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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DGKI_chr7_137376037_137851974	137517214	AAAAGAAA others(20): Show AAAAGAAAAGAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02886.hp2 others(2): Show HG02055.hp1 HG02647.hp2 HG02886.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0002 a0001c0002t0025 a0001c0004t0011 others(1): Show a0001c0002t0002 a0001c0002t0025 a0001c0004t0011 a0001c0008t0015	a0001c0002t0002g0027 a0001c0002t0025g0021 a0001c0004t0011g0071 others(2): Show a0001c0002t0002g0027 a0001c0002t0025g0021 a0001c0004t0011g0071 a0001c0004t0011g0085 a0001c0008t0015g0022	5	94	0.0532	-27	c.224 others(46): Show c.2248+4625_2248+4651delCTTTCTTTCTTTCTTTTTCTTTTCTT T		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	21/32						chr7	TogoVar
DHFR_chr5_80621226_80659983	80654887	GCTGCAGC others(20): Show GCTGCAGCGGCCGCAGCGGCCGCAGCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(61): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18957.hp2 NA18995.hp1 NA19043.hp1 NA19067.hp2 NA19079.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050	a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0022 others(43): Show a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0022 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0006g0005 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0008g0176 a0001c0001t0008g0200 a0001c0001t0008g0201 a0001c0001t0008g0202 a0001c0001t0048g0186 a0001c0001t0049g0187 a0001c0001t0050g0167	64	376	0.1702	-27	c.-42 others(36): Show c.-425_-399delGCGCTGCGGCCGCTGCGGCCGCTGCAG		DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	1/6				399		chr5	TogoVar
DHRS12_chr13_51762993_51809163	51774223	GTACATGT others(20): Show GTACATGTATTCTCCTACAGTATTCTCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01106.hp1 others(26): Show HG00735.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG03453.hp2 HG04184.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0010t0003	a0001c0001t0003g0259 a0002c0002t0001g0193 a0002c0002t0003g0002 others(21): Show a0001c0001t0003g0259 a0002c0002t0001g0193 a0002c0002t0003g0002 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0073 a0002c0002t0003g0080 a0002c0002t0003g0141 a0002c0002t0003g0154 a0002c0002t0003g0159 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0189 a0002c0002t0003g0207 a0002c0002t0003g0209 a0002c0002t0003g0228 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0003g0249 a0002c0002t0003g0252 a0002c0002t0003g0320 a0002c0010t0003g0253	29	420	0.0691	-27	c.364 others(42): Show c.364-216_364-190delGGAGAATACTGTAGGAGAATACATGTA		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51774835	TGTATTCT others(20): Show TGTATTCTCCTACATGTATTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02922.hp1 others(1): Show HG02486.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0247 a0002c0002t0003g0017 a0002c0002t0003g0190 a0002c0002t0003g0247	4	420	0.0095	-27	c.364 others(42): Show c.364-828_364-802delTGTAGGAGAATACATGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775019	AGTATTCT others(20): Show AGTATTCTCCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18982.hp1 NA19062.hp1 others(1): Show NA18950.hp2 NA18982.hp1 NA19062.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0121	4	420	0.0095	-27	c.364 others(43): Show c.364-1012_364-986delATGTAGGAGAATACTGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775294	AGTATTCT others(20): Show AGTATTCTCCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02074.hp2 NA19009.hp2 others(1): Show HG02015.hp2 HG02074.hp2 NA19009.