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
DLGAP2_chr8_732628_1713476	1043192	T T	TGGTGGAT others(29): Show TGGTGGATGCGGGTGGTGGGTGTGGGTGGTGGGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG01071.hp2 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0011 a0002c0004t0026 a0002c0001t0011 a0002c0004t0026	a0002c0001t0011g0001 a0002c0004t0026g0016 a0002c0001t0011g0001 a0002c0004t0026g0016	2	40	0.0500	36	c.73+ others(55): Show c.73+135231_73+135232insATGCGGGTGGTGGGTGTGGGTGGTGG GTGTGGGTGG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1507816	C C	CACCCTCC others(29): Show CACCCTCCCCCCACCCACCACCCTCCCCCCACCCACG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	36	c.172 others(53): Show c.172+6393_172+6394insCCCACCCACCACCCTCCCCCCACCCACG ACCCTCCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1683834	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	36	c.270 others(55): Show c.2704+5228_2704+5229insATATATATATATATATATATATATAT ATATATATAT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1683856	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02895.hp2 HG00639.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0007 a0001c0010 a0002c0007	a0001c0010t0025 a0002c0007t0008 a0001c0010t0025 a0002c0007t0008	a0001c0010t0025g0012 a0002c0007t0008g0040 a0001c0010t0025g0012 a0002c0007t0008g0040	2	40	0.0500	36	c.270 others(55): Show c.2704+5228_2704+5229insATATATATATATATATATATATATAT ATATATGTGT		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp2 HG01168.hp2 others(19): Show HG00140.hp2 HG01071.hp2 HG01168.hp2 HG01891.hp2 HG01952.hp1 HG02258.hp2 HG02698.hp1 HG02723.hp1 HG02896.hp1 HG02976.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp1 HG03669.hp2 HG04204.hp1 NA18747.hp1 NA18946.hp2 NA18992.hp2 NA19007.hp2 NA19011.hp1 NA19074.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0059 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0241 a0001c0001t0002g0248 a0001c0001t0005g0253 a0001c0001t0008g0016 a0001c0002t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0068 a0001c0003t0001g0137	22	266	0.0827	36	c.-51 others(51): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TATATA		DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11						chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02451.hp2 HG01361.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0226 a0001c0001t0001g0056 a0001c0001t0001g0226	2	266	0.0075	36	c.-51 others(51): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TATAAA		DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11						chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTTTTTAT others(29): Show TTTTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	266	0.0038	36	c.-51 others(51): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TAAAAA		DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11						chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501192	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG01884.hp2 others(2): Show HG00733.hp1 HG01256.hp1 HG01884.hp2 HG02055.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0024 a0001c0002t0040 a0001c0002t0004 a0001c0002t0024 a0001c0002t0040	a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0004g0111 others(2): Show a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0004g0111 a0001c0002t0024g0190 a0001c0002t0040g0187	5	430	0.0116	36	c.-12 others(53): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT		DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0143 a0001c0007t0003g0143	1	430	0.0023	36	c.-12 others(53): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCTT		DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03491.hp2 HG02886.hp1 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0119 a0001c0002t0004g0134 a0001c0002t0004g0119 a0001c0002t0004g0134	2	430	0.0047	36	c.-12 others(53): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCTTTCTT		DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00609.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0158 a0001c0002t0003g0155 a0001c0002t0003g0158	2	430	0.0047	36	c.