Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
CSNK1A1_chr5_149487982_149556439	149542642	ATATATAT others(44): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19079.hp2 NA20300.hp2 HG01981.hp1 NA19079.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072	3	372	0.0081	-51	c.230 others(68): Show c.230+7382_230+7432delATATATATATATATATATATACATATAT ATATATATATATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CYB5R2_chr11_7660104_7678500	7676035	TCGTACAT others(44): Show TCGTACATAGTGAACTGTAACCTACTCTTGTATCAATCATGGAAGTTTCA GC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	442	0.0023	-51	c.-27 others(62): Show c.-2734_-2684delGCTGAAACTTCCATGATTGATACAAGAGTAGGTT ACAGTTCACTATGTACG		CYB5R2	ENSG00000166394.15	transcript	ENST00000299498.11	protein_coding					2536		chr11	TogoVar
CYP27C1_chr2_127178832_127225299	127204468	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGG AA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	330	0.0030	-51	c.474 others(66): Show c.474-948_474-898delTTCCTTCTTTCTTTCCTTCCTTCCTTCCTT CCTTTCTTTCTTTCTTTCTTT		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8						chr2	TogoVar
CYP2C9_chr10_94933658_94995091	94954059	GAAGTTGG others(44): Show GAAGTTGGAAACTGAGTACTCACTGATACAGAAATTAAGTAGAAATTACT TA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	372	0.0027	-51	c.819 others(68): Show c.819+4776_819+4826delAAGTTGGAAACTGAGTACTCACTGATAC AGAAATTAAGTAGAAATTACTTA		CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding	5/8						chr10	TogoVar
CYP4F12_chr19_15668087_15702174	15678720	CTGCTGGG others(44): Show CTGCTGGGGCAGGCTGGAATGTTTCCTGGAGGAAGAGTTGTTGGAGCTAT GT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0212 a0010c0015t0001g0212	1	408	0.0025	-51	c.343 others(66): Show c.343+316_343+366delTGCTGGGGCAGGCTGGAATGTTTCCTGGAG GAAGAGTTGTTGGAGCTATGT		CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	3/12						chr19	TogoVar
CYP7B1_chr8_64585851_64803737	64686483	GCCCCGTC others(44): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGC CA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02486.hp2 others(15): Show HG01243.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG02818.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 a0001c0001t0022 a0001c0001t0030	a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0084 others(15): Show a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0009g0099 a0001c0001t0009g0100 a0001c0001t0009g0194 a0001c0001t0019g0093 a0001c0001t0022g0020 a0001c0001t0030g0098	18	255	0.0706	-51	c.123 others(70): Show c.123-61995_123-61945delTGGCTGGCCGGGCAGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGG		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5						chr8	TogoVar
CYTH3_chr7_6156779_6277624	6259762	TATATATA others(44): Show TATATATATATTATATATATATAATATATATATATATATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	340	0.0029	-51	c.34+ others(68): Show c.34+12661_34+12711delTATATATATATATATATATATATATATA TTATATATATATAATATATATAT		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12						chr7	TogoVar
DACH1_chr13_71432966_71872204	71735345	TGTATATG others(44): Show TGTATATGGGATATACACGTATACGGGATATACGTGTATATGGGATATAC AC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	70	0.0143	-51	c.849 others(70): Show c.849-53486_849-53436delGTGTATATCCCATATACACGTATATC CCGTATACGTGTATATCCCATATAC		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DACT2_chr6_168301904_168324777	168321862	TCTCCTTC others(44): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA19030.hp1 HG04228.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0006 a0001c0011 a0004c0006	a0001c0011t0002 a0004c0006t0003 a0001c0011t0002 a0004c0006t0003	a0001c0011t0002g0140 a0004c0006t0003g0137 a0001c0011t0002g0140 a0004c0006t0003g0137	2	450	0.0044	-51	c.-22 others(62): Show c.-2280_-2230delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAG		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding					2086		chr6	TogoVar