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0285 a0001c0001t0002g0305 others(1): Show a0001c0001t0002g0020 a0001c0001t0002g0285 a0001c0001t0002g0305 a0001c0001t0002g0307	4	420	0.0095	-27	c.364 others(44): Show c.364-1287_364-1261delATGTAGGAGAATACTGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775307	AGTATTCT others(20): Show AGTATTCTCCTACATGTATTCTCCTACA	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	420	0.0024	-27	c.364 others(44): Show c.364-1300_364-1274delTGTAGGAGAATACATGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775660	TGTATTCT others(20): Show TGTATTCTCCTACATGTATTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0063 a0002c0002t0006g0063	1	420	0.0024	-27	c.363 others(44): Show c.363+1373_363+1399delTGTAGGAGAATACATGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRSX_chrX_2214506_2505976	2315796	TGCTCTTC others(20): Show TGCTCTTCCAGGCATGCTGAATTGGGAG	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	50	0.0200	-27	c.287 others(46): Show c.287-24220_287-24194delCTCCCAATTCAGCATGCCTGGAAGAG C		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2397954	ATAGATAC others(20): Show ATAGATACATATGCCAACAGGCTGATCT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02922.hp1 HG02074.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0006 a0001c0001t0012g0027 a0001c0001t0001g0006 a0001c0001t0012g0027	2	50	0.0400	-27	c.286 others(46): Show c.286+10764_286+10790delAGATCAGCCTGTTGGCATATGTATCT A		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DHX36_chr3_154267546_154329487	154310803	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0318 a0001c0001t0003g0318	1	366	0.0027	-27	c.642 others(42): Show c.642+806_642+832delATATATATATATATATATATATATTTT		DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24						chr3	TogoVar
DIP2A_chr21_46453891_46575015	46525863	CATTATTA others(20): Show CATTATTATTATTATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03098.hp1 NA18522.hp2 HG01167.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0150 a0001c0006t0014g0174 a0001c0006t0014g0175 a0001c0006t0014g0150 a0001c0006t0014g0174 a0001c0006t0014g0175	3	374	0.0080	-27	c.110 others(46): Show c.1103-3195_1103-3169delATTATTATTATTATTATTATTATTAT T		DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37					INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0107 a0002c0005t0006g0107	1	284	0.0035	-27	c.101 others(46): Show c.101-46330_101-46304delTATATATATATATATATATATATATA T		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37						chr12	TogoVar
DIP2C_chr10_269201_694668	337022	TGTGTGTG others(20): Show TGTGTGTGTGTTGTGGAGGCCTAGACTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	88	0.0114	-27	c.358 others(46): Show c.3584+4150_3584+4176delCAGTCTAGGCCTCCACAACACACACA C		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36						chr10	TogoVar
DIP2C_chr10_269201_694668	358720	CGGGGGTG others(20): Show CGGGGGTGGGAGGTGGGGGACGGGGGAT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	88	0.0114	-27	c.279 others(44): Show c.2795-810_2795-784delATCCCCCGTCCCCCACCTCCCACCCCC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36						chr10	TogoVar
DIP2C_chr10_269201_694668	528359	ACCCAGAA others(20): Show ACCCAGAACGCAGACCGCCCGCAGCTCC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01081.hp2 others(33): Show HG00597.hp2 HG00673.hp2 HG01081.hp2 HG01099.hp2 HG01258.hp1 HG01515.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02602.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03942.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0015 a0001c0019 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0008t0001 a0001c0010t0002 a0001c0015t0002 a0001c0019t0006 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 others(33): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0003g0012 a0001c0001t0003g0075 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0002t0001g0080 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0082 a0001c0003t0002g0021 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0005t0001g0009 a0001c0005t0002g0010 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0087 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0010t0002g0001 a0001c0015t0002g0083 a0001c0019t0006g0014 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	36	88	0.4091	-27	c.86- others(44): Show c.86-41856_86-41830delGGAGCTGCGGGCGGTCTGCGTTCTGGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DISP1_chr1_222810039_223010995	222936712	ATATATCA others(20): Show ATATATCATATATATGATATATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18963.hp1 NA19068.hp1 HG02135.hp1 NA18963.hp1 NA19068.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0034 a0001c0005t0001g0035 a0001c0005t0001g0037 a0001c0005t0001g0034 a0001c0005t0001g0035 a0001c0005t0001g0037	3	348	0.0086	-27	c.