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
BRCA1_chr17_43039295_43130364	43100558	G G	GTATATAT others(102): Show GTATATATATATAACATATATATAACATATATATGTTATATATATATATA ACATATATATAACATATATATGTTATATATATATATAACATATATATAAC ATATATATGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0117 a0003c0003t0004g0117	1	276	0.0036	109	c.442 others(124): Show c.442-679_442-678insACATATATATGTTATATATATGTTATATAT ATATATAACATATATATGTTATATATATGTTATATATATATATAACATAT ATATGTTATATATATGTTATATATATATA	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100560	A A	ATATATAT others(102): Show ATATATATATAACATATATATAACATATATATATAATATATATATATAAC ATATATATAACATATATATATATTATATATATATATAACATATATATAAC ATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0165 a0003c0010t0002g0165	1	276	0.0036	109	c.442 others(124): Show c.442-681_442-680insATATATATATGTTATATATATGTTATATAT ATATATAATATATATATATGTTATATATATGTTATATATATATATTATAT ATATATGTTATATATATGTTATATATATA	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRSK1_chr19_55278997_55317562	55286041	G G	GGGGTCTG others(102): Show GGGGTCTGGAGTGCTGTGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAGTG CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAGTGCTGGGTCTGAGGG AGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02615.hp1 HG02818.hp2 HG00735.hp2 HG02615.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0003g0252 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0003g0252	3	338	0.0089	109	c.137 others(124): Show c.137-963_137-962insTCTGGAGTGCTGTGTCTGAGGGAGGAGGGG CTGGGGGCCTGGAGTGCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA GTGCTGGGTCTGAGGGAGGAGGGGCTGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BSG_chr19_567596_588493	570591	A A	AGGGGCGG others(102): Show AGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTGGGAGGGGCGGAGGGG CGGGTGGGGAGGGAGGGTTGGGAGGGGCGGAGGGGCGGGTGGGGGAGGGG CGGGTGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	306	0.0033	109	c.-20 others(120): Show c.-2044_-2043insGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTG GGAGGGGCGGAGGGGCGGGTGGGGAGGGAGGGTTGGGAGGGGCGGAGGGG CGGGTGGGGGAGGGGCGGGTGGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2004		chr19	TogoVar
BSG_chr19_567596_588493	570591	A A	AGGGGCGG others(102): Show AGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTGGGAGGGGCGGAGGGG CGGGTGGGGAGGGGAGGGTTGGGAGGGGCGGAGGGGCGGGTGGGGAGGGG CGGGTGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0003 a0001c0003t0008g0003	1	306	0.0033	109	c.-20 others(120): Show c.-2044_-2043insGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTG GGAGGGGCGGAGGGGCGGGTGGGGAGGGGAGGGTTGGGAGGGGCGGAGGG GCGGGTGGGGAGGGGCGGGTGGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2004		chr19	TogoVar
BSG_chr19_567596_588493	570591	A A	AGGGGCGG others(102): Show AGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTGGGAGGGGCGGAGGGG CGGGTGGGGAGGGGAGGGTTGGGAGGGGCGGAGGGGCGGGTGGGGGAGGG GCGGGTGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG04199.hp2 HG01516.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0056 a0001c0003t0004g0003 a0001c0003t0004g0056	2	306	0.0065	109	c.-20 others(120): Show c.-2044_-2043insGGGGCGGGTGGGGGAGGGGCGGAGGGGCGGGTTG GGAGGGGCGGAGGGGCGGGTGGGGAGGGGAGGGTTGGGAGGGGCGGAGGG GCGGGTGGGGGAGGGGCGGGTGGAG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		2004		chr19	TogoVar
