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
CACNG7_chr19_53904278_53948950	53922952	AGTTGCCC others(236): Show AGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGACTGGTCATTG GTGCAGTTGCCCCAGGCCTGGTCATTGGTGCAGTTGTCCCAGGCCTGGTC ATTGGTGCAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGCT GGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAG GTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02622.hp2 HG02809.hp2 others(3): Show HG00597.hp1 HG02622.hp2 HG02809.hp2 HG03831.hp2 HG04228.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0024g0014	6	364	0.0165	-243	c.424 others(17): Show c.424+7452_424+7694del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP54_chr12_96484577_96880555	96827127	ATTATATG others(236): Show ATTATATGTGATTATATATAATGTGCAATTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGA TTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03942.hp1 HG04204.hp2 others(5): Show HG00609.hp2 HG03942.hp1 HG04204.hp2 NA18942.hp1 NA18983.hp1 NA18989.hp2 NA19054.hp1 NA19063.hp2	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0003 a0002c0058 a0003c0002 others(1): Show a0002c0003 a0002c0058 a0003c0002 a0012c0021	a0002c0003t0001 a0002c0058t0001 a0003c0002t0004 others(1): Show a0002c0003t0001 a0002c0058t0001 a0003c0002t0004 a0012c0021t0001	a0002c0003t0001g0133 a0002c0003t0001g0157 a0002c0003t0001g0159 others(5): Show a0002c0003t0001g0133 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0058t0001g0077 a0003c0002t0004g0265 a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0205	8	268	0.0299	-243	c.909 others(19): Show c.9097-1867_9097-1625del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(236): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGA TTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02602.hp2 HG00609.hp1 HG02602.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0224 a0003c0002t0001g0227 a0003c0002t0001g0224 a0003c0002t0001g0227	2	268	0.0075	-243	c.909 others(19): Show c.9097-1840_9097-1598del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNN2_chr19_1021608_1044065	1033887	AGCGTGGG others(236): Show AGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACAC GGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGAC CGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTG GGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGT GTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	390	0.0026	-243	c.390 others(17): Show c.390+1192_390+1434del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CYBC1_chr17_82437586_82455752	82448246	AAGTGGAC others(236): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA CGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01515.hp2 HG01517.hp1 others(4): Show HG00408.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG04184.hp1 NA19084.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0110 a0001c0001t0003g0111 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0110 a0001c0001t0003g0111 a0002c0003t0001g0039	7	416	0.0168	-243	c.85+ others(13): Show c.85+681_86-626del	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
DIP2C_chr10_269201_694668	401878	ATTTTCAT others(236): Show ATTTTCATCAGCACATGAATCCTGTGATTTTACACGTGTGGTAGCATTAG CGTTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCCTCAGCACATAAA TCCTGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGA CAAGTTTGGTATGTGTTCATCAGCACATGAATCCTGTGATTTTACATGTG TGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTACG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-243	c.115 others(19): Show c.1150-2902_1150-2660del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	9/36			chr10	TogoVar
DIP2C_chr10_269201_694668	403699	AGCATTAG others(236): Show AGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTACATTTTCATCAG CCCATGAATCCTGTGATTCTACATGTGTGGTAGTATTAGCATTACTCTTC CTTATGGACAAGTTTGGTACGTTTTCATCAGCACATGAATCCTGTGATTT TACACGTGTGGTGGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTA TGTGTTCCTCAGCACATGAATCCTGTGATTTTACACGTGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-243	c.115 others(19): Show c.1150-4723_1150-4481del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	9/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1248205	GGAGTGAT others(236): Show GGAGTGATGGTCCATGTCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGG GAGTGATGGTCCATGTCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGG AGTAATGGCCCACGTCGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGGA GTGATGGTCCATGTTGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGGAG TGATGGCCCATGTTGGTGGCCGGCAAGACCTTTGACATCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0031 a0003c0005t0002g0031	1	40	0.0250	-243	c.74- others(17): Show c.74-10644_74-10402del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK1_chr10_126900428_127457516	127428731	CTGTGGAT others(236): Show CTGTGGATTGGGGTGCTGTGTGGATTGGGGTACCGTGTGGACTGTGGTGC TGTGTGGACTGTGTCATGTGGATTGGGGTGCCGTGTGGATTGGGGTACCG TGTGGATTGTGCCGTGTGGATTGGGGTGTCGTGTGGATTGGGGTGCCATG TGGATTGGGGTACCGTGTGGATTGAGCCGTGTGGATTGGGGTACCGTGTG GATTGTGCCGTGTGGATTGGGGTGCTGTGTGGATTCGGGTACCA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp1 HG02559.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0030 a0003c0050 a0001c0030 a0003c0050	a0001c0030t0001 a0003c0050t0003 a0001c0030t0001 a0003c0050t0003	a0001c0030t0001g0034 a0003c0050t0003g0129 a0001c0030t0001g0034 a0003c0050t0003g0129	2	136	0.0147	-243	c.491 others(19): Show c.4914+2736_4914+2978del	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	47/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EHHADH_chr3_185185624_185259049	185230621	CTAAACAA others(236): Show CTAAACAAAAAAAGCCAGTCACAGGAGACCACATATCGTATGATTCTGTT TATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGT CACAGGAGACCACATATCATATGATTCTGTTTATATGAAATATCCAGAAT AGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCA TATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01099.hp1 others(3): Show HG00099.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG03490.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0164 a0001c0001t0001g0166 others(3): Show a0001c0001t0001g0136 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0262	6	348	0.0172	-243	c.352 others(17): Show c.352-1321_352-1079del	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6			chr3	TogoVar
ERFL_chr19_41902704_41933449	41914584	TCCCTTTC others(236): Show TCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTC TGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA TCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCC ACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCC TTCCACCGTCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	330	0.0030	-243	c.-13 others(17): Show c.-13-1895_-13-1653del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
FARP2_chr2_241351285_241499841	241457378	GCACTAGG others(236): Show GCACTAGGGACTGCTTTGGGTTCCGGAGAGGCTCTTGGGCAGGAGGCCCA GTGTAGAAAGATCTGGGTGCTAAGGGAGGGTACACTAGGGACCGCTTTGG GTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTG CTAAGGGAGGGTGCACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGG GCGGGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG02970.hp1 others(2): Show HG00642.hp2 HG01243.hp2 HG02970.hp1 HG03579.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 others(2): Show a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0006t0001g0236	5	378	0.0132	-243	c.158 others(17): Show c.1587+467_1587+709del	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FLT4_chr5_180596506_180654600	180635350	GAGGGTGG others(236): Show GAGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGATGGGAGGGT GGGTGGATGGATGGATGGATGGAAGTATGGGTGGATGGGAGGGTGGGTGG ATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGTGGGATGGAA GTGTGGGTGGATGGGAGGGTGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	388	0.0026	-243	c.59- others(15): Show c.59-3815_59-3573del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXN3_chr14_89151177_89422233	89361835	CCACTACC others(236): Show CCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACC TCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCAC CACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCA CTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCC AGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0068 a0001c0001t0054g0068	1	230	0.0044	-243	c.544 others(19): Show c.544-11270_544-11028del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNT9_chr12_132191372_132334589	132234827	AGAGGAGA others(236): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	183	0.0055	-243	c.107 others(21): Show c.1077+12840_1077+13082del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GRP_chr18_59215158_59235771	59234335	ATACATAC others(236): Show ATACATACCATGGTATATATATAATATAACATATTATACATACCATGGTA TATATATAATATAACATATTATACATACCATGGTATATATATAATATAAC ATATTATACATACCATGGTATATATATAATATAACATATTATACATACCA TGGTATATATATAATATAACATATTATACATACCATGGTATATATATAAT ATAACATATTATACATACCATGGTATATATATTATATAACATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	408	0.0025	-243	c.38 others(11): Show c.3868_*4110del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3565		chr18	TogoVar
