c0001t0011g0001 a0001c0001t0034g0157	2	228	0.0088	25	c.-19 others(36): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026188	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0196 a0001c0001t0042g0196	1	228	0.0044	25	c.14 others(36): Show c.1489_*1490insTTTTTTTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1490		chr7	TogoVar
CATIP_chr2_218351857_218373094	218357290	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19002.hp1 NA19001.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0050	2	366	0.0055	25	c.118 others(40): Show c.118+103_118+104insCTCTCTCTCTCTCTCTCTCTCTCTC	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9			chr2	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00733.hp1 others(8): Show HG00280.hp2 HG00323.hp1 HG00733.hp1 HG01361.hp1 HG02056.hp1 HG02293.hp2 NA18944.hp2 NA18965.hp1 NA18972.hp1 NA18986.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0004 a0002c0002t0002	a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0110 others(6): Show a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0110 a0001c0003t0002g0007 a0001c0003t0002g0018 a0001c0003t0002g0079 a0001c0003t0004g0018 a0002c0002t0002g0003 a0002c0002t0002g0039	11	398	0.0276	25	c.52 others(36): Show c.5235_*5236insAAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03239.hp1 HG04184.hp2 others(4): Show HG00735.hp1 HG03239.hp1 HG04184.hp2 NA18968.hp1 NA18968.hp2 NA18977.hp1 NA18999.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0040 a0002c0002 others(1): Show a0001c0001 a0001c0040 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0040t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0040t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0137 a0001c0001t0001g0220 a0001c0001t0001g0255 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0220 a0001c0001t0001g0255 a0001c0040t0001g0331 a0002c0002t0001g0085 a0002c0002t0001g0278 a0003c0004t0001g0196	7	336	0.0208	25	c.142 others(44): Show c.1428-1156_1428-1155insATATATATATATATATATTTTTTTT	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(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02027.hp2 HG02293.hp1 others(3): Show HG00642.hp1 HG02027.hp2 HG02293.hp1 HG02698.hp2 HG03688.hp2 NA19068.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0022	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0022c0025	a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 a0022c0025t0001	a0001c0001t0001g0170 a0002c0002t0001g0056 a0002c0002t0001g0097 others(3): Show a0001c0001t0001g0170 a0002c0002t0001g0056 a0002c0002t0001g0097 a0002c0002t0001g0201 a0004c0003t0001g0242 a0022c0025t0001g0146	6	336	0.0179	25	c.142 others(44): Show c.1428-1156_1428-1155insATATATATATATATATTTTTTTTTT	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(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01928.hp2 others(1): Show HG01070.hp1 HG01070.hp2 HG01928.hp2 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0004c0003t0001	a0001c0001t0001g0135 a0002c0002t0001g0289 a0002c0002t0003g0081 others(1): Show a0001c0001t0001g0135 a0002c0002t0001g0289 a0002c0002t0003g0081 a0004c0003t0001g0202	4	336	0.0119	25	c.142 others(44): Show c.1428-1156_1428-1155insATATATATATATATTTTTTTTTTTT	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(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp2 HG01952.hp1 others(1): Show HG01261.hp2 HG01358.hp2 HG01952.hp1 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0103 a0002c0002t0001g0286 a0002c0002t0001g0305 others(1): Show a0002c0002t0001g0103 a0002c0002t0001g0286 a0002c0002t0001g0305 a0002c0002t0003g0138	4	336	0.0119	25	c.142 others(44): Show c.1428-1156_1428-1155insATATATATATATTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0072 a0002c0002t0003g0072	1	336	0.0030	25	c.150 others(42): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244489450	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	206	0.0049	25	c.327 others(40): Show c.327-990_327-966dupTTTTTTTTTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	206	0.0049	25	c.264 others(44): Show c.2648+7747_2648+7748insATATATATATATTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0197 a0001c0003t0001g0197	1	206	0.0049	25	c.264 others(44): Show c.2648+7747_2648+7748insATATATATATTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0008 a0002c0004t0002g0008	1	206	0.0049	25	c.264 others(44): Show c.2648+7747_2648+7748insATATATTTTTTTTTTTTTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344661	C C	CCATACCT others(18): Show CCATACCTGTACATACATATATAGTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp2 HG03098.hp2 others(1): Show HG01106.hp2 HG02486.hp2 HG03098.