C18orf63_chr18_74310839_74364189	74361915	T T	TATACATA others(102): Show TATACATAATATAATTAATATTATATATGCATATATTATATAATTTGTAA TATATGCATATATTATTAATTTATAATATATGCATATATTATATAATTTA TAATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG00738.hp1 others(20): Show HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01496.hp1 HG01516.hp2 HG01981.hp1 HG02486.hp2 HG03490.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18957.hp1 NA18965.hp2 NA18970.hp1 NA18988.hp1 NA18993.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0051 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0006g0001 a0001c0001t0006g0008 a0001c0001t0019g0163 a0001c0001t0031g0001 a0001c0001t0032g0049	23	372	0.0618	109	c.54 others(120): Show c.5468_*5469insATACATAATATAATTAATATTATATATGCATATA TTATATAATTTGTAATATATGCATATATTATTAATTTATAATATATGCAT ATATTATATAATTTATAATATATGC	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2727		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361936	T T	TTATATAC others(102): Show TTATATACGTATAATATAATTTATATTATATATGCATATATAATATAATT TATATTATATGCATATATAATATAATTTATAACATATGCATATATAATAT AATTTATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA19056.hp1 NA19060.hp1 NA18969.hp2 NA19056.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0005 a0001c0002t0010g0091 a0001c0002t0010g0095 a0001c0002t0003g0005 a0001c0002t0010g0091 a0001c0002t0010g0095	3	372	0.0081	109	c.54 others(120): Show c.5489_*5490insTATATACGTATAATATAATTTATATTATATATGC ATATATAATATAATTTATATTATATGCATATATAATATAATTTATAACAT ATGCATATATAATATAATTTATAAC	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2748		chr18	TogoVar
C1orf127_chr1_10941475_10987076	10981040	G G	GTGACATT others(102): Show GTGACATTCAGCTGGCCTGGGAGGGCTTCACTTCCCACTCTCAGGAGCTT TTTTAAAGGTATCTCTTAAAAATGCATCTCAGATGGGGAAAAGAGAGGTA GCAATTCTGT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	392	0.0026	109	c.26+ others(122): Show c.26+971_26+972insACAGAATTGCTACCTCTCTTTTCCCCATCTGA GATGCATTTTTAAGAGATACCTTTAAAAAAGCTCCTGAGAGTGGGAAGTG AAGCCCTCCCAGGCCAGCTGAATGTCA	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	1/12			chr1	TogoVar
CACNG6_chr19_53986637_54017666	53991078	A A	AGGCCCCA others(102): Show AGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(106): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18999.hp2 NA19010.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19082.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0044 a0001c0002t0003 a0001c0002t0019 a0001c0015t0003 a0002c0004t0001	a0001c0001t0002g0007 a0001c0001t0002g0228 a0001c0001t0002g0229 others(101): Show a0001c0001t0002g0007 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0337 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0119 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0184 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0212 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0329 a0001c0001t0003g0351 a0001c0001t0003g0408 a0001c0001t0005g0001 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0180 a0001c0001t0005g0192 a0001c0001t0005g0198 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0213 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0226 a0001c0001t0005g0230 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0360 a0001c0001t0010g0181 a0001c0001t0010g0186 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0010g0189 a0001c0001t0010g0190 a0001c0001t0010g0191 a0001c0001t0010g0210 a0001c0001t0010g0211 a0001c0001t0012g0082 a0001c0001t0012g0220 a0001c0001t0012g0221 a0001c0001t0012g0237 a0001c0001t0012g0238 a0001c0001t0013g0074 a0001c0001t0013g0075 a0001c0001t0013g0076 a0001c0001t0013g0077 a0001c0001t0015g0072 a0001c0001t0020g0263 a0001c0001t0024g0073 a0001c0001t0025g0183 a0001c0001t0028g0168 a0001c0001t0029g0227 a0001c0001t0031g0409 a0001c0001t0032g0001 a0001c0001t0044g0258 a0001c0002t0003g0241 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0274 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0019g0283 a0001c0002t0019g0284 a0001c0015t0003g0172 a0002c0004t0001g0334 a0002c0004t0001g0341 a0002c0004t0001g0342	109	430	0.2535	109	c.-18 others(120): Show c.