IL3RA_chrX_1331785_1387689	1366666	CGGGTGAG others(236): Show CGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGT GCGCGGAGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCG GGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTG AGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGAGCGG GGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	115	0.0087	-243	c.874 others(17): Show c.874+1456_874+1698del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366981	GGGGTGAG others(236): Show GGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGT GCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTG AGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGG GGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	115	0.0087	-243	c.874 others(17): Show c.874+1735_874+1977del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
ISOC2_chr19_55447985_55466642	55450272	CGGGGACA others(236): Show CGGGGACAGAGACCCAGAGAGAGGGGACAGAGACTCAGAGAGACAGGGGG ACAGGGACCCAGAGAGATGGGGGACAGAGACCCAGAGAGAGGGGGACAGA GACCCAGAGACGGGGACAGAGACCCAGAGAGAGGGGACAGAGACTCAGAG AGACAGGGGGACAGGGACCCAGAGAGATGGGGGACAGAGACCCAGAGAGA GGGGGACAGAGACCCAGAGACGGGGACAGAGACCCAGAAAGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(58): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01175.hp1 HG01255.hp1 HG01433.hp2 HG01934.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02451.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18978.hp1 NA18984.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0005c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0091 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0003g0117 a0001c0001t0005g0031 a0001c0001t0005g0072 a0001c0001t0008g0046 a0001c0001t0009g0166 a0001c0001t0009g0167 a0005c0008t0001g0142	61	380	0.1605	-243	c.27 others(11): Show c.2793_*3035del	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		2712		chr19	TogoVar
MCF2L_chr13_112964214_113104742	113025558	AGTCTCTG others(236): Show AGTCTCTGGGAGGTTTCATCATGGTGGGGTCCCCGTGACTGTGGGTCGGG GCAGAGTCCCTGTGAGGTTTCCCCATTGTGGGGTCCCTGCAACTATGGGA TGAGGCAGAGTCCCTGTGAGATTTCCCTGTCATGGGGTCCCCGTGACTGT GGGTCGGGGCAGAGTCCCTGTGAGATTTCACCAGGGTGGGGTCCCTGCAA CTATGGGATGAGGCAGAGTCCCTGTGAGATTTCCCTGTCATGGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG01346.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0024 a0001c0001t0001g0037	2	116	0.0172	-243	c.278 others(16): Show c.278+804_278+1046del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
OTUD7A_chr15_31470398_31875673	31511035	AACATACA others(236): Show AACATACATGTATATCTATATGTAACATACATATATATGTATATCTATAT GTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATAT GTAACATACATATGTATATCTATATGTAACATACATATGTATATCTATAT GTAACACACATATGTATATCTATATGTAACACACATACATATGTATATCT ATATGTAACACACATACATATGTATATCTATATGTAACACACAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0202 a0001c0002t0021g0202	1	244	0.0041	-243	c.894 others(17): Show c.894-7460_894-7218del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PKD1_chr16_2083708_2140898	2128090	GAGGGAGG others(236): Show GAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGG CTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGA GGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGT GGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAG AGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	216	0.0046	-243	c.215 others(17): Show c.215+7142_215+7384del	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