DAPK1_chr9_87492867_87713634	87644456	AAGCTCCC others(44): Show AAGCTCCCCTTTTTTCTCCTTAAGTTAGTAGCTTCACTGAGGCTTCACAT CT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19012.hp1 NA18950.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0182 a0001c0002t0011g0077 a0001c0002t0001g0182 a0001c0002t0011g0077	2	234	0.0085	-51	c.101 others(69): Show c.1011+992_1011+1042delTCCCCTTTTTTCTCCTTAAGTTAGTAG CTTCACTGAGGCTTCACATCTAGC		DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
DCC_chr18_52335197_53540899	52905140	TATGCATG others(44): Show TATGCATGCTTATGCTTGTATGTAATGGCCAGTTTATTTGTTTTATTTTT TC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02970.hp2 HG01192.hp2 HG02970.hp2	a0002 a0002	a0002c0012 a0002c0018 a0002c0012 a0002c0018	a0002c0012t0011 a0002c0018t0004 a0002c0012t0011 a0002c0018t0004	a0002c0012t0011g0037 a0002c0018t0004g0071 a0002c0012t0011g0037 a0002c0018t0004g0071	2	114	0.0175	-51	c.413 others(66): Show c.413-865_413-815delGTTTTATTTTTTCATGCATGCTTATGCTTG TATGTAATGGCCAGTTTATTT		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCUN1D2_chr13_113450819_113495711	113471209	AGACCCAA others(44): Show AGACCCAACTCCACAGGGGACCCAACTCCACAGAAGACCCAACTTCACAA GG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0146 a0001c0001t0037g0146	1	362	0.0028	-51	c.520 others(68): Show c.520+2864_520+2914delCCTTGTGAAGTTGGGTCTTCTGTGGAGT TGGGTCCCCTGTGGAGTTGGGTC		DCUN1D2	ENSG00000150401.15	transcript	ENST00000478244.6	protein_coding	4/6						chr13	TogoVar
DGKD_chr2_233349494_233477098	233463456	CCACGCAT others(44): Show CCACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATGTCCTCAC TG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0203 a0001c0004t0048g0203	1	329	0.0030	-51	c.318 others(68): Show c.3187-691_3187-641delGCACGCATGTCCTCACTGCACGCATGTC CTCACTGCACGCATGTCCTCACT		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233470792	GGCCGTGG others(44): Show GGCCGTGGCTTCTCTTTGGCTCCCAAAGAGAAGGACAGTGTTGGGAGTAT CT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01109.hp1 others(9): Show HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01975.hp2 HG01978.hp2 HG03017.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp2 NA18612.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017	a0001c0001t0010g0134 a0001c0001t0010g0135 a0001c0001t0010g0136 others(9): Show a0001c0001t0010g0134 a0001c0001t0010g0135 a0001c0001t0010g0136 a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0001t0011g0286 a0001c0001t0011g0290 a0001c0001t0011g0291 a0001c0001t0011g0292 a0001c0001t0011g0294 a0001c0001t0017g0048 a0001c0001t0017g0055	12	334	0.0359	-51	c.13 others(62): Show c.1388_*1438delTGGCTTCTCTTTGGCTCCCAAAGAGAAGGACAGT GTTGGGAGTATCTGCCG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	30/30				1388	INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKI_chr7_137376037_137851974	137517252	AAAAGAAA others(44): Show AAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAGAAAGAAAGAAAGAAAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03654.hp1 HG02622.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0030 a0001c0007t0003 a0001c0003t0030 a0001c0007t0003	a0001c0003t0030g0031 a0001c0007t0003g0071 a0001c0003t0030g0031 a0001c0007t0003g0071	2	84	0.0238	-51	c.224 others(70): Show c.2248+4563_2248+4613delCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTTCTTTCTTTCTTTCTTTCTTT		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	21/32						chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775966	AGTATTCT others(44): Show AGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC AT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02896.hp2 others(1): Show HG02257.hp2 HG02258.hp2 