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
CNOT3_chr19_54132762_54160681	54133953	C C	CCTCCCTC others(98): Show CCTCCCTCCCTCTCCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCC ACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCCTTCCCTCTCTCCACCTC CCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	223	0.0045	105	c.-40 others(116): Show c.-4091_-4090insCTCCCTCCCTCTCCCACCTTCCCTCTCTCCACCT CCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCCTT CCCTCTCTCCACCTCCCCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3808		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(98): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	268	0.0037	105	c.-46 others(124): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(98): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	268	0.0037	105	c.-46 others(124): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899907	G G	GGAAGGAA others(98): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAGAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	268	0.0037	105	c.-46 others(124): Show c.-46+13338_-46+13339insTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL22A1_chr8_138583235_138919041	138743351	T T	TTGATGGT others(98): Show TTGATGGTGATGGTGATGGTAGAGTTGATGATGGTAGTAGTGATTGTGAT GGTGGAGTTGATGGTGATGGTGGTAGTGACTGTGATGGTGATGGTGGAGT TGATGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01261.hp1 others(33): Show HG00280.hp2 HG01081.hp1 HG01261.hp1 HG01981.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp2 HG03688.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0015	a0001c0002 a0001c0006 a0001c0008 others(21): Show a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0026 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0009 a0002c0023 a0002c0025 a0003c0013 a0003c0020 a0003c0031 a0004c0019 a0004c0041 a0008c0055 a0015c0039	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(30): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0012t0010 a0001c0014t0004 a0001c0014t0011 a0001c0015t0001 a0001c0016t0001 a0001c0017t0005 a0001c0026t0001 a0002c0003t0001 a0002c0003t0007 a0002c0004t0002 a0002c0004t0004 a0002c0004t0008 a0002c0005t0002 a0002c0005t0009 a0002c0007t0008 a0002c0009t0002 a0002c0023t0001 a0002c0025t0003 a0003c0013t0003 a0003c0020t0007 a0003c0031t0004 a0004c0019t0001 a0004c0041t0002 a0008c0055t0005 a0015c0039t0001	a0001c0002t0001g0069 a0001c0002t0002g0029 a0001c0002t0002g0043 others(33): Show a0001c0002t0001g0069 a0001c0002t0002g0029 a0001c0002t0002g0043 a0001c0002t0003g0009 a0001c0002t0005g0151 a0001c0006t0002g0064 a0001c0008t0001g0041 a0001c0008t0002g0026 a0001c0010t0001g0128 a0001c0012t0010g0012 a0001c0014t0004g0018 a0001c0014t0011g0091 a0001c0015t0001g0077 a0001c0016t0001g0097 a0001c0017t0005g0149 a0001c0026t0001g0061 a0002c0003t0001g0084 a0002c0003t0007g0157 a0002c0004t0002g0088 a0002c0004t0004g0094 a0002c0004t0008g0023 a0002c0004t0008g0099 a0002c0005t0002g0047 a0002c0005t0002g0092 a0002c0005t0009g0135 a0002c0007t0008g0030 a0002c0009t0002g0089 a0002c0023t0001g0036 a0002c0025t0003g0013 a0003c0013t0003g0002 a0003c0020t0007g0150 a0003c0031t0004g0031 a0004c0019t0001g0130 a0004c0041t0002g0042 a0008c0055t0005g0148 a0015c0039t0001g0134	36	158	0.2279	105	c.208 others(124): Show c.2086-5775_2086-5774insCCATCAACTCCACCATCACCATCACA GTCACTACCACCATCACCATCAACTCCACCATCACAATCACTACTACCAT CATCAACTCTACCATCACCATCACCATCA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL3A1_chr2_188969373_189017746	188997014	T T	TATATATA others(98): Show TATATATATATGAGACATATATATATGAGACATATATATATGAGACATAT ATATATGAGACATATATATATGAGACATATATATATGAGACATATATATA TGAGAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp1 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0039 a0001c0001t0001g0040	2	376	0.0053	105	c.176 others(120): Show c.1762-60_1762-59insTATATATATGAGACATATATATATGAGACA TATATATATGAGACATATATATATGAGACATATATATATGAGACATATAT ATATGAGACATATATATATGAGACA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A2_chr13_110302284_110518209	110355747	G G	GGGGAGGG others(98): Show GGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGGAGGGCTGCAGTA GCTCACCTGTGTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0169 a0003c0007t0005g0169	1	372	