PRKCA_chr17_66297613_66815743	66798734	ATGGTGGT others(236): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0082 a0001c0003t0082	a0001c0003t0082g0131 a0001c0003t0082g0131	1	178	0.0056	-243	c.185 others(19): Show c.1855-5097_1855-4855del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799304	ATGGTGGT others(236): Show ATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	178	0.0056	-243	c.185 others(19): Show c.1855-4554_1855-4312del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2122601	GGCGGTGG others(236): Show GGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTG GTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	286	0.0035	-243	c.335 others(19): Show c.335-12659_335-12417del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122633	TTGTGGTG others(236): Show TTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTT GTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp1 HG01192.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0204 a0001c0002t0001g0152 a0001c0002t0001g0204	2	286	0.0070	-243	c.335 others(19): Show c.335-12628_335-12386del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123703	AGTTAGGG others(236): Show AGTTAGGGTGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGG TAGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTG GTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGT GGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCA CGGCGGCGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0176 a0001c0001t0001g0048 a0001c0001t0001g0176	2	286	0.0070	-243	c.335 others(19): Show c.335-11550_335-11308del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB40C_chr16_585066_634268	611780	GGCCTGTA others(236): Show GGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTCGCCTGTAGAATCAA GAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCG CCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAA TCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACA GCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01256.hp2 HG01975.hp2 others(12): Show HG00544.hp1 HG01256.hp2 HG01975.hp2 HG01993.hp1 HG02132.hp2 HG02165.hp2 HG02602.hp1 HG03017.hp1 HG03041.hp1 HG03669.hp1 HG03704.hp1 HG04228.hp1 NA19007.hp1 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 a0001c0001t0022	a0001c0001t0002g0002 a0001c0001t0002g0244 a0001c0001t0002g0246 others(12): Show a0001c0001t0002g0002 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0282 a0001c0001t0002g0292 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0009g0316 a0001c0001t0019g0003 a0001c0001t0022g0002	15	350	0.0429	-243	c.143 others(17): Show c.143-5408_143-5166del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	612398	GGCCTGTA others(236): Show GGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTCGCCTGTAGAATCAA GAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCG CCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAA TCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACA GCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02976.hp1 HG01978.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0278 a0001c0001t0034g0156 a0001c0001t0002g0278 a0001c0001t0034g0156	2	350	0.0057	-243	c.143 others(17): Show c.143-4790_143-4548del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	612485	CACGGGAC others(236): Show CACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCC CTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATC AAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGC CGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCTGCCCTGGCCTGTAGC ATCAAGAGCAAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGC	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	350	0.0029	-243	c.143 others(17): Show c.143-4721_143-4479del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEH1L_chr18_12943011_12992531	12980025	ACGGGCGG others(236): Show ACGGGCGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGTCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCC TCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCCCCCCACCTCCCTCCCGGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	388	0.0026	-243	c.761 others(17): Show c.761+1138_761+1380del	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC16A9_chr10_59645764_59714850	59681456	GTGTATGT others(236): Show GTGTATGTGTATGTATATGTATATGTATATGTATATGTATATGTATATGT ATATGATGTATATGTATATGTGTATGTGTATGTGTATGTATATGTATATG TATATGATGTATATGTATATGTGTATGTGTATGTATATGTATATGTATAT GTATATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTATA TGTATATGATGTATATGTATATGTATATGTATATGTATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02809.hp1 others(7): Show HG02145.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1 NA18979.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0040 a0001c0001t0002 a0001c0001t0005 a0001c0001t0040	a0001c0001t0002g0144 a0001c0001t0005g0010 a0001c0001t0005g0018 others(7): Show a0001c0001t0002g0144 a0001c0001t0005g0010 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0048 a0001c0001t0040g0281	10	352	0.0284	-243	c.196 others(17): Show c.196+2397_196+2639del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