-17 others(44): Show c.-17-6089_-17-6063delCATATATATGATATATAAAAATTATAT		DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936835	ATATATAT others(20): Show ATATATATCATATATATGATATATAATT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00642.hp1 others(68): Show HG00408.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02735.hp1 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp2 HG04115.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0007 others(6): Show a0001 a0002 a0007 a0011 a0022 a0023 a0024 a0025 a0026	a0001c0005 a0001c0006 a0002c0003 others(10): Show a0001c0005 a0001c0006 a0002c0003 a0002c0004 a0002c0009 a0002c0019 a0007c0012 a0011c0018 a0022c0030 a0023c0033 a0024c0031 a0025c0032 a0026c0029	a0001c0005t0001 a0001c0006t0001 a0002c0003t0001 others(11): Show a0001c0005t0001 a0001c0006t0001 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0002c0009t0002 a0002c0019t0002 a0007c0012t0001 a0011c0018t0001 a0022c0030t0001 a0023c0033t0001 a0024c0031t0001 a0025c0032t0001 a0026c0029t0001	a0001c0005t0001g0026 a0001c0006t0001g0301 a0002c0003t0001g0010 others(67): Show a0001c0005t0001g0026 a0001c0006t0001g0301 a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0021 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0039 a0002c0003t0001g0058 a0002c0003t0001g0060 a0002c0003t0001g0093 a0002c0003t0001g0213 a0002c0003t0001g0235 a0002c0003t0001g0254 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0310 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0319 a0002c0003t0001g0326 a0002c0003t0001g0338 a0002c0003t0001g0339 a0002c0004t0001g0014 a0002c0004t0001g0022 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0038 a0002c0004t0001g0041 a0002c0004t0001g0046 a0002c0004t0001g0052 a0002c0004t0001g0061 a0002c0004t0001g0063 a0002c0004t0001g0086 a0002c0004t0001g0160 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0253 a0002c0004t0001g0325 a0002c0004t0001g0327 a0002c0004t0001g0328 a0002c0004t0001g0329 a0002c0004t0001g0337 a0002c0004t0001g0341 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0009t0001g0019 a0002c0009t0001g0033 a0002c0009t0001g0055 a0002c0009t0001g0281 a0002c0009t0001g0315 a0002c0009t0001g0335 a0002c0009t0001g0336 a0002c0009t0002g0016 a0002c0019t0002g0015 a0002c0019t0002g0017 a0007c0012t0001g0029 a0007c0012t0001g0049 a0007c0012t0001g0053 a0007c0012t0001g0311 a0007c0012t0001g0323 a0011c0018t0001g0001 a0022c0030t0001g0013 a0023c0033t0001g0036 a0024c0031t0001g0062 a0025c0032t0001g0011 a0026c0029t0001g0044	71	348	0.2040	-27	c.-17 others(44): Show c.-17-5947_-17-5921delATTTATATATCATATATATGATATATA		DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
DLC1_chr8_13078361_13519851	13188821	ATATATGT others(20): Show ATATATGTATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG01884.hp1 HG02965.hp1	a0002 a0006 a0002 a0006	a0002c0006 a0006c0007 a0002c0006 a0006c0007	a0002c0006t0007 a0006c0007t0017 a0002c0006t0007 a0006c0007t0017	a0002c0006t0007g0201 a0006c0007t0017g0029 a0002c0006t0007g0201 a0006c0007t0017g0029	2	212	0.0094	-27	c.134 others(48): Show c.1349-73191_1349-73165delAAAAATATATATATATATATACAT ATA		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17						chr8	TogoVar
DLC1_chr8_13078361_13519851	13479840	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	212	0.0047	-27	c.102 others(48): Show c.1023+19182_1023+19208delCTTTTTCTCTTCTTCTTCTTCTTC TTC		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar
DLG1_chr3_197037560_197303612	197127440	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp2 HG01516.hp1 HG01192.hp1 HG01358.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0082	3	332	0.0090	-27	c.116 others(46): Show c.1165+3060_1165+3086delATATATATATTTTTTTTTTTTTTTTT T		DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24						chr3	TogoVar
DLG1_chr3_197037560_197303612	197302156	ATATCTAT others(20): Show ATATCTATCTATCTATCTATCATCTATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	332	0.0030	-27	c.-36 others(38): Show c.-3679_-3653delGATAGATGATAGATAGATAGATAGATA		DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding					3545		chr3	TogoVar
