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
COL4A3_chr2_227159624_227319792	227202990	T T	TGTATATA others(97): Show TGTATATATACACATACATGTGTATATATACATATATGTGTATATATGTG TATATACACATATATGTGTATATATACATATATGTGTATATATGTGTATA TATAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	344	0.0029	104	c.88- others(121): Show c.88-34978_88-34977insGTATATATACACATACATGTGTATATAT ACATATATGTGTATATATGTGTATATACACATATATGTGTATATATACAT ATATGTGTATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202990	T T	TGTATATA others(97): Show TGTATATATACATATATGTGTATATATGTGTATATATACATATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02132.hp2 others(3): Show HG02040.hp1 HG02040.hp2 HG02132.hp2 HG02155.hp1 HG02602.hp1 NA18981.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0002 a0008c0009 a0001c0001 a0003c0002 a0008c0009	a0001c0001t0002 a0003c0002t0003 a0008c0009t0001 a0001c0001t0002 a0003c0002t0003 a0008c0009t0001	a0001c0001t0002g0082 a0001c0001t0002g0180 a0001c0001t0002g0236 others(3): Show a0001c0001t0002g0082 a0001c0001t0002g0180 a0001c0001t0002g0236 a0003c0002t0003g0171 a0003c0002t0003g0237 a0008c0009t0001g0275	6	344	0.0174	104	c.88- others(121): Show c.88-34978_88-34977insGTATATATACATATATGTGTATATATGT GTATATATACATATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134679639	G G	GGGGCACT others(97): Show GGGGCACTGCGGGGCTGGTTAGGGGGCACTTCAGGGCTGGTTGGGGGCAC TGCGGGGCTTCTTGGGGGCACTGTGGGGCTGGCTAGGGGCACTGTGGGGC TGGTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG04199.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0015 a0001c0002 a0001c0008 a0001c0015	a0001c0002t0001 a0001c0008t0003 a0001c0015t0052 a0001c0002t0001 a0001c0008t0003 a0001c0015t0052	a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0015t0052g0016 a0001c0002t0001g0018 a0001c0008t0003g0017 a0001c0015t0052g0016	3	272	0.0110	104	c.110 others(123): Show c.110-11254_110-11253insAGGGGGCACTTCAGGGCTGGTTGGGG GCACTGCGGGGCTTCTTGGGGGCACTGTGGGGCTGGCTAGGGGCACTGTG GGGCTGGTTGGGCACTGCGGGGCTGGTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45980594	C C	CCTCTCTG others(97): Show CCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTC TCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTCCGTCTCTGTCTGTCTCT CCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG03927.hp1 NA20805.hp1 HG00544.hp1 HG03927.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0002t0008 a0002c0008t0001 a0002c0002t0001 a0002c0002t0008 a0002c0008t0001	a0002c0002t0001g0055 a0002c0002t0008g0051 a0002c0008t0001g0077 a0002c0002t0001g0055 a0002c0002t0008g0051 a0002c0008t0001g0077	3	128	0.0234	104	c.-12 others(115): Show c.-1257_-1256insCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTGTCT CTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCTCTGTCTCTCCG TCTCTGTCTGTCTCTCCTCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1175		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTCCTCC others(97): Show CCTCCTCCTCCCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18522.hp1 NA19030.hp2 HG00735.hp1 NA18522.hp1 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0028 a0002c0003t0001g0033 a0002c0003t0001g0011 a0002c0003t0001g0028 a0002c0003t0001g0033	3	350	0.0086	104	c.510 others(123): Show c.510+23989_510+23990insCTCCCTCCCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCTCCGTCTCCTCTCTCTCCGTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158161	C C	CCTTCCCC others(97): Show CCTTCCCCTCCCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCT CTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTC TCCGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	350	0.0029	104	c.510 others(123): Show c.510+23985_510+23986insTCCCCTCCCTCCCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158354	C C	CCCCTCTC others(97): Show CCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCT CTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTC CCTCT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	350	0.0029	104	c.510 others(123): Show c.510+24180_510+24283dupTCTCTCCCTCTCCCCTCTCTCCCTCT CCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCT CTCTCCCTCTCCCCTCTCTCCCTCTCCC	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(97): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG01109.hp2 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0193 a0002c0003t0001g0254 a0002c0003t0001g0193 a0002c0003t0001g0254	2	330	0.0061	104	c.735 others(119): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(97): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAG AAAGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	330	0.0030	104	c.735 others(119): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40702821	A A	ACATCTGT others(97): Show ACATCTGTCCCTCTCCTGTCTCCCACGCAGCTCCTGCTCCTGCCTCTGAC CTGCATCTGTCCCTCTCCTGTCTCCCACGCAGCTCCTGCTCCTGCCTCTG ACCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp1 HG03486.hp2 HG01884.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235	3	410	0.0073	104	c.800 others(119): Show c.800-129_800-128insCAGGTCAGAGGCAGGAGCAGGAGCTGCGTG GGAGACAGGAGAGGGACAGATGCAGGTCAGAGGCAGGAGCAGGAGCTGCG TGGGAGACAGGAGAGGGACAGATG	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	9/14			chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702007	A A	AATATATT others(97): Show AATATATTTATAAATTATAAATAAATATATATTTATTTATAAATTATAAA TAAATATATATTTATTTATAAATTATAAATATATATTTATTTATAAATTA TAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	350	0.0029	104	c.693 others(119): Show c.693+383_693+384insAAATTATAAATAAATATATATTTATTTATA AATTATAAATAAATATATATTTATTTATAAATTATAAATATATATTTATT TATAAATTATAAATATATATTTAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPZ_chr4_8587765_8624752	8609046	C C	CACTCACC others(97): Show CACTCACCCATTCACTCCCTCCCTCCCTCACTCACCCATTCACTCCCTCA CTCATACACTCACCCATTCACTCCCTCACTCATACACTCACCCATTCACT CACGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0303 a0001c0012t0002g0303	1	442	0.0023	104	c.122 others(123): Show c.1227+1621_1227+1622insACTCACCCATTCACTCCCTCCCTCCC TCACTCACCCATTCACTCCCTCACTCATACACTCACCCATTCACTCCCTC ACTCATACACTCACCCATTCACTCACGT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10			chr4	TogoVar
CROCC2_chr2_240901336_240998311	240923782	G G	GGCCCCCA others(97): Show GGCCCCCACACTAACCCAGCCCCCACACTGACCCAGTCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTA ACCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(42): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02300.hp1 HG02683.hp2 HG02896.hp1 HG03579.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18971.hp2 NA18973.hp2 NA18981.hp1 NA18981.hp2 NA19012.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0008 others(7): Show a0001 a0002 a0008 a0011 a0016 a0017 a0026 a0040 a0041 a0060	a0001c0001 a0002c0002 a0002c0012 others(10): Show a0001c0001 a0002c0002 a0002c0012 a0002c0033 a0008c0008 a0011c0044 a0011c0045 a0016c0061 a0017c0063 a0026c0078 a0040c0057 a0041c0058 a0060c0093	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 a0002c0033t0002 a0008c0008t0002 a0011c0044t0002 a0011c0045t0002 a0016c0061t0002 a0017c0063t0004 a0026c0078t0004 a0040c0057t0002 a0041c0058t0002 a0060c0093t0001	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0095 others(42): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0191 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0280 a0001c0001t0002g0288 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0003g0196 a0001c0001t0004g0285 a0002c0002t0001g0083 a0002c0002t0001g0146 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0329 a0002c0002t0002g0333 a0002c0012t0002g0250 a0002c0012t0002g0292 a0002c0012t0002g0293 a0002c0012t0002g0294 a0002c0012t0002g0338 a0002c0033t0002g0291 