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0007t0001g0006 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0007t0001g0006	4	376	0.0106	25	c.669 others(40): Show c.669+441_669+465dupGTACATACCTGTACATACATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	342	0.0029	25	c.195 others(42): Show c.195+7707_195+7708insATATATATATATATATTTTTTTTTT	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(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03704.hp2 NA18947.hp1 HG02976.hp2 HG03704.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0250 a0001c0001t0002g0304 a0001c0001t0001g0077 a0001c0001t0002g0250 a0001c0001t0002g0304	3	342	0.0088	25	c.195 others(42): Show c.195+7707_195+7708insATATATATATATATTTTTTTTTTTT	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(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	342	0.0029	25	c.195 others(42): Show c.195+7707_195+7708insATATATATATATTTTTTTTTTTTTT	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(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	342	0.0029	25	c.195 others(42): Show c.195+7707_195+7708insATATATATATTTTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	25	c.-85 others(34): Show c.-859_-858insCACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0065 a0001c0001t0006g0065	1	338	0.0030	25	c.472 others(42): Show c.472-5805_472-5804insTTTTTTTTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33544945	C C	CAGAATAG others(18): Show CAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02922.hp1 HG01261.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0002 a0001c0001t0008g0006 a0001c0001t0008g0002 a0001c0001t0008g0006	2	298	0.0067	25	c.34+ others(42): Show c.34+54689_34+54713dupTAGAATAGAATAGAATAGAATAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544985	T T	TAGAACAG others(18): Show TAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA21309.hp1 HG01361.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0036 a0001c0001t0004 a0001c0001t0036	a0001c0001t0004g0024 a0001c0001t0036g0018 a0001c0001t0004g0024 a0001c0001t0036g0018	2	298	0.0067	25	c.34+ others(42): Show c.34+54688_34+54689insCAGAACAGAACAGAACAGAACAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33544990	T T	TAGAACAG others(18): Show TAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03195.hp1 others(1): Show HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0011g0063 others(1): Show a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0011g0063 a0001c0001t0011g0064	4	298	0.0134	25	c.34+ others(42): Show c.34+54693_34+54694insCAGAACAGAACAGAACAGAACAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545010	T T	TAGAACAG others(18): Show TAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18960.hp2 NA19012.hp2 NA18944.hp2 NA18960.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0004g0041 a0001c0001t0004g0048 a0001c0001t0004g0056	3	298	0.0101	25	c.34+ others(42): Show c.34+54723_34+54724insCAGAACAGAACAGAACAGAACAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33592382	A A	ATATATAT others(18): Show ATATATATATATAATTATGTAAAAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02895.hp2 HG02922.hp1 others(3): Show HG01261.hp2 HG02895.hp2 HG02922.hp1 HG03516.hp1 NA18612.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014	a0001c0001t0003g0087 a0001c0001t0005g0079 a0001c0001t0008g0002 others(3): Show a0001c0001t0003g0087 a0001c0001t0005g0079 a0001c0001t0008g0002 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0014g0032	6	298	0.0201	25	c.35- others(42): Show c.35-14564_35-14563insTAATTATGTAAAAATTATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03688.hp2 NA18612.hp1 others(1): Show HG00621.hp2 HG03688.hp2 NA18612.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0021 a0001c0003t0001 a0001c0001t0001 a0001c0001t0021 a0001c0003t0001	a0001c0001t0001g0159 a0001c0001t0001g0274 a0001c0001t0021g0278 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0274 a0001c0001t0021g0278 a0001c0003t0001g0297	4	298	0.0134	25	c.510 others(42): Show c.510+1683_510+1707dupTTTTTTTTTTTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88885522	A A	AGAGCCGG others(18): Show AGAGCCGGACTCGCTGCTCTGGGAAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	284	0.0035	25	c.894 others(40): Show c.894-278_894-254dupGTTCCCAGAGCAGCGAGTCCGGCTC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	6/11			chr16	TogoVar