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0169 a0001c0001t0004g0071	4	415	0.0096	-51	c.363 others(68): Show c.363+1043_363+1093delATGTAGGAGAATACTGTAGAATACATGT AGGAGAATACTGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228157	AGGGAGGG others(44): Show AGGGAGGGGGGAAGGGAGGGAGGGAGGGGGGAAGGGGGGAAGGGAGGGAG GG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	48	0.0208	-51	c.805 others(68): Show c.805-6979_805-6929delCCCTCCCTCCCTTCCCCCCTTCCCCCCT CCCTCCCTCCCTTCCCCCCTCCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228363	GGGAGGGA others(44): Show GGGAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGGAGGGAGG GA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	47	0.0213	-51	c.805 others(68): Show c.805-7185_805-7135delTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCATTCCTCCCTCCCTCCCTCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228375	GGGAGGAA others(44): Show GGGAGGAATGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGG AA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp1 HG01934.hp1 others(9): Show HG00673.hp1 HG01928.hp1 HG01934.hp1 HG03491.hp2 HG03710.hp1 HG04204.hp1 NA18747.hp1 NA18943.hp1 NA18952.hp2 NA18966.hp1 NA19005.hp1 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0003 a0001c0001 a0001c0010 a0003c0003	a0001c0001t0001 a0001c0010t0010 a0003c0003t0001 a0001c0001t0001 a0001c0010t0010 a0003c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0010t0010g0011 a0003c0003t0001g0048	12	48	0.2500	-51	c.805 others(68): Show c.805-7197_805-7147delTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTTCATTCCTCC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6						chrX	TogoVar
DIP2C_chr10_269201_694668	584735	CATCACCT others(44): Show CATCACCTCTCAGATAATCTCGGGGCCCACAACCTGGCCCCCACTCACGC GT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	88	0.0114	-51	c.86- others(68): Show c.86-98256_86-98206delACGCGTGAGTGGGGGCCAGGTTGTGGGC CCCGAGATTATCTGAGAGGTGAT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608226	CCCCCACA others(44): Show CCCCCACAGCCCCCCCCACACACACCCCCACAGCCCCCCACACACAGCCC CT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	88	0.0114	-51	c.85+ others(68): Show c.85+81217_85+81267delAGGGGCTGTGTGTGGGGGGCTGTGGGGG TGTGTGTGGGGGGGGCTGTGGGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978633	TATATATC others(44): Show TATATATCTATATATATATATATATATCTATATATAGATATATATATATC TA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	406	0.0025	-51	c.657 others(68): Show c.657+5645_657+5695delATATATCTATATATATATATATATATCT ATATATAGATATATATATATCTA		DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2						chr3	TogoVar
DIS3L2_chr2_231956713_232342192	232333159	TCTCCTCC others(44): Show TCTCCTCCTCCGCTGTCGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0222 a0002c0011t0002g0222	1	272	0.0037	-51	c.201 others(68): Show c.2011-634_2011-584delTCCTCCTCCTCCTCCGCTGTCGCCTCCT CCTCCTCCTCCTCCTCCTCCTCC		DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
DLEC1_chr3_38034208_38129025	38083563	CAAGGACC others(44): Show CAAGGACCAGCCATTTACACTTCTTTTGTGGTGGAATGTCATCAGTTAAG GT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01358.hp1 HG01928.hp1 others(4): Show HG01070.hp1 HG01358.hp1 HG01928.hp1 HG01952.hp2 HG02293.hp1 HG02300.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0246 a0001c0002t0001g0263 others(3): Show a0001c0002t0001g0006 a0001c0002t0001g0246 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0289	7	298	0.0235	-51	c.117 others(68): Show c.1174-594_1174-544delAAGGACCAGCCATTTACACTTCTTTTGT GGTGGAATGTCATCAGTTAAGGT		DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	6/36						chr3	TogoVar