TCF3_chr19_1604292_1657615	1628563	CGGGGGTG others(236): Show CGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0103 a0001c0007t0103	a0001c0007t0103g0351 a0001c0007t0103g0351	1	352	0.0028	-243	c.299 others(17): Show c.299-1380_299-1138del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129088450	GGGTGTCC others(236): Show GGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGATGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCCCT GACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCC ATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGATGTCC TCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	94	0.0106	-243	c.144 others(19): Show c.1444-3991_1444-3749del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TRPM2_chr21_44348621_44447644	44395674	GTGTGGAG others(236): Show GTGTGGAGGGGTGTGGAGGGCTGTGGAGGATGTGGAGGGGTGTGGAGGGC TGTGGAGGGATGTGGAGGCTGTGGAGGGGTGTGGAGGGGTGTGGAGGGCT GTGGAGGATGTGGAGGGGTGTGGAGGGCTGTGGAGGGATGTGGAGGCTGT GGAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGATGTGGAGGGGTGTG GAGGGCTGTGGAGGGGTGTGGAGACTGTGGAGGGGTGTGGAGGC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02273.hp1 HG02293.hp2 HG02004.hp1 HG02273.hp1 HG02293.hp2	a0003 a0009 a0003 a0009	a0003c0007 a0009c0015 a0003c0007 a0009c0015	a0003c0007t0003 a0009c0015t0002 a0003c0007t0003 a0009c0015t0002	a0003c0007t0003g0001 a0003c0007t0003g0003 a0009c0015t0002g0002 a0003c0007t0003g0001 a0003c0007t0003g0003 a0009c0015t0002g0002	3	44	0.0682	-243	c.193 others(17): Show c.1932+140_1932+382del	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFP69_chr1_40472290_40501343	40501100	GTGATCTC others(236): Show GTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCTAGCAATTCTCA TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGTCT GGCTAATTTTTTTGTATTTTATAGTAGAGATGGGGTTTCACCATGGTGAC CAGGCCAGTTTCAAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTC CCAAAGTGCTGGGATTACAGCTGTGAGCCACTGCACCTGGCCTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01928.hp2 others(16): Show HG00423.hp1 HG00621.hp2 HG01928.hp2 HG02056.hp2 HG02523.hp1 HG02809.hp2 HG03453.hp1 HG03490.hp2 NA18945.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp2 NA18973.hp2 NA18991.hp2 NA19009.hp2 NA19064.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0007t0007	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0269 others(14): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0011g0101 a0001c0001t0013g0057 a0001c0007t0007g0283	19	404	0.0470	-243	c.50 others(11): Show c.5042_*5284del	ZFP69	ENSG00000187815.10	transcript	ENST00000372706.6	protein_coding		4758		chr1	TogoVar
ZNF493_chr19_21392133_21432577	21400564	GGCTAATA others(236): Show GGCTAATACTGAGCCTGCAAAAGGAGTTTATTAAAGGCCTAGTTAGTTTT TTTTCTGGAGAGCCTCCCCTGCAGATGTTCCAGCCTGCTCACTCCAGCCA TGGAAGAAGCCTTTCTGCTGACAGAAGCTACAGAGTCCTGGAAAGCTACA GGCAGATGCAGTTAAGGTTAAGATAAAAGGGGACAGGGAGGGTCATACTG ACCATGTAGTTGTTATTGTACATCAGGGATGCTATGATTTAGTA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0337 a0002c0002t0012g0337	1	360	0.0028	-243	c.30+ others(15): Show c.30+3298_30+3540del	ZNF493	ENSG00000196268.12	transcript	ENST00000392288.7	protein_coding	1/3			chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410537	ATATATAT others(236): Show ATATATATATATATATATATATGTGTATATATATATGTATATATATGTAT ATATATGTATATATATGTATATATATGTGTATATATGTGTATATATGTGT ATATATATGTGTATATATGTGTATATATGTATATATGTGTATATATATGT ATATATGTATATATATATGTATATATGTGTATATATATATGTATATATAT ATATGTGTGTATATATATATATATATGTATATATATATATAATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0264 a0003c0003t0004g0264	1	426	0.0024	-243	c.169 others(15): Show c.169+448_169+690del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410539	ATATATAT others(236): Show ATATATATATATATATATATGTGTATATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTGTATATATGTGTATATATGTGTAT ATATATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTAT ATATGTATATATATATGTATATATGTGTATATATATATGTATATATATAT ATGTGTGTATATATATATATATATGTATATATATATATAATTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG03139.hp2 others(2): Show HG02630.hp1 HG02895.hp2 HG03139.hp2 HG06807.