-12 others(53): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTT		DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	324	0.0031	36	c.327 others(53): Show c.327-2548_327-2547insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13						chr22	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0060 a0002c0016t0001g0060	1	126	0.0079	36	c.922 others(57): Show c.9225-23577_9225-23542dupGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31293163	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02145.hp1 HG02451.hp2 others(2): Show HG01934.hp1 HG02145.hp1 HG02451.hp2 HG03942.hp1 NA19043.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0029	a0001c0001 a0002c0024 a0004c0004 others(2): Show a0001c0001 a0002c0024 a0004c0004 a0010c0031 a0029c0044	a0001c0001t0008 a0002c0024t0011 a0004c0004t0001 others(2): Show a0001c0001t0008 a0002c0024t0011 a0004c0004t0001 a0010c0031t0001 a0029c0044t0014	a0001c0001t0008g0021 a0002c0024t0011g0016 a0004c0004t0001g0087 others(2): Show a0001c0001t0008g0021 a0002c0024t0011g0016 a0004c0004t0001g0087 a0010c0031t0001g0096 a0029c0044t0014g0094	5	126	0.0397	36	c.922 others(57): Show c.9224+30434_9224+30435insACACACACACACACACACACACAC ACACACACACAC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31314742	C C	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0092 a0002c0005t0007g0092	1	126	0.0079	36	c.922 others(55): Show c.9224+8855_9224+8856insCTCTCTCTCTCTCTTTCTCTCTCTCT CTCTCTCTCT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31394938	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0087 a0004c0004t0001g0087	1	126	0.0079	36	c.908 others(57): Show c.9085-46305_9085-46304insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31425708	A A	ACACACAC others(29): Show ACACACACACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0028 a0002c0020t0028	a0002c0020t0028g0010 a0002c0020t0028g0010	1	126	0.0079	36	c.908 others(57): Show c.9084+18772_9084+18773insCGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(29): Show CTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0001 a0010c0031t0001	a0010c0031t0001g0096 a0010c0031t0001g0096	1	126	0.0079	36	c.821 others(57): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA TATATAGAGAGA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(29): Show CTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0035 a0035	a0035c0029 a0035c0029	a0035c0029t0001 a0035c0029t0001	a0035c0029t0001g0071 a0035c0029t0001g0071	1	126	0.0079	36	c.821 others(57): Show c.8218-14911_8218-14910insTATATATATATATATATATATATA TATAGAGAGAGA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31569599	C C	CATATATG others(29): Show CATATATGTATATACGTATATATACGTATATACGTAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01256.hp1 NA20905.hp1 HG00609.hp1 HG01256.hp1 NA20905.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0019 a0003c0003 a0007c0019	a0003c0003t0001 a0003c0003t0002 a0007c0019t0001 a0003c0003t0001 a0003c0003t0002 a0007c0019t0001	a0003c0003t0001g0027 a0003c0003t0002g0043 a0007c0019t0001g0052 a0003c0003t0001g0027 a0003c0003t0002g0043 a0007c0019t0001g0052	3	126	0.0238	36	c.821 others(57): Show c.8217+58038_8217+58073dupATACGTATATACGTATATATACGT ATATACATATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31569634	A A	ATATATAC others(29): Show ATATATACGTATATACGTATATATACGTATATACGTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	126	0.0079	36	c.821 others(57): Show c.8217+58038_8217+58039insGACGTATATACGTATATATACGTA TATACGTATATA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31569652	A A	ATATATAC others(29): Show ATATATACGTATATACGTATATATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	126	0.0079	36	c.821 others(57): Show c.8217+58020_8217+58021insCGTATATATACGTATATATACGTA TATACGTATATA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31569652	A A	ATATATAT others(29): Show ATATATATGTATATACATATATATACGTATATATACG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0025 a0025	a0025c0039 a0025c0039	a0025c0039t0003 a0025c0039t0003	a0025c0039t0003g0075 a0025c0039t0003g0075	1	126	0.0079	36	c.821 others(57): Show c.8217+58020_8217+58021insCGTATATATACGTATATATATGTA TATACATATATA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31569652	A A	ATATATAT others(29): Show ATATATATGTATATACGTATATATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01255.hp1 HG02015.hp1 others(12): Show HG00673.hp1 HG01255.hp1 HG02015.hp1 HG02071.hp1 HG02683.hp1 HG02738.hp1 HG03225.hp1 HG03579.hp1 NA18612.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18965.hp1 NA18970.hp1 NA19004.