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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GRK4_chr4_2958571_3045760	2961219	T T	TATTAATA others(95): Show TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02145.hp2 HG02559.hp1 others(14): Show HG02129.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 NA19240.hp1	a0002 a0004 a0013 a0002 a0004 a0013	a0002c0002 a0004c0009 a0013c0014 a0002c0002 a0004c0009 a0013c0014	a0002c0002t0003 a0004c0009t0003 a0013c0014t0003 a0002c0002t0003 a0004c0009t0003 a0013c0014t0003	a0002c0002t0003g0006 a0002c0002t0003g0052 a0002c0002t0003g0053 others(14): Show a0002c0002t0003g0006 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0144 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0206 a0002c0002t0003g0232 a0002c0002t0003g0233 a0002c0002t0003g0234 a0004c0009t0003g0145 a0004c0009t0003g0151 a0013c0014t0003g0006 a0013c0014t0003g0149	17	268	0.0634	102	c.-28 others(113): Show c.-2852_-2851insATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAA		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding					2351		chr4	TogoVar
GRK5_chr10_119202571_119464745	119313034	G G	GGTGATGG others(95): Show GGTGATGGTGGTGGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGATGGTAATGATGGTAGTGGTGATGGTGGTGGTAATG GTA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0089 a0003c0002t0003g0089	1	202	0.0050	102	c.53- others(119): Show c.53-13392_53-13391insGTGGTAATGGTAGTGATGGTGGTGGTGG TAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATG GTAATGATGGTAGTGGTGATGGTG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRK5_chr10_119202571_119464745	119313038	A A	ATGGTGGT others(95): Show ATGGTGGTGGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGATGATGGTAATGATGGTAGTGGTGATGGTGGTGGTAATGGTAG TGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0094 a0001c0001t0022g0094	1	202	0.0050	102	c.53- others(119): Show c.53-13422_53-13421insATGATGGTAATGATGGTAGTGGTGATGG TGGTGGTAATGGTAGTGGTGGTGGTGGTGGTAATGATGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRK5_chr10_119202571_119464745	119313047	G G	GTGGTAAT others(95): Show GTGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GATGGTAATGATGGTAGTGGTGATGGTGGTGGTAATGGTAGTGGTGGTGG TGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01952.hp2 HG02165.hp1 others(1): Show HG00597.hp1 HG01952.hp2 HG02165.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0003c0002t0056 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0056 a0003c0002t0057	a0001c0001t0001g0086 a0001c0001t0002g0100 a0003c0002t0056g0087 others(1): Show a0001c0001t0001g0086 a0001c0001t0002g0100 a0003c0002t0056g0087 a0003c0002t0057g0090	4	202	0.0198	102	c.53- others(119): Show c.53-13392_53-13391insGTGGTAATGGTAGTGGTGGTGGTGATGG TAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATG GTAATGATGGTAGTGGTGATGGTG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRK5_chr10_119202571_119464745	119313052	A A	AATGATGA others(95): Show AATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGG TAATGATGGTAGTGGTGATGGTGGTGGTAATGGTAGTGGTGGTGGTGATG GTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0083 a0003c0002t0003g0083	1	202	0.0050	102	c.53- others(119): Show c.53-13392_53-13391insGTGGTAATGGTAGTGGTGGTGGTGATGG TGATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATG GTAATGATGGTAGTGGTGATGGTG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRK5_chr10_119202571_119464745	119313125	A A	ATGATGGT others(95): Show ATGATGGTAATGATGGTAGTGGTGATGGTGGTGGTAATGGTAGTGGTGGT GGTGATGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG04115.hp1 HG02683.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0038 a0001c0001t0007g0168 a0001c0001t0004g0038 a0001c0001t0007g0168	2	202	0.0099	102	c.53- others(119): Show c.53-13333_53-13332insAATGATGATGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGATGGTAATGATGGTAGTGGTGATGGTGGTGGT AATGGTAGTGGTGGTGGTGATGGT		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRK5_chr10_119202571_119464745	119394428	A A	ATCTGTGT others(95): Show ATCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTATG GGTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTGTGGGT GTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp2 HG02683.hp1 others(2): Show HG01884.hp2 HG01952.hp2 HG02683.hp1 HG04199.