Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(21): Show TATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	166	0.0060	28	c.488 others(49): Show c.488+105700_488+105701insTATATATATATATATATATAGAGA GAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(21): Show TATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	166	0.0060	28	c.488 others(49): Show c.488+105700_488+105701insTATATATATATATATATATATAGA GAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86411020	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00639.hp2 others(34): Show HG00423.hp1 HG00609.hp1 HG00639.hp2 HG01255.hp1 HG01261.hp1 HG01884.hp2 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02559.hp1 HG02559.hp2 HG02738.hp1 HG03225.hp1 HG04228.hp1 NA18906.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18962.hp1 NA18965.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0025 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0004g0125 a0001c0004t0001g0150	37	166	0.2229	28	c.527 others(47): Show c.527+34177_527+34178insATATATATATATATATATATATATAT AT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86533037	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	166	0.0060	28	c.640 others(47): Show c.640+18665_640+18666insATTTATTTATTTATTTATTTATTTAT TT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(21): Show CTTCTTCTTCTTCCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02129.hp1 HG02135.hp1 others(1): Show HG02080.hp2 HG02129.hp1 HG02135.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0141	4	166	0.0241	28	c.640 others(47): Show c.640+32013_640+32014insTTCTTCTTCTTCCTTCTTCTTCCTTC TT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86599466	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04199.hp1 NA18994.hp1 others(1): Show HG02622.hp1 HG04199.hp1 NA18994.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0107 a0001c0001t0002g0032 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0107 a0001c0001t0002g0032 a0001c0001t0002g0042	4	166	0.0241	28	c.641 others(47): Show c.641-51545_641-51518dupTTTCTTTCTTTCTTTCTTTCTTTCTT TC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86667305	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	166	0.0060	28	c.772 others(47): Show c.772+16163_772+16190dupGAAGGAAGGAAGGAAGGAAGGAAGGA AG	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86667545	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	166	0.0060	28	c.772 others(47): Show c.772+16380_772+16381insAGAAAGAAAGAAAGAAGAAAGAAAGA AA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86667614	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	166	0.0060	28	c.772 others(47): Show c.772+16449_772+16450insAAAGAAAGAAAGAAAGAAAGGCAGGC AG	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03041.hp1 HG03471.hp1 others(1): Show HG02735.hp1 HG03041.hp1 HG03471.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0056 a0001c0001t0001g0160	4	166	0.0241	28	c.932 others(45): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT1_chr14_58632962_58653321	58652840	T T	TCCCTCTC others(21): Show TCCCTCTCTCCTTCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA21309.hp2 HG01978.hp1 NA21309.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	2	388	0.0052	28	c.57 others(39): Show c.5706_*5707insCCCTCTCTCCTTCCTCCCTCCCTCCCTC	DACT1	ENSG00000165617.16	transcript	ENST00000395153.8	protein_coding		4520		chr14	TogoVar
DACT2_chr6_168301904_168324777	168311593	C C	CACACTCA others(21): Show CACACTCACACACAAACACACACACCCAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00735.hp2 others(50): Show HG00323.hp1 HG00621.hp2 HG00735.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG04204.hp2 HG06807.hp2 NA18943.hp2 NA18945.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18986.hp1 NA18993.hp2 NA18995.hp2 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19075.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp2 NA20905.hp1 NA20905.hp2	a0002 a0006 a0012 a0002 a0006 a0012	a0002c0002 a0002c0003 a0002c0005 others(3): Show a0002c0002 a0002c0003 a0002c0005 a0002c0009 a0006c0008 a0012c0017	a0002c0002t0002 a0002c0003t0003 a0002c0003t0006 others(6): Show a0002c0002t0002 a0002c0003t0003 a0002c0003t0006 a0002c0005t0003 a0002c0005t0006 a0002c0009t0005 a0002c0009t0007 a0006c0008t0006 a0012c0017t0004	a0002c0002t0002g0166 a0002c0003t0003g0007 a0002c0003t0003g0012 others(37): Show a0002c0002t0002g0166 a0002c0003t0003g0007 a0002c0003t0003g0012 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0040 a0002c0003t0003g0045 a0002c0003t0003g0091 a0002c0003t0003g0093 a0002c0003t0003g0106 a0002c0003t0003g0109 a0002c0003t0003g0168 