0.0027	105	c.100 others(122): Show c.100-1723_100-1722insGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355747	G G	GGGGAGGG others(98): Show GGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGGAGGGCTGCAGTA GCTCACCTGTGTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0020 a0003c0007t0020	a0003c0007t0020g0120 a0003c0007t0020g0120	1	372	0.0027	105	c.100 others(122): Show c.100-1723_100-1722insGAGGGCTGCAGTAGCTCACCTGTGTGTG TGGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134679639	G G	GGGGCACT others(98): Show GGGGCACTGCGGGGCTGGTTAGGGGGCACTTCAGGGCTGGTTGGGGGCAC TGCGGGGCTTCTTAGGGGGCACTGCGGGGCTGGTTGGGGGCACTGTGGGG CTGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(27): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG01074.hp2 HG01257.hp1 HG01433.hp1 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02735.hp2 HG03098.hp2 HG03710.hp1 NA18943.hp1 NA18950.hp2 NA18971.hp2 NA18986.hp1 NA19005.hp2 NA19009.hp2 NA19064.hp2 NA19070.hp2 NA20805.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0001c0027 a0001c0036 a0002c0017 a0010c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0003t0001 a0001c0003t0036 a0001c0004t0002 a0001c0004t0033 a0001c0015t0002 a0001c0027t0001 a0001c0036t0035 a0002c0017t0003 a0010c0037t0001	a0001c0001t0001g0041 a0001c0001t0002g0111 a0001c0001t0002g0122 others(27): Show a0001c0001t0001g0041 a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0220 a0001c0001t0003g0133 a0001c0001t0005g0055 a0001c0001t0005g0119 a0001c0001t0037g0053 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0221 a0001c0002t0001g0252 a0001c0002t0002g0056 a0001c0002t0002g0124 a0001c0002t0002g0171 a0001c0002t0005g0059 a0001c0002t0005g0117 a0001c0002t0016g0237 a0001c0003t0001g0123 a0001c0003t0001g0222 a0001c0003t0036g0051 a0001c0004t0002g0046 a0001c0004t0002g0052 a0001c0004t0002g0132 a0001c0004t0033g0131 a0001c0015t0002g0054 a0001c0027t0001g0130 a0001c0036t0035g0045 a0002c0017t0003g0118 a0010c0037t0001g0057	30	272	0.1103	105	c.110 others(124): Show c.110-11254_110-11253insAGGGGGCACTTCAGGGCTGGTTGGGG GCACTGCGGGGCTTCTTAGGGGGCACTGCGGGGCTGGTTGGGGGCACTGT GGGGCTGGTTGGGCACTGCGGGGCTGGTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46137848	46135886	C C	CCCCTCCC others(98): Show CCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCCAGCCTCCCCTCCCAG CATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCC AGCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0253 a0001c0009t0001g0253	1	364	0.0028	105	c.33 others(116): Show c.3334_*3335insCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCC AGCCTCCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTC CCAGCATTCCCTCCCAGCATT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3039		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158485	C C	CTCTCCTC others(98): Show CTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCCCCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	350	0.0029	105	c.510 others(124): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCCCCGTCTCCTCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158485	C C	CTCTCCTC others(98): Show CTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCTCCG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	350	0.0029	105	c.510 others(124): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(98): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	330	0.0030	105	c.735 others(120): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCCGTG others(98): Show CCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCAGCCACAGATACATGGCCCCCCGTGTCACCCACAGAT ACACGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0307 a0002c0004t0002g0307	1	348	0.0029	105	c.928 others(120): Show c.928-724_928-723insGTGTCAGCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACATGGCCCCCC GTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	ACCCACAG others(98): Show ACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAA ACACGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01258.hp1 others(2): Show HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01943.hp2 HG02293.