a0008c0008t0002g0275 a0008c0008t0002g0281 a0008c0008t0002g0299 a0008c0008t0002g0300 a0011c0044t0002g0317 a0011c0045t0002g0320 a0016c0061t0002g0307 a0017c0063t0004g0310 a0026c0078t0004g0341 a0040c0057t0002g0335 a0041c0058t0002g0309 a0060c0093t0001g0054	45	350	0.1286	104	c.488 others(121): Show c.488+1165_488+1166insGACCCAGTCCCCACACTAACCCGGCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCACACTAACCCAGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923794	A A	AACCCAGC others(97): Show AACCCAGCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCA CACTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	350	0.0029	104	c.488 others(121): Show c.488+1165_488+1166insGACCCAGTCCCCACACTAACCCGGCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCACACTGACCCAGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923973	G G	GCCCCCAC others(97): Show GCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTAAC CCGGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02300.hp2 HG01952.hp2 HG02300.hp2	a0006 a0029 a0006 a0029	a0006c0007 a0029c0049 a0006c0007 a0029c0049	a0006c0007t0001 a0029c0049t0001 a0006c0007t0001 a0029c0049t0001	a0006c0007t0001g0194 a0029c0049t0001g0198 a0006c0007t0001g0194 a0029c0049t0001g0198	2	350	0.0057	104	c.488 others(121): Show c.488+1350_488+1351insACACTAACCCGGCCCCCCACACTAACCC GGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924098	C C	CCCCACAC others(97): Show CCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	350	0.0029	104	c.488 others(121): Show c.488+1456_488+1457insACACTAACCCAGTCCCCCACACTAACCC GGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924186	C C	CCCCACAC others(97): Show CCCCACACTAACCCGGCCCCCCACACTGACCCAGCCCCCACACTAACCCA GCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCCACACTGAC CCAGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0070 a0015c0016t0001g0070	1	350	0.0029	104	c.489 others(121): Show c.489-1535_489-1534insACACTAACCCGGCCCCCCACACTGACCC AGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCCACACTGACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924554	A A	AACACTAA others(97): Show AACACTAACCCGGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCAACAGTAACCCAGCCCCCCACACTAACCCAG CCCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0058 a0058	a0058c0027 a0058c0027	a0058c0027t0003 a0058c0027t0003	a0058c0027t0003g0026 a0058c0027t0003g0026	1	350	0.0029	104	c.489 others(121): Show c.489-1160_489-1159insGGTCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCAACAGTAACCCAGCCCCCCA CACTAACCCAGCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924757	C C	CAGTCCCC others(97): Show CAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAA CCCAGTCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCCAACACT AACCT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19009.hp1 NA18995.hp2 NA19009.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0004 a0008c0008t0002 a0001c0001t0004 a0008c0008t0002	a0001c0001t0004g0271 a0008c0008t0002g0266 a0001c0001t0004g0271 a0008c0008t0002g0266	2	350	0.0057	104	c.489 others(119): Show c.489-967_489-966insAGTCCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACAC TAATCCGGCCCCCAACACTAACCT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRPPA_chr7_16082525_16426538	16089460	T T	TGTATATA others(97): Show TGTATATATGTACGTACATATATACGGGTATATATGTACGTACATATATA CGGGTATATATGTACGTACATATATACGGGTATATATGTACGTACATATA TACGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp1 NA18972.hp2 NA19077.hp2 NA18966.hp1 NA18972.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0055 a0001c0001t0027 a0001c0001t0055	a0001c0001t0027g0031 a0001c0001t0027g0123 a0001c0001t0055g0184 a0001c0001t0027g0031 a0001c0001t0027g0123 a0001c0001t0055g0184	3	290	0.0103	104	c.22 others(115): Show c.2234_*2235insCCGTATATATGTACGTACATATATACCCGTATAT ATGTACGTACATATATACCCGTATATATGTACGTACATATATACCCGTAT ATATGTACGTACATATATAC	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	10/10	2234		chr7	TogoVar