DLG2_chr11_83450173_85632344	84493110	GTGTCCAT others(20): Show GTGTCCATCAGCTTGGGGACATGGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	14	0.0714	-27	c.519 others(46): Show c.519+41433_519+41459delTACACCATGTCCCCAAGCTGATGGAC A		DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27						chr11	TogoVar
DLGAP2_chr8_732628_1713476	759065	ATTATCAA others(20): Show ATTATCAATACCCCCCACAGCCTTCCTG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	-27	c.18+ others(44): Show c.18+21255_18+21281delCACAGCCTTCCTGTTATCAATACCCCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	848415	CTGTTCCA others(20): Show CTGTTCCAGTGTAGGGTCGTGCGGTGCG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG02922.hp1 HG01496.hp2 HG01891.hp2 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0014 a0003c0005t0002 a0003c0005t0004 a0001c0003t0014 a0003c0005t0002 a0003c0005t0004	a0001c0003t0014g0020 a0003c0005t0002g0031 a0003c0005t0004g0037 a0001c0003t0014g0020 a0003c0005t0002g0031 a0003c0005t0004g0037	3	40	0.0750	-27	c.19- others(44): Show c.19-59131_19-59105delGTCGTGCGGTGCGTGTTCCAGTGTAGG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1234988	ATCGTGTC others(20): Show ATCGTGTCTAGTTCTCTCACACATAGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01071.hp1 others(23): Show HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03710.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0014 a0001c0003t0017 a0001c0009t0012 a0001c0010t0025 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0003c0005t0004	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0006g0011 others(23): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0010t0025g0012 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0003c0005t0004g0037	26	40	0.6500	-27	c.74- others(44): Show c.74-23861_74-23835delCGTGTCTAGTTCTCTCACACATAGCGT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1235227	GCATGTCT others(20): Show GCATGTCTAGTTCTCTCACACATGGCGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG02922.hp1 others(6): Show HG01891.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03486.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0022 a0001c0003t0013 others(6): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0013 a0001c0003t0024 a0002c0001t0002 a0002c0001t0005 a0002c0007t0008 a0003c0005t0002 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0013g0007 others(6): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0013g0007 a0001c0003t0024g0003 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0007t0008g0040 a0003c0005t0002g0031 a0004c0008t0016g0029	9	40	0.2250	-27	c.74- others(44): Show c.74-23622_74-23596delATGTCTAGTTCTCTCACACATGGCGTC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1235937	CACATGGC others(20): Show CACATGGCGCCGTGTCTAGTTACGTCTT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-27	c.74- others(44): Show c.74-22907_74-22881delCGCCGTGTCTAGTTACGTCTTACATGG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36310209	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0016 a0002c0003t0002g0016	1	144	0.0069	-27	c.-30 others(46): Show c.-304+3700_-304+3726delGAAAGAAAGAAAGAAAGAAAGAAAGA A		DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36320135	CCTCTCCC others(20): Show CCTCTCCCAGGCCCCCCTCTGTGTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp2 HG02809.hp1 HG02922.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0011 a0007c0007t0029 a0001c0001t0011 a0007c0007t0029	a0001c0001t0011g0007 a0007c0007t0029g0050 a0001c0001t0011g0007 a0007c0007t0029g0050	2	144	0.0139	-27	c.-30 others(48): Show c.-304+13646_-304+13672delTCTTTCTCTCCCAGGCCCCCCTCT GTG		DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36380592	AAAGAGAG others(20): Show AAAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0021 a0003c0004t0006g0021	1	144	0.0069	-27	c.-73 others(46): Show c.-73+13319_-73+13345delAGAGAGAGAGAGAGAGAGAGAGAGAG A		DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DMAC2L_chr14_50307324_50332957	50327103	AGATCATT others(20): Show AGATCATTTGAGCCCAGGAGTTCAGGAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG01934.hp2 HG01993.hp1 others(48): Show HG00423.hp2 HG01934.hp2 HG01993.hp1 HG02074.hp1 HG02080.hp1 HG02165.hp1 HG02280.hp1 HG02300.hp1 HG03669.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18946.