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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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
DDX51_chr12_132131594_132149319	132135309	TCCTCCCA others(26): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-33	c.39 others(44): Show c.3930_*3962delGCGGGCACCGGGGCACACTCGGGAGGTGGGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1284		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135320	CCCGAGTG others(26): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0053 a0011c0019t0002g0053	1	334	0.0030	-33	c.39 others(44): Show c.3919_*3951delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1273		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135780	CCCGAGTG others(26): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0039 a0004c0004t0039	a0004c0004t0039g0082 a0004c0004t0039g0082	1	334	0.0030	-33	c.34 others(44): Show c.3459_*3491delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		813		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135814	CCCGAGTG others(26): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0004 a0002c0002t0004g0004	1	334	0.0030	-33	c.34 others(44): Show c.3425_*3457delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		779		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135883	CCCGAGTG others(26): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-33	c.33 others(44): Show c.3356_*3388delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		710		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135917	CCCGAGTG others(26): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02145.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0007 a0001c0001t0001g0001 a0001c0001t0007g0007	2	334	0.0060	-33	c.33 others(44): Show c.3322_*3354delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		676		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136011	TCCTCCCA others(26): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	334	0.0030	-33	c.32 others(44): Show c.3228_*3260delGCGGGCACCGGGGCACACTCGGGAGGTGGGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		582		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136200	CCCGAGTG others(26): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18951.hp2 NA18960.hp1 others(4): Show NA18747.hp2 NA18951.hp2 NA18960.hp1 NA18970.hp1 NA18991.hp1 NA19010.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0020 a0002c0002t0003 a0002c0002t0020	a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0020g0029 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0020g0029	7	334	0.0210	-33	c.30 others(44): Show c.3039_*3071delAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		393		chr12	TogoVar
DEF8_chr16_89943755_89973060	89957236	AAGGAAGT others(26): Show AAGGAAGTTGTCTTTTGAAAAGCAACTTTCAAAC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0055 a0004c0007t0005g0055	1	392	0.0026	-33	c.223 others(48): Show c.223-273_223-241delGGAAGTTGTCTTTTGAAAAGCAACTTTCAA ACA	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB123_chr20_31435632_31455257	31450550	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	372	0.0027	-33	c.37 others(42): Show c.377_*409delTATATATATATATATATATATTTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		294		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31471451	GCGGGGGA others(26): Show GCGGGGGACTGACCCCCCCCACCTCCCTCCCGGA	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19004.hp1 NA18957.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	362	0.0055	-33	c.58+ others(48): Show c.58+1472_58+1504delTCCGGGAGGGAGGTGGGGGGGGTCAGTCCC CCG	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DGCR8_chr22_20075241_20116872	20085367	GAGTTAGA others(26): Show GAGTTAGAAGAATGCTGTGGTGGAGTTTAGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	419	0.0024	-33	c.-27 others(50): Show c.-277-318_-277-286delGTTAGAAGAATGCTGTGGTGGAGTTTAG TGTAA	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKD_chr2_233349494_233477098	233404054	TTTTACAT others(26): Show TTTTACATGTGTTATATACATGTATAATTTTGTG	T T	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	336	0.0030	-33	c.348 others(52): Show c.348+13601_348+13633delTGTGTTTACATGTGTTATATACATGT ATAATTT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKE_chr17_56829151_56874567	56851134	TACCACAT others(26): Show TACCACATCACTCAGAGAGCAGTAGTATAGAGTC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18979.hp2 NA18952.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0119 a0001c0002t0004g0120	2	324	0.0062	-33	c.109 others(52): Show c.1098+1935_1098+1967delCACCACATCACTCAGAGAGCAGTAGT ATAGAGT	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
