Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DIP2A_chr21_46453891_46575015	46528527	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0089 a0001c0004t0002g0089	1	374	0.0027	-23	c.110 others(40): Show c.1103-546_1103-524delTTTTTTTTTTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG00741.hp2 others(67): Show HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02615.hp1 HG02735.hp2 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18956.hp1 NA18961.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18987.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19089.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0021 a0001c0029 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0002c0019 a0008c0044	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 others(13): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0019 a0001c0003t0024 a0001c0005t0020 a0001c0005t0027 a0001c0010t0003 a0001c0021t0001 a0001c0029t0001 a0001c0041t0003 a0001c0042t0003 a0001c0043t0003 a0001c0045t0003 a0002c0019t0006 a0008c0044t0003	a0001c0001t0002g0096 a0001c0003t0001g0333 a0001c0003t0003g0124 others(67): Show a0001c0001t0002g0096 a0001c0003t0001g0333 a0001c0003t0003g0124 a0001c0003t0003g0290 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0300 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0315 a0001c0003t0003g0316 a0001c0003t0003g0323 a0001c0003t0003g0326 a0001c0003t0003g0327 a0001c0003t0003g0328 a0001c0003t0003g0329 a0001c0003t0003g0330 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0334 a0001c0003t0003g0336 a0001c0003t0003g0337 a0001c0003t0003g0338 a0001c0003t0003g0340 a0001c0003t0003g0341 a0001c0003t0003g0344 a0001c0003t0003g0346 a0001c0003t0003g0348 a0001c0003t0003g0349 a0001c0003t0003g0350 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0359 a0001c0003t0003g0360 a0001c0003t0003g0361 a0001c0003t0003g0362 a0001c0003t0003g0363 a0001c0003t0003g0364 a0001c0003t0003g0371 a0001c0003t0003g0372 a0001c0003t0019g0301 a0001c0003t0024g0307 a0001c0005t0020g0273 a0001c0005t0020g0281 a0001c0005t0027g0282 a0001c0010t0003g0299 a0001c0010t0003g0317 a0001c0021t0001g0122 a0001c0021t0001g0123 a0001c0029t0001g0208 a0001c0041t0003g0289 a0001c0042t0003g0325 a0001c0043t0003g0373 a0001c0045t0003g0321 a0002c0019t0006g0193 a0008c0044t0003g0324	70	374	0.1872	-23	c.60 others(34): Show c.6024_*6046delAAAAAAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA19007.hp1 HG00733.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0123 a0001c0002t0003g0126 a0001c0001t0001g0123 a0001c0002t0003g0126	2	284	0.0070	-23	c.101 others(42): Show c.101-46331_101-46309delATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50664830	GTTTTTGT others(16): Show GTTTTTGTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0049	1	284	0.0035	-23	c.427 others(40): Show c.427+4517_427+4539delGTTTTTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	429206	TCCCCCCG others(16): Show TCCCCCCGGACCCTGGCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	88	0.0114	-23	c.395 others(40): Show c.395-6196_395-6174delGGAGGCAGCCAGGGTCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	499308	GTGTGGAC others(16): Show GTGTGGACGGCTGGGCTCCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-23	c.86- others(40): Show c.86-12801_86-12779delGAGGGGGAGCCCAGCCGTCCACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	540980	GTGGGGAG others(16): Show GTGGGGAGCCACAACACCCGATGC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp2 others(29): Show HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG03579.hp1 HG03942.hp1 NA18747.hp1 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA19007.