DLGAP2_chr8_732628_1713476	933871	ATGGAGAC others(44): Show ATGGAGACACCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCTGC TG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	37	0.0270	-51	c.73+ others(68): Show c.73+26358_73+26408delCCTGCTGTGGAGACACCTGGCCGTGGGC ACGAGGGGAGGGTGAGGGCAGAG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1140332	CCATCTGG others(44): Show CCATCTGGAAGGCAGAACAGGGCACACACACCTGCTCCGTCCTCTTTGCA GT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG01891.hp1 HG00639.hp1 HG01361.hp1 HG01891.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0024 a0002c0001t0001 a0001c0002t0001 a0001c0003t0024 a0002c0001t0001	a0001c0002t0001g0019 a0001c0003t0024g0003 a0002c0001t0001g0018 a0001c0002t0001g0019 a0001c0003t0024g0003 a0002c0001t0001g0018	3	40	0.0750	-51	c.74- others(70): Show c.74-118517_74-118467delATCTGGAAGGCAGAACAGGGCACACA CACCTGCTCCGTCCTCTTTGCAGTC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1247251	TTTGAGAT others(44): Show TTTGAGATCAGTGTGGGAGTGAGATGGTCCACATCGGTGGCTGGGAAGAC CA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-51	c.74- others(68): Show c.74-11578_74-11528delGATGGTCCACATCGGTGGCTGGGAAGAC CATTGAGATCAGTGTGGGAGTGA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450034	ACGTGTGA others(44): Show ACGTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGTAG CG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-51	c.107 others(70): Show c.107-51331_107-51281delCGTGTGAGGGTGAAGACGAGGTGGGC GGCCTCGGTGGCTGTGACTGTAGCG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14						chr8	TogoVar
DLGAP2_chr8_732628_1713476	1649269	CTAAATTC others(44): Show CTAAATTCTTTTTGCTTCTTCAAAGCTACCAGAATACTCAATACCCAGTG TG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01071.hp2 others(23): Show HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02258.hp1 HG02258.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0001 a0002c0004 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0003t0001 a0001c0003t0006 a0001c0003t0014 a0001c0009t0012 a0001c0010t0025 a0001c0011t0015 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0007t0008	a0001c0002t0001g0015 a0001c0002t0002g0022 a0001c0002t0022g0034 others(23): Show a0001c0002t0001g0015 a0001c0002t0002g0022 a0001c0002t0022g0034 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0009t0012g0006 a0001c0010t0025g0012 a0001c0011t0015g0001 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0007t0008g0040	26	40	0.6500	-51	c.181 others(72): Show c.1810+16257_1810+16307delTACTCAATACCCAGTGTGTAAATT CTTTTTGCTTCTTCAAAGCTACCAGAA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMKN_chr19_35492220_35518649	35511459	ACTGCTGC others(44): Show ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCAC TG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(113): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00733.hp1 HG01069.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02738.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 NA18939.hp2 NA18940.hp2 NA18946.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp1	a0002 a0009 a0012 a0002 a0009 a0012	a0002c0001 a0002c0016 a0002c0023 others(3): Show a0002c0001 a0002c0016 a0002c0023 a0009c0011 a0009c0012 a0012c0015	a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 others(5): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0016t0001 a0002c0023t0001 a0009c0011t0001 a0009c0012t0001 a0012c0015t0001	a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0010 others(53): Show a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0010 a0002c0001t0001g0014 a0002c0001t0001g0016 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0190 a0002c0001t0001g0193 a0002c0001t0001g0195 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0002g0194 a0002c0001t0005g0230 a0002c0016t0001g0059 a0002c0023t0001g0251 a0009c0011t0001g0139 a0009c0011t0001g0140 a0009c0011t0001g0141 a0009c0011t0001g0142 a0009c0011t0001g0143 a0009c0012t0001g0024 a0009c0012t0001g0157 a0012c0015t0001g0188 a0012c0015t0001g0189	116	440	0.2636	-51	c.819 others(58): Show c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCA GTGGTGGCAGCAG	p.Ser others(13): Show p.Ser274_Ser290del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1043/1924	819/1431	273/476			chr19	TogoVar