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0011 a0024 a0030 a0034 a0036	a0001c0002 a0002c0012 a0003c0014 others(7): Show a0001c0002 a0002c0012 a0003c0014 a0004c0011 a0007c0018 a0011c0060 a0024c0038 a0030c0037 a0034c0030 a0036c0021	a0001c0002t0001 a0002c0012t0002 a0003c0014t0010 others(7): Show a0001c0002t0001 a0002c0012t0002 a0003c0014t0010 a0004c0011t0001 a0007c0018t0001 a0011c0060t0003 a0024c0038t0001 a0030c0037t0005 a0034c0030t0003 a0036c0021t0017	a0001c0002t0001g0025 a0001c0002t0001g0051 a0001c0002t0001g0104 others(12): Show a0001c0002t0001g0025 a0001c0002t0001g0051 a0001c0002t0001g0104 a0001c0002t0001g0105 a0002c0012t0002g0098 a0002c0012t0002g0122 a0003c0014t0010g0015 a0004c0011t0001g0034 a0004c0011t0001g0085 a0007c0018t0001g0099 a0011c0060t0003g0072 a0024c0038t0001g0053 a0030c0037t0005g0082 a0034c0030t0003g0029 a0036c0021t0017g0009	15	126	0.1191	36	c.821 others(57): Show c.8217+58020_8217+58021insCGTATATATACGTATATATACGTA TATACATATATA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31951145	A A	ATATATGT others(29): Show ATATATGTGTATATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0002 a0002	a0002c0009 a0002c0020 a0002c0009 a0002c0020	a0002c0009t0010 a0002c0020t0030 a0002c0009t0010 a0002c0020t0030	a0002c0009t0010g0023 a0002c0020t0030g0125 a0002c0009t0010g0023 a0002c0020t0030g0125	2	126	0.0159	36	c.661 others(57): Show c.6614+17193_6614+17194insCATATATATATATACATATATATA TATACACATATA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78						chrX	TogoVar
DMD_chrX_31114222_33216549	31951147	A A	ATATATGT others(29): Show ATATATGTGTATATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0025 a0002c0052t0025	a0002c0052t0025g0095 a0002c0052t0025g0095	1	126	0.0079	36	c.661 others(57): Show c.6614+17191_6614+17192insCATATATATATATACATATATATA TATACACATATA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32033653	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0023 a0003c0008t0023	a0003c0008t0023g0005 a0003c0008t0023g0005	1	126	0.0079	36	c.643 others(57): Show c.6439-65140_6439-65139insTCTTTCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0022 a0009c0013t0022	a0009c0013t0022g0066 a0009c0013t0022g0066	1	126	0.0079	36	c.592 others(55): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32483146	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0006 a0022c0025t0006	a0022c0025t0006g0108 a0022c0025t0006g0108	1	126	0.0079	36	c.280 others(55): Show c.2803+1772_2803+1773insATATATATATATATATATATATATAT ATATATATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01255.hp1 others(3): Show HG00140.hp1 HG01074.hp1 HG01255.hp1 HG01433.hp1 HG01952.hp1 NA18944.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0026	a0001c0001 a0002c0005 a0002c0012 others(2): Show a0001c0001 a0002c0005 a0002c0012 a0004c0004 a0026c0042	a0001c0001t0001 a0002c0005t0001 a0002c0012t0002 others(2): Show a0001c0001t0001 a0002c0005t0001 a0002c0012t0002 a0004c0004t0001 a0026c0042t0024	a0001c0001t0001g0008 a0001c0001t0001g0018 a0002c0005t0001g0049 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0002c0005t0001g0049 a0002c0012t0002g0122 a0004c0004t0001g0041 a0026c0042t0024g0070	6	126	0.0476	36	c.280 others(55): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT ATATATATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0011 a0011	a0011c0060 a0011c0060	a0011c0060t0003 a0011c0060t0003	a0011c0060t0003g0072 a0011c0060t0003g0072	1	126	0.0079	36	c.160 others(57): Show c.1602+10057_1602+10058insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32815520	T T	TATATATA others(29): Show TATATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0092 a0002c0005t0007g0092	1	126	0.0079	36	c.530 others(51): Show c.530+947_530+948insGTGTGTGTGTGTGTGTATATATATATATAT ATATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	6/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33008848	G G	GTATACGT others(29): Show GTATACGTGTATATATACACATACTCATATATGTATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 NA20805.hp1 HG00140.hp1 HG01099.hp1 NA20805.hp1	a0001 a0008 a0015 a0001 a0008 a0015	a0001c0001 a0008c0010 a0015c0043 a0001c0001 a0008c0010 a0015c0043	a0001c0001t0001 a0008c0010t0001 a0015c0043t0001 a0001c0001t0001 a0008c0010t0001 a0015c0043t0001	a0001c0001t0001g0008 a0008c0010t0001g0044 a0015c0043t0001g0112 a0001c0001t0001g0008 a0008c0010t0001g0044 a0015c0043t0001g0112	3	126	0.0238	36	c.93+ others(53): Show