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
CUL4A_chr13_113204613_113272108	113232250	G G	GCCACCAC others(19): Show GCCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19030.hp1 HG02970.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0001 a0001c0001t0004 a0001c0011t0001	a0001c0001t0004g0358 a0001c0011t0001g0100 a0001c0001t0004g0358 a0001c0011t0001g0100	2	396	0.0051	26	c.513 others(41): Show c.513-926_513-925insCACCACTACCCGCCCACCACCATTAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(19): Show GTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19082.hp1 HG02145.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0019 a0002c0002t0001 a0001c0001t0019 a0002c0002t0001	a0001c0001t0019g0214 a0002c0002t0001g0093 a0001c0001t0019g0214 a0002c0002t0001g0093	2	396	0.0051	26	c.513 others(41): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(19): Show GTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19088.hp1 HG02622.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0266 a0001c0001t0006g0350 a0001c0001t0001g0266 a0001c0001t0006g0350	2	396	0.0051	26	c.513 others(41): Show c.513-927_513-926insTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260203	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp2 others(22): Show HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00741.hp1 HG01074.hp1 HG01123.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp2 HG01928.hp2 HG02109.hp2 HG02300.hp2 NA18949.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA18985.hp1 NA18992.hp1 NA18994.hp1 NA19006.hp2 NA19064.hp1 NA19065.hp1 NA19077.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0005c0010t0001	a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0198 others(22): Show a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0311 a0001c0001t0001g0326 a0002c0002t0001g0016 a0002c0002t0001g0052 a0002c0002t0001g0075 a0002c0002t0001g0101 a0002c0002t0001g0338 a0002c0002t0004g0049 a0005c0010t0001g0263	25	396	0.0631	26	c.203 others(43): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260211	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	396	0.0025	26	c.203 others(43): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAACAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL9_chr6_43177196_43229587	43177228	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0084 a0007c0019t0001g0084	1	276	0.0036	26	c.-50 others(37): Show c.-5031_-5030insTTTTTTTTTTTTTTTTTTTTTTTTTT	CUL9	ENSG00000112659.14	transcript	ENST00000252050.9	protein_coding		4967		chr6	TogoVar
CUL9_chr6_43177196_43229587	43191481	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01258.hp2 HG01978.hp1 others(2): Show HG00741.hp1 HG01258.hp2 HG01978.hp1 HG03704.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0105 others(2): Show a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107	5	276	0.0181	26	c.218 others(45): Show c.2181-1496_2181-1495insTTTTTTTTTTTTTTTTTTTTTTTTTT	CUL9	ENSG00000112659.14	transcript	ENST00000252050.9	protein_coding	8/40		INFO_REALIGN_3_PRIME	chr6	TogoVar
CUX1_chr7_101811007_102288958	102030689	G G	GTGTTTTT others(19): Show GTGTTTTTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0116 a0002c0003t0012g0116	1	132	0.0076	26	c.222 others(43): Show c.222+2558_222+2559insTTTTTTGTTTTTTGTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101811007_102288958	102046569	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	132	0.0076	26	c.222 others(45): Show c.222+18426_222+18451dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102030689	G G	GTGTTTTT others(19): Show GTGTTTTTTTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	136	0.0074	26	c.189 others(43): Show c.189+2558_189+2559insTTTTTTGTTTTTTGTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102046569	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0097 a0001c0004t0018g0097	1	136	0.0074	26	c.189 others(45): Show c.189+18426_189+18451dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111069533	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02698.hp1 HG02698.hp2 others(1): Show HG01099.hp2 HG02698.hp1 HG02698.