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0068 a0001c0001t0071 others(2): Show a0001c0001t0002 a0001c0001t0068 a0001c0001t0071 a0001c0001t0088 a0002c0003t0002	a0001c0001t0002g0100 a0001c0001t0068g0159 a0001c0001t0071g0145 others(2): Show a0001c0001t0002g0100 a0001c0001t0068g0159 a0001c0001t0071g0145 a0001c0001t0088g0080 a0002c0003t0002g0178	5	202	0.0248	102	c.262 others(119): Show c.262-2267_262-2266insTCTGTGTGTCTGTGTTTGTGTGTGTGTC TGTGGGTGTGTGTGGGGTATGGGTGTGTTTGTGTGGGTGGGTATGTGTCT GTGGGGGGGGTATGTGTGGGTGTG		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15						chr10	TogoVar
GRK5_chr10_119202571_119464745	119394643	G G	GTATCTGT others(95): Show GTATCTGTGTGTGTGTGGGCGTCTGTGTGTGGGCATGTGTGTGGGGGTGT GTGGGTACGTGTATGGGTGTGTGTATCTGCTTGTCAGTGGGCACGTGTGT GGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp2 HG01081.hp2 others(17): Show HG00733.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01433.hp1 HG01891.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp1 HG03453.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 NA18522.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(8): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0052 a0001c0001t0069 a0001c0001t0073 a0002c0003t0037	a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0035 others(17): Show a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0120 a0001c0001t0005g0125 a0001c0001t0009g0074 a0001c0001t0009g0110 a0001c0001t0009g0121 a0001c0001t0009g0132 a0001c0001t0009g0138 a0001c0001t0010g0188 a0001c0001t0018g0052 a0001c0001t0018g0135 a0001c0001t0043g0199 a0001c0001t0044g0176 a0001c0001t0047g0119 a0001c0001t0052g0066 a0001c0001t0069g0084 a0001c0001t0073g0161 a0002c0003t0037g0021	20	202	0.0990	102	c.262 others(119): Show c.262-2051_262-2050insATCTGTGTGTGTGTGGGCGTCTGTGTGT GGGCATGTGTGTGGGGGTGTGTGGGTACGTGTATGGGTGTGTGTATCTGC TTGTCAGTGGGCACGTGTGTGGAT		GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
GRTP1_chr13_113319163_113369130	113322727	G G	GTGCCGCT others(95): Show GTGCCGCTCTCTCTGAGGGGGTGGGGGTGCCGCTTTCTCTGAGGGGGTGG GGGTGCCGCTCTCTCTGAGGGGGTGGGGGTGCTGCTCTCTCCGAGGGGTG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	288	0.0035	102	c.17 others(113): Show c.1760_*1761insTTCCACCCCTCGGAGAGAGCAGCACCCCCACCCC CTCAGAGAGAGCGGCACCCCCACCCCCTCAGAGAAAGCGGCACCCCCACC CCCTCAGAGAGAGCGGCA		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding					1435		chr13	TogoVar
GSE1_chr16_85608322_85681200	85653191	C C	CCCTCCGC others(95): Show CCCTCCGCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCCCCTCCTCCCC CCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0198 a0001c0001t0009g0198	1	290	0.0035	102	c.427 others(119): Show c.427-1082_427-1081insGCCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTC CCCCCCCCTCCTCCCCCCTCCTCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCA2A_chr1_42157690_42169745	42166942	T T	TGTGTGTG others(95): Show TGTGTGTGTATACACTGAGGTGCGTGTGTGTGCTGAGGTGTGTGTGTGCT GACGTGTGTATACACTGAGGTGCGTGTATGTGCTGAGGTGTGTGAGTGCT GAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG03486.hp2 HG01243.hp2 HG02723.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0005g0026 a0001c0001t0001g0002 a0001c0001t0005g0026	3	436	0.0069	102	c.-22 others(113): Show c.-2231_-2230insGTCAGCACTCACACACCTCAGCACATACACGCAC CTCAGTGTATACACACGTCAGCACACACACACCTCAGCACACACACGCAC CTCAGTGTATACACACAC		GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding					2198		chr1	TogoVar
GYG2_chrX_2823930_2887818	2844533	T T	TGTGTGTA others(95): Show TGTGTGTATACGCACACGCATGCGCATGTGTGTATACGCACACGCATGCG CATGTGTGTATACGCACACGCATGCGCATGTGTGTATACGCACACGCATG CGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02970.hp2 HG02896.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0006 a0002c0002t0005 a0002c0002t0006	a0002c0002t0005g0016 a0002c0002t0006g0134 a0002c0002t0005g0016 a0002c0002t0006g0134	2	316	0.0063	102	c.149 others(119): Show c.149+1179_149+1180insGTGTGTATACGCACACGCATGCGCATGT GTGTATACGCACACGCATGCGCATGTGTGTATACGCACACGCATGCGCAT GTGTGTATACGCACACGCATGCGC		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10						chrX	TogoVar
