Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0211	1	296	0.0034	27	c.-18 others(38): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG02976.hp2 others(1): Show HG02109.hp1 HG02965.hp2 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	4	464	0.0086	27	c.42 others(38): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASS1_chr9_130439961_130506274	130465056	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0148 a0004c0006t0001g0148	1	374	0.0027	27	c.420 others(42): Show c.420+890_420+891insATATATATATATTTTTTTTTTTTTTTT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTL_chr2_96117818_96143502	96138569	G G	GCCTCCAC others(20): Show GCCTCCACCTGCAGCCCCGCCCCAACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG02165.hp1 others(6): Show HG00423.hp1 HG00597.hp2 HG02165.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18959.hp1 NA18983.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0002t0001 a0002c0003t0002	a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0112 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0112 a0002c0002t0001g0123 a0002c0003t0002g0006	9	396	0.0227	27	c.-13 others(36): Show c.-134_-133insTGGTTGGGGCGGGGCTGCAGGTGGAGG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		68		chr2	TogoVar
ASTL_chr2_96117818_96143502	96138597	C C	CCTCCACC others(20): Show CCTCCACCTGCAGCCCCGCCCCAACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02257.hp1 others(6): Show HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp2 NA20129.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0008 a0000c0005t0001g0008	9	396	0.0227	27	c.-16 others(36): Show c.-162_-161insATGGTTGGGGCGGGGCTGCAGGTGGAG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		96		chr2	TogoVar
ASTL_chr2_96117818_96143502	96138624	T T	TCTCCACC others(20): Show TCTCCACCTGCAGCCCCGCCCCAACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(81): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02818.hp1 HG02922.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18939.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19063.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0002c0017 a0001c0008 a0002c0002 a0002c0017	a0001c0008t0001 a0002c0002t0001 a0002c0002t0005 others(2): Show a0001c0008t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0011 a0002c0017t0005	a0001c0008t0001g0085 a0002c0002t0001g0002 a0002c0002t0001g0004 others(30): Show a0001c0008t0001g0085 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0031 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0005g0096 a0002c0002t0005g0099 a0002c0002t0011g0107 a0002c0017t0005g0121	84	396	0.2121	27	c.-18 others(36): Show c.-189_-188insGTGGTTGGGGCGGGGCTGCAGGTGGAG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		123		chr2	TogoVar
ASTL_chr2_96117818_96143502	96138651	C C	CCTCCACC others(20): Show CCTCCACCTGCAGCCCCGCCCCAACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp1 NA18946.hp2 others(4): Show HG00140.hp1 HG00673.hp1 NA18946.hp2 NA18956.hp1 NA18960.hp1 NA18967.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0001 a0002c0002t0001 a0001c0001t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0001g0019 a0001c0008t0001g0126 a0001c0008t0001g0127 others(1): Show a0001c0001t0001g0019 a0001c0008t0001g0126 a0001c0008t0001g0127 a0002c0002t0001g0111	7	396	0.0177	27	c.-21 others(36): Show c.-216_-215insCTGGTTGGGGCGGGGCTGCAGGTGGAG	ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding		150		chr2	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0092 a0001c0002t0004g0092	1	102	0.0098	27	c.188 others(48): Show c.1889+41228_1889+41229insAAAAAAAAAAAAAAAAAAAAAAAA AAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060510	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0098	1	102	0.0098	27	c.127 others(48): Show c.1277-20546_1277-20545insCTTTCTTTCTTTCTTTCTTTCTTT CTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG03710.hp1 HG02080.