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0314 a0002c0004t0002g0001 a0002c0004t0002g0314	5	348	0.0144	105	c.928 others(120): Show c.928-544_928-543insACAGATACACGGCCCCCGTGTCAGCCACAG ATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGAAACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRIM1_chr2_36350778_36556135	36543702	T T	TAAAAAGA others(98): Show TAAAAAGACCTCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0010 a0001c0002t0029g0010	1	324	0.0031	105	c.262 others(122): Show c.2624-664_2624-663insCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGACCT	CRIM1	ENSG00000150938.10	transcript	ENST00000280527.7	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRLF2_chrX_1185490_1217649	1187338	C C	CAACTGTT others(98): Show CAACTGTTGAGTAGCGATCATTTGTTTCTGCGTTAATTCTTTTTTTAGTG TGTAATTTTTTTTTTTTTTTTTTTTAGGGGTAGTCTCACTCTGTCGCCCA GGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0047 a0002c0004t0001g0047	1	167	0.0060	105	c.35 others(116): Show c.3558_*3559insCCAGCCTGGGCGACAGAGTGAGACTACCCCTAAA AAAAAAAAAAAAAAAAATTACACACTAAAAAAAGAATTAACGCAGAAACA AATGATCGCTACTCAACAGTT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		3151		chrX	TogoVar
CROCC2_chr2_240901336_240998311	240923662	T T	TCCCCCAC others(98): Show TCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCC AGTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGAC CCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(35): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02300.hp1 NA18612.hp1 NA18747.hp2 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	a0001 a0002 a0008 others(6): Show a0001 a0002 a0008 a0011 a0016 a0017 a0040 a0041 a0060	a0001c0001 a0002c0002 a0002c0012 others(8): Show a0001c0001 a0002c0002 a0002c0012 a0008c0008 a0011c0044 a0011c0045 a0016c0061 a0017c0063 a0040c0057 a0041c0058 a0060c0093	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 a0008c0008t0002 a0011c0044t0002 a0011c0045t0002 a0016c0061t0002 a0017c0063t0004 a0040c0057t0002 a0041c0058t0002 a0060c0093t0001	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0095 others(35): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0191 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0280 a0001c0001t0002g0288 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0003g0196 a0001c0001t0004g0285 a0002c0002t0001g0083 a0002c0002t0002g0249 a0002c0002t0002g0278 a0002c0002t0002g0325 a0002c0002t0002g0329 a0002c0002t0002g0333 a0002c0012t0002g0292 a0002c0012t0002g0293 a0002c0012t0002g0294 a0002c0012t0002g0338 a0008c0008t0002g0275 a0008c0008t0002g0281 a0011c0044t0002g0317 a0011c0045t0002g0320 a0016c0061t0002g0307 a0017c0063t0004g0310 a0040c0057t0002g0335 a0041c0058t0002g0309 a0060c0093t0001g0054	38	350	0.1086	105	c.488 others(122): Show c.488+1021_488+1022insCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTGAC CCGGCCCCCACACTGACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923749	G G	GCCCCCAC others(98): Show GCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAA CCCGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0296 a0008c0008t0002g0296	1	350	0.0029	105	c.488 others(122): Show c.488+1104_488+1105insCCCCCACACTGACCCGGCCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACA CTAACCCGGCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923905	G G	GCCCCCAC others(98): Show GCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCC GGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGA CCCGGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0028 a0028	a0028c0047 a0028c0047	a0028c0047t0001 a0028c0047t0001	a0028c0047t0001g0202 a0028c0047t0001g0202	1	350	0.0029	105	c.488 others(122): Show c.488+1275_488+1276insGGCCCCCACACTAATCCGGCCCCCACAC TAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCA CACTGACCCGGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924359	G G	GTCCCCAC others(98): Show GTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCC GGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGA CCCGGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0208 a0006c0007t0001g0208	1	350	0.0029	105	c.489 others(122): Show c.489-1365_489-1364insTCCCCACACTAACCCGGCCCCCACACTA ATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924638	C C	CCCCCACA others(98): Show CCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ATCCGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG02258.hp1 