Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CARD19_chr9_93091217_93118283	93113511	CCACACAC others(11): Show CCACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG00639.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	15	0.1333	-18	c.40 others(27): Show c.405_*422delCACACACACACACACACA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		229		chr9	TogoVar
CARD19_chr9_93091217_93118283	93113539	ACACACAC others(11): Show ACACACACACACACACACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03516.hp2 HG02717.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	355	0.0056	-18	c.43 others(27): Show c.433_*450delCACACACACACACACACC	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		257		chr9	TogoVar
CARD8_chr19_48203086_48260912	48220988	AGGAAGGA others(11): Show AGGAAGGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG03471.hp1 others(2): Show HG01884.hp1 HG01891.hp2 HG03471.hp1 NA19043.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0018 a0001c0005 a0004c0018	a0001c0005t0009 a0001c0005t0018 a0001c0005t0054 others(1): Show a0001c0005t0009 a0001c0005t0018 a0001c0005t0054 a0004c0018t0009	a0001c0005t0009g0234 a0001c0005t0009g0235 a0001c0005t0018g0298 others(2): Show a0001c0005t0009g0234 a0001c0005t0009g0235 a0001c0005t0018g0298 a0001c0005t0054g0299 a0004c0018t0009g0075	5	360	0.0139	-18	c.116 others(35): Show c.1161+724_1161+741delCTTTCTTTCTTTCCTTCC	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARF_chr2_202907275_202993263	202980616	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01099.hp2 others(11): Show HG00735.hp1 HG00738.hp2 HG01099.hp2 HG01167.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 NA18952.hp1 NA18966.hp2 NA18980.hp2 NA18999.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0007 others(1): Show a0001c0001 a0003c0003 a0003c0007 a0003c0013	a0001c0001t0004 a0003c0003t0014 a0003c0003t0036 others(6): Show a0001c0001t0004 a0003c0003t0014 a0003c0003t0036 a0003c0003t0037 a0003c0003t0094 a0003c0003t0095 a0003c0007t0037 a0003c0007t0097 a0003c0013t0098	a0001c0001t0004g0169 a0001c0001t0004g0265 a0003c0003t0014g0002 others(10): Show a0001c0001t0004g0169 a0001c0001t0004g0265 a0003c0003t0014g0002 a0003c0003t0014g0015 a0003c0003t0014g0016 a0003c0003t0014g0019 a0003c0003t0036g0001 a0003c0003t0037g0013 a0003c0003t0094g0020 a0003c0003t0095g0002 a0003c0007t0037g0014 a0003c0007t0097g0018 a0003c0013t0098g0012	14	27	0.5185	-18	c.155 others(35): Show c.1559-910_1559-893delTATATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986867	CGTATATA others(11): Show CGTATATATATATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03834.hp1 HG02896.hp1 HG02897.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0214 a0001c0001t0022g0298 a0001c0001t0022g0299 a0001c0001t0022g0214 a0001c0001t0022g0298 a0001c0001t0022g0299	3	211	0.0142	-18	c.32 others(29): Show c.3244_*3261delGTATATATATATATATAT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3244		chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8862000	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	468	0.0021	-18	c.-7- others(33): Show c.-7-2683_-7-2666delTAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10867641	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02970.hp2 HG02965.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0089 a0001c0005t0002g0090 a0001c0001t0002g0089 a0001c0005t0002g0090	2	154	0.0130	-18	c.-40 others(29): Show c.-4061_-4044delTTTTTTTTTTTTTTTTTT	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding		3911		chr19	TogoVar
CARM1_chr19_10866553_10928075	10871589	AGCGGCGG others(11): Show AGCGGCGGCGGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01168.hp1 others(1): Show HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0203 a0001c0001t0001g0292 a0001c0001t0001g0007 a0001c0001t0001g0203 a0001c0001t0001g0292	4	247	0.0162	-18	c.-81 others(25): Show c.-81_-64delGGCGGCGGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	64	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARM1_chr19_10866553_10928075	10871622	GGCGGCGG others(11): Show GGCGGCGGCGGCGGCGGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG02717.hp2 HG02895.hp2 others(6): Show HG00140.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1 NA18946.hp2 NA18985.hp2 NA19010.hp1 NA19079.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0065 a0001c0001t0002g0086 a0001c0001t0002g0087 others(6): Show a0001c0001t0002g0065 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0246 a0001c0001t0002g0341 a0002c0003t0001g0095	9	352	0.0256	-18	c.-69 others(25): Show c.