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0241 a0001c0002t0003g0245 a0001c0002t0003g0241 a0001c0002t0003g0245	2	246	0.0081	27	c.66 others(38): Show c.6623_*6624insCCCTTCCCTTCCCTTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	246	0.0041	27	c.66 others(38): Show c.6623_*6624insCCTTCCTTCCTTCCTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878010	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	246	0.0041	27	c.902 others(44): Show c.902-2107_902-2106insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	246	0.0041	27	c.902 others(44): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02109.hp1 NA18747.hp1 HG01257.hp1 HG02109.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0003g0006 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0003g0006	3	278	0.0108	27	c.320 others(44): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATCAY_chr19_3875685_3933082	3908722	C C	CTCCCCTT others(20): Show CTCCCCTTCCCTCTCCTCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(55): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 NA18962.hp1 NA18986.hp2 NA19004.hp2 NA19066.hp1 NA19079.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0046 a0001c0008t0001	a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0095 others(55): Show a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0274 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0370 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0120 a0001c0001t0002g0149 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0213 a0001c0001t0002g0223 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0283 a0001c0001t0002g0305 a0001c0001t0002g0337 a0001c0001t0002g0360 a0001c0001t0002g0383 a0001c0001t0003g0037 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0003g0322 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0004g0319 a0001c0001t0020g0189 a0001c0001t0020g0273 a0001c0001t0036g0087 a0001c0001t0037g0182 a0001c0001t0040g0217 a0001c0001t0046g0359 a0001c0008t0001g0094	58	384	0.1510	27	c.647 others(42): Show c.647+377_647+403dupTCTTCCCCTTCCCTCTCCTCCTCCCCC	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 NA18946.hp2 NA19080.hp2 HG01243.hp1 NA18946.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	3	354	0.0085	27	c.13 others(38): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding		1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0148 a0001c0001t0061g0148	1	332	0.0030	27	c.180 others(46): Show c.1804+7932_1804+7933insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 NA18960.hp2 others(2): Show HG00423.hp1 HG00621.hp1 NA18960.hp2 NA19000.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0257 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0238 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0293 a0001c0001t0001g0328	5	330	0.0152	27	c.48+ others(44): Show c.48+13586_48+13587insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0081 a0001c0001t0011g0081	1	330	0.0030	27	c.48+ others(44): Show c.48+13109_48+13110insAAATATATATATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	330	0.0030	27	c.48+ others(44): Show c.48+13109_48+13110insAAAAAAATATATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587844	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18970.hp1 NA19084.hp1 HG02683.hp1 NA18970.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0061 a0001c0001t0001g0301 a0001c0001t0001g0304	3	330	0.0091	27	c.48+ others(44): Show c.48+13108_48+13109insTATATATATATATATATATATATATAT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATG10_chr5_81967023_82261133	82118400	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA20905.hp1 HG00735.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0004c0004t0002 a0001c0001t0005 a0004c0004t0002	a0001c0001t0005g0030 a0004c0004t0002g0181 a0001c0001t0005g0030 a0004c0004t0002g0181	2	226	0.0089	27	c.217 others(46): Show c.217-45994_217-45993insATATATATATATATATATATATTATA T	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG2B_chr14_96274195_96368341	96308283	T T	TATATATA others(20): Show TATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0170 a0002c0001t0006g0170	1	356	0.0028	27	c.430 others(46): Show c.4303+1169_4303+1170insTATATATATATATACATATATATATA T	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41			chr14	TogoVar