HG02970.hp1	a0016 a0044 a0016 a0044	a0016c0073 a0044c0074 a0016c0073 a0044c0074	a0016c0073t0007 a0044c0074t0007 a0016c0073t0007 a0044c0074t0007	a0016c0073t0007g0166 a0044c0074t0007g0165 a0016c0073t0007g0166 a0044c0074t0007g0165	2	350	0.0057	105	c.489 others(122): Show c.489-1082_489-1081insACACTGACCCGGCCCCCCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCCACACTGACCCGGCCCCCACACTAA CCCGGCCCCCCACACTAATCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924793	G G	GCCCCTCA others(98): Show GCCCCTCACACTAACCCAGCCCCCACACTGACCCGGCCCCCACACTGACC CGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCTCACACTGA CCCGGC	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	105	c.489 others(120): Show c.489-927_489-926insTCACACTAACCCAGCCCCCACACTGACCCG GCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCC GGCCCCTCACACTGACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924827	G G	GCCCCCAC others(98): Show GCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTGA CCCGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01943.hp1 HG02280.hp2 others(1): Show HG01074.hp2 HG01943.hp1 HG02280.hp2 HG03471.hp1	a0001 a0002 a0045 a0001 a0002 a0045	a0001c0020 a0001c0060 a0002c0002 others(1): Show a0001c0020 a0001c0060 a0002c0002 a0045c0064	a0001c0020t0001 a0001c0060t0001 a0002c0002t0001 others(1): Show a0001c0020t0001 a0001c0060t0001 a0002c0002t0001 a0045c0064t0001	a0001c0020t0001g0129 a0001c0060t0001g0150 a0002c0002t0001g0181 others(1): Show a0001c0020t0001g0129 a0001c0060t0001g0150 a0002c0002t0001g0181 a0045c0064t0001g0179	4	350	0.0114	105	c.489 others(120): Show c.489-870_489-869insGACCCAGCCCCCCACACTAACCCAGCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCCACACTGACCCGGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924828	C C	CCCCCCAC others(98): Show CCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCACACTGACC CGGCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAA CCCAGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0101 a0010c0009t0001g0101	1	350	0.0029	105	c.489 others(120): Show c.489-892_489-891insCACACTAACCCGGCCCCTCACACTAACCCG GCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCCCCACACTGACCC GGCCCCCCACACTAACCCAGTCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461464	A A	AGCCACAT others(98): Show AGCCACATTCACCATGGAGGACCTATCCACACAGCAGCCACATTCACCAT GGGGGCTGTATCCGCACAGCACACACATTCACCGTGGAGGGCGTATCCGC ACAGCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(30): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00673.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG03041.hp2 HG03195.hp2 HG03492.hp2 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18942.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA19054.hp1 NA19056.hp2 NA19066.hp1 NA19091.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0009	a0001c0001 a0002c0004 a0006c0023 others(2): Show a0001c0001 a0002c0004 a0006c0023 a0007c0015 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0036 a0002c0004t0003 a0002c0004t0012 a0006c0023t0001 a0007c0015t0002 a0009c0020t0030	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 others(30): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0226 a0001c0001t0002g0146 a0001c0001t0002g0205 a0001c0001t0002g0213 a0001c0001t0010g0088 a0001c0001t0010g0202 a0001c0001t0017g0121 a0001c0001t0017g0165 a0001c0001t0019g0016 a0001c0001t0019g0082 a0001c0001t0036g0225 a0002c0004t0003g0020 a0002c0004t0012g0200 a0006c0023t0001g0196 a0007c0015t0002g0060 a0009c0020t0030g0182	33	238	0.1387	105	c.635 others(122): Show c.635-2823_635-2822insCGCTGTGCGGATACGCCCTCCACGGTGA ATGTGTGTGCTGTGCGGATACAGCCCCCATGGTGAATGTGGCTGCTGTGT GGATAGGTCCTCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461486	C C	CTATCCGC others(98): Show CTATCCGCACAGCAGCCACATTCACCATGGGGGGCGTATCCGCACAGCGG CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0128 a0002c0003t0007g0128	1	238	0.0042	105	c.635 others(122): Show c.635-2949_635-2845dupCGCCCCCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCTGCTGTGCGGATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461499	A A	AGCCACAT others(98): Show AGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCAT GGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGC ACAGCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0190 a0002c0003t0005g0190	1	238	0.0042	105	c.635 others(122): Show c.635-2962_635-2858dupCGCTGTGCGGATACGCCCCCCATGGTGA ATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGC GGATACGCCCCCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461779	A A	AGCCACAT others(98): Show AGCCACATTCACCATGGATGGCGTATCTGCAAAGCAGCCACATTCACCAT GGGGGGCGTATCCACACAGCACACACATTCACCATGGAGGGCATATCCGC ACAGCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	238	0.0042	105	c.635 others(122): Show c.635-3138_635-3137insCGCTGTGCGGATATGCCCTCCATGGTGA ATGTGTGTGCTGTGTGGATACGCCCCCCATGGTGAATGTGGCTGCTTTGC AGATACGCCATCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461779	A A	AGCCACAT others(98): Show AGCCACATTCACCATGGATGGCGTATCTGCACAGCAGCCACATTCACCAT GGGGGGCGTATCCACACAGCACACACATTCACCATGGAGGGCATATCCGC ACAGCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02132.hp2 HG02523.hp1 others(2): Show HG00597.hp1 HG02132.hp2 HG02523.hp1 HG03492.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0012 a0001c0001t0001g0123 a0001c0001t0001g0211 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0123 a0001c0001t0001g0211 a0001c0001t0002g0086 a0001c0001t0010g0122	5	238	0.0210	105	c.635 others(122): Show c.635-3138_635-3137insCGCTGTGCGGATATGCCCTCCATGGTGA ATGTGTGTGCTGTGTGGATACGCCCCCCATGGTGAATGTGGCTGCTGTGC AGATACGCCATCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448341	G G	GAAGGAAG others(98): Show GAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGGAGGGAGGGAGGGAGGGAG GGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02074.hp1 HG02074.hp2 others(2): Show HG01243.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG03017.hp2	a0001 a0002 a0035 others(1): Show a0001 a0002 a0035 a0036	a0001c0007 a0001c0079 a0002c0091 others(2): Show a0001c0007 a0001c0079 a0002c0091 a0035c0098 a0036c0100	a0001c0007t0032 a0001c0079t0072 a0002c0091t0002 others(2): Show a0001c0007t0032 a0001c0079t0072 a0002c0091t0002 a0035c0098t0025 a0036c0100t0017	a0001c0007t0032g0033 a0001c0079t0072g0113 a0002c0091t0002g0114 others(2): Show a0001c0007t0032g0033 a0001c0079t0072g0113 a0002c0091t0002g0114 a0035c0098t0025g0019 a0036c0100t0017g0121	5	126	0.0397	105	c.156 others(126): Show c.1561+20370_1561+20371insTCCTCCCTCCCTCCCTCCCTCCCT CCCCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTC CCTCCCTCCCTTCTTCCTTCCTTCCTTCCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTBP1_chr4_1206445_1254130	1236848	G G	GGTGTCCA others(98): Show GGTGTCCACCTCCTGATGGGGCTCAGGGCAAACCGAATGTCCACCTCCTG ATGGGGCACAGGGCAAACCAAGTGTCCACCTCCTGATGGGGCACAGGGAA AACCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02257.hp2 others(16): Show HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0016 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0019 a0001c0008t0002	a0001c0001t0002g0029 a0001c0001t0002g0059 a0001c0001t0002g0102 others(15): Show a0001c0001t0002g0029 a0001c0001t0002g0059 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0181 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0016g0180 a0001c0001t0019g0279 a0001c0008t0002g0267	19	422	0.0450	105	c.162 others(122): Show c.162+1334_162+1335insGGGGTTTTCCCTGTGCCCCATCAGGAGG TGGACACTTGGTTTGCCCTGTGCCCCATCAGGAGGTGGACATTCGGTTTG CCCTGAGCCCCATCAGGAGGTGGACAC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTNNA1_chr5_138748425_138940034	138777888	A A	AGAGGAGG others(98): Show AGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGG AGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGA GAGGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0174 a0001c0001t0006g0174	1	180	0.0056	105	c.-2- others(120): Show c.