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18962.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19067.hp1 NA19075.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 others(3): Show a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 a0002c0002t0020 a0002c0002t0030 a0002c0002t0031	a0002c0002t0003g0003 a0002c0002t0003g0009 a0002c0002t0003g0018 others(11): Show a0002c0002t0003g0003 a0002c0002t0003g0009 a0002c0002t0003g0018 a0002c0002t0003g0034 a0002c0002t0003g0072 a0002c0002t0008g0003 a0002c0002t0008g0009 a0002c0002t0008g0018 a0002c0002t0008g0075 a0002c0002t0015g0003 a0002c0002t0015g0076 a0002c0002t0020g0035 a0002c0002t0030g0003 a0002c0002t0031g0074	51	400	0.1275	-27	c.13 others(38): Show c.1383_*1409delTCATTTGAGCCCAGGAGTTCAGGACGA		DMAC2L	ENSG00000125375.18	transcript	ENST00000557421.7	protein_coding	6/6				1383	INFO_REALIGN_3_PRIME	chr14	TogoVar
DMD_chrX_31114222_33216549	31196819	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0011 a0011	a0011c0060 a0011c0060	a0011c0060t0003 a0011c0060t0003	a0011c0060t0003g0072 a0011c0060t0003g0072	1	126	0.0079	-27	c.980 others(46): Show c.9807+7115_9807+7141delTTTTTTTTTTTTTTTTTTTTTTTTTT T		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	67/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32280161	TACAGTAT others(20): Show TACAGTATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18994.hp1 HG01943.hp1 NA18994.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0001 a0005c0007t0001 a0001c0002t0001 a0005c0007t0001	a0001c0002t0001g0088 a0005c0007t0001g0079 a0001c0002t0001g0088 a0005c0007t0001g0079	2	126	0.0159	-27	c.629 others(46): Show c.6290+7341_6290+7367delGTATATATATATATATATATATACTG T		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32480438	TGTGTGTA others(20): Show TGTGTGTACATACACAGTATGTGTCTAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02976.hp2 others(2): Show HG02647.hp1 HG02723.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1	a0002 a0005 a0032 a0002 a0005 a0032	a0002c0005 a0002c0020 a0002c0026 others(2): Show a0002c0005 a0002c0020 a0002c0026 a0005c0057 a0032c0036	a0002c0005t0007 a0002c0020t0028 a0002c0026t0006 others(2): Show a0002c0005t0007 a0002c0020t0028 a0002c0026t0006 a0005c0057t0001 a0032c0036t0004	a0002c0005t0007g0092 a0002c0020t0028g0010 a0002c0026t0006g0111 others(2): Show a0002c0005t0007g0092 a0002c0020t0028g0010 a0002c0026t0006g0111 a0005c0057t0001g0109 a0032c0036t0004g0011	5	126	0.0397	-27	c.280 others(46): Show c.2803+4454_2803+4480delGTAGACACATACTGTGTATGTACACA C		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78						chrX	TogoVar
DMKN_chr19_35492220_35518649	35511492	GCCACTGC others(20): Show GCCACTGCTGCTGCCACTGCTGCTGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18747.hp1 NA18747.hp1	a0038 a0038	a0038c0031 a0038c0031	a0038c0031t0001 a0038c0031t0001	a0038c0031t0001g0119 a0038c0031t0001g0119	1	442	0.0023	-27	c.810 others(34): Show c.810_836delTGGCAGCAGCAGTGGCAGCAGCAGTGG	p.Gly others(13): Show p.Gly271_Gly279del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1010/1924	810/1431	270/476			chr19	TogoVar
DMPK_chr19_45764717_45787490	45770204	CCAGCAGC others(20): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01069.hp2 others(67): Show HG00438.hp2 HG00558.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03239.hp2 HG03471.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19064.hp1 NA19065.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0003c0006 a0005c0008	a0001c0001t0004 a0001c0001t0013 a0002c0002t0004 others(4): Show a0001c0001t0004 a0001c0001t0013 a0002c0002t0004 a0002c0002t0023 a0002c0012t0004 a0003c0006t0004 a0005c0008t0004	a0001c0001t0004g0061 a0001c0001t0004g0068 a0001c0001t0004g0092 others(21): Show a0001c0001t0004g0061 a0001c0001t0004g0068 a0001c0001t0004g0092 a0001c0001t0013g0021 a0001c0001t0013g0073 a0001c0001t0013g0077 a0002c0002t0004g0003 a0002c0002t0004g0007 a0002c0002t0004g0009 a0002c0002t0004g0038 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0095 a0002c0002t0004g0097 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0100 a0002c0002t0004g0101 a0002c0002t0023g0096 a0002c0012t0004g0089 a0003c0006t0004g0023 a0005c0008t0004g0037	70	416	0.1683	-27	c.25 others(36): Show c.257_*283delCTGCTGCTGCTGCTGCTGCTGCTGCTG		DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15				257		chr19	TogoVar