-69_-52delGGCGGCAGCGGCGGCGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16	52	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25392053	CATGTGTG others(11): Show CATGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 HG00140.hp1 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0005 a0001c0012t0005 a0001c0002t0005 a0001c0012t0005	a0001c0002t0005g0136 a0001c0012t0005g0151 a0001c0002t0005g0136 a0001c0012t0005g0151	2	151	0.0132	-18	c.139 others(37): Show c.139-28060_139-28043delATGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25442455	AGTGTGTG others(11): Show AGTGTGTGTGTGTATGTGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG03225.hp2 HG02109.hp2 HG02630.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0003t0010 a0001c0001t0015 a0001c0003t0010	a0001c0001t0015g0177 a0001c0001t0015g0182 a0001c0003t0010g0135 a0001c0001t0015g0177 a0001c0001t0015g0182 a0001c0003t0010g0135	3	184	0.0163	-18	c.371 others(35): Show c.371+6875_371+6892delTGTGTGTATGTGTGTGTG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67427073	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(93): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG04184.hp2 NA18612.hp2 NA18940.hp1 NA18947.hp1 NA18984.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19043.hp1 NA19060.hp2 NA19065.hp1 NA19077.hp2 NA19082.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0010 a0016	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0019 a0002c0002 a0006c0025 a0008c0022 a0010c0016 a0016c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(32): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0003t0006 a0001c0003t0024 a0001c0003t0027 a0001c0004t0006 a0001c0004t0010 a0001c0004t0012 a0001c0004t0013 a0001c0004t0018 a0001c0004t0034 a0001c0004t0036 a0001c0004t0038 a0001c0005t0004 a0001c0008t0006 a0001c0008t0013 a0001c0008t0040 a0001c0008t0041 a0001c0019t0006 a0002c0002t0002 a0002c0002t0003 a0002c0002t0019 a0002c0002t0020 a0002c0002t0029 a0006c0025t0005 a0008c0022t0005 a0010c0016t0003 a0016c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0015 a0001c0001t0005g0073 a0001c0001t0007g0002 a0001c0001t0008g0014 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0014g0001 a0001c0001t0015g0001 a0001c0001t0015g0002 a0001c0001t0015g0080 a0001c0001t0023g0029 a0001c0001t0031g0002 a0001c0001t0032g0007 a0001c0003t0006g0003 a0001c0003t0024g0048 a0001c0003t0024g0079 a0001c0003t0027g0001 a0001c0004t0006g0009 a0001c0004t0006g0010 a0001c0004t0006g0043 a0001c0004t0010g0009 a0001c0004t0010g0010 a0001c0004t0010g0025 a0001c0004t0012g0010 a0001c0004t0012g0044 a0001c0004t0013g0009 a0001c0004t0018g0021 a0001c0004t0018g0025 a0001c0004t0034g0021 a0001c0004t0036g0010 a0001c0004t0038g0009 a0001c0005t0004g0020 a0001c0005t0004g0028 a0001c0008t0006g0018 a0001c0008t0006g0045 a0001c0008t0006g0047 a0001c0008t0013g0018 a0001c0008t0013g0027 a0001c0008t0040g0027 a0001c0008t0041g0018 a0001c0019t0006g0040 a0002c0002t0002g0053 a0002c0002t0003g0004 a0002c0002t0003g0005 a0002c0002t0003g0057 a0002c0002t0019g0004 a0002c0002t0019g0005 a0002c0002t0020g0004 a0002c0002t0029g0004 a0006c0025t0005g0015 a0008c0022t0005g0001 a0010c0016t0003g0005 a0016c0012t0002g0011	96	136	0.7059	-18	c.24 others(29): Show c.2473_*2490delTTTTTTTTTTTTTTTTTT	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding		1470		chr11	TogoVar
CARS2_chr13_110636417_110711116	110641979	ATCACCTG others(11): Show ATCACCTGAGGTCGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	370	0.0027	-18	c.162 others(35): Show c.1623+318_1623+335delACTCCCGACCTCAGGTGA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	14/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679585	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	216	0.0046	-18	c.656 others(35): Show c.656-2500_656-2483delCTCTCTTTCTTTCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASK_chrX_41509934_41928554	41510388	CATATATA others(11): Show CATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA19062.hp1 HG01433.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0155 a0001c0001t0021g0164 a0001c0001t0001g0155 a0001c0001t0021g0164	2	54	0.0370	-18	c.10 others(31): Show c.10014_*10031delATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding		4545		chrX	TogoVar
CASK_chrX_41509934_41928554	41517770	TAGCAGCA others(11): Show TAGCAGCAGCAGCAGCAGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0016 a0001c0001t0016g0016	1	106	0.0094	-18	c.26 others(29): Show c.2632_*2649delGCTGCTGCTGCTGCTGCT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	27/27	2632		chrX	TogoVar