ATG4D_chr19_10538904_10558418	10555244	G G	GCCCGCAG others(20): Show GCCCGCAGCGCACCTGGCTCCGCCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	406	0.0025	27	c.21 others(38): Show c.2177_*2178insCCCGCAGCGCACCTGGCTCCGCCCTGC	ATG4D	ENSG00000130734.10	transcript	ENST00000309469.9	protein_coding		1827		chr19	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG02559.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0024 a0002c0003t0008 a0001c0002t0024 a0002c0003t0008	a0001c0002t0024g0263 a0002c0003t0008g0278 a0001c0002t0024g0263 a0002c0003t0008g0278	2	292	0.0069	27	c.187 others(46): Show c.1876-1927_1876-1926insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11475908	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	292	0.0034	27	c.207 others(48): Show c.2079+48982_2079+48983insACACACACACACACACACACACAC ACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20			chr3	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	236	0.0042	27	c.364 others(46): Show c.364-10431_364-10405dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758208	C C	CCACCTGC others(20): Show CCACCTGCTCCACCCTAACTCATTCGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG02818.hp1 HG02886.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0021 a0001c0001 a0018c0021	a0001c0001t0001 a0018c0021t0001 a0001c0001t0001 a0018c0021t0001	a0001c0001t0001g0200 a0018c0021t0001g0198 a0001c0001t0001g0200 a0018c0021t0001g0198	2	300	0.0067	27	c.655 others(46): Show c.655-22068_655-22067insATCGAATGAGTTAGGGTGGAGCAGGT G	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758348	C C	CCACCTGC others(20): Show CCACCTGCTCCACCCTAACTCATTCGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0034 a0034	a0034c0059 a0034c0059	a0034c0059t0001 a0034c0059t0001	a0034c0059t0001g0275 a0034c0059t0001g0275	1	300	0.0033	27	c.655 others(46): Show c.655-22208_655-22207insATCGAATGAGTTAGGGTGGAGCAGGT G	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758512	C C	CCGATCAC others(20): Show CCGATCACCTGCTCCACCCTAACTCATT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0104	1	300	0.0033	27	c.655 others(46): Show c.655-22372_655-22371insAATGAGTTAGGGTGGAGCAGGTGATC G	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160650118	T T	TTTATATA others(20): Show TTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0030 a0001c0008t0019g0030	1	236	0.0042	27	c.676 others(42): Show c.676-863_676-862insTATATATATATATATATATATATATAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03710.hp2 HG02895.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0012 a0001c0001t0002 a0001c0005t0012	a0001c0001t0002g0154 a0001c0005t0012g0006 a0001c0001t0002g0154 a0001c0005t0012g0006	2	236	0.0085	27	c.-20 others(48): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAAA AAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP10D_chr4_47480275_47598486	47482454	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG03579.hp1 others(1): Show HG02486.hp1 HG03453.hp1 HG03579.hp1 NA20300.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0003 a0002c0008 a0012c0013 a0001c0003 a0002c0008 a0012c0013	a0001c0003t0001 a0002c0008t0001 a0012c0013t0008 a0001c0003t0001 a0002c0008t0001 a0012c0013t0008	a0001c0003t0001g0024 a0001c0003t0001g0026 a0002c0008t0001g0022 others(1): Show a0001c0003t0001g0024 a0001c0003t0001g0026 a0002c0008t0001g0022 a0012c0013t0008g0023	4	332	0.0121	27	c.-31 others(38): Show c.-3103_-3102insTCTTCTTCTTCTTCTTCTTCTTCTTCT	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding		2820		chr4	TogoVar