HACL1_chr3_15555699_15606569	15592530	A A	ATGTACGC others(95): Show ATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGT ATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGT GCG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0342 a0001c0002t0001g0342	1	428	0.0023	102	c.228 others(117): Show c.228-851_228-850insCGCACACATGTGCGTACATGTGTATACACG CACACATGTGCGTACATGTGTATACACGCACACATGTGCGTACATGTGTA TACACGCACACATGTGCGTACA		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(95): Show CATATATATATATATATATATATATATATATATATATACGTATATATATG TGTATATATATATGTATATATATATATATACACACATATATATACGTATA TAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	428	0.0023	102	c.771 others(119): Show c.771+2337_771+2338insTATATACGTATATATATGTGTATATATA TATGTATATATATATATATACACACATATATATACGTATATATATATATA TATATATATATATATATATATATA		HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389137	C C	CATATATA others(95): Show CATATATATATATATATATATATATATATATATATATATATGTATATATA TGTGTATATATATATGTATATATATATATATACACATATATATACGTATA TAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG02886.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	428	0.0047	102	c.771 others(119): Show c.771+2337_771+2338insTATATATATGTATATATATGTGTATATA TATATGTATATATATATATATACACATATATATACGTATATATATATATA TATATATATATATATATATATATA		HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
HAP1_chr17_41717640_41739643	41730109	A A	AAAGAAAA others(95): Show AAAGAAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02273.hp1 HG02165.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0279 a0001c0001t0007g0278 a0001c0001t0001g0279 a0001c0001t0007g0278	2	374	0.0054	102	c.106 others(121): Show c.1069+1383_1069+1384insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTTCTTTCTTTTCTT		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10						chr17	TogoVar
HAP1_chr17_41717640_41739643	41730109	A A	AAAGAAGA others(95): Show AAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0337 a0008c0007t0002g0337	1	374	0.0027	102	c.106 others(121): Show c.1069+1383_1069+1384insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTCTT		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10						chr17	TogoVar
HELZ2_chr20_63553086_63579239	63571194	C C	CGGTGGGC others(95): Show CGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCT GTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp2 HG02257.hp1 HG03516.hp2	a0068 a0077 a0068 a0077	a0068c0068 a0077c0049 a0068c0068 a0077c0049	a0068c0068t0001 a0077c0049t0087 a0068c0068t0001 a0077c0049t0087	a0068c0068t0001g0238 a0077c0049t0087g0250 a0068c0068t0001g0238 a0077c0049t0087g0250	2	390	0.0051	102	c.279 others(117): Show c.279-327_279-326insACAGGCAGAGCCAGAGGTTCCCAGGAGCTT GGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT TGGAGCAGGGCAGGAGCCCACC		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19						chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571789	G G	GCCTCTGG others(95): Show GCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGG AGCCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGG GAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0014 a0004c0008t0014	a0004c0008t0014g0245 a0004c0008t0014g0245	1	390	0.0026	102	c.278 others(117): Show c.278+318_278+319insTTCCCAGGAGCTTGGAGTAGGGCAGGAGCC CACCGTAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGC CCACCACAGGCAGAGCCAGAGG		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19						chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571789	G G	GCCTCTGG others(95): Show GCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGG AGCCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGG GAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01496.hp2 others(48): Show HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18983.hp1 NA19011.hp1 NA19030.hp2 NA19079.