a0002c0003t0003g0169 a0002c0003t0003g0170 a0002c0003t0003g0174 a0002c0003t0003g0175 a0002c0003t0003g0184 a0002c0003t0006g0018 a0002c0003t0006g0246 a0002c0003t0006g0258 a0002c0003t0006g0283 a0002c0003t0006g0289 a0002c0003t0006g0314 a0002c0005t0003g0180 a0002c0005t0006g0009 a0002c0005t0006g0030 a0002c0005t0006g0031 a0002c0005t0006g0063 a0002c0005t0006g0226 a0002c0005t0006g0272 a0002c0005t0006g0284 a0002c0005t0006g0285 a0002c0009t0005g0211 a0002c0009t0005g0308 a0002c0009t0007g0044 a0002c0009t0007g0171 a0002c0009t0007g0186 a0006c0008t0006g0010 a0006c0008t0006g0259 a0012c0017t0004g0149	53	476	0.1113	28	c.247 others(43): Show c.247-310_247-309insATGGGTGTGTGTGTTTGTGTGTGAGTGT	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT3_chr19_46642551_46666182	46653539	T T	TTTTTTTT others(21): Show TTTTTTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	460	0.0022	28	c.250 others(43): Show c.250-465_250-464insTAAATAAATAAATAAATAAATAAAAAAA	DACT3	ENSG00000197380.11	transcript	ENST00000391916.7	protein_coding	1/3			chr19	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	380	0.0026	28	c.929 others(43): Show c.929+202_929+229dupATATATATATATATATATATATATATAT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14			chr7	TogoVar
DAOA_chr13_105461045_105496034	105492469	C C	CTTAATAT others(21): Show CTTAATATATTATACTCAGACAGTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	412	0.0024	28	c.16 others(39): Show c.1669_*1670insTTAATATATTATACTCAGACAGTTATTA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		1436		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(21): Show CTCTCTCTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	412	0.0024	28	c.26 others(39): Show c.2622_*2623insTCTCTCTATATATATATATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 NA19055.hp1 HG02698.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0205 a0002c0002t0001g0096 a0001c0001t0001g0205 a0002c0002t0001g0096	2	412	0.0049	28	c.26 others(39): Show c.2622_*2623insTCTCTCTCTATATATATATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	412	0.0024	28	c.26 others(39): Show c.2622_*2623insTCTCTCTCTCTATATATATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0033 a0002c0002t0004g0033	2	412	0.0049	28	c.26 others(39): Show c.2622_*2623insTCTCTCTCTCTCTCTCTCTCTATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAO_chr12_108875092_108906043	108896419	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19030.hp1 NA19240.hp1 HG02647.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0148	3	388	0.0077	28	c.613 others(43): Show c.613-564_613-563insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGAAAGG others(21): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01106.hp2 others(11): Show HG00280.hp1 HG00733.hp1 HG01106.hp2 HG01168.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG03130.hp2 HG03139.hp2 NA18747.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0094 a0001c0001t0002g0014 a0001c0001t0002g0031 others(11): Show a0001c0001t0001g0094 a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0123 a0001c0001t0002g0176 a0001c0002t0001g0208 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0277 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0287	14	388	0.0361	28	c.27 others(39): Show c.2752_*2753insAGAAAGGAAGGAAGGAAGGAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG02647.hp1 others(2): Show HG01433.hp1 HG02109.hp1 HG02647.hp1 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0077 a0001c0001t0003g0017 a0001c0001t0003g0068 others(2): Show a0001c0001t0001g0077 a0001c0001t0003g0017 a0001c0001t0003g0068 a0001c0001t0003g0081 a0001c0002t0003g0290	5	388	0.0129	28	c.27 others(39): Show c.2752_*2753insAGGAAGGAAGGAAGGAAGGAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAP3_chr1_155684091_155744010	155738972	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0257 a0001c0001t0021g0257	1	288	0.0035	28	c.73 others(37): Show c.737_*764dupATAAATAAATAAATAAATAAATAAATAA	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	13/13	765	INFO_REALIGN_3_PRIME	chr1	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACCCCCCA others(21): Show ACCCCCCAACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0015	1	236	0.0042	28	c.63- others(45): Show c.63-33479_63-33478insCCCCAACACACACACACACACACCCCCC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(21): Show CCCAACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG03486.hp1 others(3): Show HG00099.hp1 HG00673.hp2 HG03486.hp1 HG03491.hp1 HG04228.hp2 NA18962.