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0017 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0003 a0001c0006t0002 a0001c0007t0007 a0001c0009t0001 a0001c0009t0003 a0001c0011t0003 a0001c0017t0002 a0001c0023t0003	a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0050 others(29): Show a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0002t0001g0031 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0003t0002g0032 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0006t0002g0058 a0001c0007t0007g0060 a0001c0009t0001g0007 a0001c0009t0003g0003 a0001c0011t0003g0088 a0001c0017t0002g0064 a0001c0023t0003g0071	32	88	0.3636	-23	c.86- others(40): Show c.86-54473_86-54451delGCATCGGGTGTTGTGGCTCCCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	559962	ACCTCTCC others(16): Show ACCTCTCCCCCCCACTCCTGTTCT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	88	0.0114	-23	c.86- others(40): Show c.86-73455_86-73433delAGAACAGGAGTGGGGGGGAGAGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	568776	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	88	0.0114	-23	c.86- others(40): Show c.86-82269_86-82247delGTTTTTTTTTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	685162	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01258.hp1 HG01952.hp2 others(4): Show HG01099.hp2 HG01258.hp1 HG01952.hp2 HG02165.hp2 NA18747.hp2 NA18962.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0003t0002 a0001c0004t0001 a0001c0008t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0003g0012 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0003g0012 a0001c0001t0010g0020 a0001c0003t0002g0021 a0001c0004t0001g0086 a0001c0008t0001g0019	7	88	0.0796	-23	c.85+ others(38): Show c.85+4309_85+4331delATATATATATATATATATATATA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L_chr15_66288568_66338898	66289188	AAAGCTGT others(16): Show AAAGCTGTCACAGCATTCTTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	400	0.0025	-23	c.-44 others(34): Show c.-4408_-4386delAAGCTGTCACAGCATTCTTCTGT	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding		4379		chr15	TogoVar
DLAT_chr11_112020408_112069404	112027893	AGAGAGGG others(16): Show AGAGAGGGAGAGGGAGACCGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp2 HG01081.hp1 HG02630.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0013 a0003c0003t0004 a0001c0001t0013 a0003c0003t0004	a0001c0001t0013g0046 a0003c0003t0004g0023 a0001c0001t0013g0046 a0003c0003t0004g0023	2	336	0.0060	-23	c.382 others(38): Show c.382-604_382-582delCGTGGGGAGAGGGAGAGGGAGAC	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DLG1_chr3_197037560_197303612	197066565	CATGTAGT others(16): Show CATGTAGTAAATTTCTACATGTAT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	332	0.0030	-23	c.209 others(40): Show c.2098+116_2098+138delATACATGTAGAAATTTACTACAT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	20/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127440	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG02273.hp2 others(6): Show HG01106.hp1 HG01433.hp1 HG02273.hp2 NA18942.hp1 NA18964.hp1 NA18978.hp1 NA19010.hp1 NA19086.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0017 a0001c0001 a0006c0017	a0001c0001t0001 a0001c0001t0011 a0006c0017t0001 a0001c0001t0001 a0001c0001t0011 a0006c0017t0001	a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0051 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0011g0001 a0006c0017t0001g0089	9	332	0.0271	-23	c.116 others(42): Show c.1165+3064_1165+3086delATATATTTTTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127442	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	332	0.0030	-23	c.116 others(42): Show c.1165+3062_1165+3084delATATATATTTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127448	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	332	0.0030	-23	c.116 others(42): Show c.1165+3056_1165+3078delATATATATATATATTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197302156	ATATCTAT others(16): Show ATATCTATCTATCTATCTATCATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02559.hp1 others(3): Show HG01891.hp2 HG02280.hp1 HG02559.hp1 HG02965.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0233 a0001c0001t0003g0249 a0001c0001t0004g0255 others(3): Show a0001c0001t0003g0233 a0001c0001t0003g0249 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0294	6	332	0.0181	-23	c.-36 others(34): Show c.-3675_-3653delGATGATAGATAGATAGATAGATA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		3545		chr3	TogoVar