DGKG_chr3_186142201_186367234	186348447	TAATCTTT others(26): Show TAATCTTTTTTTTTTTTTTTTTTTTGAGATAGGG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0040 a0004c0007t0004g0040	1	234	0.0043	-33	c.-24 others(54): Show c.-249+13466_-249+13498delCCCTATCTCAAAAAAAAAAAAAAA AAAAAGATT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DHH_chr12_49081656_49099801	49093324	GTGGGAGG others(26): Show GTGGGAGGATCCCTTGAGCTCAGGAGTTCAAGAC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	424	0.0024	-33	c.303 others(48): Show c.303+853_303+885delGTCTTGAACTCCTGAGCTCAAGGGATCCTC CCA	DHH	ENSG00000139549.4	transcript	ENST00000649637.2	protein_coding	1/2			chr12	TogoVar
DHODH_chr16_72003744_72032659	72028125	AAAAGAAA others(26): Show AAAAGAAATGGAGGGTTTAGCAGGTTACTTTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0010 a0002c0002t0035g0010	1	414	0.0024	-33	c.39 others(44): Show c.3927_*3959delAAAGAAATGGAGGGTTTAGCAGGTTACTTTGGG	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding		467		chr16	TogoVar
DHRS4_chr14_23948770_23974279	23974245	AACAGTGT others(26): Show AACAGTGTGTAGAGGGATATTTACAGCACTGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03225.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0007 a0005c0010t0007 a0002c0002t0007 a0005c0010t0007	a0002c0002t0007g0038 a0005c0010t0007g0036 a0005c0010t0007g0039 a0002c0002t0007g0038 a0005c0010t0007g0036 a0005c0010t0007g0039	3	267	0.0112	-33	c.53 others(44): Show c.5375_*5407delACAGTGTGTAGAGGGATATTTACAGCACTGAAT	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding		4967		chr14	TogoVar
DHRSX_chrX_2214506_2505976	2397948	ACACACAT others(26): Show ACACACATAGATACATATGCCAACAGGCTGATCT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18522.hp1 HG02895.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0035 a0002c0002t0004g0031 a0002c0002t0004g0035	2	50	0.0400	-33	c.286 others(52): Show c.286+10764_286+10796delAGATCAGCCTGTTGGCATATGTATCT ATGTGTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX36_chr3_154267546_154329487	154310797	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	366	0.0027	-33	c.642 others(48): Show c.642+806_642+838delATATATATATATATATATATATATTTTTTT TTT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DIP2A_chr21_46453891_46575015	46495215	TTCTCTTC others(26): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0016 a0002c0011t0016	a0002c0011t0016g0192 a0002c0011t0016g0192	1	374	0.0027	-33	c.284 others(50): Show c.284-1767_284-1735delTCTCTTCTCTTCTCTTCTCTTCTTTCTC TCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18955.hp1 NA18998.hp2 HG01071.hp1 NA18955.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0004t0005g0277 a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0004t0005g0277	3	284	0.0106	-33	c.101 others(52): Show c.101-46331_101-46299delATATATATATATATATATATATATAT ATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0139 a0001c0001t0035g0139	1	284	0.0035	-33	c.101 others(52): Show c.101-46330_101-46298delTATATATATATATATATATATATATA TATATAT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2C_chr10_269201_694668	295560	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp1 others(29): Show HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01099.hp2 HG01258.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG03834.hp2 HG03942.hp1 NA18747.hp1 NA18906.hp2 NA18962.hp2 NA18970.hp2 NA19007.hp2 NA19066.hp2 NA19074.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0011t0003 a0001c0015t0002 a0001c0016t0009 a0001c0019t0006 a0001c0020t0008 a0001c0023t0003	a0001c0001t0001g0049 a0001c0001t0002g0004 a0001c0001t0002g0025 others(29): Show a0001c0001t0001g0049 a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0003g0012 a0001c0001t0003g0085 a0001c0001t0010g0020 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0002g0055 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0063 a0001c0002t0003g0082 a0001c0004t0001g0041 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0011t0003g0088 a0001c0015t0002g0083 a0001c0016t0009g0073 a0001c0019t0006g0014 a0001c0020t0008g0074 a0001c0023t0003g0071	32	88	0.3636	-33	c.398 others(52): Show c.3987-7172_3987-7140delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	32/36			chr10	TogoVar