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0004 a0009 a0016 others(8): Show a0004 a0009 a0016 a0032 a0072 a0083 a0084 a0087 a0088 a0090 a0091	a0004c0004 a0004c0008 a0004c0035 others(12): Show a0004c0004 a0004c0008 a0004c0035 a0004c0125 a0004c0126 a0009c0014 a0016c0037 a0032c0038 a0072c0054 a0083c0132 a0084c0117 a0087c0124 a0088c0118 a0090c0130 a0091c0116	a0004c0004t0013 a0004c0004t0015 a0004c0004t0016 others(33): Show a0004c0004t0013 a0004c0004t0015 a0004c0004t0016 a0004c0004t0020 a0004c0004t0026 a0004c0004t0028 a0004c0004t0029 a0004c0004t0043 a0004c0004t0045 a0004c0004t0049 a0004c0004t0050 a0004c0004t0052 a0004c0004t0053 a0004c0004t0055 a0004c0004t0056 a0004c0008t0013 a0004c0008t0015 a0004c0008t0016 a0004c0008t0025 a0004c0008t0041 a0004c0035t0015 a0004c0035t0047 a0004c0125t0026 a0004c0126t0051 a0009c0014t0001 a0009c0014t0003 a0009c0014t0004 a0016c0037t0030 a0032c0038t0025 a0072c0054t0015 a0083c0132t0020 a0084c0117t0028 a0087c0124t0002 a0088c0118t0015 a0090c0130t0013 a0091c0116t0016	a0004c0004t0013g0025 a0004c0004t0013g0100 a0004c0004t0015g0098 others(42): Show a0004c0004t0013g0025 a0004c0004t0013g0100 a0004c0004t0015g0098 a0004c0004t0015g0265 a0004c0004t0016g0026 a0004c0004t0016g0094 a0004c0004t0016g0095 a0004c0004t0020g0024 a0004c0004t0020g0101 a0004c0004t0026g0027 a0004c0004t0028g0066 a0004c0004t0029g0010 a0004c0004t0043g0096 a0004c0004t0045g0267 a0004c0004t0049g0264 a0004c0004t0050g0099 a0004c0004t0052g0069 a0004c0004t0053g0070 a0004c0004t0055g0268 a0004c0004t0056g0266 a0004c0008t0013g0008 a0004c0008t0013g0102 a0004c0008t0015g0071 a0004c0008t0016g0072 a0004c0008t0025g0060 a0004c0008t0041g0061 a0004c0035t0015g0097 a0004c0035t0047g0103 a0004c0125t0026g0269 a0004c0126t0051g0068 a0009c0014t0001g0243 a0009c0014t0003g0242 a0009c0014t0004g0084 a0009c0014t0004g0241 a0016c0037t0030g0065 a0016c0037t0030g0091 a0032c0038t0025g0062 a0032c0038t0025g0063 a0072c0054t0015g0092 a0083c0132t0020g0042 a0084c0117t0028g0073 a0087c0124t0002g0240 a0088c0118t0015g0067 a0090c0130t0013g0262 a0091c0116t0016g0093	51	390	0.1308	102	c.278 others(117): Show c.278+318_278+319insTTCCCAGGAGCTTGGAGTAGGGCAGGAGCC CACCGTAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGG		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19						chr20	TogoVar
HGD_chr3_120623172_120687239	120624712	G G	GTGTATAT others(95): Show GTGTATATATATGTGTATATATATATATGTGTATATATATGTGTATATAT ATATATGTGTATATATATGTGTATATATATATATGGAGAGAGAGAGAGAG AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0029 a0003c0005t0001g0029	1	374	0.0027	102	c.36 others(113): Show c.3667_*3668insTCTCTCTCTCTCTCTCTCCATATATATATATACA CATATATATACACATATATATATATACACATATATATACACATATATATA TATACACATATATATACA		HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding					3459		chr3	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(95): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	380	0.0026	102	c.-38 others(113): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3654		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(95): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp2 NA18983.hp2 others(1): Show HG02132.hp1 HG02132.hp2 NA18983.hp2 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0013 a0001c0002t0002g0001 a0001c0002t0001g0013 a0001c0002t0002g0001	4	380	0.0105	102	c.-38 others(113): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3654		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGAGGGG others(95): Show GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGA GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	380	0.0026	102	c.-38 others(113): Show c.-3848_-3847insGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGAGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3612		chr12	TogoVar