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0037 others(1): Show a0001c0001 a0001c0005 a0001c0037 a0005c0014	a0001c0001t0001 a0001c0005t0001 a0001c0037t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0037t0001 a0005c0014t0001	a0001c0001t0001g0098 a0001c0001t0001g0220 a0001c0005t0001g0052 others(3): Show a0001c0001t0001g0098 a0001c0001t0001g0220 a0001c0005t0001g0052 a0001c0005t0001g0135 a0001c0037t0001g0014 a0005c0014t0001g0067	6	236	0.0254	28	c.63- others(45): Show c.63-33457_63-33456insCCAACACACACACACACACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571498	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0199 a0002c0003t0001g0199	1	236	0.0042	28	c.63- others(45): Show c.63-33453_63-33426dupACACACACACACACACACACACACACAC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87675848	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	236	0.0042	28	c.200 others(47): Show c.2002-5535_2002-5508dupACACACACACACACACACACACACAC AC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK2_chr15_63902036_64051485	64033287	G G	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01106.hp1 others(21): Show HG00558.hp2 HG00621.hp1 HG01106.hp1 HG01346.hp2 HG01361.hp2 HG02004.hp2 HG02083.hp1 HG02293.hp2 HG02451.hp2 HG02630.hp2 HG02683.hp2 HG02896.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 NA19000.hp2 NA19043.hp2 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 a0001c0001t0033 a0001c0006t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 others(21): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0183 a0001c0001t0013g0066 a0001c0001t0020g0090 a0001c0001t0033g0095 a0001c0006t0001g0094	24	214	0.1122	28	c.92+ others(43): Show c.92+6855_92+6882dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPP1_chr4_99811827_99875190	99814176	G G	GTATCTAT others(21): Show GTATCTATCTATCTATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	366	0.0027	28	c.-27 others(39): Show c.-2738_-2737insTATCTATCTATCTATCTATCTATCTATC	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding		2650		chr4	TogoVar
DAPP1_chr4_99811827_99875190	99814180	G G	GTATCTAT others(21): Show GTATCTATCTATCTATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	366	0.0027	28	c.-27 others(39): Show c.-2734_-2733insTATCTATCTATCTATCTATCTATCTATC	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding		2646		chr4	TogoVar
DAW1_chr2_227866631_227929344	227913881	A A	ATCTATCT others(21): Show ATCTATCTATCTATCTATCTATCTATCTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	340	0.0029	28	c.974 others(45): Show c.974-4896_974-4895insATCTATCTATCTATCTATCTATCTGTCT	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	446	0.0022	28	c.-43 others(39): Show c.-4392_-4391insTATATATATATATACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	446	0.0022	28	c.-43 others(39): Show c.-4392_-4391insTATATATATATACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01081.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0003g0056 a0001c0001t0001g0024 a0001c0001t0003g0056	2	446	0.0045	28	c.-43 others(39): Show c.-4392_-4391insTATATATATACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01928.hp1 HG03130.hp2 HG00735.hp2 HG01928.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0001g0127 a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0001g0127	3	446	0.0067	28	c.-43 others(39): Show c.-4392_-4391insTATATACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02148.hp1 HG02293.hp2 others(2): Show HG00642.hp2 HG02148.hp1 HG02293.hp2 NA18906.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0003t0001g0011 a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0003t0001g0011	5	446	0.0112	28	c.-43 others(39): Show c.-4392_-4391insTATACACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02738.hp2 others(2): Show HG01257.hp1 HG01258.hp2 HG02738.hp2 HG02896.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 a0001c0001t0001 a0001c0001t0015 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0015g0061 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0015g0061 a0001c0003t0001g0011	5	446	0.0112	28	c.-43 others(39): Show c.-4392_-4391insTACACACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA19000.hp1 NA21309.hp1 HG02735.hp2 NA19000.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0001g0242 a0001c0001t0002g0022 a0001c0001t0002g0039	3	288	0.0104	28	c.225 others(45): Show c.225+2682_225+2683insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF10_chr9_37795797_37872664	37816659	G G	GGGGTGTG others(21): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	356	0.0028	28	c.540 others(45): Show c.540-2628_540-2627insGGTGTGTGTGTGTGTGTGTGTGTGTGTG	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF5_chr14_69045881_69158119	69102591	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	244	0.0041	28	c.666 others(47): Show c.666-10732_666-10705dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp2 HG01928.hp1 others(8): Show HG00735.