DLG2_chr11_83450173_85632344	85465073	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp2 HG01884.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0014 a0001c0001t0011g0013 a0001c0001t0010g0014 a0001c0001t0011g0013	2	14	0.1429	-23	c.40+ others(42): Show c.40+133561_40+133583delTTTTTTTTTTTTTTTTTTTTTTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	3/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	85582660	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 NA18522.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0009 a0001c0001t0002 a0001c0001t0010 a0001c0002t0009	a0001c0001t0002g0001 a0001c0001t0010g0014 a0001c0002t0009g0002 a0001c0001t0002g0001 a0001c0001t0010g0014 a0001c0002t0009g0002	3	14	0.2143	-23	c.40+ others(40): Show c.40+15974_40+15996delTTTTTTTTTTTTTTTTTTTTTTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	3/27			chr11	TogoVar
DLG5_chr10_77785791_77931755	77801048	TCGGAGCC others(16): Show TCGGAGCCCTGAAAATCCCCTAAA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0255 a0001c0002t0002g0255	1	331	0.0030	-23	c.516 others(42): Show c.5165-4477_5165-4455delTTTAGGGGATTTTCAGGGCTCCG	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	27/31			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3672595	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAGTTAATGAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG03209.hp2 others(6): Show HG02257.hp2 HG02258.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0038 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0038 a0001c0001t0042 a0001c0002t0007 a0001c0002t0030 a0001c0003t0010 a0001c0003t0023 a0001c0004t0014	a0001c0001t0002g0017 a0001c0001t0003g0068 a0001c0001t0038g0075 others(6): Show a0001c0001t0002g0017 a0001c0001t0003g0068 a0001c0001t0038g0075 a0001c0001t0042g0080 a0001c0002t0007g0022 a0001c0002t0030g0014 a0001c0003t0010g0040 a0001c0003t0023g0015 a0001c0004t0014g0058	9	80	0.1125	-23	c.159 others(44): Show c.1591+56517_1591+56539delCTCATTAACTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP4_chr20_36301339_36533633	36396542	CACACACA others(16): Show CACACACACCACAGACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0060 a0001c0001t0010g0060	1	144	0.0069	-23	c.-73 others(42): Show c.-73+29280_-73+29302delGACACACACATACACACACCACA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLL3_chr19_39493947_39513469	39510557	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(106): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG03041.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp2 NA20752.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0011 a0001c0018 others(2): Show a0001c0001 a0001c0011 a0001c0018 a0003c0003 a0010c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0011t0001 a0001c0018t0001 a0003c0003t0001 a0010c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0003g0107 a0001c0001t0004g0009 a0001c0011t0001g0006 a0001c0018t0001g0009 a0003c0003t0001g0070 a0010c0017t0001g0103	109	428	0.2547	-23	c.23 others(34): Show c.2301_*2323delTTTTTTTTTTTTTTTTTTTTTTT	DLL3	ENSG00000090932.11	transcript	ENST00000356433.10	protein_coding		2089		chr19	TogoVar
DMD_chrX_31114222_33216549	31648617	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	126	0.0079	-23	c.802 others(42): Show c.8027+9350_8027+9372delTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	54/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32280144	GTATATAT others(16): Show GTATATATATATATATATACAGTA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0023 a0002c0009t0010g0023	1	126	0.0079	-23	c.629 others(42): Show c.6290+7362_6290+7384delTACTGTATATATATATATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32452293	GAAAAGGA others(16): Show GAAAAGGAAAGGGAAAGTGAAAGT	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0060 a0002c0016t0001g0060	1	126	0.0079	-23	c.360 others(42): Show c.3603+2346_3603+2368delACTTTCACTTTCCCTTTCCTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32452421	GGGAAAGG others(16): Show GGGAAAGGGAAAGGGAAAGGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19066.hp1 HG00609.hp1 NA19066.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0052 a0007c0019t0001g0061 a0007c0019t0001g0052 a0007c0019t0001g0061	2	126	0.0159	-23	c.360 others(42): Show c.3603+2218_3603+2240delTTTCCCTTTCCCTTTCCCTTTCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32529379	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG00642.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0064 a0004c0004t0001g0083 a0004c0004t0001g0064 a0004c0004t0001g0083	2	126	0.0159	-23	c.216 others(44): Show c.2169-11271_2169-11249delAAAAAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	17/78			chrX	TogoVar
