Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYP4F3_chr19_15635897_15667825	15650816	T T	TTCTTTCT others(94): Show TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCAT CTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTCTCTCT TC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0352 a0001c0002t0001g0352	1	424	0.0024	101	c.918 others(116): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TCTCTCTTCTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650820	T T	TTCTTTCT others(94): Show TTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCATCTTT CTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT TC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01516.hp2 HG01517.hp1 HG00741.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0362 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0362	3	424	0.0071	101	c.918 others(116): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTTCTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH3_chr7_6156779_6277624	6259794	T T	TATAATAT others(94): Show TATAATATATATATATAATATATATATAATATATATATATATATAATATA TATAATATATATATAATATATATATTATATATATATATATAATATATATA TA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	348	0.0029	101	c.34+ others(118): Show c.34+12679_34+12680insTATATATATATTATATATATATATATAA TATATATATTATATATATATTATATATATTATATATATATATATATTATA TATATATTATATATATATATTAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259819	T T	TATATATA others(94): Show TATATATATTATATATATATAATATATATATATTATATATATATAATATA TATATATAATATATATATATTATATATATATAATATATATATATATAATA TA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0214 a0001c0001t0014g0214	1	348	0.0029	101	c.34+ others(118): Show c.34+12654_34+12655insTATATTATATATATATATATTATATATA TATAATATATATATATTATATATATATATTATATATATATAATATATATA TATTATATATATATAATATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241765955	G G	GTTGGGGA others(94): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGAGA AC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0140 a0002c0002t0005g0140	1	412	0.0024	101	c.130 others(120): Show c.1307-1660_1307-1659insGAGAACTTGGGGAGATGGGAGCCCCG GGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCG GGCTGAGGGAGTAGGAAGAGGGGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766074	C C	CGGGCTGA others(94): Show CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0045 a0005c0004t0045	a0005c0004t0045g0357 a0005c0004t0045g0357	1	412	0.0024	101	c.130 others(120): Show c.1307-1628_1307-1627insGGAGTAGGAAGAGGGGGGAGAAGTTG GGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTG GGGAGATGGGAGCCCCGGGGCTGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251163	A A	ATCCCCCA others(94): Show ATCCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACACCCCCA CACATCCCCCACACCCCCCACACATCCCCCACACCCCCCACATCCCCCAC AC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0109 a0002c0006t0006g0109	1	116	0.0086	101	c.207 others(120): Show c.2073+1479_2073+1480insTCCCCCACACCACACATCCCTCACAC CCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCCACACATCC CCCACACCCCCCACATCCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DEAF1_chr11_639233_700222	690331	G G	GAGGGGGA others(94): Show GAGGGGGAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGG GGAGGGCAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGG GC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	345	0.0029	101	c.387 others(118): Show c.387+1169_387+1170insGCCCTCCCCTGCCCTCCCCTCCCCTGCC CTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTCCCCTCCCCTGCCCTCCC CTGCCCTCCCCTCCCCTCCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DENND1B_chr1_197499748_197780480	197769028	C C	CTTATGTC others(94): Show CTTATGTCATGGGTTGGAGTTGAATGCCTGTGGTTTTTCCAGGAACAGGA TACAAGCTGCCAATGGATCTACCATTCTGGGGTCTGGAGGACAGAGACCA CA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	280	0.0036	101	c.82+ others(116): Show c.82+3839_82+3840insTGTGGTCTCTGTCCTCCAGACCCCAGAATG GTAGATCCATTGGCAGCTTGTATCCTGTTCCTGGAAAAACCACAGGCATT CAACTCCAACCCATGACATAA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	2/22			chr1	TogoVar