CTXN3_chr5_127644082_127663630	127662759	C C	CAAAGAGT others(97): Show CAAAGAGTTATCTGGATCCTCTTGGGACATAGAGGTGACCTCAGAAAATA TACAATTAAGTATTTCAAGTTTGAAAGTACACTTTATCCTTTTCTGTCCT ATCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	472	0.0021	104	c.49 others(115): Show c.4992_*4993insAAAGAGTTATCTGGATCCTCTTGGGACATAGAGG TGACCTCAGAAAATATACAATTAAGTATTTCAAGTTTGAAAGTACACTTT ATCCTTTTCTGTCCTATCTT	CTXN3	ENSG00000205279.9	transcript	ENST00000379445.8	protein_coding		4130		chr5	TogoVar
CYLC1_chrX_83856146_83891698	83878340	T T	TATAAATA others(97): Show TATAAATATATAAATATATATAAATATATAAATATATATATATAAATATA TAAATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18948.hp1 HG03927.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0026 a0001c0001t0001g0032	2	208	0.0096	104	c.192 others(123): Show c.1923+3710_1923+3711insTAAATATATAAATATATATAAATATA TAAATATATATATATAAATATATAAATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATAAA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP1A1_chr15_74714542_74730528	74714561	G G	GTATATAT others(97): Show GTATATATTATATATGTGTATATATAATATATATTATATATGTGTATATA TAATATATATTATATATGTGTATATATAATATATATTATATATGTGTATA TATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	434	0.0023	104	c.59 others(115): Show c.5927_*5928insTTATATATACACATATATAATATATATTATATAT ACACATATATAATATATATTATATATACACATATATAATATATATTATAT ATACACATATATAATATATA	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		4980		chr15	TogoVar
CYP4F11_chr19_15907377_15939529	15912715	G G	GTGTGTGT others(97): Show GTGTGTGTGTGTGTGTATATGTATATATGTGTGTGTGTGTGTATATATAT ATGTGTGTGTGTGTGTATATATGTATATGTGTGTGTGTGTGTGTATATAT ATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0171 a0002c0001t0171	a0002c0001t0171g0342 a0002c0001t0171g0342	1	386	0.0026	104	c.10 others(115): Show c.1016_*1017insTATATATATATACACACACACACACACATATACA TATATACACACACACACACATATATATATACACACACACACACATATATA CATATACACACACACACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	1016		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912715	G G	GTGTGTGT others(97): Show GTGTGTGTGTGTGTGTATATGTATATATGTGTGTGTGTGTGTGTATATAT ATATGTGTGTGTGTGTGTATATATGTATATGTGTGTGTGTGTGTGTATAT ATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0156 a0002c0001t0156	a0002c0001t0156g0346 a0002c0001t0156g0346	1	386	0.0026	104	c.10 others(115): Show c.1016_*1017insTATATATATACACACACACACACACATATACATA TATACACACACACACACATATATATATACACACACACACACACATATATA CATATACACACACACACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	1016		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912771	G G	GTATATAT others(97): Show GTATATATGTATATGTGTGTGTGTGTGTGTATATATATATATGTGTGTGT GTGTGTATATATGTATATATGTGTGTGTGTGTGTGTATGTATGTGTATAT ATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0186 a0002c0001t0186	a0002c0001t0186g0359 a0002c0001t0186g0359	1	386	0.0026	104	c.96 others(113): Show c.960_*961insTATATATATACACATACATACACACACACACACACA TATATACATATATACACACACACACACATATATATATATACACACACACA CACACATATACATATATA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	960		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932825	G G	GAGAGGAA others(97): Show GAGAGGAATGAGTGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0032 a0002c0001t0032	a0002c0001t0032g0012 a0002c0001t0032g0012	1	386	0.0026	104	c.198 others(121): Show c.198+1385_198+1386insGCTCACTCACTCATTCCTCTCCTCACTC ACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCT CTCCCCGCTCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650713	T T	TTTCTTTT others(97): Show TTTCTTTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTT CTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTCTCTTCTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0373 a0001c0002t0001g0373	1	424	0.0024	104	c.918 others(119): Show c.918+536_918+537insTCCTTCCTTCCATCTTTCTTTCTTTCTTTT TCTTTCGTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTCTCTCTTC TCTTTCTTTCTTTCTTTCTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYRIB_chr8_129834593_130021560	130006594	T T	TTATATAT others(97): Show TTATATATATATATATATACACACATATATATGTATATATATATACACAT ATATATGTATATATATACACATATATATATGTGTATATATATACATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	288	0.0035	104	c.