DMP1_chr4_87645280_87669357	87661204	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 NA19030.hp1 others(1): Show HG02280.hp1 HG03195.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0039 a0001c0002t0008g0068 a0001c0002t0008g0143 a0001c0002t0008g0039 a0001c0002t0008g0068 a0001c0002t0008g0143	4	430	0.0093	-23	c.184 others(38): Show c.184-744_184-722delTTTTTTTTTTTTTTTTTTTTTTT	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
DMPK_chr19_45764717_45787490	45770205	CAGCAGCA others(16): Show CAGCAGCAGCAGCAGCAGCAGCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0106 a0001c0001t0035g0106	1	416	0.0024	-23	c.26 others(32): Show c.260_*282delCTGCTGCTGCTGCTGCTGCTGCT	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	260		chr19	TogoVar
DMRT1_chr9_836697_974090	930298	CTCCTTGG others(16): Show CTCCTTGGCTCAAGTCATCTGAAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01167.hp2 others(8): Show HG00738.hp1 HG01070.hp1 HG01167.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02258.hp1 HG02965.hp2 HG03130.hp1 HG03540.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0004 others(1): Show a0001c0001 a0002c0005 a0003c0004 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0002c0005t0005 a0003c0004t0001 a0003c0008t0001	a0001c0001t0001g0296 a0001c0001t0004g0130 a0001c0001t0004g0236 others(8): Show a0001c0001t0001g0296 a0001c0001t0004g0130 a0001c0001t0004g0236 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0008g0095 a0001c0001t0012g0146 a0001c0001t0012g0190 a0002c0005t0005g0023 a0003c0004t0001g0122 a0003c0008t0001g0195	11	306	0.0360	-23	c.967 others(42): Show c.967+13406_967+13428delCATCTGAATTCCTTGGCTCAAGT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRTC2_chr19_41840042_41857333	41843055	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-23	c.-20 others(34): Show c.-2050_-2028delAAAAAAAAAAAAAAAAAAAAAAC	DMRTC2	ENSG00000142025.16	transcript	ENST00000269945.8	protein_coding		1986		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55158131	AGCTCCTC others(16): Show AGCTCCTCTTCCCTCAGACCCAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0083 a0003c0002t0001g0083	1	398	0.0025	-23	c.90 others(32): Show c.908_*930delCTTGGGTCTGAGGGAAGAGGAGC	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		533		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55483833	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02970.hp1 others(2): Show HG02451.hp1 HG02615.hp1 HG02970.hp1 HG03195.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0209 a0002c0002t0004g0210 a0002c0002t0004g0291 others(2): Show a0002c0002t0004g0209 a0002c0002t0004g0210 a0002c0002t0004g0291 a0002c0002t0004g0292 a0002c0002t0004g0294	5	338	0.0148	-23	c.405 others(40): Show c.405+7267_405+7289delAAAAAAAAAAAAAAAAAAAAAAA	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	4/9			chr15	TogoVar
DNAAF9_chr20_3244306_3412669	3394949	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(118): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18989.