-1800_-1799insGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC TCCTCCCTCAGACCCAGGAGCCCAG	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		558		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922581	T T	TCCCCAGG others(102): Show TCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGG AGCTGTCCCAGGCTGGTCATTGGTGGAGCTGTCCCCAGGCCTGGTATTGG TGGAGTTGTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	364	0.0028	109	c.424 others(126): Show c.424+7079_424+7080insCAGGTCTGGTCATTGGTGGACTTGCCCC AGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGAGCTGT CCCCAGGCCTGGTATTGGTGGAGTTGTCCCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923690	C C	CCTGGTCA others(102): Show CCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTC CCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGT TGCCCCAGGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18906.hp1 HG02896.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0051 a0001c0001t0016g0052 a0001c0001t0001g0051 a0001c0001t0016g0052	2	364	0.0055	109	c.424 others(126): Show c.424+8208_424+8209insCAGGCCTGGTCATTGGTGGAGTTGTCCC CAGGCCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTG CCCCAGGTCTGGTCATTGGTGGAGTTGTCCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991078	A A	AGGCCCCA others(102): Show AGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(106): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18999.hp2 NA19010.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp1 NA19082.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(32): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0079 a0001c0001t0089 a0001c0001t0090 a0001c0001t0092 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0106 a0001c0001t0107 a0001c0001t0121 a0001c0001t0135 a0001c0001t0140 a0001c0002t0011	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(89): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0172 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0005g0004 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0020 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0098 a0001c0001t0005g0103 a0001c0001t0005g0107 a0001c0001t0005g0140 a0001c0001t0005g0223 a0001c0001t0013g0025 a0001c0001t0013g0167 a0001c0001t0013g0168 a0001c0001t0013g0169 a0001c0001t0016g0007 a0001c0001t0016g0061 a0001c0001t0016g0072 a0001c0001t0016g0075 a0001c0001t0024g0047 a0001c0001t0024g0099 a0001c0001t0024g0115 a0001c0001t0025g0016 a0001c0001t0025g0117 a0001c0001t0026g0042 a0001c0001t0026g0266 a0001c0001t0028g0057 a0001c0001t0028g0058 a0001c0001t0028g0128 a0001c0001t0030g0182 a0001c0001t0030g0262 a0001c0001t0033g0007 a0001c0001t0033g0228 a0001c0001t0034g0074 a0001c0001t0034g0077 a0001c0001t0039g0024 a0001c0001t0040g0070 a0001c0001t0040g0145 a0001c0001t0041g0038 a0001c0001t0041g0136 a0001c0001t0042g0152 a0001c0001t0042g0263 a0001c0001t0043g0046 a0001c0001t0043g0189 a0001c0001t0053g0073 a0001c0001t0055g0110 a0001c0001t0056g0004 a0001c0001t0079g0031 a0001c0001t0089g0069 a0001c0001t0090g0081 a0001c0001t0092g0146 a0001c0001t0095g0043 a0001c0001t0096g0043 a0001c0001t0097g0144 a0001c0001t0099g0002 a0001c0001t0100g0031 a0001c0001t0102g0004 a0001c0001t0106g0171 a0001c0001t0107g0062 a0001c0001t0121g0059 a0001c0001t0135g0079 a0001c0001t0140g0203 a0001c0002t0011g0034	109	394	0.2767	109	c.82 others(120): Show c.8229_*8230insGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCC TCCTCCCTCAGACCCAGGAGCCCAG	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		864		chr19	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(102): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGGTC CCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGG GGTCCCGACG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0269 a0001c0004t0001g0269	1	410	0.0024	109	c.-13 others(126): Show c.-137+226_-137+227insGTCCCGACGGGGCCGTGGTCCTGTCGTG GGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGT CGTGGGAGGCGACGGTGAGGGCGGCCCGGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC171_chr9_15548043_15979037	15883017	C C	CCTTCCTT others(102): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTGGCTGCCTTCCTCCCCTCCCATCCC CTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02273.hp2 NA18946.hp1 others(3): Show HG01993.hp1 HG02273.hp2 NA18946.hp1 NA19003.hp2 NA19090.