DENND4C_chr9_19225693_19379281	19365708	T T	TAGAACTG others(94): Show TAGAACTGCATATGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02148.hp1 NA18943.hp2 others(2): Show HG01496.hp2 HG02148.hp1 NA18943.hp2 NA18972.hp1 NA19087.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0020	a0001c0001 a0003c0004 a0009c0012 others(1): Show a0001c0001 a0003c0004 a0009c0012 a0020c0023	a0001c0001t0002 a0001c0001t0010 a0003c0004t0002 others(2): Show a0001c0001t0002 a0001c0001t0010 a0003c0004t0002 a0009c0012t0002 a0020c0023t0010	a0001c0001t0002g0055 a0001c0001t0010g0221 a0003c0004t0002g0042 others(2): Show a0001c0001t0002g0055 a0001c0001t0010g0221 a0003c0004t0002g0042 a0009c0012t0002g0038 a0020c0023t0010g0262	5	292	0.0171	101	c.552 others(120): Show c.5524+3756_5524+3757insTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAACTGCATA	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND6B_chr22_50304030_50332012	50316922	G G	GGGGGGGG others(94): Show GGGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGGGGGG GCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGCGGGGGGGGGG GC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	326	0.0031	101	c.453 others(116): Show c.453+370_453+371insGCCCCCCCCCCCGCCCTGTCCTCGTGGCCC CCCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTGTCCTCGCCGCCCCCCC GCCCTGTCCTCGCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316922	G G	GGGGGGGG others(94): Show GGGGGGGGGGGCGAGGACAGGGCGGGGGGGCGGCGAGGACAGGGCGGGGG GGCGGCGAGGACAGGGCAGGGGGGGGCCACGAGGACAGGGCGGGGGGGGG GC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	326	0.0031	101	c.453 others(116): Show c.453+370_453+371insGCCCCCCCCCCGCCCTGTCCTCGTGGCCCC CCCCTGCCCTGTCCTCGCCGCCCCCCCGCCCTGTCCTCGCCGCCCCCCCG CCCTGTCCTCGCCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316923	G G	GGGGGGGG others(94): Show GGGGGGGGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGGGGG GGGCCACGAGGACAGGGTGGGGGGGGGGGCGGCGAGGACAGGATGGGGGG CC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0270 a0001c0006t0014g0270	1	326	0.0031	101	c.453 others(116): Show c.453+369_453+370insGGCCCCCCATCCTGTCCTCGCCGCCCCCCC CCCCACCCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCC CGCCCTGTCCTCGCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50316923	G G	GGGGGGGG others(94): Show GGGGGGGGGGCGAGGACAGGGCGGGGGGGGCGGCGAGGACAGGGCAGGGG GGGGCCACGAGGACAGGGTGGGGGGGGGGCGGCGAGGACAGGATGGGGGG CC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0271 a0001c0006t0014g0271	1	326	0.0031	101	c.453 others(116): Show c.453+369_453+370insGGCCCCCCATCCTGTCCTCGCCGCCCCCCC CCCACCCTGTCCTCGTGGCCCCCCCCTGCCCTGTCCTCGCCGCCCCCCCC GCCCTGTCCTCGCCCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313647	G G	GCGCCTCC others(94): Show GCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	101	c.29 others(112): Show c.2906_*2907insGGAGGCGGGGCGGGGAGGCGGGGAGGCGGTGCGG GGAGGCGGGGAGGCGGTGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGC GGGGAGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		936		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313660	G G	GCGCCTCC others(94): Show GCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp1 others(11): Show HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01192.hp2 HG01258.hp2 HG01943.hp2 HG02056.hp1 HG02293.hp1 HG02818.hp1 HG03490.hp1 HG03492.hp1 HG04184.hp1 NA18956.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0022g0055	14	370	0.0378	101	c.28 others(112): Show c.2893_*2894insGGAGGCGGGGCGGGGAGGCGGGGAGGCGGTGCGG GGAGGCGGGGAGGCGGTGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGC GGGGAGGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		923		chr8	TogoVar
DGCR2_chr22_19031286_19127412	19075131	A A	ACAGTTGG others(94): Show ACAGTTGGGCTTACATTTTTAACCACTTACATTTTTCTGAACTCATTTTT AACCACTTACAGTTGGGCTTACATTTTTAACCACTTACATTTTTAACCAC TT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0110 a0002c0002t0039g0110	1	344	0.0029	101	c.203 others(118): Show c.203-6907_203-6906insAAGTGGTTAAAAATGTAAGTGGTTAAAA ATGTAAGCCCAACTGTAAGTGGTTAAAAATGAGTTCAGAAAAATGTAAGT GGTTAAAAATGTAAGCCCAACTG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9			chr22	TogoVar