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0001c0003 a0002c0005 others(4): Show a0001c0001 a0001c0003 a0002c0005 a0003c0016 a0004c0015 a0006c0014 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0037 a0001c0003t0013 a0002c0005t0003 a0002c0005t0010 a0002c0005t0028 a0002c0005t0032 a0003c0016t0001 a0004c0015t0003 a0006c0014t0001 a0009c0017t0003	a0001c0001t0001g0062 a0001c0001t0001g0205 a0001c0001t0001g0207 others(118): Show a0001c0001t0001g0062 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0347 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0204 a0001c0001t0003g0276 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0307 a0001c0001t0003g0318 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0011g0215 a0001c0001t0011g0216 a0001c0001t0011g0217 a0001c0001t0011g0219 a0001c0001t0037g0206 a0001c0003t0013g0360 a0001c0003t0013g0361 a0001c0003t0013g0362 a0002c0005t0003g0070 a0002c0005t0003g0071 a0002c0005t0003g0281 a0002c0005t0003g0282 a0002c0005t0003g0287 a0002c0005t0003g0304 a0002c0005t0010g0289 a0002c0005t0010g0290 a0002c0005t0010g0291 a0002c0005t0028g0283 a0002c0005t0032g0277 a0003c0016t0001g0236 a0004c0015t0003g0284 a0006c0014t0001g0265 a0009c0017t0003g0228	121	362	0.3343	-23	c.84- others(40): Show c.84-12466_84-12444delAAAAAAAAAAAAAAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	1/36			chr20	TogoVar
DNAH12_chr3_57288700_57549344	57385976	CTCAGAGT others(16): Show CTCAGAGTATTCCTGATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0187 a0014c0014t0001g0187	1	266	0.0038	-23	c.760 others(40): Show c.7602+442_7602+464delATAATATATCAGGAATACTCTGA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	47/73			chr3	TogoVar
DNAH14_chr1_224924675_225404286	225326458	AGGTATGG others(16): Show AGGTATGGGGCCAGGTTAGGCAAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01258.hp2 HG01891.hp2 others(13): Show HG01106.hp1 HG01258.hp2 HG01891.hp2 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02723.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp1	a0008 a0014 a0015 others(3): Show a0008 a0014 a0015 a0020 a0057 a0066	a0008c0007 a0014c0013 a0015c0012 others(4): Show a0008c0007 a0014c0013 a0015c0012 a0020c0019 a0020c0037 a0057c0060 a0066c0053	a0008c0007t0001 a0014c0013t0001 a0015c0012t0001 others(4): Show a0008c0007t0001 a0014c0013t0001 a0015c0012t0001 a0020c0019t0001 a0020c0037t0001 a0057c0060t0001 a0066c0053t0001	a0008c0007t0001g0003 a0008c0007t0001g0010 a0008c0007t0001g0011 others(13): Show a0008c0007t0001g0003 a0008c0007t0001g0010 a0008c0007t0001g0011 a0008c0007t0001g0014 a0008c0007t0001g0017 a0014c0013t0001g0226 a0014c0013t0001g0227 a0014c0013t0001g0228 a0015c0012t0001g0002 a0015c0012t0001g0013 a0015c0012t0001g0015 a0020c0019t0001g0101 a0020c0019t0001g0102 a0020c0037t0001g0104 a0057c0060t0001g0225 a0066c0053t0001g0007	16	240	0.0667	-23	c.972 others(42): Show c.9723+1628_9723+1650delGTATGGGGCCAGGTTAGGCAATG	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	64/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78554436	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG01884.hp2 others(6): Show HG01106.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02559.hp2 HG02615.hp1 HG02976.hp1 HG03516.hp1 NA18906.hp2	a0002 a0005 a0019 others(6): Show a0002 a0005 a0019 a0036 a0037 a0044 a0136 a0140 a0150	a0002c0050 a0005c0053 a0019c0049 others(6): Show a0002c0050 a0005c0053 a0019c0049 a0036c0203 a0037c0204 a0044c0037 a0136c0193 a0140c0225 a0150c0231	a0002c0050t0002 a0005c0053t0001 a0019c0049t0002 others(6): Show a0002c0050t0002 a0005c0053t0001 a0019c0049t0002 a0036c0203t0001 a0037c0204t0002 a0044c0037t0002 a0136c0193t0008 a0140c0225t0001 a0150c0231t0001	a0002c0050t0002g0004 a0005c0053t0001g0176 a0019c0049t0002g0144 others(6): Show a0002c0050t0002g0004 a0005c0053t0001g0176 a0019c0049t0002g0144 a0036c0203t0001g0146 a0037c0204t0002g0147 a0044c0037t0002g0101 a0136c0193t0008g0108 a0140c0225t0001g0006 a0150c0231t0001g0136	9	252	0.0357	-23	c.217 others(42): Show c.2179-1654_2179-1632delTTTTTTTTTTTTTTTTTTTTTTT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	14/80			chr17	TogoVar