DIP2C_chr10_269201_694668	337016	TGTGTGTG others(26): Show TGTGTGTGTGTGTGTGTTGTGGAGGCCTAGACTG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	88	0.0114	-33	c.358 others(52): Show c.3584+4150_3584+4182delCAGTCTAGGCCTCCACAACACACACA CACACAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36			chr10	TogoVar
DIP2C_chr10_269201_694668	445613	CAACTGTT others(26): Show CAACTGTTGCGAAGAGTCTATCTTGCACTGGGCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02280.hp1 others(17): Show HG01081.hp2 HG01099.hp2 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0001c0018t0003 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0061 others(17): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0061 a0001c0002t0001g0080 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0082 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0009 a0001c0005t0002g0010 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0010t0002g0001 a0001c0018t0003g0011 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	20	88	0.2273	-33	c.269 others(50): Show c.269-4650_269-4618delTGCCCAGTGCAAGATAGACTCTTCGCAA CAGTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	685158	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATACATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0083 a0001c0015t0002g0083	1	88	0.0114	-33	c.85+ others(48): Show c.85+4303_85+4335delATATGTATATATATATATATATATATATAT TTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92940995	TTGTATAT others(26): Show TTGTATATTCCAGATACTAGTCCTTTGTGAGATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(104): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18962.hp2 NA18970.hp2 NA18979.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19077.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0004c0008t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(104): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0002g0187 a0001c0001t0004g0188 a0001c0001t0007g0186 a0001c0001t0007g0190 a0001c0001t0008g0123 a0001c0001t0008g0129 a0001c0001t0009g0120 a0004c0008t0001g0181	107	200	0.5350	-33	c.54+ others(50): Show c.54+20348_54+20380delTATCTCACAAAGGACTAGTATCTGGAAT ATACA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DLC1_chr8_13078361_13519851	13188813	ATATATAT others(26): Show ATATATATATATATGTATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0003 a0005c0012t0003	a0005c0012t0003g0019 a0005c0012t0003g0019	1	212	0.0047	-33	c.134 others(54): Show c.1349-73189_1349-73157delAAATATATATATATATATACATAT ATATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13188815	ATATATAT others(26): Show ATATATATATATGTATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0018 a0018	a0018c0040 a0018c0040	a0018c0040t0003 a0018c0040t0003	a0018c0040t0003g0083 a0018c0040t0003g0083	1	212	0.0047	-33	c.134 others(54): Show c.1349-73191_1349-73159delAAAAATATATATATATATATACAT ATATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13188817	ATATATAT others(26): Show ATATATATATGTATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18979.hp2 NA18983.hp1 HG03017.hp2 NA18979.hp2 NA18983.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0008 a0003c0003 a0004c0005 a0005c0008	a0003c0003t0004 a0004c0005t0002 a0005c0008t0003 a0003c0003t0004 a0004c0005t0002 a0005c0008t0003	a0003c0003t0004g0131 a0004c0005t0002g0169 a0005c0008t0003g0021 a0003c0003t0004g0131 a0004c0005t0002g0169 a0005c0008t0003g0021	3	212	0.0142	-33	c.134 others(54): Show c.1349-73193_1349-73161delAAAAAAATATATATATATATATAC ATATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13188819	ATATATAT others(26): Show ATATATATGTATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18986.hp1 HG01516.hp1 NA18986.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0004c0005t0033 a0002c0002t0002 a0004c0005t0033	a0002c0002t0002g0098 a0004c0005t0033g0184 a0002c0002t0002g0098 a0004c0005t0033g0184	2	212	0.0094	-33	c.134 others(54): Show c.1349-73195_1349-73163delAAAAAAAAATATATATATATATAT ACATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13188821	ATATATGT others(26): Show ATATATGTATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03098.hp2 HG03490.hp1 others(1): Show HG02602.hp2 HG03098.hp2 HG03490.hp1 HG03579.