-19 others(123): Show c.-190+9775_-190+9776insCACATATATATGTATATATATACACA TATATATATGTGTATATATATACATATATATGTGTATATATATATACATA TATATGTGTGTATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	130006594	T T	TTATATAT others(97): Show TTATATATATATATATATATACACATATATATGTATATATATATACACAT ATATATGTATATATATACACATATATATATGTGTATATATATACATATAT ATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp2 others(22): Show HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00621.hp1 HG00738.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01978.hp2 HG02004.hp1 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG03098.hp2 HG04228.hp1 NA18906.hp2 NA18956.hp2 NA18995.hp1 NA19002.hp1 NA19011.hp2 NA19054.hp1 NA19063.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0022	a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0001g0100 others(22): Show a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0202 a0001c0001t0002g0072 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0141 a0001c0001t0003g0104 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0012g0124 a0001c0001t0022g0226	25	288	0.0868	104	c.-19 others(123): Show c.-190+9775_-190+9776insCACATATATATGTATATATATACACA TATATATATGTGTATATATATACATATATATGTGTATATATATATACATA TATATGTGTATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13			chr8	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(97): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGC GCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00741.hp1 others(16): Show HG00408.hp2 HG00558.hp2 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01891.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp1 NA18987.hp1 NA19012.hp2 NA19043.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0006 a0001c0013 others(4): Show a0001c0001 a0001c0006 a0001c0013 a0002c0003 a0004c0008 a0005c0007 a0006c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0006t0003 a0001c0013t0002 a0002c0003t0001 a0004c0008t0002 a0005c0007t0001 a0006c0011t0001	a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0327 others(16): Show a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0347 a0001c0001t0005g0351 a0001c0001t0005g0357 a0001c0001t0006g0373 a0001c0006t0003g0178 a0001c0013t0002g0177 a0002c0003t0001g0013 a0002c0003t0001g0024 a0002c0003t0001g0057 a0002c0003t0001g0061 a0002c0003t0001g0064 a0002c0003t0001g0065 a0004c0008t0002g0185 a0005c0007t0001g0022 a0006c0011t0001g0200 a0006c0011t0001g0270	19	380	0.0500	104	c.121 others(121): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DCC_chr18_52335197_53540899	52927168	T T	TGTATATA others(97): Show TGTATATATACGTATATACGTGTATATATACGTATATACGTGTATATATA CGTGTATACGTGTATATACGTATATATACGTATATGTGTATATATGTGTA TATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0112 a0001c0002t0033g0112	1	114	0.0088	104	c.985 others(121): Show c.985+1806_985+1807insACGTATATACGTGTATATATACGTATAT ACGTGTATATATACGTGTATACGTGTATATACGTATATATACGTATATGT GTATATATGTGTATATACGTATATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52927168	T T	TGTGTATA others(97): Show TGTGTATATACGTATATACGTGTATATATACGTATATACGTGTATATATA CGTATATACGTGTATATACGTATATATACGTATATGTGTATATATGTGTA TATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0013 a0001c0003t0008g0013	1	114	0.0088	104	c.985 others(121): Show c.985+1800_985+1801insGTATATACGTATATACGTGTATATATAC