DNAH3_chr16_20928111_21155846	20957808	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00609.hp2 others(55): Show HG00099.hp1 HG00438.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02486.hp1 HG02630.hp2 HG02683.hp2 HG02976.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18962.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19090.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(15): Show a0001 a0002 a0004 a0006 a0010 a0011 a0013 a0018 a0021 a0022 a0024 a0025 a0026 a0046 a0047 a0048 a0051 a0054	a0001c0026 a0002c0004 a0002c0006 others(24): Show a0001c0026 a0002c0004 a0002c0006 a0002c0025 a0002c0089 a0004c0007 a0004c0027 a0004c0028 a0004c0081 a0004c0097 a0004c0098 a0006c0008 a0006c0042 a0010c0020 a0011c0015 a0013c0017 a0018c0029 a0021c0041 a0022c0044 a0024c0045 a0025c0046 a0026c0049 a0046c0072 a0047c0080 a0048c0062 a0051c0088 a0054c0101	a0001c0026t0002 a0002c0004t0001 a0002c0004t0002 others(27): Show a0001c0026t0002 a0002c0004t0001 a0002c0004t0002 a0002c0006t0001 a0002c0025t0001 a0002c0089t0001 a0004c0007t0001 a0004c0007t0002 a0004c0027t0001 a0004c0028t0001 a0004c0081t0001 a0004c0097t0001 a0004c0098t0001 a0006c0008t0001 a0006c0008t0003 a0006c0042t0001 a0010c0020t0001 a0011c0015t0001 a0013c0017t0001 a0018c0029t0001 a0021c0041t0001 a0022c0044t0001 a0024c0045t0001 a0025c0046t0001 a0026c0049t0001 a0046c0072t0001 a0047c0080t0001 a0048c0062t0001 a0051c0088t0001 a0054c0101t0001	a0001c0026t0002g0003 a0002c0004t0001g0022 a0002c0004t0001g0028 others(55): Show a0001c0026t0002g0003 a0002c0004t0001g0022 a0002c0004t0001g0028 a0002c0004t0001g0032 a0002c0004t0001g0124 a0002c0004t0001g0166 a0002c0004t0001g0174 a0002c0004t0001g0194 a0002c0004t0001g0197 a0002c0004t0001g0216 a0002c0004t0002g0016 a0002c0006t0001g0063 a0002c0006t0001g0064 a0002c0006t0001g0065 a0002c0006t0001g0066 a0002c0006t0001g0068 a0002c0006t0001g0071 a0002c0006t0001g0113 a0002c0025t0001g0021 a0002c0025t0001g0152 a0002c0089t0001g0165 a0004c0007t0001g0167 a0004c0007t0001g0169 a0004c0007t0001g0170 a0004c0007t0001g0175 a0004c0007t0001g0218 a0004c0007t0001g0232 a0004c0007t0002g0015 a0004c0027t0001g0188 a0004c0027t0001g0206 a0004c0028t0001g0221 a0004c0028t0001g0226 a0004c0081t0001g0219 a0004c0097t0001g0059 a0004c0098t0001g0061 a0006c0008t0001g0088 a0006c0008t0001g0090 a0006c0008t0001g0102 a0006c0008t0001g0107 a0006c0008t0003g0001 a0006c0042t0001g0084 a0010c0020t0001g0141 a0011c0015t0001g0095 a0011c0015t0001g0100 a0011c0015t0001g0105 a0013c0017t0001g0051 a0018c0029t0001g0162 a0018c0029t0001g0213 a0021c0041t0001g0080 a0022c0044t0001g0109 a0024c0045t0001g0104 a0025c0046t0001g0087 a0026c0049t0001g0082 a0046c0072t0001g0200 a0047c0080t0001g0204 a0048c0062t0001g0173 a0051c0088t0001g0187 a0054c0101t0001g0058	58	234	0.2479	-23	c.106 others(44): Show c.10688+1348_10688+1370delTTTTTTTTTTTTTTTTTTTTTTT	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	54/61			chr16	TogoVar
DNAH7_chr2_195732703_196073837	195875395	CCAGAAGG others(16): Show CCAGAAGGTGGGAGAAAAAAGTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG03486.hp2 others(4): Show HG02809.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA21309.hp2	a0012 a0021 a0048 a0012 a0021 a0048	a0012c0011 a0021c0071 a0048c0027 a0012c0011 a0021c0071 a0048c0027	a0012c0011t0003 a0021c0071t0003 a0048c0027t0001 a0012c0011t0003 a0021c0071t0003 a0048c0027t0001	a0012c0011t0003g0024 a0012c0011t0003g0025 a0012c0011t0003g0026 others(4): Show a0012c0011t0003g0024 a0012c0011t0003g0025 a0012c0011t0003g0026 a0012c0011t0003g0027 a0012c0011t0003g0029 a0021c0071t0003g0090 a0048c0027t0001g0023	7	256	0.0273	-23	c.628 others(40): Show c.6286+257_6286+279delAAACTTTTTTCTCCCACCTTCTG	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	38/64			chr2	TogoVar
DNAH8_chr6_38710311_39035792	38972391	GCTAGTCA others(16): Show GCTAGTCATTAATTCTCAAATGCC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0001 a0003c0047t0001	a0003c0047t0001g0236 a0003c0047t0001g0236	1	284	0.0035	-23	c.125 others(42): Show c.12525+730_12525+752delGTCATTAATTCTCAAATGCCCTA	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	83/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH9_chr17_11593470_11974748	11694837	TTTCCTTC others(16): Show TTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02976.hp2 HG03195.hp1 others(2): Show HG02040.hp2 HG02976.hp2 HG03195.hp1 NA18969.hp1 NA18969.hp2	a0001 a0002 a0013 others(2): Show a0001 a0002 a0013 a0014 a0055	a0001c0014 a0002c0005 a0013c0058 others(2): Show a0001c0014 a0002c0005 a0013c0058 a0014c0074 a0055c0073	a0001c0014t0001 a0002c0005t0001 a0013c0058t0001 