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0002 a0002c0002t0011	a0002c0002t0002g0070 a0002c0002t0002g0078 a0002c0002t0002g0085 others(3): Show a0002c0002t0002g0070 a0002c0002t0002g0078 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0135 a0002c0002t0011g0134	6	266	0.0226	109	c.360 others(128): Show c.3600+8356_3600+8357insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGGCT GCCTTCCTCCCCTCCCATCCCCTCCCCTCCTCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC30_chr1_42458286_42662190	42546395	A A	ATATATAT others(102): Show ATATATATATGTATATGTATATATATACACGTATATATATATGTATATAT ATACACGTATATATATATGTATATATATACACGTATATATATATGTATAT ATATACACGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03098.hp2 HG00733.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0014 a0002c0003t0003 a0002c0003t0014	a0002c0003t0003g0014 a0002c0003t0014g0009 a0002c0003t0003g0014 a0002c0003t0014g0009	2	324	0.0062	109	c.890 others(124): Show c.890+816_890+817insTATATATATGTATATGTATATATATACACG TATATATATATGTATATATATACACGTATATATATATGTATATATATACA CGTATATATATATGTATATATATACACGT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20			chr1	TogoVar
CCDC63_chr12_110841987_110912535	110905925	T T	TATATATT others(102): Show TATATATTATATATAATATATATTATATTATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG03540.hp2 HG02622.hp2 HG02896.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0184	3	288	0.0104	109	c.154 others(128): Show c.1546+1146_1546+1147insTAATATATATTATATTATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATATAAAATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC92B_chr17_2715801_2754652	2719777	G G	GGAAGAGA others(102): Show GGAAGAGATGGGTCCTTCCATCTGGGTCCTTCCTTTAGGAGAGAAGGAAG AGATGGGTCCTTCTTCAGGAGGGTTGCAAGCAAAGCCATTTTTTGCAAGC AAAGCCAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0283 a0001c0001t0072g0283	1	418	0.0024	109	c.46 others(120): Show c.4633_*4634insTTCTGGCTTTGCTTGCAAAAAATGGCTTTGCTTG CAACCCTCCTGAAGAAGGACCCATCTCTTCCTTCTCTCCTAAAGGAAGGA CCCAGATGGAAGGACCCATCTCTTC	CCDC92B	ENSG00000277200.2	transcript	ENST00000614400.2	protein_coding		1023		chr17	TogoVar
CCZ1B_chr7_6793937_6831275	6797861	A A	ATACACAC others(102): Show ATACACACACACACACACACACACACACACACACACACACACACATATAC ATACACACACACACACACATATATATATACACACACATATATATATACAC ACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0106 a0002c0003t0003g0106	1	354	0.0028	109	c.13 others(120): Show c.1362_*1363insGTGTGTGTGTGTGTATATATATATGTGTGTGTAT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1075		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(102): Show ATACACACACACACACACACACACACACACACACACACACACACATATAC ATACACACACACACACACATATATATACACACACATATATATATACACAC ACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0138 a0002c0003t0005g0138	1	354	0.0028	109	c.13 others(120): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(102): Show TTTAAATAGTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAA TAGTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATACTTT TAAATAAATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0331 a0001c0001t0002g0331	1	384	0.0026	109	c.125 others(126): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATACTAT TTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAAT AGTATTTAAATAGTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(102): Show TTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTTT TAAATAAATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	384	0.0052	109	c.125 others(126): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAAT AGTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD247_chr1_167425640_167523529	167435033	T T	TTCCTCCG others(102): Show TTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18970.hp1 HG02735.