DGKG_chr3_186142201_186367234	186355203	C C	CCAACACC others(94): Show CCAACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCTACCAC CAACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCTACCACC AA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01433.hp1 others(7): Show HG00738.hp2 HG01081.hp2 HG01433.hp1 HG02056.hp2 HG03490.hp2 HG03834.hp2 NA18964.hp2 NA19000.hp1 NA19003.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0005 a0001c0002 a0002c0001 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0002c0001t0002 a0002c0001t0005 a0002c0001t0036 a0002c0005t0002 a0002c0005t0006 a0002c0005t0010 a0002c0005t0033	a0001c0002t0001g0083 a0001c0002t0002g0004 a0001c0002t0006g0081 others(7): Show a0001c0002t0001g0083 a0001c0002t0002g0004 a0001c0002t0006g0081 a0002c0001t0002g0080 a0002c0001t0005g0082 a0002c0001t0036g0079 a0002c0005t0002g0115 a0002c0005t0006g0111 a0002c0005t0010g0192 a0002c0005t0033g0110	10	234	0.0427	101	c.-24 others(120): Show c.-249+6742_-249+6743insTTGGTGGTAGCGGTGATGGTAGTTGT GTGGGGAGTTGACGATAGTGGTGTTGGTGGTAGCGGTGATGGTAGTTGTG TGGGGAGTTGACGATAGTGGTGTTG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DHRSX_chrX_2214506_2505976	2447063	A A	ATGTGGCT others(94): Show ATGTGGCTAAGGGACCACCGCCCTGTACACAAACCGTGTACACACTGAAG ATATTCCATAAGAATGTGGCCAAGGAACAGCACTGAAGACGTTCCCTAAG CT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0034 a0005c0006t0004g0034	1	50	0.0200	101	c.110 others(120): Show c.110-21760_110-21759insAGCTTAGGGAACGTCTTCAGTGCTGT TCCTTGGCCACATTCTTATGGAATATCTTCAGTGTGTACACGGTTTGTGT ACAGGGCGGTGGTCCCTTAGCCACA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2447063	A A	ATGTGGCT others(94): Show ATGTGGCTAAGGGACCACCGCCCTGTACACAAACCGTGTACACACTGAAG ATATTCCCTAAGAATGTGGCCAAGGAACAGCACTGAAGACGTTCCCTAAG CT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG01934.hp1 others(5): Show HG00280.hp1 HG01496.hp2 HG01934.hp1 HG02004.hp1 HG02572.hp1 HG02922.hp1 HG03098.hp1 NA18522.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0004c0014 a0008c0010	a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 a0002c0002t0004 a0004c0004t0009 a0004c0014t0005 a0008c0010t0014	a0001c0001t0001g0029 a0001c0001t0012g0027 a0002c0002t0003g0008 others(5): Show a0001c0001t0001g0029 a0001c0001t0012g0027 a0002c0002t0003g0008 a0002c0002t0003g0050 a0002c0002t0004g0035 a0004c0004t0009g0032 a0004c0014t0005g0007 a0008c0010t0014g0046	8	50	0.1600	101	c.110 others(120): Show c.110-21860_110-21760dupAGCTTAGGGAACGTCTTCAGTGCTGT TCCTTGGCCACATTCTTAGGGAATATCTTCAGTGTGTACACGGTTTGTGT ACAGGGCGGTGGTCCCTTAGCCACA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIMT1_chr5_62382254_62408905	62402686	G G	GCCTGACA others(94): Show GCCTGACAAGATCCTTTAACTATGTAATGCTCTTTCTACAGCTCCAGGAT GCTTTCCTTGCTTTTAACCATAAGTGTAATCTGCACCGTGTGTATTTCAC TT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	404	0.0025	101	c.153 others(116): Show c.153+486_154-565dupAAGTGAAATACACACGGTGCAGATTACACT TATGGTTAAAAGCAAGGAAAGCATCCTGGAGCTGTAGAAAGAGCATTACA TAGTTAAAGGATCTTGTCAGG	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	2/11			chr5	TogoVar
DIP2B_chr12_50499985_50753657	50593799	C C	CCCCTCCC others(94): Show CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18953.hp2 HG02523.hp2 NA18953.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0028 a0001c0003t0002g0014 a0001c0003t0002g0028	2	284	0.0070	101	c.101 others(120): Show c.101-32176_101-32175insCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593799	C C	CCTCCCCC others(94): Show CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0041	1	284	0.0035	101	c.101 others(120): Show c.101-32171_101-32170insCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598820	C C	CTCCCCTC others(94): Show CTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTC CCCCTCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp2 HG02257.