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG02056.hp2 HG02165.hp1 HG02451.hp2 HG02735.hp2 HG03654.hp2 NA18945.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0004t0003 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003	a0001c0001t0002g0010 a0001c0001t0002g0054 a0001c0001t0002g0067 others(8): Show a0001c0001t0002g0010 a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0084 a0001c0001t0002g0176 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0051 a0001c0001t0003g0060 a0001c0004t0003g0029	11	244	0.0451	28	c.665 others(47): Show c.665+10424_665+10451dupATATATATATATATATATATATATAT AT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF7_chr17_63545477_63599266	63559399	G G	GTGTATAT others(21): Show GTGTATATATATATGTATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02572.hp1 others(4): Show HG02451.hp1 HG02486.hp1 HG02572.hp1 HG03130.hp2 HG03209.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0113 a0001c0002t0002g0027 a0001c0002t0002g0028 others(4): Show a0001c0001t0010g0113 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0033	7	262	0.0267	28	c.138 others(45): Show c.138+8585_138+8586insGTATATATATATGTATATATATGTGTAT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF7_chr17_63545477_63599266	63559431	A A	ATGTATAT others(21): Show ATGTATATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	262	0.0076	28	c.138 others(45): Show c.138+8619_138+8620insATATATATGTGTATATATATATGTGTGT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18977.hp1 NA18992.hp2 others(4): Show HG02129.hp1 NA18977.hp1 NA18992.hp2 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0244 a0002c0002t0002g0243 a0002c0002t0002g0246 others(4): Show a0001c0001t0001g0244 a0002c0002t0002g0243 a0002c0002t0002g0246 a0003c0003t0001g0240 a0003c0003t0001g0242 a0004c0004t0001g0241 a0004c0004t0001g0245	7	262	0.0267	28	c.-34 others(45): Show c.-342+575_-342+576insTATATATATATATATATATATATATATA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27606358	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02809.hp2 others(7): Show HG02451.hp2 HG02717.hp1 HG02809.hp2 HG03041.hp2 HG03540.hp2 HG03669.hp2 NA18956.hp1 NA19012.hp1 NA19078.hp2 NA19088.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0008 a0010 a0014	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0006c0006 a0008c0008 a0010c0010 a0014c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0004c0004t0002 a0004c0004t0003 a0006c0006t0001 a0008c0008t0003 a0010c0010t0001 a0014c0014t0003	a0001c0001t0001g0033 a0001c0001t0002g0029 a0002c0002t0002g0118 others(7): Show a0001c0001t0001g0033 a0001c0001t0002g0029 a0002c0002t0002g0118 a0002c0002t0002g0143 a0004c0004t0002g0009 a0004c0004t0003g0066 a0006c0006t0001g0096 a0008c0008t0003g0058 a0010c0010t0001g0044 a0014c0014t0003g0069	10	262	0.0382	28	c.-34 others(49): Show c.-342+15942_-342+15943insATATATATATATATATATATATAT ATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00558.hp2 HG00597.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0001 a0007c0007t0002g0001	2	262	0.0076	28	c.-14 others(49): Show c.-142-11914_-142-11913insTATATATATATATATATACACACA CACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18975.hp2 NA18981.hp2 others(2): Show HG02071.hp1 NA18975.hp2 NA18981.hp2 NA19012.hp1 NA19091.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0002c0002t0002 a0004c0004t0002	a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0014 others(2): Show a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0052 a0004c0004t0002g0009	5	262	0.0191	28	c.-14 others(49): Show c.-142-11914_-142-11913insTATATATATATATATATATACACA CACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	262	0.0038	28	c.-14 others(49): Show c.-142-11914_-142-11913insTATATATATATATATATATATACA CACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAKD_chr17_45018344_45056632	45051699	A A	ACGGGCGG others(21): Show ACGGGCGGGGCCGGGAGAGGTTGGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	408	0.0025	28	c.-48 others(37): Show c.-481_-454dupCCCACCCAACCTCTCCCGGCCCCGCCCG	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		68		chr17	TogoVar
DCBLD2_chr3_98790941_98906695	98839144	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0104 a0001c0002t0015g0104	1	330	0.0030	28	c.571 others(47): Show c.571+10316_571+10317insAGAAAGAAAGAAAGAAAGAAGGAAGG AA	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar

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Search Results (Total: 10000 hits)