DNAAF5_chr7_721699_791475	746397	CCCTCCTT others(44): Show CCCTCCTTACCGTCCTGCTGCCCCCCACCCAACATGCCCAGGGCCTGTGA CG	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0122 a0003c0003t0003g0122	1	376	0.0027	-51	c.102 others(70): Show c.1024+4935_1024+4985delTCCTTACCGTCCTGCTGCCCCCCACC CAACATGCCCAGGGCCTGTGACGCC		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH17_chr17_78418697_78582396	78435973	TTTGACAA others(44): Show TTTGACAAGGGTGTGTCCTTTAAAAGCTGGTTGGGAATTGTTAATGGGTG AC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0094 a0094	a0094c0034 a0094c0034	a0094c0034t0001 a0094c0034t0001	a0094c0034t0001g0228 a0094c0034t0001g0228	1	250	0.0040	-51	c.120 others(72): Show c.12033+1617_12033+1667delGTCACCCATTAACAATTCCCAACC AGCTTTTAAAGGACACACCCTTGTCAA		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	74/80						chr17	TogoVar
DNAH6_chr2_84511498_84824589	84691636	CCCAACCC others(44): Show CCCAACCCTGCTGTCATAATGCATAAGCAGCCACAGACAGTAAGTGAATG AA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00735.hp1 others(23): Show HG00099.hp1 HG00140.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01361.hp2 HG01934.hp2 HG02258.hp2 HG02486.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp1 HG04204.hp1 NA20129.hp2	a0001 a0004 a0011 others(2): Show a0001 a0004 a0011 a0012 a0014	a0001c0005 a0001c0010 a0001c0020 others(9): Show a0001c0005 a0001c0010 a0001c0020 a0001c0021 a0001c0026 a0001c0028 a0001c0036 a0004c0007 a0004c0008 a0011c0016 a0012c0017 a0014c0027	a0001c0005t0001 a0001c0010t0001 a0001c0020t0001 others(9): Show a0001c0005t0001 a0001c0010t0001 a0001c0020t0001 a0001c0021t0001 a0001c0026t0001 a0001c0028t0001 a0001c0036t0003 a0004c0007t0001 a0004c0008t0001 a0011c0016t0001 a0012c0017t0001 a0014c0027t0001	a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0022 others(23): Show a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0022 a0001c0005t0001g0023 a0001c0005t0001g0029 a0001c0010t0001g0024 a0001c0010t0001g0025 a0001c0010t0001g0026 a0001c0020t0001g0031 a0001c0021t0001g0032 a0001c0026t0001g0015 a0001c0028t0001g0017 a0001c0036t0003g0060 a0004c0007t0001g0106 a0004c0007t0001g0107 a0004c0007t0001g0110 a0004c0007t0001g0111 a0004c0008t0001g0108 a0004c0008t0001g0112 a0004c0008t0001g0113 a0004c0008t0001g0114 a0011c0016t0001g0083 a0011c0016t0001g0084 a0012c0017t0001g0115 a0012c0017t0001g0116 a0014c0027t0001g0016	26	114	0.2281	-51	c.729 others(70): Show c.7293-2612_7293-2562delCCAACCCTGCTGTCATAATGCATAAG CAGCCACAGACAGTAAGTGAATGAA		DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	45/76						chr2	TogoVar
DNAH8_chr6_38710311_39035792	38922022	TAATGTCA others(44): Show TAATGTCATCAGTTAAGGCAGGAACAGGCCATTTTCACTTCTTTTGTGGT GG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp2 others(80): Show HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02976.hp1 HG03490.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18954.hp2 NA18959.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18990.hp1 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp2 NA19063.hp2 NA19077.hp2 NA19081.