ATP11A_chr13_112685038_112892168	112803833	C C	CTCCTCCT others(20): Show CTCCTCCTTCCTCTCCTTCCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp1 HG01255.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0024 a0001c0004 a0001c0024	a0001c0004t0006 a0001c0024t0038 a0001c0004t0006 a0001c0024t0038	a0001c0004t0006g0123 a0001c0024t0038g0043 a0001c0004t0006g0123 a0001c0024t0038g0043	2	254	0.0079	27	c.163 others(44): Show c.163-1115_163-1089dupCCTCTCCTTCCCCTCCTTTTCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804049	T T	TTCACCTC others(20): Show TTCACCTCCCTCCCTGCCATCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18971.hp1 HG01517.hp1 NA18971.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0007c0033 a0001c0005 a0007c0033	a0001c0005t0020 a0007c0033t0001 a0001c0005t0020 a0007c0033t0001	a0001c0005t0020g0247 a0007c0033t0001g0166 a0001c0005t0020g0247 a0007c0033t0001g0166	2	254	0.0079	27	c.163 others(42): Show c.163-907_163-906insCACCTCCCTCCCTGCCATCCCCTCTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139803685	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0007 a0003c0004t0008g0007	1	234	0.0043	27	c.555 others(42): Show c.555+759_555+785dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	6/29			chrX	TogoVar
ATP13A4_chr3_193393967_193559895	193541248	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02615.hp2 HG01256.hp2 HG02615.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0003 a0003c0005t0002 a0003c0005t0003	a0003c0005t0002g0278 a0003c0005t0003g0277 a0003c0005t0002g0278 a0003c0005t0003g0277	2	302	0.0066	27	c.60+ others(44): Show c.60+13491_60+13492insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29			chr3	TogoVar
ATP2B2_chr3_10319023_10510586	10402845	G G	GAGGAGAG others(20): Show GAGGAGAGAAAAGAGAATTTTCTCTAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0179 a0001c0001t0057g0179	1	290	0.0035	27	c.398 others(42): Show c.398-524_398-498dupATTAGAGAAAATTCTCTTTTCTCTCCT	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	3/22			chr3	TogoVar
ATP2B3_chrX_153512642_153587929	153584594	A A	AGGGAGGG others(20): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 NA19043.hp1 HG02886.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0022 a0001c0003 a0001c0022	a0001c0003t0034 a0001c0022t0025 a0001c0003t0034 a0001c0022t0025	a0001c0003t0034g0029 a0001c0022t0025g0234 a0001c0003t0034g0029 a0001c0022t0025g0234	2	267	0.0075	27	c.42 others(38): Show c.4296_*4297insGGGAGGGAGGGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1666		chrX	TogoVar
ATP2C2_chr16_84363538_84469187	84377136	G G	GAGTAGTG others(20): Show GAGTAGTGGAAGCCGTGTGCTAAGTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0047 a0002c0006t0001g0047	1	432	0.0023	27	c.99+ others(42): Show c.99+8461_99+8487dupCCGTGTGCTAAGTCTTAGTAGTGGAAG	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01981.hp1 HG03831.hp2 others(3): Show HG01978.hp2 HG01981.hp1 HG03831.hp2 NA18977.hp1 NA19058.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0007	a0001c0001t0003 a0001c0002t0002 a0001c0005t0001 others(2): Show a0001c0001t0003 a0001c0002t0002 a0001c0005t0001 a0002c0004t0001 a0002c0007t0001	a0001c0001t0003g0202 a0001c0001t0003g0351 a0001c0002t0002g0240 others(3): Show a0001c0001t0003g0202 a0001c0001t0003g0351 a0001c0002t0002g0240 a0001c0005t0001g0190 a0002c0004t0001g0188 a0002c0007t0001g0408	6	432	0.0139	27	c.100 others(42): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	334	0.0030	27	c.32 others(38): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02886.hp2 HG03239.hp1 others(1): Show HG02129.hp2 HG02886.hp2 HG03239.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0094 a0001c0001t0001g0024 a0001c0001t0001g0094	4	418	0.0096	27	c.39+ others(40): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02970.hp2 NA18943.hp1 HG01123.hp2 HG02970.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0011 a0001c0001t0006 a0001c0002t0011	a0001c0001t0006g0000 a0001c0002t0011g0000 a0001c0001t0006g0000 a0001c0002t0011g0000	3	374	0.0080	27	c.12 others(38): Show c.1243_*1244insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01257.hp1 HG01346.hp1 others(7): Show HG01167.hp1 HG01257.hp1 HG01346.hp1 HG02074.hp2 HG02273.hp1 HG02273.hp2 HG03209.hp1 HG03831.hp1 NA19060.