GTATATACGTGTATATATACGTATATACGTGTATATACGTATATATACGT ATATGTGTATATATGTGTATATACGT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24220871	A A	AGAGAGAC others(97): Show AGAGAGACAGAGAGCGAGAGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTG AGCGAGAGAGTGAGCGAGCGAGCGAGAGAGTGAGCGAGAGAGTGAGCGAG CGAGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG03098.hp2 others(3): Show HG01255.hp2 HG01361.hp2 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0007 a0003c0003 a0004c0007	a0003c0003t0002 a0004c0007t0021 a0003c0003t0002 a0004c0007t0021	a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 others(3): Show a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0085 a0003c0003t0002g0149 a0004c0007t0021g0031	6	216	0.0278	104	c.923 others(123): Show c.923-15770_923-15769insGCTCGCTCGCTCACTCTCTCGCTCAC TCTCTCGCTCGCTCGCTCACTCTCTCGCTCACTCTCTCGCTCGCTCGCTC ACTCTCTCGCTCTCGCTCTCTGTCTCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX51_chr12_132131594_132149319	132135249	C C	CCCGAGTG others(97): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCC CACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	104	c.40 others(115): Show c.4022_*4023insAGGTGGGAGGAGGGGCACCGTGGGCACACTCGGG GAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCG GGCACCGTGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1344		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136230	A A	ACCTCCCG others(97): Show ACCTCCCGAGTGTGCCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCGCTCCTCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	104	c.30 others(115): Show c.3041_*3042insGTGAGGAGCGGGCACCGTGGGCACACTCGGGAGG TGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCA CCGGGGGCACACTCGGGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		363		chr12	TogoVar
DEAF1_chr11_639233_700222	641870	G G	GTGGAGAG others(97): Show GTGGAGAGAGGACCAAGCCCAATTACTACTTTAGTGCGGCTGCCCCGTCC CGTCTGGTGACCACGCACTTCTGTGATGGCCTCAGCGGCTGCCTCCTCCA GGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	345	0.0029	104	c.26 others(115): Show c.2679_*2680insTGTCCTGGAGGAGGCAGCCGCTGAGGCCATCACA GAAGTGCGTGGTCACCAGACGGGACGGGGCAGCCGCACTAAAGTAGTAAT TGGGCTTGGTCCTCTCTCCA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		2362		chr11	TogoVar
DEF8_chr16_89943755_89973060	89946770	C C	CGAGCCAG others(97): Show CGAGCCAGGAGGTGAAGGTGGGGGTGGGGGTGGGCCTGGCCTGTTGGGGA GAGGAGCCAGGAGGTGAAGGTAGGGGTGGGGGTGGGCCTGGCCTGTTGGG GAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0020g0064 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0020g0064	3	392	0.0077	104	c.-21 others(115): Show c.-2152_-2151insGAGCCAGGAGGTGAAGGTGGGGGTGGGGGTGGGC CTGGCCTGTTGGGGAGAGGAGCCAGGAGGTGAAGGTAGGGGTGGGGGTGG GCCTGGCCTGTTGGGGAGAG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding		1984		chr16	TogoVar
DEF8_chr16_89943755_89973060	89946789	G G	GGGGGTGG others(97): Show GGGGGTGGGGGTGGGCCTGGCCTGTTGGGGAGAGGAGCCAGGAGGTGAAG GTAGGGGTGGGGGTGGGCCTGGCCTGTTGGGGAGAGGAGCCAGGAGGTGA AGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	392	0.0026	104	c.-21 others(115): Show c.-2133_-2132insGGGGTGGGGGTGGGCCTGGCCTGTTGGGGAGAGG AGCCAGGAGGTGAAGGTAGGGGTGGGGGTGGGCCTGGCCTGTTGGGGAGA GGAGCCAGGAGGTGAAGGTA	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding		1965		chr16	TogoVar