DMRT1_chr9_836697_974090	911470	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00738.hp2 others(43): Show HG00140.hp2 HG00597.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0002c0005 a0003c0004 a0003c0008 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0003t0002 a0001c0003t0009 a0001c0006t0002 a0001c0007t0004 a0002c0002t0003 a0002c0002t0005 a0002c0005t0005 a0003c0004t0001 a0003c0004t0013 a0003c0008t0001 a0004c0012t0001	a0001c0001t0001g0109 a0001c0001t0001g0150 a0001c0001t0001g0166 others(43): Show a0001c0001t0001g0109 a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0240 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0131 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0215 a0001c0001t0002g0270 a0001c0001t0004g0065 a0001c0001t0004g0100 a0001c0001t0004g0117 a0001c0001t0004g0151 a0001c0001t0004g0177 a0001c0001t0004g0184 a0001c0001t0004g0236 a0001c0001t0007g0237 a0001c0001t0007g0245 a0001c0001t0009g0210 a0001c0001t0010g0194 a0001c0001t0017g0005 a0001c0003t0002g0212 a0001c0003t0009g0084 a0001c0006t0002g0253 a0001c0007t0004g0192 a0002c0002t0003g0018 a0002c0002t0003g0059 a0002c0002t0005g0027 a0002c0005t0005g0021 a0003c0004t0001g0004 a0003c0004t0001g0123 a0003c0004t0001g0187 a0003c0004t0013g0073 a0003c0008t0001g0295 a0004c0012t0001g0163	46	306	0.1503	-27	c.823 others(44): Show c.823-5278_823-5252delTTTTTTTTTTTTTTTTTTTTTTTTTTT		DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
DMTN_chr8_22051814_22087525	22086788	CCCGCGGG others(20): Show CCCGCGGGGCAGCGCTCGGGACCTGAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02970.hp2 others(2): Show HG02109.hp1 HG02280.hp1 HG02970.hp2 HG03098.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0010 a0002c0002t0006g0047 a0002c0002t0006g0048 others(1): Show a0002c0002t0006g0010 a0002c0002t0006g0047 a0002c0002t0006g0048 a0002c0002t0006g0049	5	324	0.0154	-27	c.53 others(38): Show c.5326_*5352delCCGCGGGGCAGCGCTCGGGACCTGAAG		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding					4264		chr8	TogoVar
DNAAF4_chr15_55425308_55513234	55447833	GGGGAGAG others(20): Show GGGGAGAGGGGAGAGGGCAGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0017 a0003c0003t0001g0017	1	338	0.0030	-27	c.783 others(44): Show c.783+2362_783+2388delTCTCCCCTCTGCCCTCTCCCCTCTCCC		DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9						chr15	TogoVar
DNAH10_chr12_123757301_123940714	123911888	GGGGGGAC others(20): Show GGGGGGACTGTCCCGGGGGGTCTGTCCC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0135 a0002c0004t0002g0135	1	170	0.0059	-27	c.101 others(48): Show c.10135-1204_10135-1178delACTGTCCCGGGGGGTCTGTCCCGG GGG		DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78					INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH17_chr17_78418697_78582396	78434390	AAGCTGGG others(20): Show AAGCTGGGCTGTCATGGCTGAGTACGAT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0111 a0111	a0111c0164 a0111c0164	a0111c0164t0003 a0111c0164t0003	a0111c0164t0003g0247 a0111c0164t0003g0247	1	252	0.0040	-27	c.120 others(46): Show c.12034-197_12034-171delATCGTACTCAGCCATGACAGCCCAGC T		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	74/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78437354	ATCTACCA others(20): Show ATCTACCAGCCCTCATTTGCAGGTTCAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0039 a0039	a0039c0121 a0039c0121	a0039c0121t0001 a0039c0121t0001	a0039c0121t0001g0036 a0039c0121t0001g0036	1	252	0.0040	-27	c.120 others(46): Show c.12033+260_12033+286delATGAACCTGCAAATGAGGGCTGGTAG A		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	74/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78478689	TTATTACC others(20): Show TTATTACCATCATTACCATCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02895.hp2 others(4): Show HG02572.hp1 HG02717.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp1	a0003 a0011 a0095 others(2): Show a0003 a0011 a0095 a0130 a0139	a0003c0006 a0011c0007 a0095c0088 others(2): Show a0003c0006 a0011c0007 a0095c0088 a0130c0160 a0139c0196	a0003c0006t0001 a0011c0007t0002 a0095c0088t0002 others(2): Show a0003c0006t0001 a0011c0007t0002 a0095c0088t0002 a0130c0160t0002 a0139c0196t0001	a0003c0006t0001g0148 a0003c0006t0001g0149 a0011c0007t0002g0045 others(4): Show a0003c0006t0001g0148 a0003c0006t0001g0149 a0011c0007t0002g0045 a0011c0007t0002g0130 a0095c0088t0002g0099 a0130c0160t0002g0115 a0139c0196t0001g0129	7	252	0.0278	-27	c.799 others(44): Show c.7992+309_7992+335delGTGGTGGTGATGGTAATGATGGTAATA		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80						chr17	TogoVar