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0256 a0001c0001t0001g0073 a0001c0001t0001g0256	2	374	0.0054	109	c.336 others(124): Show c.336+365_336+366insGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGG AGGAAGGGCTGGAGGAGGGCTCCGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDH4_chr20_61247261_61945617	61283440	G G	GCGTGTGT others(102): Show GCGTGTGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGTGTGATGTGT GTGCGTTTGCACGCGTGTGCTGTGGTGTGTGATGTGTGTGCGTTTGCACG CGTGTGCTGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0015 a0004c0019t0001g0015	1	106	0.0094	109	c.169 others(128): Show c.169+28503_169+28504insCGTGTGTGATGTGTGTGCGTTTGCAC GCGTGTGCTGTGGTGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGTG TGTGATGTGTGTGCGTTTGCACGCGTGTGCTGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61283441	T T	CGTGTGTG others(102): Show CGTGTGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGTGTGATGTGTG TGCGTTTGCACGCGTGTGCTGTGGTGTGTGATGTGTGTGCGTTTGCACGC GTGTGCTGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0014 a0002c0002t0005g0014	1	106	0.0094	109	c.169 others(123): Show c.169+28504delTinsCGTGTGTGATGTGTGTGCGTTTGCACGCGTGT GCTGTGGTGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGTGTGTGAT GTGTGTGCGTTTGCACGCGTGTGCTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61283591	T T	TGTGTGAT others(102): Show TGTGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGTGTGTGATGTGTG TGCGTTTGCACGCGTGTGCTGTGGTGTGTGATGTGTGTGCGTTTGCACGT GTGTGCTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0043 a0001c0003t0036g0043	1	106	0.0094	109	c.169 others(128): Show c.169+28659_169+28660insATGTGTGTGCGTTTGCACGCGTGTGC TGTGGTGTGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGTGTGTGAT GTGTGTGCGTTTGCACGTGTGTGCTGTGGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61531383	A A	AAATCACT others(102): Show AAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCC ATTGCACTCCATCCAGCCTGCGTGACAGAGCAAGACTCCATCTCAAAAAA AGGCAGGGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0021 a0002c0004t0013g0021	1	106	0.0094	109	c.170 others(130): Show c.170-212143_170-212142insTGAGATCGTGCCATTGCACTCCAT CCAGCCTGCGTGACAGAGCAAGACTCCATCTCAAAAAAAGGCAGGGAGAA TCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(102): Show AAAAAAAAAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATAT GTATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAAT TTACTATAAT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	362	0.0028	109	c.478 others(126): Show c.478-1174_478-1173insAAAAAAAGATGGTCCTGAGTTGATAATT GAAACTGGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACT GTATGTGTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CERKL_chr2_181531672_181662105	181606418	G G	GGGGGAGG others(102): Show GGGGGAGGGGAGGGGAGAGGAGGGGGAGGGGAGGGGAGAGGAGGGGAGGG GAGAGGAGGGGAGGGGAGGGGGGAGGAGAGGGGAGGGGAGAGGAGGGGGA GGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	298	0.0034	109	c.239 others(126): Show c.239-2340_239-2339insTCCTCTCCCCTCCCCCTCCTCTCCCCTC CCCTCTCCTCCCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCCCC TCCCCTCCCCCTCCTCTCCCCTCCCCTCCCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CFAP46_chr10_132803392_132947570	132843730	G G	GGTGGGTG others(102): Show GGTGGGTGTTCCCAGGGTGCTGTGGGGCTCTGGTCTCAGTGGGTGTTCCC AGGGTGCTGTGGGGCTGCTCCTGGTGGGTGTTCCCAGGATGCTGTAAGGC TCTGGTCTCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0148 a0020c0017t0001g0148	1	246	0.0041	109	c.643 others(128): Show c.6438+2326_6438+2327insTGAGACCAGAGCCTTACAGCATCCTG GGAACACCCACCAGGAGCAGCCCCACAGCACCCTGGGAACACCCACTGAG ACCAGAGCCCCACAGCACCCTGGGAACACCCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57			chr10	TogoVar