c.93+11255_93+11290dupTATACATATATGAGTATGTGTATATATA CACGTATA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33008915	T T	TGTATATA others(29): Show TGTATATATACATGTATATATACACACGTATATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0055 a0004c0055	a0004c0055t0001 a0004c0055t0001	a0004c0055t0001g0007 a0004c0055t0001g0007	1	126	0.0079	36	c.93+ others(53): Show c.93+11188_93+11223dupGTATATATACGTGTGTATATATACATGT ATATATAC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33009707	T T	TATATGTG others(29): Show TATATGTGTATATGTGTGTATATGTGTATATACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02602.hp1 HG02922.hp1 others(1): Show HG01261.hp1 HG02602.hp1 HG02922.hp1 NA19012.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0009	a0001c0002 a0005c0007 a0006c0006 others(1): Show a0001c0002 a0005c0007 a0006c0006 a0009c0013	a0001c0002t0003 a0005c0007t0002 a0006c0006t0001 others(1): Show a0001c0002t0003 a0005c0007t0002 a0006c0006t0001 a0009c0013t0001	a0001c0002t0003g0113 a0005c0007t0002g0093 a0006c0006t0001g0001 others(1): Show a0001c0002t0003g0113 a0005c0007t0002g0093 a0006c0006t0001g0001 a0009c0013t0001g0017	4	126	0.0318	36	c.93+ others(53): Show c.93+10396_93+10431dupGTGTGTATATACACATATACACACATAT ACACATAT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
DMD_chrX_31114222_33216549	33163618	C C	CTCTATCT others(29): Show CTCTATCTATCTATCTATCTATCTATGTATCTATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02572.hp1 others(1): Show HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02976.hp1	a0002 a0003 a0018 others(1): Show a0002 a0003 a0018 a0027	a0002c0009 a0003c0003 a0018c0061 others(1): Show a0002c0009 a0003c0003 a0018c0061 a0027c0058	a0002c0009t0002 a0003c0003t0027 a0018c0061t0001 others(1): Show a0002c0009t0002 a0003c0003t0027 a0018c0061t0001 a0027c0058t0019	a0002c0009t0002g0002 a0003c0003t0027g0091 a0018c0061t0001g0003 others(1): Show a0002c0009t0002g0002 a0003c0003t0027g0091 a0018c0061t0001g0003 a0027c0058t0019g0116	4	126	0.0318	36	c.31+ others(53): Show c.31+47663_31+47664insTACATAGATACATAGATAGATAGATAGA TAGATAGA		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78						chrX	TogoVar
DMKN_chr19_35492220_35518649	35511479	C C	CACCACTG others(29): Show CACCACTGCTGCCACCACTGCTGCTGCCACAGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02559.hp1 HG02559.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0001 a0032c0045t0001	a0032c0045t0001g0229 a0032c0045t0001g0229	1	442	0.0023	36	c.849 others(43): Show c.849_850insAGCAGCTGTGGCAGCAGCAGTGGTGGCAGCAGTGGT	p.Gly others(49): Show p.Gly283_Gly284insSerSerCysGlySerSerSerGlyGlySerSe rGly	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1023/1924	849/1431	283/476			chr19	TogoVar
DMKN_chr19_35492220_35518649	35511491	C C	CGCCACTG others(29): Show CGCCACTGCTGCTGCCACTGCTGCTGCCACTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0042 a0042	a0042c0036 a0042c0036	a0042c0036t0001 a0042c0036t0001	a0042c0036t0001g0172 a0042c0036t0001g0172	1	442	0.0023	36	c.837 others(43): Show c.837_838insAGCAGCAGTGGCAGCAGCAGTGGCAGCAGCAGTGGC	p.Gly others(49): Show p.Gly279_Gly280insSerSerSerGlySerSerSerGlySerSerSe rGly	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1011/1924	837/1431	279/476			chr19	TogoVar
DMPK_chr19_45764717_45787490	45770204	C C	CCAGCAGC others(29): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0064 a0001c0001t0024g0064	1	416	0.0024	36	c.24 others(45): Show c.248_*283dupCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG		DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15				283		chr19	TogoVar
DMRT1_chr9_836697_974090	902244	A A	ACTGAAAA others(29): Show ACTGAAAACATTTCTTTTATGCATGTTCAGTTGCTAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01928.hp2 HG02056.hp2 others(7): Show HG00735.hp1 HG01928.hp2 HG02056.hp2 HG02074.hp1 HG02895.hp1 HG02897.hp1 HG03834.hp2 HG03927.hp2 NA18952.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0004g0181 others(7): Show a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0004g0181 a0001c0001t0004g0235 a0001c0001t0004g0272 a0002c0002t0003g0013 a0002c0002t0003g0033 a0002c0002t0003g0234 a0002c0002t0005g0034 a0002c0002t0011g0223	10	306	0.0327	36	c.822 others(53): Show c.822+8049_822+8050insCTGAAAACATTTCTTTTATGCATGTTCA GTTGCTAT		DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	3/4						chr9	TogoVar