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0017 a0020 a0022 a0031 a0032 a0035 a0040 a0045 a0050 a0056 a0062 a0065 a0068 a0070 a0073 a0075 a0076 a0078 a0081	a0001c0001 a0001c0035 a0001c0103 others(43): Show a0001c0001 a0001c0035 a0001c0103 a0001c0129 a0002c0004 a0002c0010 a0002c0013 a0003c0006 a0003c0015 a0004c0002 a0004c0017 a0005c0005 a0005c0029 a0006c0003 a0007c0012 a0007c0019 a0007c0066 a0007c0131 a0008c0018 a0008c0052 a0008c0056 a0009c0008 a0010c0009 a0011c0042 a0011c0116 a0012c0126 a0014c0020 a0017c0026 a0020c0032 a0022c0028 a0031c0033 a0032c0070 a0035c0112 a0040c0084 a0045c0048 a0050c0109 a0056c0120 a0062c0088 a0065c0087 a0068c0064 a0070c0074 a0073c0114 a0075c0121 a0076c0072 a0078c0139 a0081c0113	a0001c0001t0001 a0001c0035t0001 a0001c0103t0001 others(43): Show a0001c0001t0001 a0001c0035t0001 a0001c0103t0001 a0001c0129t0001 a0002c0004t0001 a0002c0010t0001 a0002c0013t0001 a0003c0006t0001 a0003c0015t0001 a0004c0002t0001 a0004c0017t0001 a0005c0005t0001 a0005c0029t0001 a0006c0003t0001 a0007c0012t0001 a0007c0019t0001 a0007c0066t0001 a0007c0131t0001 a0008c0018t0001 a0008c0052t0001 a0008c0056t0001 a0009c0008t0001 a0010c0009t0001 a0011c0042t0001 a0011c0116t0001 a0012c0126t0001 a0014c0020t0001 a0017c0026t0001 a0020c0032t0001 a0022c0028t0001 a0031c0033t0001 a0032c0070t0001 a0035c0112t0001 a0040c0084t0001 a0045c0048t0001 a0050c0109t0001 a0056c0120t0001 a0062c0088t0001 a0065c0087t0001 a0068c0064t0001 a0070c0074t0001 a0073c0114t0001 a0075c0121t0001 a0076c0072t0001 a0078c0139t0001 a0081c0113t0001	a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0062 others(80): Show a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0035t0001g0028 a0001c0103t0001g0143 a0001c0129t0001g0216 a0002c0004t0001g0122 a0002c0010t0001g0040 a0002c0013t0001g0135 a0002c0013t0001g0136 a0002c0013t0001g0137 a0002c0013t0001g0138 a0002c0013t0001g0139 a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0103 a0003c0006t0001g0109 a0003c0006t0001g0121 a0003c0006t0001g0192 a0003c0006t0001g0195 a0003c0006t0001g0197 a0003c0015t0001g0049 a0003c0015t0001g0094 a0003c0015t0001g0157 a0003c0015t0001g0237 a0004c0002t0001g0199 a0004c0017t0001g0124 a0005c0005t0001g0048 a0005c0029t0001g0086 a0006c0003t0001g0163 a0007c0012t0001g0177 a0007c0012t0001g0180 a0007c0012t0001g0243 a0007c0012t0001g0245 a0007c0019t0001g0174 a0007c0019t0001g0211 a0007c0066t0001g0088 a0007c0131t0001g0254 a0008c0018t0001g0032 a0008c0052t0001g0164 a0008c0056t0001g0066 a0009c0008t0001g0061 a0009c0008t0001g0188 a0010c0009t0001g0030 a0010c0009t0001g0091 a0010c0009t0001g0092 a0010c0009t0001g0151 a0010c0009t0001g0162 a0011c0042t0001g0201 a0011c0042t0001g0277 a0011c0116t0001g0191 a0012c0126t0001g0222 a0014c0020t0001g0051 a0014c0020t0001g0052 a0017c0026t0001g0200 a0017c0026t0001g0207 a0020c0032t0001g0042 a0020c0032t0001g0044 a0022c0028t0001g0272 a0022c0028t0001g0274 a0031c0033t0001g0095 a0031c0033t0001g0096 a0032c0070t0001g0166 a0035c0112t0001g0002 a0040c0084t0001g0105 a0045c0048t0001g0184 a0050c0109t0001g0158 a0056c0120t0001g0006 a0062c0088t0001g0080 a0065c0087t0001g0190 a0068c0064t0001g0045 a0070c0074t0001g0089 a0073c0114t0001g0227 a0075c0121t0001g0119 a0076c0072t0001g0027 a0078c0139t0001g0171 a0081c0113t0001g0087	83	284	0.2923	-51	c.106 others(70): Show c.10662+541_10662+591delAGGCCATTTTCACTTCTTTTGTGGTG GAATGTCATCAGTTAAGGCAGGAAC		DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	71/92					INFO_REALIGN_3_PRIME	chr6	TogoVar
DOCK5_chr8_25179689_25420711	25216558	GTGCATAC others(44): Show GTGCATACAATATGTATAGATGTATACAATATGTGCATACAATATGTATA GA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0044 a0001c0035t0044	a0001c0035t0044g0205 a0001c0035t0044g0205	1	206	0.0049	-51	c.44- others(68): Show c.44-27113_44-27063delCATACAATATGTATAGATGTATACAATA TGTGCATACAATATGTATAGATG		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216654	GTGTATAC others(44): Show GTGTATACAATATGTATAGATGTATACAATATGTGTATACAATATGTATA GA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 NA18906.hp2 HG02145.hp1 HG02886.hp1 NA18906.hp2	a0001 a0001	a0001c0012 a0001c0015 a0001c0018 a0001c0012 a0001c0015 a0001c0018	a0001c0012t0005 a0001c0015t0020 a0001c0018t0001 a0001c0012t0005 a0001c0015t0020 a0001c0018t0001	a0001c0012t0005g0148 a0001c0015t0020g0182 a0001c0018t0001g0149 a0001c0012t0005g0148 a0001c0015t0020g0182 a0001c0018t0001g0149	