DEPDC1B_chr5_60591912_60705166	60667360	T T	TAAAATGG others(97): Show TAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATATA CAAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATA TACAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	292	0.0034	104	c.314 others(123): Show c.314+19498_314+19601dupTTGTATATATGTAAAATATCCATTTT TTGTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCCATT TTTTGTATATATGTAAAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60667514	C C	CAAAAAAT others(97): Show CAAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATA TACAAAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATA TATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	292	0.0069	104	c.314 others(123): Show c.314+19447_314+19448insATATATATGTAAAATATCCATTTTTT GTATATATGTAAAATATCCATTTTTTGTATATATGTAAAATATCCATTTT TTGTATATATGTAAAATATCCATTTTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60667708	T T	TAAAATGG others(97): Show TAAAATGGATATTTTACATATATATAAAAAATGGATATTTTACATATATA TAAAAAATGGATATTTTACATATATATAAAAAATGGATATTTTACATATA TATAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	292	0.0034	104	c.314 others(123): Show c.314+19150_314+19253dupTTATATATATGTAAAATATCCATTTT TTATATATATGTAAAATATCCATTTTTTATATATATGTAAAATATCCATT TTTTATATATATGTAAAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60667903	T T	TTACATAT others(97): Show TTACATATATATAAAAAATGGATATTTTATATATATAAAAAATGGATATT TTATATATATATAAAAAATGGATATTTTATATATATATAAAAAATGGATA TTTTA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	292	0.0034	104	c.314 others(123): Show c.314+19058_314+19059insTAAAATATCCATTTTTTATATATATA TAAAATATCCATTTTTTATATATATATAAAATATCCATTTTTTATATATA TAAAATATCCATTTTTTATATATATGTA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGAT1_chr8_144309584_144331852	144313723	G G	GCCCCGCC others(97): Show GCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCC CCGCACCGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGC CGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	104	c.28 others(115): Show c.2830_*2831insAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGG CGGTGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGGGCGGGGAGGCGG GGAGGCGCGGGGAGGCGGGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		860		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313723	G G	GCCCCGCC others(97): Show GCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCC CCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGC CGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 NA18995.hp2 NA20129.hp1 HG01516.hp2 NA18995.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0048 a0001c0001t0007g0014 a0001c0001t0011g0015 a0001c0001t0001g0048 a0001c0001t0007g0014 a0001c0001t0011g0015	3	370	0.0081	104	c.28 others(115): Show c.2830_*2831insAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGG CGGCGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGGGCGGGGAGGCGG GGAGGCGCGGGGAGGCGGGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		860		chr8	TogoVar
DGKG_chr3_186142201_186367234	186355194	A A	ATACCACC others(97): Show ATACCACCACCAACACCACTATCGTCAACTCCCCACACAACTACCATCAC CGCTACCACCACCAACACCACTATCGTCAACTCCCCACACAACTACCATC ACCGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 NA19043.hp1 others(1): Show HG02486.hp2 HG02809.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0018 others(1): Show a0001c0002 a0001c0003 a0001c0018 a0002c0001	a0001c0002t0043 a0001c0003t0003 a0001c0018t0008 others(1): Show a0001c0002t0043 a0001c0003t0003 a0001c0018t0008 a0002c0001t0003	a0001c0002t0043g0183 a0001c0003t0003g0168 a0001c0018t0008g0218 others(1): Show a0001c0002t0043g0183 a0001c0003t0003g0168 a0001c0018t0008g0218 a0002c0001t0003g0219	4	234	0.0171	104	c.-24 others(123): Show c.-249+6751_-249+6752insGCGGTGATGGTAGTTGTGTGGGGAGT TGACGATAGTGGTGTTGGTGGTGGTAGCGGTGATGGTAGTTGTGTGGGGA GTTGACGATAGTGGTGTTGGTGGTGGTA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186355203	C C	CCAACACC others(97): Show CCAACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCTACCAC CACCAACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCTACC ACCAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00741.hp1 others(54): Show HG00438.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp1 HG01168.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01884.hp2 HG01993.hp2 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp2 NA19068.hp1 NA19068.hp2 NA19086.