CBL_chr11_119201339_119313149	119264388	T T	TTTCTCTT others(18): Show TTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02015.hp2 others(4): Show HG00735.hp1 HG01891.hp1 HG02015.hp2 NA18939.hp2 NA18953.hp2 NA19065.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0045 others(2): Show a0001c0001t0001 a0001c0001t0042 a0001c0001t0045 a0001c0001t0054 a0001c0001t0060	a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0095 others(4): Show a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0042g0108 a0001c0001t0045g0091 a0001c0001t0054g0009 a0001c0001t0060g0097	7	364	0.0192	25	c.444 others(42): Show c.444-7317_444-7293dupCTTCTCTTCTCTTCTCTTCTCTTCT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119264404	T T	TTCTCTTC others(18): Show TTCTCTTCTCTTCTCTTCTCTTCTCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp1 HG02818.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0058 a0001c0001t0002 a0001c0001t0058	a0001c0001t0002g0023 a0001c0001t0058g0015 a0001c0001t0002g0023 a0001c0001t0058g0015	2	364	0.0055	25	c.444 others(42): Show c.444-7307_444-7306insGTCTCTTCTCTTCTCTTCTCTTCTC	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119283625	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0126 a0001c0001t0007g0126	1	364	0.0028	25	c.143 others(44): Show c.1432-1338_1432-1314dupTTTTTTTTTTTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36142431	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0280 a0003c0003t0001g0280	1	424	0.0024	25	c.398 others(42): Show c.398-3628_398-3627insAAAAAAAAAAAAAAAAAAAAAAAAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBX4_chr17_79828156_79844440	79831179	T T	TCTAGGGG others(18): Show TCTAGGGGCAGAGGGGGTCTCGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	420	0.0024	25	c.27 others(36): Show c.2779_*2780insTGTCCGAGACCCCCTCTGCCCCTAG	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding		1976		chr17	TogoVar
CBX4_chr17_79828156_79844440	79831206	T T	TCTAGGGG others(18): Show TCTAGGGGCAGAGGGGGTCTCGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	420	0.0024	25	c.27 others(36): Show c.2752_*2753insTGTCCGAGACCCCCTCTGCCCCTAG	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding		1949		chr17	TogoVar
CCAR2_chr8_22599757_22625471	22602517	A A	ACCCCCCC others(18): Show ACCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	376	0.0027	25	c.-23 others(36): Show c.-2364_-2363insCCCCCCCCCCCCCCCCCCCCCCCCC	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding		2239		chr8	TogoVar
CCBE1_chr18_59425939_59702423	59444134	T T	TTATCCAT others(18): Show TTATCCATTGATGGACACCTGGGTTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01081.hp1 others(36): Show HG00733.hp2 HG00738.hp2 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(14): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0008t0010	a0001c0001t0003g0040 a0001c0001t0004g0095 a0001c0001t0004g0104 others(36): Show a0001c0001t0003g0040 a0001c0001t0004g0095 a0001c0001t0004g0104 a0001c0001t0004g0119 a0001c0001t0004g0121 a0001c0001t0004g0134 a0001c0001t0006g0033 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0136 a0001c0001t0006g0172 a0001c0001t0006g0231 a0001c0001t0009g0127 a0001c0001t0009g0141 a0001c0001t0009g0150 a0001c0001t0009g0153 a0001c0001t0009g0164 a0001c0001t0009g0177 a0001c0001t0010g0004 a0001c0001t0010g0010 a0001c0001t0010g0143 a0001c0001t0010g0170 a0001c0001t0011g0087 a0001c0001t0011g0171 a0001c0001t0011g0229 a0001c0001t0013g0041 a0001c0001t0016g0045 a0001c0001t0016g0142 a0001c0001t0026g0148 a0001c0001t0027g0151 a0001c0001t0029g0182 a0001c0001t0032g0053 a0001c0001t0035g0235 a0001c0001t0036g0155 a0001c0001t0038g0168 a0001c0001t0039g0160 a0001c0008t0010g0009	39	242	0.1612	25	c.775 others(42): Show c.775+3824_775+3848dupTAACCCAGGTGTCCATCAATGGATA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	7/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59444134	T T	TTATCCAT others(18): Show TTATCCATTGATGGACACCTGGTTTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02895.hp1 others(3): Show HG02615.