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0001t0008g0181 a0001c0001t0008g0182	2	284	0.0070	101	c.101 others(120): Show c.101-27156_101-27155insTCCCCTCCCCTCTCCCCCCTCCCCTC TCCCCCTCTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598824	T T	TCTCCCCC others(94): Show TCTCCCCCTCTCCCCCCCCCTCCCCCTCTCACCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0024 a0001c0003t0002g0024	1	284	0.0035	101	c.101 others(120): Show c.101-27143_101-27142insTCCCCCCCCCTCCCCCTCTCACCCTC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	965780	A A	ACTGTTCA others(94): Show ACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCGCTGTACACGGC ACTGTTCATCACACACGCGGCTCCAGAGCCCGACCCCCGCATGCACACAG CG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	101	c.73+ others(118): Show c.73+57826_73+57926dupACAGGGCTCCTGAGTCTGACCCCTGCGC TGTACACGGCACTGTTCATCACACACGCGGCTCCAGAGCCCGACCCCCGC ATGCACACAGCGCTGTTCACCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78541139	G G	GGGTGGGG others(94): Show GGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGC GGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGATGAG CA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0008 a0008	a0008c0129 a0008c0129	a0008c0129t0001 a0008c0129t0001	a0008c0129t0001g0162 a0008c0129t0001g0162	1	252	0.0040	101	c.253 others(120): Show c.2533-1260_2533-1259insTGCTCATCCCCCCACCCCGCTCACCC CCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACC CCCCCACCCCGCTCACCCCCCCACC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541139	G G	GGGTGGGT others(94): Show GGGTGGGTGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGC GGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGATGAG CA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01517.hp2 HG00733.hp1 HG01517.hp2	a0001 a0105 a0001 a0105	a0001c0138 a0105c0175 a0001c0138 a0105c0175	a0001c0138t0001 a0105c0175t0002 a0001c0138t0001 a0105c0175t0002	a0001c0138t0001g0226 a0105c0175t0002g0049 a0001c0138t0001g0226 a0105c0175t0002g0049	2	252	0.0079	101	c.253 others(120): Show c.2533-1260_2533-1259insTGCTCATCCCCCCACCCCGCTCACCC CCCCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACC CCCCCACCCCGCTCACCCACCCACC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAJB6_chr7_157332004_157422439	157357212	G G	GTTCGTTC others(94): Show GTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCC TT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0234 a0001c0001t0015g0234	1	372	0.0027	101	c.-26 others(118): Show c.-26-1334_-26-1333insTCGTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTCCTTTCTTT CCTTTCTTTCCTTTCTTTCCTTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(94): Show GAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	101	c.29 others(112): Show c.2939_*2940insAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATAT ATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(94): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGATATATATATATATATATATATATATATATATATATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	101	c.29 others(112): Show c.2939_*2940insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATAT ATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DOCK10_chr2_224760090_225047468	224909792	T T	TAACATGC others(94): Show TAACATGCAGTGTTTTTTTTTTTTTTTTTGTTTTTTTGTTTTTTGAGACA GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC AC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01255.hp2 HG00735.hp2 HG01168.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0005g0002 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0005g0002	3	172	0.0174	101	c.333 others(118): Show c.333+6902_333+6903insGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAACAAAAAAACAAAAA AAAAAAAAAAAACACTGCATGTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	3/55			chr2	TogoVar