others(2): Show a0001c0014t0001 a0002c0005t0001 a0013c0058t0001 a0014c0074t0001 a0055c0073t0001	a0001c0014t0001g0096 a0002c0005t0001g0077 a0013c0058t0001g0157 others(2): Show a0001c0014t0001g0096 a0002c0005t0001g0077 a0013c0058t0001g0157 a0014c0074t0001g0084 a0055c0073t0001g0016	5	178	0.0281	-23	c.487 others(40): Show c.4872+391_4872+413delTTCCTTCCTTCCTTCCTTCCTTC	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DNAH9_chr17_11593470_11974748	11812007	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0018 a0018	a0018c0149 a0018c0149	a0018c0149t0001 a0018c0149t0001	a0018c0149t0001g0011 a0018c0149t0001g0011	1	178	0.0056	-23	c.870 others(42): Show c.8707+1640_8707+1662delAAAAAAAAAAAAAAAAAAATATA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	45/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11812009	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0001 a0017c0021t0001	a0017c0021t0001g0003 a0017c0021t0001g0003	1	178	0.0056	-23	c.870 others(42): Show c.8707+1642_8707+1664delAAAAAAAAAAAAAAAAATATATA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	45/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11812011	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02622.hp1 HG03041.hp2 others(5): Show HG02071.hp2 HG02622.hp1 HG03041.hp2 HG03195.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1	a0001 a0005 a0017 others(4): Show a0001 a0005 a0017 a0030 a0033 a0061 a0072	a0001c0001 a0001c0003 a0005c0004 others(5): Show a0001c0001 a0001c0003 a0005c0004 a0017c0086 a0030c0039 a0033c0064 a0061c0115 a0072c0088	a0001c0001t0001 a0001c0003t0001 a0005c0004t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0005c0004t0001 a0017c0086t0001 a0030c0039t0001 a0033c0064t0001 a0061c0115t0001 a0072c0088t0001	a0001c0001t0001g0032 a0001c0003t0001g0087 a0005c0004t0001g0092 others(5): Show a0001c0001t0001g0032 a0001c0003t0001g0087 a0005c0004t0001g0092 a0017c0086t0001g0097 a0030c0039t0001g0017 a0033c0064t0001g0060 a0061c0115t0001g0079 a0072c0088t0001g0165	8	178	0.0449	-23	c.870 others(42): Show c.8707+1644_8707+1666delAAAAAAAAAAAAAAATATATATA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	45/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAJC12_chr10_67791669_67843188	67839880	TCGTGCCA others(16): Show TCGTGCCACTGGACTCCAGCCTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0313 a0001c0002t0002g0313	1	384	0.0026	-23	c.-18 others(34): Show c.-1892_-1870delCCAGGCTGGAGTCCAGTGGCACG	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding		1693		chr10	TogoVar
DNAJC15_chr13_43018586_43119213	43101994	GGAATCTA others(16): Show GGAATCTACATACTATTTTCCGTA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	352	0.0028	-23	c.383 others(40): Show c.383-5182_383-5160delAATCTACATACTATTTTCCGTAG	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC1_chr10_21751548_22008730	21789038	TGCTCTGA others(16): Show TGCTCTGAGCACCCGCACCTGGAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02486.hp2 others(13): Show HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0002c0007t0002 a0001c0001t0001 a0001c0001t0004 a0002c0007t0002	a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0004g0001 a0002c0007t0002g0161	16	164	0.0976	-23	c.109 others(44): Show c.1098+16919_1098+16941delTTCCAGGTGCGGGTGCTCAGAGC	DNAJC1	ENSG00000136770.11	transcript	ENST00000376980.8	protein_coding	9/11			chr10	TogoVar
DNASE1L2_chr16_2231444_2243711	2242777	GGCAGGAA others(16): Show GGCAGGAAGGAGCCTCCCTGGAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01993.hp1 others(12): Show HG01069.hp2 HG01071.hp1 HG01993.hp1 HG02109.hp2 HG02257.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	15	414	0.0362	-23	c.43 others(34): Show c.4360_*4382delGCAGGAAGGAGCCTCCCTGGAAC	DNASE1L2	ENSG00000167968.13	transcript	ENST00000320700.10	protein_coding		4067		chr16	TogoVar
DNASE2B_chr1_84393484_84420018	84411424	GGGTGTGT others(16): Show GGGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	426	0.0024	-23	c.547 others(38): Show c.547+427_547+449delGTGTGTGTGTGTGTGTGTGTGTG	DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 4709 hits)