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0021 a0006c0032 others(1): Show a0001c0001 a0002c0021 a0006c0032 a0008c0010	a0001c0001t0001 a0002c0021t0018 a0006c0032t0005 others(1): Show a0001c0001t0001 a0002c0021t0018 a0006c0032t0005 a0008c0010t0013	a0001c0001t0001g0075 a0002c0021t0018g0012 a0006c0032t0005g0159 others(1): Show a0001c0001t0001g0075 a0002c0021t0018g0012 a0006c0032t0005g0159 a0008c0010t0013g0190	4	212	0.0189	-33	c.134 others(54): Show c.1349-73197_1349-73165delAAAAAAAAAAATATATATATATAT ATACATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13188823	ATATGTAT others(26): Show ATATGTATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 NA20300.hp1 HG02109.hp2 HG02559.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0006 a0001c0001 a0001c0011 a0002c0006	a0001c0001t0042 a0001c0011t0003 a0002c0006t0035 a0001c0001t0042 a0001c0011t0003 a0002c0006t0035	a0001c0001t0042g0042 a0001c0011t0003g0049 a0002c0006t0035g0016 a0001c0001t0042g0042 a0001c0011t0003g0049 a0002c0006t0035g0016	3	212	0.0142	-33	c.134 others(54): Show c.1349-73199_1349-73167delAAAAAAAAAAAAATATATATATAT ATATACATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197132576	TATTAAAT others(26): Show TATTAAATAGCTGTGGCATACTGCTGAAATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(155): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0006 a0008 others(3): Show a0001 a0006 a0008 a0009 a0011 a0013	a0001c0001 a0001c0004 a0001c0013 others(5): Show a0001c0001 a0001c0004 a0001c0013 a0006c0017 a0008c0010 a0009c0011 a0011c0014 a0013c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0004t0001 a0001c0013t0001 a0006c0017t0001 a0008c0010t0001 a0009c0011t0001 a0011c0014t0004 a0013c0016t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(155): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0003g0028 a0001c0001t0003g0086 a0001c0001t0003g0293 a0001c0001t0004g0007 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0250 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0281 a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0001t0004g0289 a0001c0001t0005g0262 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0011g0001 a0001c0001t0012g0002 a0001c0001t0015g0030 a0001c0001t0016g0261 a0001c0001t0017g0257 a0001c0001t0018g0254 a0001c0004t0001g0263 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0013t0001g0288 a0006c0017t0001g0089 a0008c0010t0001g0095 a0009c0011t0001g0064 a0011c0014t0004g0206 a0013c0016t0001g0044	158	332	0.4759	-33	c.102 others(52): Show c.1021-1938_1021-1906delGTGTATTTCAGCAGTATGCCACAGCT ATTTAAT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	10/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197132961	GCTGAAAT others(26): Show GCTGAAATACACATTAAATAGCTGTGGTATACTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(161): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0006 a0008 others(3): Show a0001 a0006 a0008 a0009 a0011 a0013	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0006c0017 a0008c0010 a0009c0011 a0011c0014 a0013c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0003t0004 a0001c0004t0001 a0001c0006t0004 a0001c0013t0001 a0006c0017t0001 a0008c0010t0001 a0009c0011t0001 a0011c0014t0004 a0013c0016t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(161): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0003g0028 a0001c0001t0003g0086 a0001c0001t0003g0293 a0001c0001t0004g0007 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0250 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0281 a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0001t0004g0289 a0001c0001t0005g0262 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0011g0001 a0001c0001t0012g0002 a0001c0001t0015g0030 a0001c0001t0016g0261 a0001c0001t0017g0257 a0001c0001t0018g0254 a0001c0003t0004g0209 a0001c0003t0004g0213 a0001c0003t0004g0214 a0001c0004t0001g0263 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0006t0004g0174 a0001c0006t0004g0175 a0001c0013t0001g0288 a0006c0017t0001g0089 a0008c0010t0001g0095 a0009c0011t0001g0064 a0011c0014t0004g0206 a0013c0016t0001g0044	164	332	0.4940	-33	c.102 others(52): Show c.1021-2323_1021-2291delAAGTATACCACAGCTATTTAATGTGT ATTTCAG	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	10/24			chr3	TogoVar