DUXA_chr19_57149021_57172485	57172105	C C	CGGGGGCG others(94): Show CGGGGGCGCGCGAGGGGGCGGGGGCGCGCGCGGGGGCGGGGGCGCGCGGG GGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGG CG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	446	0.0022	101	c.-46 others(112): Show c.-4663_-4662insCGCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCG CCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGCGCCCCCG CCCCCTCGCGCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4621		chr19	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATAATATA others(94): Show ATAATATATATATTTATATAATATATTATATATTATATAATATATTATAT AATATATAATATATTTATATAAATATATTATATTTTATATATTATATATA AT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0144 a0001c0001t0018g0144	1	290	0.0035	101	c.-53 others(120): Show c.-53-10548_-53-10547insATTATATATAATATATAAAATATAAT ATATTTATATAAATATATTATATATTATATAATATATTATATAATATATA ATATATTATATAAATATATATATTA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EEFSEC_chr3_128148481_128413646	128150870	A A	ATATATTC others(94): Show ATATATTCTATATATATAATATAATATTCTATATTATATATATAATATAT TCTATATATTATATATATAATATATTCTATATATTATATATATAATATAT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	272	0.0037	101	c.-26 others(112): Show c.-2638_-2637insTATATTCTATATATATAATATAATATTCTATATT ATATATATAATATATTCTATATATTATATATATAATATATTCTATATATT ATATATATAATATATTC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2610		chr3	TogoVar
EIF5B_chr2_99332389_99406326	99365716	T T	TCAAAATC others(94): Show TCAAAATCCCATGGTATACAATTTCTGTTGTCTTTATTCTAAGGCTTCTG CCCATAGTGAGAGACTGAGTCAGTAATCCAGTAATCAGTCTTTAGCATTA GG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 NA18956.hp2 others(1): Show HG00423.hp2 HG00609.hp1 NA18956.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0013 a0001c0002t0001g0143 a0001c0002t0001g0150	4	342	0.0117	101	c.128 others(120): Show c.1288+1296_1288+1297insAAAATCCCATGGTATACAATTTCTGT TGTCTTTATTCTAAGGCTTCTGCCCATAGTGAGAGACTGAGTCAGTAATC CAGTAATCAGTCTTTAGCATTAGGC	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELF1_chr13_40926924_41024316	40955547	T T	TGGGGGGG others(94): Show TGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	362	0.0028	101	c.253 others(118): Show c.253+3288_253+3289insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCC	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(94): Show GACTCCTGGGGGAAACCTAAACCCTTTCATCTGGAAGGTTTGAGAGCTTC CACCGCTGAGAAGGAAGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	352	0.0028	101	c.11 others(114): Show c.11394_*11395insACTCCTGGGGGAAACCTAAACCCTTTCATCTG GAAGGTTTGAGAGCTTCCACCGCTGAGAAGGAAGAAAAAAAAGGGAGTCG GTGGAGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
ERBB4_chr2_211370717_212543802	212249437	T T	TAGAAAAG others(94): Show TAGAAAAGATAGGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAAAAAGAAAAAAAAAAAAACAAACCTCAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0011 a0001c0001t0017	a0001c0001t0011g0041 a0001c0001t0017g0029 a0001c0001t0011g0041 a0001c0001t0017g0029	2	56	0.0357	101	c.83- others(120): Show c.83-124535_83-124534insTTTTTTTTTTTTTTTTTTTTTTTGAG GTTTGTTTTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCTAAGTTT TAGGGTACATGTGCCTATCTTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(94): Show TTATATTATATAATATATATTATATATTATAATATATAATATATATTATA TAATATATATTATATAATATATAATATATATTATATAATATATATTATAT AA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	306	0.0033	101	c.534 others(118): Show c.534-2844_534-2843insTATATAATATATATTATATATTATAATA TATAATATATATTATATAATATATATTATATAATATATAATATATATTAT ATAATATATATTATATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018492	T T	TATTATAT others(94): Show TATTATATTATATAATATATATTATATTATATAATATATATTATATATTA TAATATATAATATATATTATATAATATATATTATATAATATATATTATAT AA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0115 a0003c0004t0001g0115	1	306	0.0033	101	c.534 others(118): Show c.534-2830_534-2829insATTATATTATATAATATATATTATATTA TATAATATATATTATATATTATAATATATAATATATATTATATAATATAT ATTATATAATATATATTATATAA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERC2_chr3_55503311_56473467	56040597	A A	ATATGTAT others(94): Show ATATGTATACATACATATATATCTATATATGTATATATAATATATAGATG TATATGTATATATACATATATAGATGTATATGTATATATACATATATAGA TG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0060 a0003c0006t0004g0060	1	74	0.0135	101	c.164 others(122): Show c.1642-21567_1642-21566insCATCTATATATGTATATATACATA TACATCTATATATGTATATATACATATACATCTATATATTATATATACAT ATATAGATATATATGTATGTATACATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56040597	A A	ATATGTAT others(94): Show ATATGTATACATATACATATACATGTATATGTATACATACATATATATCT ATATATGTATATATAATATATAGATGTATATGTATATATACATATATAGA TG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02922.hp1 HG01167.