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0271 others(2): Show a0002c0002t0005g0269 a0002c0002t0005g0270 a0002c0002t0005g0271 a0002c0002t0005g0272 a0002c0002t0005g0273	5	426	0.0117	-243	c.169 others(15): Show c.169+450_169+692del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410541	ATATATAT others(236): Show ATATATATATATATATATGTGTATATATATATGTATATATATGTATATAT ATGTATATATATGTATATATATGTGTATATATGTGTATATATGTGTATAT ATATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTATAT ATGTATATATATATGTATATATGTGTATATATATATGTATATATATATAT GTGTGTATATATATATATATATGTATATATATATATAATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0262 a0003c0003t0004g0262	1	426	0.0024	-243	c.169 others(15): Show c.169+452_169+694del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410543	ATATATAT others(236): Show ATATATATATATATATGTGTATATATATATGTATATATATGTATATATAT GTATATATATGTATATATATGTGTATATATGTGTATATATGTGTATATAT ATGTGTATATATGTGTATATATGTATATATGTGTATATATATGTATATAT GTATATATATATGTATATATGTGTATATATATATGTATATATATATATGT GTGTATATATATATATATATGTATATATATATATAATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0250 a0003c0003t0004g0250	1	426	0.0024	-243	c.169 others(15): Show c.169+454_169+696del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF584_chr19_58403649_58423327	58410545	ATATATAT others(236): Show ATATATATATATATGTGTATATATATATGTATATATATGTATATATATGT ATATATATGTATATATATGTGTATATATGTGTATATATGTGTATATATAT GTGTATATATGTGTATATATGTATATATGTGTATATATATGTATATATGT ATATATATATGTATATATGTGTATATATATATGTATATATATATATGTGT GTATATATATATATATATGTATATATATATATAATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG04228.hp1 HG01496.hp1 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0245 a0003c0003t0004g0246 a0003c0003t0004g0245 a0003c0003t0004g0246	2	426	0.0047	-243	c.169 others(15): Show c.169+456_169+698del	ZNF584	ENSG00000171574.19	transcript	ENST00000306910.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCG1_chr21_42214140_42302244	42283784	ACCCAGAT others(235): Show ACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCA AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCT GTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01975.hp1 HG02273.hp1 others(6): Show HG01069.hp1 HG01975.hp1 HG02273.hp1 HG03490.hp2 HG03492.hp2 HG04199.hp2 NA19003.hp1 NA19004.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012	a0001c0001t0002g0132 a0001c0001t0002g0164 a0001c0001t0002g0304 others(6): Show a0001c0001t0002g0132 a0001c0001t0002g0164 a0001c0001t0002g0304 a0001c0001t0003g0300 a0001c0001t0005g0040 a0001c0001t0006g0037 a0001c0001t0012g0140 a0001c0001t0012g0141 a0001c0001t0012g0307	9	354	0.0254	-242	c.735 others(15): Show c.735-667_735-426del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283958	CCCCCCCG others(235): Show CCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGAC AGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGT CCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCC CCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAG TGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	354	0.0028	-242	c.735 others(15): Show c.735-553_735-312del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP2_chr3_195269745_195448020	195394920	TTTTTTTT others(235): Show TTTTTTTTTTTTTTTTAAAGTAGGGGGTGGTAAAGACTAAATGAGGACTG TTCATATCATCAATCACAGTACATGACACAAAGAACAAAATCAATTCGCA GATGAATAGATGACTTCTATTCATTGAGATAGAACCATTCTGGGACATAT GTTTAAAAAACTAATAAGTGAAATAAAAGAATTTACCCAACAATCTTTCA AAATATTAAATGATAGATATTAATTCTCTGCAATCCTCCCCAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02109.hp1 HG02615.hp2 others(13): Show HG00408.hp1 HG02109.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18983.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0034 a0001c0001t0006 a0001c0001t0011 a0001c0001t0034	a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 others(13): Show a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0100 a0001c0001t0006g0313 a0001c0001t0011g0087 a0001c0001t0011g0088 a0001c0001t0011g0089 a0001c0001t0011g0090 a0001c0001t0011g0099 a0001c0001t0034g0020	16	324	0.0494	-242	c.54- others(15): Show c.54-3015_54-2774del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288403	CCGTGTCC others(235): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	295	0.0034	-242	c.49 others(11): Show c.4919_*5160del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3987		chr1	TogoVar