CHST8_chr19_33616953_33778506	33760264	G G	GCCCTTTC others(102): Show GCCCTTTCTTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCTCTCTTTCTTTCTCTTTCTTTCCCTTTCCTCCCCTCC CTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02818.hp2 HG03017.hp2 HG01074.hp2 HG02818.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0199	3	254	0.0118	109	c.131 others(128): Show c.131-11144_131-11143insTCTTCCCTCCCTCTCTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTTTCTTTCTCTTTCT TTCCCTTTCCTCCCCTCCCTCCCTCCCTCCCTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLUAP1_chr16_3496004_3544048	3529451	T T	TTATATAT others(102): Show TTATATATAATATATATTATATTATATATTATATATAATATATATTATAT TATATATTATATATAATATATATTATATTATATATTATATATAATATATA TTATATTATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0292 a0002c0002t0002g0292	1	382	0.0026	109	c.929 others(126): Show c.929-1114_929-1113insATATAATATATATTATATTATATATTAT ATATAATATATATTATATTATATATTATATATAATATATATTATATTATA TATTATATATAATATATATTATATTATATAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLYBL_chr13_99601690_99897570	99644206	G G	GTATGTAT others(102): Show GTATGTATATGTGGTGTATGTATATGTGGTGTATGTATGTATATGTGGTG TATGTATGTATATGTGGTGTATGTATGTACATGTGTATGTATGTATATGT GGTGTATGTA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	218	0.0046	109	c.62+ others(126): Show c.62+37450_62+37451insATGTATATGTGGTGTATGTATATGTGGT GTATGTATGTATATGTGGTGTATGTATGTATATGTGGTGTATGTATGTAC ATGTGTATGTATGTATATGTGGTGTATGTAT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(102): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0063 a0002c0002t0063	a0002c0002t0063g0258 a0002c0002t0063g0258	1	268	0.0037	109	c.-46 others(128): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(102): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0019 a0001c0001t0038g0019	1	268	0.0037	109	c.-46 others(128): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899907	G G	GGAAGGAA others(102): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0160 a0002c0002t0058g0160	1	268	0.0037	109	c.-46 others(128): Show c.-46+13338_-46+13339insTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899907	G G	GGAAGGAA others(102): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0252 a0001c0001t0005g0252	1	268	0.0037	109	c.-46 others(128): Show c.-46+13338_-46+13339insTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNST_chr1_246561456_246673595	246669825	C C	CTCACGGG others(102): Show CTCACGGGGGTGGAAACCAGAGCTTCCCTGGTGTGTCACACACTATTAGA TGGTACTCACGAGGGTGGGACCAGAGCTTCCCTGGTGTGTCACACACTAT TAGATGCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01243.hp2 others(19): Show HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0001c0001t0016 a0002c0002t0006 others(1): Show a0001c0001t0004 a0001c0001t0016 a0002c0002t0006 a0003c0003t0004	a0001c0001t0004g0007 a0001c0001t0004g0016 a0001c0001t0004g0026 others(19): Show a0001c0001t0004g0007 a0001c0001t0004g0016 a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0134 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0275 a0001c0001t0016g0136 a0002c0002t0006g0029 a0002c0002t0006g0030 a0002c0002t0006g0031 a0003c0003t0004g0034 a0003c0003t0004g0035 a0003c0003t0004g0036 a0003c0003t0004g0162	22	320	0.0688	109	c.39 others(120): Show c.3920_*3921insTCACGGGGGTGGAAACCAGAGCTTCCCTGGTGTG TCACACACTATTAGATGGTACTCACGAGGGTGGGACCAGAGCTTCCCTGG TGTGTCACACACTATTAGATGCTAG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding		1231		chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	146712277	C C	CTATATAG others(102): Show CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATCTTATGTATACTATATAGTATACATATCT TATGTATACT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0002 a0001c0002t0010g0002	1	40	0.0250	109	c.98- others(126): Show c.98-61994_98-61993insTATATAGTATACATATCTTATGTATACT ATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTA TACTATATAGTATACATATCTTATGTATACT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45430101	G G	GCCCTCTC others(102): Show GCCCTCTCGTTGGGGACCCCCCCATCTCCCTAGCGCCCTCTCATCCTCTC CTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCTGT CTCCCTGGCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	292	0.0034	109	c.106 others(128): Show c.106+24649_106+24650insCATCTCCCTAGCGCCCTCTCATCCTC TCCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCT GTCTCCCTGGCACCCTCTCGTTGGGGACCCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921411	C C	CATATATA others(102): Show CATATATATCATATATATCATATCATATACATCATATATATCATATATAT CATATATCATATATATCATATATATCATATATCATATATATCATATATAT CATATATCAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp1 HG03453.hp1 others(1): Show HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03540.