HIVEP3_chr1_41501365_41923922	41545556	A A	ACCACCAC others(95): Show ACCACCACTACCACCCCTGCCACAGCCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCAATACCACTACCATCACCACCATCACCA CTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0016 a0009c0009t0016	a0009c0009t0016g0082 a0009c0009t0016g0082	1	134	0.0075	102	c.520 others(123): Show c.5208-20647_5208-20646insCAGTGGTGATGGTGGTGATGGTAG TGGTATTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTG GTGGCTGTGGCAGGGGTGGTAGTGGTGG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(95): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	306	0.0033	102	c.26 others(113): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1232		chr12	TogoVar
HRCT1_chr9_35901202_35912136	35906589	A A	ACCACCAC others(95): Show ACCACCACCACCACCCCCACCGCCACCATCCCCGCCACACCCCTCACCAC CTCCACCACCACCACCCCCACCGCCACCATCCCCGCCACACCCCTCACCA CCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19004.hp1 NA19004.hp1	a0067 a0067	a0067c0069 a0067c0069	a0067c0069t0001 a0067c0069t0001	a0067c0069t0001g0000 a0067c0069t0001g0000	1	430	0.0023	102	c.339 others(109): Show c.339_340insACCCCTCACCACCTCCACCACCACCACCCCCACCGCCA CCATCCCCGCCACACCCCTCACCACCTCCACCACCACCACCCCCACCGCC ACCATCCCCGCCAC	p.His others(115): Show p.His113_Ala114insThrProHisHisLeuHisHisHisHisProHi sArgHisHisProArgHisThrProHisHisLeuHisHisHisHisProH isArgHisHisProArgHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	426/935	340/348	114/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(95): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCACCACCA CCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01993.hp2 HG02273.hp1 HG01993.hp2 HG02273.hp1	a0032 a0032	a0032c0031 a0032c0031	a0032c0031t0001 a0032c0031t0001	a0032c0031t0001g0000 a0032c0031t0001g0000	2	430	0.0047	102	c.316 others(109): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCA CCACCACCCCCACC	p.His others(115): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH isHisHisHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRH3_chr20_62209960_62225278	62213413	G G	GGGGAGGG others(95): Show GGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGTAAG GAGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAAG GAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	368	0.0027	102	c.25 others(113): Show c.2592_*2593insATCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCC CTCCCCCATCCCCGCTCTCCTTACCCCCCATCCCTGCTCTCCCTTCCCCC ATCCCCGCTCTCCCTCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1546		chr20	TogoVar
HSD17B11_chr4_87331515_87396188	87378833	T T	TATATATA others(95): Show TATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATAAATATATATATAAATATAAATAAATATATATATATAAATATATA TAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	390	0.0026	102	c.318 others(119): Show c.318+3421_318+3422insTTATATATATTTATATATATATATTTAT TTATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATAT		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
HSF1_chr8_144286604_144319720	144313736	G G	GCCTCCCC others(95): Show GCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG CCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCG CGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	330	0.0030	102	c.124 others(119): Show c.1249-109_1249-108insCTCCCCGCACCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC GCCGCCTCCCCGCCTCCCCGCGCC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HTT_chr4_3069681_3248957	3227307	T T	TACAGTGC others(95): Show TACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGTACAGTGCCACCCCTT CCCTGTCTGGGGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTGA AGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp2 NA19240.hp2 HG02647.hp1 HG06807.hp2 NA19240.hp2	a0019 a0033 a0019 a0033	a0019c0020 a0033c0097 a0019c0020 a0033c0097	a0019c0020t0007 a0033c0097t0001 a0019c0020t0007 a0033c0097t0001	a0019c0020t0007g0088 a0019c0020t0007g0102 a0033c0097t0001g0061 a0019c0020t0007g0088 a0019c0020t0007g0102 a0033c0097t0001g0061	3	294	0.0102	102	c.784 others(121): Show c.7849-1275_7849-1274insTACAGTGCCACCCCTTCCCTGTCTGG GGCTGAAGGACAGTGCCACCCCTGCCCTGTCTGGGGCTGAAGGACAGTGC CACCCCTGCCCTGTCTGGGGCTGAAG		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	57/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