CASK_chrX_41509934_41928554	41611610	CCTCTCCC others(11): Show CCTCTCCCTCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01074.hp1 others(4): Show HG00099.hp1 HG00642.hp1 HG01074.hp1 HG01109.hp1 HG02717.hp1 HG02738.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0161 others(4): Show a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0003g0052 a0001c0001t0006g0113	7	137	0.0511	-18	c.103 others(37): Show c.1034-1603_1034-1586delAGAGAGGGAGAGGGAGAG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	11/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03471.hp1 NA19088.hp1 HG01123.hp1 HG03471.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0019 a0001c0001t0001 a0001c0005t0019	a0001c0001t0001g0038 a0001c0001t0001g0090 a0001c0005t0019g0015 a0001c0001t0001g0038 a0001c0001t0001g0090 a0001c0005t0019g0015	3	30	0.1000	-18	c.172 others(37): Show c.172+23401_172+23418delATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41888793	ATATATGT others(11): Show ATATATGTATATATACATG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	162	0.0062	-18	c.59+ others(35): Show c.59+34119_59+34136delCATGTATATATACATATA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP5_chr11_104989243_105028168	105005352	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0200 a0005c0008t0001g0200	1	366	0.0027	-18	c.433 others(35): Show c.433+1713_433+1730delCACACACACACACATATA	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	3/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009753	ATATATAC others(11): Show ATATATACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0014	1	393	0.0025	-18	c.8-7 others(29): Show c.8-791_8-774delCGTGTGTGTGTGTATATA	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP6_chr4_109683628_109708445	109705993	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG02015.hp1 others(3): Show HG00280.hp2 HG01070.hp1 HG02015.hp1 NA18968.hp1 NA18971.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0003g0003 a0001c0001t0003g0008 others(1): Show a0001c0001t0001g0089 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0079	6	386	0.0155	-18	c.-26 others(29): Show c.-2616_-2599delATATATATATTTTTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2549		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705995	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02074.hp1 NA18982.hp2 others(1): Show HG00738.hp2 HG02074.hp1 NA18982.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0082 a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0002g0082 a0001c0001t0003g0003 a0001c0001t0003g0016	4	372	0.0108	-18	c.-26 others(29): Show c.-2618_-2601delATATATATATATTTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2551		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706129	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03139.hp1 HG01109.hp1 HG03139.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0035 a0003c0004t0001g0035	2	230	0.0087	-18	c.-27 others(29): Show c.-2752_-2735delTATATATATATATATAAA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CASP7_chr10_113674912_113735905	113725541	ATCTCTTT others(11): Show ATCTCTTTTCAATGCCAAT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0201 a0006c0009t0003g0201	1	404	0.0025	-18	c.552 others(30): Show c.552+5_552+22delTCTCTTTTCAATGCCAAT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	5/6			chr10	TogoVar
CASP8_chr2_201255536_201292709	201281213	CTGAGGCA others(11): Show CTGAGGCAGGAGAATTGCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0066 a0006c0007t0005g0066	1	384	0.0026	-18	c.803 others(35): Show c.803-3599_803-3582delGGCAGGAGAATTGCTTGA	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ2_chr1_115695021_115773714	115773214	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0025 a0002c0004t0011g0025	1	38	0.0263	-18	c.-46 others(29): Show c.-4691_-4674delCACACACACACACACACA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding		4501		chr1	TogoVar
CASTOR2_chr7_74959705_75036528	74960700	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	224	0.0045	-18	c.-42 others(29): Show c.-4285_-4268delTATATATATATATTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4004		chr7	TogoVar
CAST_chr5_96657376_96779683	96664382	TGTGCATA others(11): Show TGTGCATATATATGTGTAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0011 a0004c0008t0011	a0004c0008t0011g0235 a0004c0008t0011g0235	1	356	0.0028	-18	c.75+ others(33): Show c.75+1886_75+1903delGTGCATATATATGTGTAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31			chr5	TogoVar