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0004 a0001c0004t0001g0031 a0001c0001t0001g0004 a0001c0004t0001g0031	2	74	0.0270	101	c.164 others(122): Show c.1642-21567_1642-21566insCATCTATATATGTATATATACATA TACATCTATATATTATATATACATATATAGATATATATGTATGTATACAT ATACATGTATATGTATATGTATACATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56040597	A A	ATATGTAT others(94): Show ATATGTATACATATACATATACATGTATATGTATATATACATATATATCT ATATATGTATATATAATATATAGATGTATATGTATATATACATATATAGA TG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG06807.hp1 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0009g0073 a0001c0002t0002g0016 a0001c0001t0009g0073 a0001c0002t0002g0016	2	74	0.0270	101	c.164 others(122): Show c.1642-21567_1642-21566insCATCTATATATGTATATATACATA TACATCTATATATTATATATACATATATAGATATATATGTATATATACAT ATACATGTATATGTATATGTATACATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERFL_chr19_41902704_41933449	41914569	G G	GTCTCTCC others(94): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCAT CTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTCCAT CA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	330	0.0030	101	c.-13 others(118): Show c.-13-1638_-13-1637insTGATGGAGGGGAGGGAGAGACAGAGATG GTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAGA GATGGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ESYT2_chr7_158725997_158834509	158729411	T T	TGGAGCAA others(94): Show TGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGAC TGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCGTGGAGGTGGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0336 a0003c0003t0004g0336	1	370	0.0027	101	c.47 others(112): Show c.4795_*4796insTCCCCCCACCTCCACGCTTGCTCCTCCCCCCAGC ACCTCCACATTTGCTCCAGTCCCAACCTCCACCTTGCTCCTCCCCCCAGC ACCTCCACATTTGCTCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1585		chr7	TogoVar
EXD3_chr9_137301896_137428162	137350296	G G	GGTTAGAT others(94): Show GGTTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGG GGTGGGGATCATGGGGAGGGGGCTAGATAGAGAGGGGTGGGGATCACGGG GA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02004.hp2 HG00099.hp2 HG02004.hp2	a0003 a0030 a0003 a0030	a0003c0003 a0030c0032 a0003c0003 a0030c0032	a0003c0003t0001 a0030c0032t0001 a0003c0003t0001 a0030c0032t0001	a0003c0003t0001g0025 a0030c0032t0001g0054 a0003c0003t0001g0025 a0030c0032t0001g0054	2	82	0.0244	101	c.149 others(118): Show c.1494+741_1494+742insTCCCCGTGATCCCCACCCCTCTCTATCT AGCCCCCTCCCCATGATCCCCACCCCTCTCTATCTAGAACCTTCCCCGTG ATCCCCACCCCTCTCTATCTAAC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
FAIM_chr3_138603771_138638376	138609535	T T	TCTCTCTC others(94): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTC TC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	368	0.0027	101	c.-17 others(116): Show c.-17+639_-17+640insTCTCCCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609535	T T	TCTCTCTC others(94): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTC TC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0316 a0004c0004t0001g0316	1	368	0.0027	101	c.-17 others(116): Show c.-17+639_-17+640insTCTCTCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609537	T T	TCTCTCTC others(94): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTC TC	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0325 a0002c0002t0001g0326 a0001c0001t0001g0325 a0002c0002t0001g0326	2	368	0.0054	101	c.-17 others(116): Show c.-17+639_-17+640insTCTCTCTCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)