ADGRA1_chr10_133082924_133136675	133135548	GGTGGGGG others(235): Show GGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCC TGTAGGGGTTCTGGTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGT CCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGGGTCT CTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTG GTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00639.hp2 others(33): Show HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02486.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG03927.hp1 HG04228.hp1 NA18962.hp1 NA18970.hp2 NA18971.hp1 NA18999.hp2 NA19002.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0018	a0001c0001t0002 a0001c0003t0004 a0001c0003t0009 others(11): Show a0001c0001t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0015 a0001c0003t0026 a0001c0003t0041 a0001c0003t0042 a0001c0004t0004 a0001c0004t0009 a0001c0004t0015 a0001c0004t0032 a0001c0004t0056 a0001c0009t0004 a0001c0018t0004	a0001c0001t0002g0076 a0001c0003t0004g0001 a0001c0003t0004g0008 others(28): Show a0001c0001t0002g0076 a0001c0003t0004g0001 a0001c0003t0004g0008 a0001c0003t0004g0203 a0001c0003t0004g0205 a0001c0003t0004g0232 a0001c0003t0004g0233 a0001c0003t0004g0236 a0001c0003t0004g0238 a0001c0003t0004g0240 a0001c0003t0004g0244 a0001c0003t0009g0242 a0001c0003t0009g0295 a0001c0003t0009g0299 a0001c0003t0015g0059 a0001c0003t0015g0068 a0001c0003t0026g0224 a0001c0003t0026g0230 a0001c0003t0041g0026 a0001c0003t0042g0029 a0001c0004t0004g0007 a0001c0004t0004g0119 a0001c0004t0004g0148 a0001c0004t0004g0193 a0001c0004t0009g0281 a0001c0004t0009g0305 a0001c0004t0015g0142 a0001c0004t0032g0009 a0001c0004t0056g0312 a0001c0009t0004g0004 a0001c0018t0004g0237	36	368	0.0978	-242	c.60 others(11): Show c.6038_*6279del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		3874		chr10	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(235): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATA AATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTA TCATTTATAATATATAAATGTATCATTTATAATATATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01975.hp1 HG01981.hp2 others(14): Show HG01346.hp2 HG01975.hp1 HG01981.hp2 HG02080.hp2 HG02148.hp1 HG03688.hp2 NA18941.hp1 NA18950.hp2 NA18962.hp2 NA18987.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19070.hp1 NA19079.hp2 NA19087.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0028 a0001c0001t0031 a0001c0001t0052 a0001c0007t0001	a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 others(14): Show a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0299 a0001c0001t0006g0034 a0001c0001t0015g0176 a0001c0001t0028g0345 a0001c0001t0028g0346 a0001c0001t0031g0008 a0001c0001t0052g0344 a0001c0007t0001g0168	17	356	0.0478	-242	c.108 others(19): Show c.1085+3788_1085+4029del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
CA10_chr17_51625320_52163714	52095252	AAACAGGC others(235): Show AAACAGGCAAAACAAGTTCATAGTTATAAAGGTCAGAATATTTTTTTCCT CTATTGGGTGAGGGCGAAGGGTGTTGGTAATTGACTGGGAAGGGATGGGG GTGAACCTATGGAGTGATGAAAATGTTCCATATTTTGATTGGTGTGATAG TTATGTAGTATATACATGTGTAAAATTAATTCATCTGTACAATTAAGATT TGTGCATTTTATATGTTAATCTCAATTTAAAAAGCAAGTAATC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	156	0.0064	-242	c.62- others(17): Show c.62-23101_62-22860del	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882163	GGCGGGAT others(235): Show GGCGGGATGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGCC GCGGGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCCG GGGGGATGAATGGAAAGGTAATGCTCGGCGGGAGAATGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGG GGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01433.hp2 HG02257.hp1 others(5): Show HG00621.hp2 HG01433.hp2 HG02257.hp1 HG02486.hp2 HG02735.hp2 HG02922.hp1 HG03098.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004	a0001c0001t0006 a0001c0005t0004 a0001c0006t0005 others(1): Show a0001c0001t0006 a0001c0005t0004 a0001c0006t0005 a0002c0004t0001	a0001c0001t0006g0050 a0001c0005t0004g0014 a0001c0005t0004g0016 others(5): Show a0001c0001t0006g0050 a0001c0005t0004g0014 a0001c0005t0004g0016 a0001c0005t0004g0017 a0001c0005t0004g0018 a0001c0006t0005g0258 a0002c0004t0001g0044 a0002c0004t0001g0049	8	288	0.0278	-242	c.303 others(19): Show c.303+23717_303+23958del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar

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Search Results (Total: 10000 hits)