-2-4021_-2-4020insGGAGGAGGGAGAGGGGGAGGAGGGAGAGGG GGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGG AGGGAGAGGGGGAGGAGGGAGAGGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYP4F11_chr19_15907377_15939529	15932755	A A	AGTGAGTG others(98): Show AGTGAGTGAGGAGAGGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGA GGAGAGGAATGAGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGA ATGAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0083 a0002c0001t0083	a0002c0001t0083g0055 a0002c0001t0083g0055	1	386	0.0026	105	c.198 others(122): Show c.198+1455_198+1456insACTCATTCCTCTCCTCACTCACTCATTC CTCTCCTCGCTCACTCTCATTCCTCTCCTCGCTCACTCATTCCTCTGCTC ACTCACTCATTCCCTCTCCTCACTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650812	T T	TTCTTTCT others(98): Show TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTT CCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTCT CTCTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	424	0.0024	105	c.918 others(120): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TCTCTCTTCTCTTTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650816	T T	TTCTTTCT others(98): Show TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCAT CTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTTCTCT CTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp1 others(4): Show HG00099.hp2 HG00280.hp2 HG00642.hp1 HG04204.hp2 NA18941.hp2 NA19007.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0347 others(4): Show a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0347 a0001c0002t0001g0354 a0001c0002t0001g0361 a0001c0002t0001g0385 a0001c0002t0001g0390	7	424	0.0165	105	c.918 others(120): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTTCTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH3_chr7_6156779_6277624	6259760	T T	TATATATA others(98): Show TATATATATAATATATATATAATATATATATATAATATATATATATAATA TATATATAATATATATATATAATATATATATAATATATATATAATATATA TATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0310 a0001c0001t0003g0310	1	348	0.0029	105	c.34+ others(122): Show c.34+12713_34+12714insTATATATATATATTATATATATATTATA TATATATTATATATATATATTATATATATATTATATATATATATTATATA TATATATTATATATATATTATATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(98): Show TCAGCGCGGGAAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGG CGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGG GAGGCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19002.hp1 HG02818.hp2 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0027 a0001c0004t0002g0193 a0001c0004t0002g0027 a0001c0004t0002g0193	2	380	0.0053	105	c.121 others(122): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DCUN1D3_chr16_20849925_20905358	20872521	T T	TTTTTCCC others(98): Show TTTTTCCCCACGATGGAGGTTGACTGCTAATGCATAGCAGACAGGAAGAG GAAGAGGGACAGAAAAGATCCATACAATAAAAGAATTCCTGCTTTCAACC ACATCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02148.hp2 HG01952.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0096 a0001c0002t0016g0097 a0001c0002t0016g0096 a0001c0002t0016g0097	2	378	0.0053	105	c.-10 others(124): Show c.-105-9879_-105-9878insTGATGTGGTTGAAAGCAGGAATTCTT TTATTGTATGGATCTTTTCTGTCCCTCTTCCTCTTCCTGTCTGCTATGCA TTAGCAGTCAACCTCCATCGTGGGGAAAA	DCUN1D3	ENSG00000188215.10	transcript	ENST00000324344.9	protein_coding	1/2			chr16	TogoVar
DDX51_chr12_132131594_132149319	132134967	T T	TCCCGAGT others(98): Show TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0021 a0006c0011t0001g0021	1	334	0.0030	105	c.43 others(116): Show c.4304_*4305insGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG GAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGC GGGCACCGGGGCACACTCGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1626		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135003	C C	CCCGAGTG others(98): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	105	c.42 others(116): Show c.4268_*4269insAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCG GGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGC GGGCACCGTGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1590		chr12	TogoVar
DEAF1_chr11_639233_700222	647954	G G	GAGCAGGT others(98): Show GAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGA CTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGT GCTGGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	345	0.0029	105	c.159 others(124): Show c.1594-3301_1594-3300insGCCAGCACCGCCTGGGTCAAGTCCAC CCACCTGCTCCCAGCACCGCCTGGGTCAAGTCCACCCACCTGCTCCCAGC ACCGCCTGGGTCAAGTCCACCCACCTGCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(98): Show CAGGAGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGGAAGGCAGGG CAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGCAGGGGAGGGCAGGG GAGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG01433.hp1 others(18): Show HG00280.hp2 HG01243.hp1 HG01433.