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0059 a0001c0001t0004 a0001c0001t0023 a0001c0001t0059	a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0137 others(3): Show a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0137 a0001c0001t0023g0192 a0001c0001t0023g0193 a0001c0001t0059g0035	6	242	0.0248	25	c.775 others(42): Show c.775+3848_775+3849insTAAACCAGGTGTCCATCAATGGATA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	7/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59508711	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	242	0.0041	25	c.213 others(44): Show c.213-28474_213-28473insAAAAAAAAAAAAAAAAAAAAAAAAA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59522993	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0165 a0001c0001t0022g0166 a0001c0001t0022g0165 a0001c0001t0022g0166	2	242	0.0083	25	c.213 others(44): Show c.213-42756_213-42755insTTTTTTTTTTTTTTTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102A_chr16_57507181_57541571	57520536	A A	AATAACAT others(18): Show AATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02683.hp1 HG02717.hp2 others(2): Show HG02132.hp1 HG02683.hp1 HG02717.hp2 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017	a0001c0001t0003g0312 a0001c0001t0005g0161 a0001c0001t0007g0280 others(2): Show a0001c0001t0003g0312 a0001c0001t0005g0161 a0001c0001t0007g0280 a0001c0001t0008g0286 a0001c0001t0017g0189	5	416	0.0120	25	c.921 others(40): Show c.921+507_921+531dupGTTATGTTATGTTATGTTATGTTAT	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	4/8			chr16	TogoVar
CCDC102B_chr18_68793080_69060189	68853672	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0049 a0001c0007t0001g0049	1	216	0.0046	25	c.936 others(42): Show c.936+7257_936+7281dupAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18988.hp1 NA19007.hp2 others(2): Show HG01109.hp1 NA18988.hp1 NA19007.hp2 NA19054.hp2 NA19083.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0028 a0002c0005t0001g0040 a0002c0005t0001g0041 others(2): Show a0002c0005t0001g0028 a0002c0005t0001g0040 a0002c0005t0001g0041 a0002c0005t0001g0053 a0002c0005t0001g0191	5	216	0.0232	25	c.126 others(43): Show c.1264-1009_1264-985dupTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC103_chr17_44894729_44910390	44908334	C C	CCCAAGTC others(18): Show CCCAAGTCCTGGCTGCTCTGTCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(92): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp2 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG03927.hp1 NA18940.hp1 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18955.hp2 NA18960.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19043.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021	a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0005g0002 others(8): Show a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0005g0002 a0001c0001t0005g0006 a0001c0001t0005g0013 a0001c0001t0005g0024 a0001c0001t0009g0002 a0001c0001t0018g0020 a0001c0001t0019g0023 a0001c0001t0020g0002 a0001c0001t0021g0002	95	426	0.2230	25	c.55 others(36): Show c.5517_*5518insCCAAGTCCTGGCTGCTCTGTCCAGT	CCDC103	ENSG00000167131.17	transcript	ENST00000417826.3	protein_coding		2945		chr17	TogoVar
CCDC105_chr19_15005726_15028276	15010225	G G	GAGAAAAG others(18): Show GAGAAAAGAAAAGAAAAGAAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	440	0.0023	25	c.-60 others(34): Show c.-601_-600insAGAAAAGAAAAGAAAAGAAAAGAAA	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding		500		chr19	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0364 a0005c0010t0001g0364	1	428	0.0023	25	c.21 others(36): Show c.2159_*2160insATATATATATATATATATATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02976.hp2 HG01975.hp1 HG02976.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0029 a0002c0004t0001g0029	2	428	0.0047	25	c.21 others(36): Show c.2159_*2160insAAATATATATATATATATATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)