DLGAP2_chr8_732628_1713476	1010950	ACCCCGGG others(26): Show ACCCCGGGCGAGGGGCCTCAGTCTGCATGGTGAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18906.hp2 HG02976.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0022 a0002c0001t0002 a0001c0002t0022 a0002c0001t0002	a0001c0002t0022g0034 a0002c0001t0002g0032 a0001c0002t0022g0034 a0002c0001t0002g0032	2	40	0.0500	-33	c.73+ others(52): Show c.73+103008_73+103040delGCATGGTGAGCCCCGGGCGAGGGGCC TCAGTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1013598	CGCCTCCA others(26): Show CGCCTCCACTGTGTGTGTGACCAGGACAGACGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	-33	c.73+ others(52): Show c.73+105664_73+105696delGTGCCTCCACTGTGTGTGTGACCAGG ACAGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014688	CGCCTCCA others(26): Show CGCCTCCACTGCGTGTGTGACCAGGACAGACGGT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-33	c.73+ others(52): Show c.73+106733_73+106765delCGTGTGTGACCAGGACAGACGGTGCC TCCACTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014735	GAGACCAG others(26): Show GAGACCAGGACAGACGATGCCTCCACTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-33	c.73+ others(52): Show c.73+106770_73+106802delAGACCAGGACAGACGATGCCTCCACT GTGTGTA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1016904	CGCCTCCA others(26): Show CGCCTCCACTGTGTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	-33	c.73+ others(52): Show c.73+108955_73+108987delTGACCAGGACAGACGATGCCTCCACT GTGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1016967	ATGCCTCC others(26): Show ATGCCTCCACTGTGTGTGTGACCAGGACAGACGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	-33	c.73+ others(52): Show c.73+109002_73+109034delTGCCTCCACTGTGTGTGTGACCAGGA CAGACGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1017422	CGCCTCCA others(26): Show CGCCTCCACTGTGTGTATGACCAGGACAGACGGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-33	c.73+ others(52): Show c.73+109472_73+109504delATGACCAGGACAGACGGTGCCTCCAC TGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1117126	TTTGGAAA others(26): Show TTTGGAAAACCCAACACCGTCTCTTTGACCTGTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp1 HG01496.hp1 others(2): Show HG01071.hp2 HG01361.hp1 HG01496.hp1 HG03710.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 a0001c0002 a0002c0001 a0002c0004	a0001c0002t0006 a0001c0002t0010 a0002c0001t0001 others(2): Show a0001c0002t0006 a0001c0002t0010 a0002c0001t0001 a0002c0001t0011 a0002c0004t0003	a0001c0002t0006g0011 a0001c0002t0010g0008 a0002c0001t0001g0018 others(2): Show a0001c0002t0006g0011 a0001c0002t0010g0008 a0002c0001t0001g0018 a0002c0001t0011g0001 a0002c0004t0003g0009	5	40	0.1250	-33	c.74- others(52): Show c.74-141703_74-141671delCTTTGACCTGTCTTGGAAAACCCAAC ACCGTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1695548	AGGGCACA others(26): Show AGGGCACAGCCATGCCCGGCCCTACAGAAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20300.hp2 HG02258.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0006 a0001c0002t0006 a0001c0003t0006	a0001c0002t0006g0011 a0001c0003t0006g0033 a0001c0002t0006g0011 a0001c0003t0006g0033	2	40	0.0500	-33	c.279 others(52): Show c.2797-1588_2797-1556delATGCCCGGCCCTACAGAAAGAGGGGG CACAGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMPK_chr19_45764717_45787490	45770204	CCAGCAGC others(26): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 HG03831.hp1 HG02071.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0108 a0001c0001t0018g0115 a0001c0001t0018g0108 a0001c0001t0018g0115	2	416	0.0048	-33	c.25 others(42): Show c.251_*283delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	251		chr19	TogoVar
DMRT1_chr9_836697_974090	954788	CGTGCCAC others(26): Show CGTGCCACCACGCCCAGATAATTTTTGTATTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0192 a0001c0007t0004g0192	1	306	0.0033	-33	c.968 others(52): Show c.968-13196_968-13164delGTGCCACCACGCCCAGATAATTTTTG TATTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	4/4			chr9	TogoVar
DMRTC2_chr19_41840042_41857333	41843045	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG01981.hp1 others(2): Show HG01928.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	402	0.0124	-33	c.-20 others(44): Show c.-2060_-2028delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	DMRTC2	ENSG00000142025.16	transcript	ENST00000269945.8	protein_coding		1996		chr19	TogoVar
DMXL2_chr15_51442791_51627771	51512462	ATTTTTAG others(26): Show ATTTTTAGAAACGCATATGGAAGTGAAACAACAC	A A	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	346	0.0029	-33	c.264 others(52): Show c.2644+1947_2644+1979delGTGTTGTTTCACTTCCATATGCGTTT CTAAAAA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	15/43			chr15	TogoVar
DNAAF3_chr19_55153665_55171613	55169970	TCTGTTGC others(26): Show TCTGTTGCCTAGGCTGGAGTACTCCAGCCTGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	398	0.0025	-33	c.-34 others(44): Show c.-3485_-3453delTTTCAGGCTGGAGTACTCCAGCCTAGGCAACAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3358		chr19	TogoVar

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