IFNAR1_chr21_33319970_33364864	33323428	G G	GATGGAAT others(95): Show GATGGAATATAGAGATGGAATATAGAGATGGAATATAGAGATGGAATATA GAGATGGAATATAGAGATGGAATATATATATGGAATATAGAGATGGAATA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0137 a0001c0001t0012g0140 a0001c0001t0012g0137 a0001c0001t0012g0140	2	323	0.0062	102	c.-16 others(113): Show c.-1628_-1627insATGGAATATAGAGATGGAATATAGAGATGGAATA TAGAGATGGAATATAGAGATGGAATATAGAGATGGAATATATATATGGAA TATAGAGATGGAATATAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1541		chr21	TogoVar
INO80_chr15_40973880_41121280	41031547	G G	GAAGGGAG others(95): Show GAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAG GGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGA GGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	282	0.0036	102	c.290 others(121): Show c.2908-3812_2908-3811insTCCTCCCTCCCTTCCTCCCTTTCTCC CTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCC CTCCCTCCCTTCCTCCCTCCTCCCTT		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INPP5A_chr10_132532787_132788480	132721678	A A	AGCTGTCT others(95): Show AGCTGTCTTGCGGGTTCTGTGGTGCCTGGGTTCTGTCTGGGCGCCTTAGA CTGCTGTCTTCAGGGTTCTGTGGTGCCTGGGTTCTGTCTGGGCACCTGAG ACG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	204	0.0049	102	c.648 others(119): Show c.648-5116_648-5015dupGGGTTCTGTCTGGGCGCCTTAGACTGCT GTCTTCAGGGTTCTGTGGTGCCTGGGTTCTGTCTGGGCACCTGAGACGGC TGTCTTGCGGGTTCTGTGGTGCCT		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161592	A A	AGGACCCC others(95): Show AGGACCCCTGTCCCCAGGACCCCTGTCCCCGGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCC CAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01515.hp1 others(5): Show HG00099.hp2 HG00140.hp1 HG01515.hp1 HG01517.hp2 HG02080.hp1 NA18951.hp2 NA18954.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	376	0.0213	102	c.-44 others(111): Show c.-443_-442insCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTC CTGGGGACAGGGGTCC		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					384		chr11	TogoVar
INS_chr11_2154779_2166209	2161664	C C	CACCCCTG others(95): Show CACCCCTGTCCCCGGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC AGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	376	0.0027	102	c.-51 others(111): Show c.-515_-514insCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGG TCCCGGGGACAGGGGT		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					456		chr11	TogoVar
IQCE_chr7_2553979_2619728	2577651	T T	TTGGCTGT others(95): Show TTGGCTGTGCGCGCGGGGACGTGTGTGCGGCGTATACGCATTGGCGTGTG CGTGGCTGTGCGCGCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGT GCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG02109.hp2 HG02970.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0035 a0007c0016t0079 a0007c0016t0035 a0007c0016t0079	a0007c0016t0035g0143 a0007c0016t0079g0145 a0007c0016t0035g0143 a0007c0016t0079g0145	2	416	0.0048	102	c.466 others(117): Show c.466-559_466-558insATACGCATTGGCGTGTGCGTGGCTGTGCGC GCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGCG CGCGGGGACGTGTGTGCGGCGT		IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2577651	T T	TTGGCTGT others(95): Show TTGGCTGTGCGCGCGGGGACGTGTGTGCGGCGTTTACGCATTGGCGTGTG CGTGGCTGTGCGCGCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGT GCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19030.hp2 HG01109.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0029 a0002c0049 a0001c0029 a0002c0049	a0001c0029t0051 a0002c0049t0073 a0001c0029t0051 a0002c0049t0073	a0001c0029t0051g0171 a0002c0049t0073g0054 a0001c0029t0051g0171 a0002c0049t0073g0054	2	416	0.0048	102	c.466 others(117): Show c.466-559_466-558insTTACGCATTGGCGTGTGCGTGGCTGTGCGC GCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTGCGTGGCTGTGCG CGCGGGGACGTGTGTGCGGCGT		IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2577957	G G	GTGGCTGT others(95): Show GTGGCTGTGCGCGCGGGGACGTGCGTGCGGCGTGCCCGCAGTGGCGTGTG CGTGGCTGTGCGCGCGGGGACGTGCGTGCGGCGTGTGCGCATTGGCGTGT ACT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0102 a0006c0009t0102	a0006c0009t0102g0214 a0006c0009t0102g0214	1	416	0.0024	102	c.466 others(117): Show c.466-263_466-262insCGTGCGGCGTGCCCGCAGTGGCGTGTGCGT GGCTGTGCGCGCGGGGACGTGCGTGCGGCGTGTGCGCATTGGCGTGTACT TGGCTGTGCGCGCGGGGACGTG		IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