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA19030.hp1 NA19070.hp2 NA19084.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0001 a0004c0012t0001 a0001c0002t0001 a0004c0012t0001	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(18): Show a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0341 a0001c0002t0001g0342 a0004c0012t0001g0270	21	345	0.0609	105	c.387 others(122): Show c.387+1234_387+1235insCCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTGCCCTGCCTTCCCCTCCCCTCCC CTGCCCTCCCCTGCCCTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690306	G G	GAAGGCAG others(98): Show GAAGGCAGGGCAGGGGAGGGGAGGGGAGGGGAGGGGAGGGCAGGGGAGGG CAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGCAGGGGAGGGCAGGG GAGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0264 a0002c0005t0001g0264	1	345	0.0029	105	c.387 others(122): Show c.387+1194_387+1195insGCCCTCCCCTGCCCTCCCCTGCCCTCCC CTGCCCTCCCCTGCCCTCCCCTCCCCTGCCCTCCCCTGCCCTCCCCTCCC CTCCCCTCCCCTCCCCTGCCCTGCCTT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690331	G G	GAGGGGAG others(98): Show GAGGGGAGGGGAGGGCAGGGCAGGGGAGGGGAGGGGAGGGGAGGGCAGGG CAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGGCAGGG GAGGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	345	0.0029	105	c.387 others(122): Show c.387+1169_387+1170insGCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTGCCCTCCCCTCCCCTCCC CTCCCCTGCCCTGCCCTCCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690346	G G	GAGGGGAG others(98): Show GAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGGCAGGG GAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGG GAGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01257.hp2 HG01433.hp2 HG01123.hp1 HG01257.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217	3	345	0.0087	105	c.387 others(122): Show c.387+1154_387+1155insGCCCTCCCCTCCCCTGCCCTCCCCTGCC CTCCCCTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCCCCTGCCCTCCCCTGCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEF8_chr16_89943755_89973060	89948850	G G	GGGGACGG others(98): Show GGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGT CGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGACGGGG CTGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	392	0.0026	105	c.-10 others(121): Show c.-108+76_-108+180dupTCGGCGGGGTCGGGGCTGGGAGGGACGGG GCCGGCGGGGACGGGGTCGGCGGGGACGGGGCTGGGAGGGACGGGGCCGG CGGGGACGGGGCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948944	A A	ACGGGGCT others(98): Show ACGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGG GCCGGCGGGGTCGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGTCGG CGGGGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02148.hp2 HG02293.hp1 others(1): Show HG01928.hp2 HG02148.hp2 HG02293.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0040 a0001c0001t0001g0158 a0001c0001t0001g0159	4	392	0.0102	105	c.-10 others(122): Show c.-108+187_-108+291dupGGGTCGGGGCTGGGAGGGACGGGGCCGG CGGGGACGGGGTCGGCGGGGTCGGGGCTGGGAGGGACGGGGCCGGCGGGG ACGGGGCCGGCGGGGACGGGGCCGGCG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DENND6A_chr3_57620454_57698077	57644752	A A	AGGGGAGG others(98): Show AGGGGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGGG AGGGGTGGGGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGTGGGGAGGGG AGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	332	0.0030	105	c.103 others(122): Show c.1037+908_1037+909insACCCCTCCCCTCCCCACCCCTCCCCTCC CCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCCACCCCTCC CCTCCCCTCCCCACCCCTCCCCTCCCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DIP2C_chr10_269201_694668	372700	C C	CGGGCACA others(98): Show CGGGCACAGAAGCACGGGTGCTCCCGACACACAGGTGGGCACAGAAGCGC GGGAGCTCTCGACACACAGGCGGCTACAGAAGCGTGGGAGCTCCCGACAC ACAGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	105	c.199 others(124): Show c.1992-3068_1992-3067insACCTGTGTGTCGGGAGCTCCCACGCT TCTGTAGCCGCCTGTGTGTCGAGAGCTCCCGCGCTTCTGTGCCCACCTGT GTGTCGGGAGCACCCGTGCTTCTGTGCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar

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Search Results (Total: 10000 hits)