CAST_chr5_96657376_96779683	96752550	ATAACCTC others(11): Show ATAACCTCAGGGATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0126 a0002c0004t0001g0126	1	71	0.0141	-18	c.152 others(37): Show c.1525-1508_1525-1491delAACCTCAGGGATTTTTTT	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATIP_chr2_218351857_218373094	218365464	CTGTTTTT others(11): Show CTGTTTTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG02717.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	364	0.0055	-18	c.755 others(33): Show c.755+723_755+740delTTTTGTTTTGTTTTTTTG	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER3_chr5_134962907_135016696	134972910	GCTTATAA others(11): Show GCTTATAAGAAGATAATCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18955.hp1 NA18975.hp1 others(6): Show HG00438.hp1 NA18955.hp1 NA18975.hp1 NA18983.hp2 NA19002.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239	9	378	0.0238	-18	c.252 others(35): Show c.252+2824_252+2841delAAGAAGATAATCACTTAT	CATSPER3	ENSG00000152705.8	transcript	ENST00000282611.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPERB_chr14_91575698_91737086	91707575	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02738.hp2 HG02809.hp2 others(3): Show HG01978.hp2 HG02738.hp2 HG02809.hp2 HG03927.hp1 NA18947.hp2 NA18979.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0196 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0196 a0001c0001t0001g0222 a0001c0001t0001g0249 a0003c0004t0001g0114	6	8	0.7500	-18	c.466 others(33): Show c.466+548_466+565delAAAAAAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	6/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0246 a0003c0004t0001g0246	1	74	0.0135	-18	c.-50 others(29): Show c.-5094_-5077delAAAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01517.hp1 others(6): Show HG00642.hp2 HG01070.hp1 HG01517.hp1 HG01884.hp2 HG02622.hp1 HG02717.hp1 HG03834.hp1 HG03942.hp2 NA18522.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 a0005c0006t0001	a0001c0001t0001g0103 a0001c0001t0001g0241 a0002c0002t0001g0234 others(6): Show a0001c0001t0001g0103 a0001c0001t0001g0241 a0002c0002t0001g0234 a0002c0002t0001g0243 a0004c0003t0001g0242 a0005c0006t0001g0213 a0005c0006t0001g0215 a0005c0006t0001g0223 a0005c0006t0001g0227	9	55	0.1636	-18	c.-44 others(29): Show c.-4478_-4461delATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0098 a0003c0004t0001g0098	1	12	0.0833	-18	c.988 others(33): Show c.988-422_988-405delAAAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG01884.hp1 others(7): Show HG00280.hp1 HG01261.hp2 HG01884.hp1 HG01928.hp1 HG02273.hp2 HG02630.hp2 HG02809.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0003t0004 a0001c0015t0002 a0001c0020t0004	a0001c0001t0001g0122 a0001c0001t0003g0156 a0001c0001t0003g0178 others(7): Show a0001c0001t0001g0122 a0001c0001t0003g0156 a0001c0001t0003g0178 a0001c0003t0002g0018 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0030 a0001c0003t0004g0172 a0001c0015t0002g0136 a0001c0020t0004g0149	10	19	0.5263	-18	c.103 others(37): Show c.1030-3102_1030-3085delTATATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344870	CACACACA others(11): Show CACACACACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01071.hp2 others(42): Show HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02683.hp2 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 NA18942.hp2 NA18947.hp1 NA18962.hp2 NA18969.hp1 NA18999.hp2 NA19004.hp1 NA19062.hp1 NA19066.hp1 NA19082.hp2 NA19085.hp2 NA20805.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0011 a0002c0003 a0006c0011	a0002c0003t0001 a0006c0011t0001 a0002c0003t0001 a0006c0011t0001	a0002c0003t0001g0013 a0002c0003t0001g0057 a0002c0003t0001g0068 others(41): Show a0002c0003t0001g0013 a0002c0003t0001g0057 a0002c0003t0001g0068 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0006c0011t0001g0097 a0006c0011t0001g0098	45	351	0.1282	-18	c.669 others(33): Show c.669+504_669+521delCACACACACACATATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116550150	GCTCAGGT others(11): Show GCTCAGGTCAGTGACTGCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	340	0.0029	-18	c.196 others(35): Show c.196-8795_196-8778delCTCAGGTCAGTGACTGCA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2			chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42401689	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG02280.hp1 HG03139.hp1 others(1): Show HG01256.hp2 HG02280.hp1 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0006 a0001c0001t0011 a0001c0003t0006	a0001c0001t0011g0204 a0001c0003t0006g0096 a0001c0003t0006g0103 others(1): Show a0001c0001t0011g0204 a0001c0003t0006g0096 a0001c0003t0006g0103 a0001c0003t0006g0104	4	336	0.0119	-18	c.29 others(29): Show c.2980_*2997delTTCTTTCTTTCTTTCTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding		759		chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42410892	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0028 a0001c0005t0028	a0001c0005t0028g0034 a0001c0005t0028g0034	1	2	0.5000	-18	c.472 others(35): Show c.472-5522_472-5505delTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42413565	GGAAAAAA others(11): Show GGAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01109.hp1 others(28): Show HG00140.hp2 HG00741.hp1 HG01109.