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0003 a0001c0009 others(7): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0005 a0002c0019 a0003c0004 a0003c0006 a0004c0007 a0005c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(29): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0014 a0001c0003t0006 a0001c0003t0045 a0001c0009t0007 a0001c0009t0011 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0006 a0002c0001t0011 a0002c0001t0016 a0002c0001t0026 a0002c0001t0028 a0002c0005t0002 a0002c0019t0011 a0003c0004t0001 a0003c0004t0004 a0003c0004t0005 a0003c0004t0009 a0003c0004t0013 a0003c0004t0029 a0003c0004t0041 a0003c0006t0001 a0004c0007t0001 a0004c0007t0006 a0005c0014t0035	a0001c0002t0001g0050 a0001c0002t0001g0134 a0001c0002t0001g0136 others(54): Show a0001c0002t0001g0050 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0002g0084 a0001c0002t0002g0091 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0003g0195 a0001c0002t0004g0120 a0001c0002t0006g0142 a0001c0002t0006g0143 a0001c0002t0014g0194 a0001c0003t0006g0132 a0001c0003t0045g0231 a0001c0009t0007g0141 a0001c0009t0011g0230 a0002c0001t0001g0003 a0002c0001t0001g0112 a0002c0001t0001g0121 a0002c0001t0001g0127 a0002c0001t0001g0130 a0002c0001t0001g0147 a0002c0001t0001g0151 a0002c0001t0002g0006 a0002c0001t0002g0007 a0002c0001t0002g0123 a0002c0001t0002g0148 a0002c0001t0003g0226 a0002c0001t0005g0107 a0002c0001t0005g0129 a0002c0001t0005g0131 a0002c0001t0006g0133 a0002c0001t0011g0229 a0002c0001t0016g0169 a0002c0001t0016g0170 a0002c0001t0026g0140 a0002c0001t0028g0051 a0002c0005t0002g0152 a0002c0019t0011g0171 a0003c0004t0001g0090 a0003c0004t0001g0092 a0003c0004t0001g0117 a0003c0004t0004g0128 a0003c0004t0004g0146 a0003c0004t0005g0159 a0003c0004t0009g0193 a0003c0004t0013g0119 a0003c0004t0013g0124 a0003c0004t0029g0016 a0003c0004t0041g0216 a0003c0006t0001g0125 a0003c0006t0001g0144 a0004c0007t0001g0118 a0004c0007t0006g0160 a0005c0014t0035g0093	57	234	0.2436	104	c.-24 others(123): Show c.-249+6742_-249+6743insTTGGTGGTAGCGGTGATGGTAGTTGT GTGGGGAGTTGACGATAGTGGTGTTGGTGGTGGTAGCGGTGATGGTAGTT GTGTGGGGAGTTGACGATAGTGGTGTTG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186355206	A A	ACACCACT others(97): Show ACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCTACCACCAC CAACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCTACCACC AACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0019 a0002c0005t0004g0019	1	234	0.0043	104	c.-24 others(123): Show c.-249+6739_-249+6740insGTGTTGGTGGTAGCGGTGATGGTAGT TGTGTGGGGAGTTGACGATAGTGGTGTTGGTGGTGGTAGCGGTGATGGTA GTTGTGTGGGGAGTTGACGATAGTGGTG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DHX8_chr17_43478975_43530670	43489542	T T	TATGTGGA others(97): Show TATGTGGAGAAGATAATCTGTAGATATTAATGTTTTAATTTATGTTTGTT TGTTTGTTTGTTTTTTTGAGACAGAGTTTTGCTCTGTCGCCTGGGCTGGA GTGCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp2 HG02895.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0262 a0001c0001t0012g0105 a0001c0001t0008g0262 a0001c0001t0012g0105	2	354	0.0057	104	c.234 others(117): Show c.234+66_234+67insGTTTTTTTGAGACAGAGTTTTGCTCTGTCGCC TGGGCTGGAGTGCAATGTGGAGAAGATAATCTGTAGATATTAATGTTTTA ATTTATGTTTGTTTGTTTGTTT	DHX8	ENSG00000067596.12	transcript	ENST00000262415.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIP2B_chr12_50499985_50753657	50598846	C C	CTCCCCCT others(97): Show CTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCTC CCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	284	0.0035	104	c.101 others(123): Show c.101-27130_101-27129insTCCCCCTCCCCTCTCCCCCTCTCCCC CTCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCCTCCCCCT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar

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Search Results (Total: 10000 hits)