3	203	0.0148	-51	c.44- others(68): Show c.44-27005_44-26955delATAGATGTATACAATATGTGTATACAAT ATGTATAGATGTATACAATATGT		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216718	GTGTATAC others(44): Show GTGTATACAATATGTATAGATGTATACAATATGTGTATACAATATGTATA GA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0127 a0001c0002t0081g0127	1	179	0.0056	-51	c.44- others(68): Show c.44-26941_44-26891delATAGATGTATACAATATGTGTATACAAT ATGTATAGATGTATACAATATGT		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK1_chr2_74549720_74562551	74561103	GAGGAGGA others(44): Show GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	332	0.0030	-51	c.39 others(62): Show c.3990_*4040delAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGA		DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding					3553		chr2	TogoVar
DPEP1_chr16_89608642_89643433	89615370	GCTGGTCT others(44): Show GCTGGTCTACACGCAGCTCTGGAGTCTCTGGACCTGTGTCCTGTGCGTAC AT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	248	0.0040	-51	c.-10 others(70): Show c.-107+1653_-107+1703delTGGTCTACACGCAGCTCTGGAGTCTC TGGACCTGTGTCCTGTGCGTACATC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPPA5_chr6_73348063_73359276	73354654	CTGCCTCA others(44): Show CTGCCTCACACGTTCCAAAGAAGGGTCCGTATCCCCTCGGCCTTAAGGAG CA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	-51	c.-48 others(60): Show c.-480_-430delTGCTCCTTAAGGCCGAGGGGATACGGACCCTTCTTT GGAACGTGTGAGGCA		DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding					379		chr6	TogoVar
DUSP1_chr5_172763096_172776195	172764119	TGGGCGCT others(44): Show TGGGCGCTCAAGCACGAGCGCCCCTCCGGAGCGCTCCAGAGCCACTCCGG AG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	460	0.0022	-51	c.45 others(62): Show c.4592_*4642delCTCCGGAGTGGCTCTGGAGCGCTCCGGAGGGGCG CTCGTGCTTGAGCGCCC		DUSP1	ENSG00000120129.6	transcript	ENST00000239223.4	protein_coding					3976		chr5	TogoVar
DUXA_chr19_57149021_57172485	57172054	GGGGCGTG others(44): Show GGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGG GC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19077.hp2 NA19030.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0114 a0001c0001t0001g0003 a0001c0001t0002g0114	2	442	0.0045	-51	c.-46 others(62): Show c.-4662_-4612delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC CGCCCCCTCGCACGCCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4570		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	GGGGGCGC others(44): Show GGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGG GC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	339	0.0029	-51	c.-46 others(62): Show c.-4679_-4629delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4587		chr19	TogoVar
DYNLT3_chrX_37833836_37852571	37842388	AATTATAT others(44): Show AATTATATTCTCATTCATACTATGTGATTGTTTAGCTATGAAACAACAAC TG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02622.hp2 HG02647.hp1 others(2): Show HG00597.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0002t0008	a0001c0001t0001g0088 a0001c0001t0004g0030 a0001c0002t0004g0114 others(1): Show a0001c0001t0001g0088 a0001c0001t0004g0030 a0001c0002t0004g0114 a0001c0002t0008g0113	5	322	0.0155	-51	c.73- others(64): Show c.73-534_73-484delCAGTTGTTGTTTCATAGCTAAACAATCACATA GTATGAATGAGAATATAAT		DYNLT3	ENSG00000165169.11	transcript	ENST00000378578.9	protein_coding	2/4						chrX	TogoVar
EDNRA_chr4_147476097_147549954	147544520	CATATTTT others(44): Show CATATTTTAGGACAGGTAAAATAACATCAGGTTCCAGTTGCTTGAATTGC AA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0013 a0001c0001t0027g0013	1	278	0.0036	-51	c.19 others(62): Show c.1903_*1953delATATTTTAGGACAGGTAAAATAACATCAGGTTCC AGTTGCTTGAATTGCAA		EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	8/8				1903		chr4	TogoVar