DMRT3_chr9_971655_996732	980548	A A	AAAGCTAT others(29): Show AAAGCTATATATATAGCTTAAATTTAAATTCTAATTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01891.hp2 others(17): Show HG01109.hp1 HG01243.hp1 HG01891.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA18975.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0020 a0001c0001 a0002c0002 a0010c0020	a0001c0001t0006 a0002c0002t0004 a0002c0002t0008 others(2): Show a0001c0001t0006 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0010c0020t0006	a0001c0001t0006g0148 a0002c0002t0004g0010 a0002c0002t0004g0042 others(7): Show a0001c0001t0006g0148 a0002c0002t0004g0010 a0002c0002t0004g0042 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0157 a0002c0002t0004g0158 a0002c0002t0008g0010 a0002c0002t0012g0041 a0010c0020t0006g0145	20	458	0.0437	36	c.454 others(53): Show c.454+3105_454+3140dupATAGCTTAAATTTAAATTCTAATTTAAG CTATATAT		DMRT3	ENSG00000064218.5	transcript	ENST00000190165.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRTC1B_chrX_72771890_72853803	72776950	T T	TTCCTCCT others(29): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	26	0.0385	36	c.-37 others(45): Show c.-376_-341dupCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT		DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/7				68133	INFO_REALIGN_3_PRIME	chrX	TogoVar
DMRTC1B_chrX_72771890_72853803	72776950	T T	TTCTTCCT others(29): Show TTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0002 a0001c0001t0022g0002	1	26	0.0385	36	c.-39 others(45): Show c.-391_-390insTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC		DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/7				68183	INFO_REALIGN_3_PRIME	chrX	TogoVar
DMTN_chr8_22051814_22087525	22078377	A A	ATATATAT others(29): Show ATATATATATACATATATACATATATTCATATATATG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19085.hp1 NA18947.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0191 a0001c0001t0001g0192	2	324	0.0062	36	c.836 others(53): Show c.836-1795_836-1760dupATACATATATACATATATTCATATATAT GTATATAT		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01978.hp1 HG01981.hp2 others(1): Show HG00558.hp2 HG01978.hp1 HG01981.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0079 a0001c0002t0001g0096 a0002c0003t0001g0084 others(1): Show a0001c0002t0001g0079 a0001c0002t0001g0096 a0002c0003t0001g0084 a0002c0003t0001g0089	4	238	0.0168	36	c.668 others(55): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TATATATATA		DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43					INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0326 a0004c0005t0001g0326	1	346	0.0029	36	c.299 others(53): Show c.2992+499_2992+500insCACACACACACACACACACACACACACA CACACACA		DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43						chr15	TogoVar
DNAAF10_chr2_68124805_68162527	68130107	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0048 a0001c0001t0043g0048	1	432	0.0023	36	c.11 others(47): Show c.1130_*1131insATATATATATATATATATATATATATATATATAT AT		DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8				1130		chr2	TogoVar
DNAAF11_chr8_132565416_132680545	132674181	A A	AAGGAGGA others(29): Show AAGGAGGAGGAGGAGAAGGAGGAGAAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	276	0.0036	36	c.10+ others(51): Show c.10+1302_10+1303insCCTCCTCCTCCTTCTCCTCCTTCTCCTCCT CCTCCT		DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11						chr8	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(29): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03225.hp2 HG02615.hp2 HG03225.hp2	a0005 a0020 a0005 a0020	a0005c0009 a0020c0026 a0005c0009 a0020c0026	a0005c0009t0001 a0020c0026t0001 a0005c0009t0001 a0020c0026t0001	a0005c0009t0001g0041 a0020c0026t0001g0040 a0005c0009t0001g0041 a0020c0026t0001g0040	2	456	0.0044	36	c.125 others(51): Show c.125-410_125-409insCTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55155079	A A	AGGGTCTG others(29): Show AGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG03669.hp2 HG02683.hp2 HG03669.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0038 a0005c0008t0001g0038	2	398	0.0050	36	c.39 others(47): Show c.3947_*3982dupAGGAGTCCAGTCCCCAGCCCCTCCTCCCTCAGAC CC		DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding					3585		chr19	TogoVar

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Search Results (Total: 8848 hits)