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0002c0004 a0002c0009 others(1): Show a0002c0003 a0002c0004 a0002c0009 a0008c0019	a0002c0003t0018 a0002c0004t0019 a0002c0009t0004 others(1): Show a0002c0003t0018 a0002c0004t0019 a0002c0009t0004 a0008c0019t0001	a0002c0003t0018g0138 a0002c0004t0019g0011 a0002c0009t0004g0067 others(1): Show a0002c0003t0018g0138 a0002c0004t0019g0011 a0002c0009t0004g0067 a0008c0019t0001g0106	4	182	0.0220	109	c.267 others(126): Show c.267-6492_267-6491insATCATATATATCATATCATATACATCAT ATATATCATATATATCATATATCATATATATCATATATATCATATATCAT ATATATCATATATATCATATATCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921411	C C	CATATATA others(102): Show CATATATATCATATATATCATATCATATACATCATATATATCATATATAT CATATATCATATATATCATATATCATATATATCATATATATCATATATAT CATATATCAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0107	1	182	0.0055	109	c.267 others(126): Show c.267-6492_267-6491insATCATATATATCATATCATATACATCAT ATATATCATATATATCATATATCATATATATCATATATCATATATATCAT ATATATCATATATATCATATATCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(102): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGTGTGAGGGTGAGGGTGAGGGTGAG GGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0271 a0001c0002t0002g0271	1	372	0.0027	109	c.52 others(120): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGTGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(102): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGTGTGAGGGTGAGGGTGAGGGTGAG GGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0268 a0001c0002t0002g0268	1	364	0.0028	109	c.21 others(120): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGTGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COLEC12_chr18_311737_505701	434920	T T	TCCCAAAA others(102): Show TCCCAAAAGTGCCCCACCTCGAGGCCATGCTCACAACATTTGCTCAGCTT GGAATATGCATCCTTTCAGCCTTGCCTGTTATCACAACAACTTTCCTGAC TTTGACCAGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0248 a0001c0005t0248	a0001c0005t0248g0357 a0001c0005t0248g0357	1	366	0.0027	109	c.58+ others(126): Show c.58+45786_58+45787insGCTGGTCAAAGTCAGGAAAGTTGTTGTG ATAACAGGCAAGGCTGAAAGGATGCATATTCCAAGCTGAGCAAATGTTGT GAGCATGGCCTCGAGGTGGGGCACTTTTGGG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(102): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTGTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTC TCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0344 a0001c0002t0001g0344	1	350	0.0029	109	c.510 others(128): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTGTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(102): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCT CCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	350	0.0029	109	c.510 others(128): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCGTCTCCTCTCTCCCCCTCCCCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGAAA others(102): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0253 a0002c0003t0001g0253	1	330	0.0030	109	c.735 others(124): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(102): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	330	0.0030	109	c.735 others(124): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(102): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18971.hp2 NA18939.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0179 a0001c0002t0001g0172 a0001c0002t0001g0179	2	330	0.0061	109	c.735 others(124): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar

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Search Results (Total: 10000 hits)