IQGAP2_chr5_76398285_76713132	76699613	C C	CTCTCTCT others(95): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCT CGTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCT GTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0012 a0002c0001t0008g0012	1	222	0.0045	102	c.436 others(121): Show c.4368-1419_4368-1418insACTCTCGTGCTCTCTCTCTCTCCATA TATAGTTCATTTGCTTCAGGCTTCTCTCTGTTTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTC		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	T T	TTCTCTCT others(95): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCT CTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGTTTCT CTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0017 a0017c0020t0017	a0017c0020t0017g0222 a0017c0020t0017g0222	1	222	0.0045	102	c.436 others(121): Show c.4368-1339_4368-1338insTCTCTCTCTCTCTCTCTCTCACTCTC GTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTG TTTCTCTCTCTCTCTCTCTCTCTCTC		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(95): Show CATATATATATATATATATATATATACATACATATATATATATATATACA TACATATATATATATATACACATACATATATATATATATATACACATACA TAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18747.hp1 NA18980.hp2 HG02040.hp1 NA18747.hp1 NA18980.hp2	a0001 a0001	a0001c0026 a0001c0029 a0001c0061 a0001c0026 a0001c0029 a0001c0061	a0001c0026t0020 a0001c0029t0049 a0001c0061t0045 a0001c0026t0020 a0001c0029t0049 a0001c0061t0045	a0001c0026t0020g0113 a0001c0029t0049g0121 a0001c0061t0045g0114 a0001c0026t0020g0113 a0001c0029t0049g0121 a0001c0061t0045g0114	3	142	0.0211	102	c.163 others(121): Show c.163+14223_163+14224insATATGTATGTGTATATATATATATAT ATGTATGTGTATATATATATATATGTATGTATATATATATATATATGTAT GTATATATATATATATATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(95): Show CATATATATATATATATATATATATATATATATATATATATATATACACA CATACATATATATATATATATACATACATATATATATATATATACACATA CAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG03017.hp2 others(2): Show HG01261.hp2 HG01346.hp2 HG03017.hp2 HG03492.hp1 NA20752.hp2	a0001 a0001	a0001c0027 a0001c0054 a0001c0056 others(1): Show a0001c0027 a0001c0054 a0001c0056 a0001c0064	a0001c0027t0055 a0001c0027t0056 a0001c0054t0023 others(2): Show a0001c0027t0055 a0001c0027t0056 a0001c0054t0023 a0001c0056t0001 a0001c0064t0008	a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0054t0023g0136 others(2): Show a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0054t0023g0136 a0001c0056t0001g0017 a0001c0064t0008g0024	5	142	0.0352	102	c.163 others(121): Show c.163+14223_163+14224insATGTATGTGTATATATATATATATAT GTATGTATATATATATATATATGTATGTGTGTATATATATATATATATAT ATATATATATATATATATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
JAG2_chr14_105135995_105173776	105161736	A A	ACAAACCT others(95): Show ACAAACCTCTCACCCCGTCCTTCCAGGACTCAGTTGCCTCCTCTGCGAAT AGCAACCTCTCATCCCTGTCCTTCCAGGACTCAGTTGCCTCCTCTGCGAA TAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0204 a0002c0013t0001g0204	1	364	0.0028	102	c.418 others(119): Show c.418-3974_418-3973insCTATTCGCAGAGGAGGCAACTGAGTCCT GGAAGGACAGGGATGAGAGGTTGCTATTCGCAGAGGAGGCAACTGAGTCC TGGAAGGACGGGGTGAGAGGTTTG		JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25						chr14	TogoVar
JAG2_chr14_105135995_105173776	105161751	C C	CGTCCTTC others(95): Show CGTCCTTCCAGGACTCAGTTGCCTCCTCTGCGAATAGCAACCTCTCACCC CTGTCCTTCCAGGACTCAGTTGCCTCCTCTGCGAATAGCAACCTCTCACC CCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01516.hp1 HG03927.hp1 HG01168.hp1 HG01516.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0182 a0001c0001t0001g0232 a0001c0001t0001g0233	3	364	0.0082	102	c.418 others(119): Show c.418-3989_418-3988insAGGGGTGAGAGGTTGCTATTCGCAGAGG AGGCAACTGAGTCCTGGAAGGACAGGGGTGAGAGGTTGCTATTCGCAGAG GAGGCAACTGAGTCCTGGAAGGAC		JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25						chr14	TogoVar