DNAH8_chr6_38710311_39035792	38715255	ACTGCGGA others(20): Show ACTGCGGAGCCCTCGCCCCCGAGCGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA19077.hp1 NA18942.hp1 NA19077.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0213 a0006c0023t0001g0218 a0006c0023t0001g0213 a0006c0023t0001g0218	2	284	0.0070	-27	c.-19 others(36): Show c.-194_-168delCTGCGGAGCCCTCGCCCCCGAGCGAGC		DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding					55		chr6	TogoVar
DNAJB6_chr7_157332004_157422439	157369753	TTAACATT others(20): Show TTAACATTATTATTAAACAGGCCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	372	0.0027	-27	c.346 others(44): Show c.346+2288_346+2314delAGGCCTTTCATAACATTATTATTAAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC11_chr1_6629170_6706816	6654277	GGTCCGCA others(20): Show GGTCCGCATGTCTGCAGAGCAATGACAC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp2 HG02735.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0323 a0002c0003t0003g0347 a0002c0003t0003g0323 a0002c0003t0003g0347	2	366	0.0055	-27	c.379 others(42): Show c.379-265_379-239delGTGTCATTGCTCTGCAGACATGCGGAC		DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding	4/15						chr1	TogoVar
DNAJC13_chr3_132412502_132544032	132417181	AGGCACAC others(20): Show AGGCACACGCCGGAGGGGCGTGGTCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0066 a0001c0018t0001g0066	1	318	0.0031	-27	c.-59 others(36): Show c.-592_-566delGGCACACGCCGGAGGGGCGTGGTCATG		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding					320		chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132417187	ACGCCGGA others(20): Show ACGCCGGAGGGGCGTGGTCATGGGCACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00621.hp1 others(141): Show HG00323.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG02004.hp1 HG02056.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18966.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19082.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0010 a0012 a0013 a0016	a0001c0001 a0001c0019 a0002c0002 others(8): Show a0001c0001 a0001c0019 a0002c0002 a0002c0006 a0002c0012 a0003c0004 a0004c0005 a0010c0014 a0012c0020 a0013c0017 a0016c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0019t0001 a0002c0002t0001 a0002c0002t0003 a0002c0006t0001 a0002c0012t0001 a0003c0004t0002 a0004c0005t0001 a0010c0014t0002 a0012c0020t0001 a0013c0017t0002 a0016c0022t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0116 others(137): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0166 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0005g0006 a0001c0001t0005g0270 a0001c0001t0007g0150 a0001c0001t0009g0307 a0001c0001t0010g0187 a0001c0019t0001g0148 a0002c0002t0001g0124 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0198 a0002c0002t0001g0203 a0002c0002t0001g0285 a0002c0002t0003g0125 a0002c0006t0001g0165 a0002c0012t0001g0195 a0002c0012t0001g0196 a0003c0004t0002g0172 a0003c0004t0002g0173 a0003c0004t0002g0184 a0003c0004t0002g0185 a0003c0004t0002g0190 a0004c0005t0001g0142 a0010c0014t0002g0171 a0012c0020t0001g0145 a0013c0017t0002g0164 a0016c0022t0001g0216	144	318	0.4528	-27	c.-58 others(36): Show c.-586_-560delCGCCGGAGGGGCGTGGTCATGGGCACC		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding					314		chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132543233	AGCTATGC others(20): Show AGCTATGCATAAGTTCAGGAAAGTCATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	318	0.0031	-27	c.49 others(38): Show c.4952_*4978delGCTATGCATAAGTTCAGGAAAGTCATT		DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding					4202		chr3	TogoVar

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Search Results (Total: 3848 hits)