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01943.hp2 HG01981.hp1 HG02109.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG04228.hp1 NA18906.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 a0001c0001 a0001c0003 a0003c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 a0001c0001t0027 a0001c0003t0006 a0003c0011t0006	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0006g0058 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0106 a0001c0001t0006g0192 a0001c0001t0024g0077 a0001c0001t0027g0089 a0001c0003t0006g0096 a0001c0003t0006g0102 a0001c0003t0006g0103 a0001c0003t0006g0104 a0001c0003t0006g0105 a0003c0011t0006g0090	31	325	0.0954	-18	c.472 others(35): Show c.472-8195_472-8178delTTTTTTTTTTTTTTTTTC	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33642108	TTTTTTTT others(11): Show TTTTTTTTTTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG03130.hp2 HG02109.hp2 HG02559.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0037 a0001c0001t0040 a0001c0001t0015 a0001c0001t0037 a0001c0001t0040	a0001c0001t0015g0014 a0001c0001t0037g0295 a0001c0001t0040g0296 a0001c0001t0015g0014 a0001c0001t0037g0295 a0001c0001t0040g0296	3	262	0.0115	-18	c.148 others(37): Show c.1488+1579_1488+1596delTTTTTTTTGTGTGTGTGT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642112	TTTTTTGT others(11): Show TTTTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	273	0.0037	-18	c.148 others(37): Show c.1488+1583_1488+1600delTTTTGTGTGTGTGTGTGT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG01346.hp2 others(2): Show HG00408.hp1 HG00738.hp1 HG01346.hp2 HG02300.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0084 a0001c0001t0003g0123 a0001c0001t0003g0142 others(2): Show a0001c0001t0003g0084 a0001c0001t0003g0123 a0001c0001t0003g0142 a0001c0002t0002g0167 a0001c0002t0002g0208	5	37	0.1351	-18	c.148 others(35): Show c.1489-547_1489-530delTATATATATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88882436	TGTGGCTG others(11): Show TGTGGCTGTGTGCGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01168.hp2 HG00597.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0155 a0001c0001t0001g0042 a0001c0001t0001g0155	2	281	0.0071	-18	c.120 others(35): Show c.1203+222_1203+239delGCCCACGCACACAGCCAC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	8/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88917853	AGTGGGTG others(11): Show AGTGGGTGCGGAGGAGAGC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01361.hp1 HG01975.hp1 others(4): Show HG01243.hp2 HG01361.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp2 NA18986.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0026 a0001c0001t0001 a0001c0001t0010 a0001c0001t0026	a0001c0001t0001g0030 a0001c0001t0001g0153 a0001c0001t0001g0207 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0153 a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0278 a0001c0001t0010g0170 a0001c0001t0026g0060	7	282	0.0248	-18	c.152 others(37): Show c.152-16215_152-16198delGCTCTCCTCCGCACCCAC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFB_chr16_67024149_67106058	67028921	GGGGGAAA others(11): Show GGGGGAAAAGGGCCCTGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp2 NA18975.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0141 a0001c0001t0001g0084 a0001c0001t0001g0141	2	209	0.0096	-18	c.-48 others(27): Show c.-486_-469delGGGGAAAAGGGCCCTGAT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding		227		chr16	TogoVar
CBFB_chr16_67024149_67106058	67075197	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	48	0.0208	-18	c.400 others(35): Show c.400-6996_400-6979delGTGTGTGTGTGTGTGTGT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLB_chr3_105650461_105874012	105665404	AATAAATA others(11): Show AATAAATAAATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp1 NA21309.hp2 HG02280.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0038 a0001c0001t0009 a0001c0001t0038	a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0038g0213 a0001c0001t0009g0211 a0001c0001t0009g0212 a0001c0001t0038g0213	3	353	0.0085	-18	c.268 others(37): Show c.2689+4811_2689+4828delATATATTTATTTATTTAT	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar

Search by Variant

Search

Search Results