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0010 a0002c0002 others(2): Show a0001c0001 a0001c0010 a0002c0002 a0004c0011 a0006c0009	a0001c0001t0001 a0001c0010t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0010t0004 a0002c0002t0001 a0004c0011t0001 a0006c0009t0001	a0001c0001t0001g0098 a0001c0001t0001g0126 a0001c0001t0001g0220 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0126 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0010t0004g0171 a0002c0002t0001g0086 a0002c0002t0001g0247 a0002c0002t0001g0296 a0004c0011t0001g0063 a0006c0009t0001g0224	10	376	0.0266	27	c.157 others(46): Show c.1572+2426_1572+2427insTATATATATATATATATATATATATA T	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(37): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp2 HG01358.hp1 HG01516.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG03098.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp2 NA18944.hp2 NA18948.hp1 NA18999.hp1 NA18999.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0010 a0001c0014 others(5): Show a0001c0001 a0001c0010 a0001c0014 a0002c0002 a0002c0003 a0002c0019 a0003c0036 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0010t0002 a0001c0014t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0019t0003 a0003c0036t0001 a0006c0009t0001	a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0070 others(37): Show a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0229 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0304 a0001c0001t0001g0317 a0001c0001t0001g0326 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0361 a0001c0001t0001g0365 a0001c0001t0002g0187 a0001c0001t0002g0331 a0001c0001t0003g0102 a0001c0001t0005g0245 a0001c0001t0014g0376 a0001c0010t0002g0197 a0001c0010t0002g0362 a0001c0014t0001g0125 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0203 a0002c0002t0001g0256 a0002c0002t0001g0260 a0002c0002t0001g0307 a0002c0003t0001g0066 a0002c0003t0002g0065 a0002c0019t0003g0279 a0003c0036t0001g0046 a0006c0009t0001g0202 a0006c0009t0001g0223	40	376	0.1064	27	c.132 others(44): Show c.1321-379_1321-378insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(20): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02622.hp1 HG03654.hp1 others(3): Show HG00642.hp1 HG02622.hp1 HG03654.hp1 HG06807.hp2 NA18522.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0040 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016 a0001c0003t0007	a0001c0001t0001g0036 a0001c0001t0040g0038 a0001c0002t0001g0039 others(3): Show a0001c0001t0001g0036 a0001c0001t0040g0038 a0001c0002t0001g0039 a0001c0002t0003g0088 a0001c0002t0016g0011 a0001c0003t0007g0109	6	122	0.0492	27	c.318 others(48): Show c.3184-24210_3184-24209insCTTTTTTTTTTTTTTTTTTTTTTT TTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18964.hp1 NA19054.hp2 HG03491.hp2 NA18964.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0036 a0001c0001t0002 a0001c0001t0015 a0001c0001t0036	a0001c0001t0002g0220 a0001c0001t0015g0177 a0001c0001t0036g0179 a0001c0001t0002g0220 a0001c0001t0015g0177 a0001c0001t0036g0179	3	314	0.0096	27	c.163 others(46): Show c.1630+3758_1630+3759insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50087308	A A	ATATAATA others(20): Show ATATAATAGATATAGATCTATATTTATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0010 a0012c0013t0010	a0012c0013t0010g0223 a0012c0013t0010g0223	1	254	0.0039	27	c.29- others(44): Show c.29-13124_29-13123insCATAAATATAGATCTATATCTATTATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51651237	C C	CATAATAT others(20): Show CATAATATATATTTACATAATATATTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 HG02615.hp1 others(2): Show HG00140.hp1 HG01515.hp1 HG02615.hp1 HG04199.hp2 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0020 a0001c0003 a0001c0004 a0001c0020	a0001c0003t0007 a0001c0003t0028 a0001c0003t0079 others(2): Show a0001c0003t0007 a0001c0003t0028 a0001c0003t0079 a0001c0004t0070 a0001c0020t0009	a0001c0003t0007g0307 a0001c0003t0028g0095 a0001c0003t0079g0312 others(2): Show a0001c0003t0007g0307 a0001c0003t0028g0095 a0001c0003t0079g0312 a0001c0004t0070g0165 a0001c0020t0009g0127	5	312	0.0160	27	c.150 others(46): Show c.1506+5674_1506+5700dupATAATATATTATGTAAATATATATTA T	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar

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Search Results (Total: 7463 hits)