JAG2_chr14_105135995_105173776	105161798	T T	TCCCTGTC others(95): Show TCCCTGTCCTTCCAGGACTCAGTTGCCTCCTCTGCGAATAGCAACCTCTC ACCCCTGTCCTTCCAGGACTCAGTTGCCTCCTCTGCGAATAGCAACCTCT CAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00597.hp1 others(134): Show HG00099.hp1 HG00280.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18967.hp1 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0013 a0014	a0001c0001 a0001c0010 a0001c0011 others(9): Show a0001c0001 a0001c0010 a0001c0011 a0001c0012 a0001c0025 a0001c0035 a0001c0036 a0002c0013 a0005c0007 a0005c0021 a0013c0023 a0014c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0010t0001 a0001c0010t0008 a0001c0011t0001 a0001c0011t0021 a0001c0012t0001 a0001c0025t0001 a0001c0035t0001 a0001c0036t0001 a0002c0013t0001 a0005c0007t0004 a0005c0021t0004 a0013c0023t0001 a0014c0018t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(108): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0151 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0003g0175 a0001c0001t0007g0035 a0001c0001t0007g0195 a0001c0001t0007g0197 a0001c0001t0007g0200 a0001c0001t0008g0196 a0001c0001t0011g0220 a0001c0001t0013g0041 a0001c0001t0014g0223 a0001c0001t0017g0184 a0001c0001t0022g0046 a0001c0010t0001g0198 a0001c0010t0001g0202 a0001c0010t0001g0263 a0001c0010t0008g0191 a0001c0011t0001g0194 a0001c0011t0001g0199 a0001c0011t0001g0207 a0001c0011t0021g0206 a0001c0012t0001g0013 a0001c0012t0001g0059 a0001c0025t0001g0249 a0001c0035t0001g0208 a0001c0036t0001g0262 a0002c0013t0001g0218 a0005c0007t0004g0245 a0005c0007t0004g0246 a0005c0007t0004g0247 a0005c0007t0004g0259 a0005c0021t0004g0248 a0013c0023t0001g0178 a0014c0018t0001g0219	137	364	0.3764	102	c.418 others(119): Show c.418-4137_418-4036dupGTGAGAGGTTGCTATTCGCAGAGGAGGC AACTGAGTCCTGGAAGGACAGGGGTGAGAGGTTGCTATTCGCAGAGGAGG CAACTGAGTCCTGGAAGGACAGGG		JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25						chr14	TogoVar
JAKMIP2_chr5_147580438_147787728	147764920	A A	AAGAAAGA others(95): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGA GAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0177 a0001c0001t0013g0177	1	250	0.0040	102	c.-14 others(123): Show c.-149+17535_-149+17536insCTCTCTCTCTCTCTCTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
KCNK1_chr1_233609106_233677514	233672635	A A	ATATACAT others(95): Show ATATACATATGTATATATATGTATGTATATATATACATATGTATATATAT ATATGTGTATATATATATATACGTATATATATGTGTATATATATATATAT ACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG01123.hp1 others(22): Show HG00544.hp1 HG01109.hp1 HG01123.hp1 HG01257.hp2 HG01515.hp1 HG01517.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02258.hp2 HG02523.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp1 HG03098.hp2 HG03491.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18956.hp1 NA18970.hp1 NA19009.hp2 NA19056.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0207 others(21): Show a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0207 a0001c0001t0001g0344 a0001c0001t0001g0366 a0001c0001t0002g0009 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0242 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0312 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0332 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0066 a0001c0001t0003g0080 a0001c0001t0003g0118 a0001c0001t0003g0134 a0001c0001t0003g0163 a0004c0006t0001g0358	25	422	0.0592	102	c.11 others(113): Show c.1105_*1106insTATACATATGTATATATATGTATGTATATATATA CATATGTATATATATATATGTGTATATATATATATACGTATATATATGTG TATATATATATATATACG		KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding					122		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672635	A A	ATATACAT others(95): Show ATATACATATGTATATATATGTATGTATATATATACATATGTATATATAT ATATGTGTATATATATATATATACGTATATATATGTGTATATATATATAT ACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG03017.hp2 HG00438.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0076 a0001c0001t0003g0054 a0001c0001t0003g0076	2	422	0.0047	102	c.11 others(113): Show c.1105_*1106insTATACATATGTATATATATGTATGTATATATATA CATATGTATATATATATATGTGTATATATATATATATACGTATATATATG TGTATATATATATATACG		KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding					122		chr1	TogoVar

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Search Results (Total: 10000 hits)