EIF3CL_chr16_28374715_28408841	28380189	TGCTCCAA others(44): Show TGCTCCAATCCCTCCATGGCTCCACCTGCCCGCTTCCCACCCCGGCCCCT AC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp2 others(35): Show HG00280.hp1 HG00639.hp1 HG00642.hp2 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0006 a0001c0012 others(5): Show a0001c0001 a0001c0006 a0001c0012 a0002c0002 a0002c0018 a0003c0003 a0004c0004 a0005c0009	a0001c0001t0001 a0001c0006t0001 a0001c0012t0002 others(5): Show a0001c0001t0001 a0001c0006t0001 a0001c0012t0002 a0002c0002t0001 a0002c0018t0001 a0003c0003t0002 a0004c0004t0001 a0005c0009t0002	a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0118 others(35): Show a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0006t0001g0139 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0006t0001g0147 a0001c0012t0002g0009 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0018t0001g0028 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0016 a0004c0004t0001g0136 a0005c0009t0002g0015	38	170	0.2235	-51	c.249 others(66): Show c.2499+52_2500-52delGTAGGGGCCGGGGTGGGAAGCGGGCAGGTG GAGCCATGGAGGGATTGGAGC		EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	19/20						chr16	TogoVar
EIPR1_chr2_3183970_3382818	3247001	GGAGGAGA others(44): Show GGAGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAGGGAGAGAGGGAGGGA GA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG02257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0040 a0001c0001t0004g0042 a0001c0001t0001g0040 a0001c0001t0004g0042	2	247	0.0081	-51	c.416 others(70): Show c.416+10247_416+10297delTCTCCCTCCCTCTCTCCCTCCCTCGC TCTCTCCCTCCCTCGCTCTCTCCTC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3336841	AGGAAGGG others(44): Show AGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGA AG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02145.hp2 others(10): Show HG01123.hp2 HG01884.hp2 HG02145.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03195.hp2 HG03540.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0003g0234	13	224	0.0580	-51	c.259 others(68): Show c.259+1125_259+1175delCTTCCCTTTTCCCTTCCCTTCCCTTTTC CCTTCCCTTCCCTTTTCCCTTCC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ELP1_chr9_108862517_108939124	108900756	ACACACAC others(44): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG01517.hp2 others(14): Show HG01243.hp2 HG01515.hp1 HG01517.hp2 HG02056.hp2 HG02165.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02895.hp2 HG03041.hp2 HG03225.hp1 HG03654.hp1 HG03710.hp2 NA18747.hp1 NA18942.hp1 NA18967.hp2	a0001 a0006 a0008 others(2): Show a0001 a0006 a0008 a0010 a0014	a0001c0001 a0001c0015 a0006c0006 others(3): Show a0001c0001 a0001c0015 a0006c0006 a0008c0010 a0010c0014 a0014c0025	a0001c0001t0002 a0001c0001t0003 a0001c0015t0014 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0015t0014 a0006c0006t0008 a0008c0010t0009 a0010c0014t0012 a0014c0025t0008	a0001c0001t0002g0031 a0001c0001t0002g0308 a0001c0001t0002g0310 others(13): Show a0001c0001t0002g0031 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0328 a0001c0001t0003g0058 a0001c0015t0014g0259 a0001c0015t0014g0260 a0006c0006t0008g0357 a0006c0006t0008g0360 a0006c0006t0008g0361 a0006c0006t0008g0362 a0006c0006t0008g0364 a0008c0010t0009g0342 a0010c0014t0012g0027 a0014c0025t0008g0358	17	135	0.1259	-51	c.201 others(68): Show c.2015-432_2015-382delGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTG		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36						chr9	TogoVar
EML1_chr14_99788413_99947060	99927846	ATGGTGGT others(44): Show ATGGTGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGTGGTGGT GG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0019 a0001c0003t0004g0019	1	282	0.0035	-51	c.190 others(70): Show c.1909+6983_1909+7033delAGTGGTAGTAGTGGTGGCGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGT		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results