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0002 a0001c0002t0001 a0002c0006t0001 a0001c0001t0002 a0001c0002t0001 a0002c0006t0001	a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0002t0001g0061 others(1): Show a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0002t0001g0061 a0002c0006t0001g0053	4	100	0.0400	26	c.63+ others(43): Show c.63+35306_63+35331dupGTGTGTGCGCGCGCGTGTGTGTGTGT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328941	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0041 a0001c0004t0004g0041	1	100	0.0100	26	c.292 others(45): Show c.2927-5491_2927-5466dupTCTCTCTCTCTCTCTCTCTCTCTCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	100	0.0100	26	c.292 others(45): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCTCTCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC22_chr2_179939876_180012297	180009574	C C	CTAGATTC others(19): Show CTAGATTCATGGAGGGATGATTCTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0032 a0004c0004t0004g0032	1	376	0.0027	26	c.-28 others(37): Show c.-2822_-2821insACAAGAATCATCCCTCCATGAATCTA	CWC22	ENSG00000163510.14	transcript	ENST00000410053.8	protein_coding		2278		chr2	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02559.hp1 HG02717.hp1 others(3): Show HG02027.hp1 HG02559.hp1 HG02717.hp1 NA18983.hp2 NA18998.hp2 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 a0002c0002 a0002c0004 a0002c0006	a0002c0002t0002 a0002c0004t0002 a0002c0004t0003 others(1): Show a0002c0002t0002 a0002c0004t0002 a0002c0004t0003 a0002c0006t0002	a0002c0002t0002g0015 a0002c0002t0002g0108 a0002c0004t0002g0020 others(3): Show a0002c0002t0002g0015 a0002c0002t0002g0108 a0002c0004t0002g0020 a0002c0004t0002g0052 a0002c0004t0003g0056 a0002c0006t0002g0258	6	260	0.0231	26	c.670 others(41): Show c.670-646_670-645insTATATATATATATATATATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107380046	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0349 a0004c0004t0001g0349	1	392	0.0026	26	c.187 others(47): Show c.1872+10002_1872+10027dupTTTTTTTTTTTTTTTTTTTTTTTT TT	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	12/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402871	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02559.hp1 HG02895.hp2 HG02897.hp1 HG03831.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0006 a0001c0001 a0004c0004 a0006c0006	a0001c0001t0001 a0004c0004t0002 a0006c0006t0003 a0001c0001t0001 a0004c0004t0002 a0006c0006t0003	a0001c0001t0001g0244 a0004c0004t0002g0333 a0006c0006t0003g0004 a0001c0001t0001g0244 a0004c0004t0002g0333 a0006c0006t0003g0004	4	392	0.0102	26	c.161 others(45): Show c.1618-9977_1618-9976insTATATATATATATATATATATATATA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0363 a0002c0002t0003g0363	1	392	0.0026	26	c.161 others(46): Show c.1618-10004_1618-9979dupTATATATATATATATATATATATAT A	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	392	0.0026	26	c.161 others(45): Show c.1618-9979_1618-9978insTATATATATATATATATATATATACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0358 a0001c0001t0002g0358	1	392	0.0026	26	c.161 others(45): Show c.1618-9979_1618-9978insTATATATATATATATATATATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(19): Show GTGTGTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0025 a0003c0003t0002g0025	1	392	0.0026	26	c.161 others(45): Show c.1618-9979_1618-9978insTATATATATATATATATACATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA20300.hp1 HG02615.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0102 a0001c0001t0002g0103	2	392	0.0051	26	c.161 others(45): Show c.1618-9979_1618-9978insTATATATATATATATATATACACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039306	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01099.hp1 HG02071.hp2 others(18): Show HG00609.hp2 HG01099.hp1 HG02071.hp2 HG02074.hp1 HG02738.hp1 HG02965.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp2 NA18522.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp1 NA18951.hp2 NA18959.hp2 NA18964.hp2 NA18986.hp1 NA19001.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0040 a0001c0001t0001g0136 a0001c0001t0001g0149 others(17): Show a0001c0001t0001g0040 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0007t0001g0015	21	296	0.0710	26	c.180 others(45): Show c.1803+1128_1803+1153dupTATATATATATATATATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039332	T T	TATATATA others(19): Show TATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0024 a0003c0003t0001g0024	1	296	0.0034	26	c.180 others(45): Show c.1803+1153_1803+1154insTATATATATATATATATATATACTGA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039332	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	296	0.0034	26	c.180 others(45): Show c.1803+1153_1803+1154insTATATATATATATATATATATATACA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXADR_chr21_17508043_17575100	17534019	T T	TATATAGC others(19): Show TATATAGCTATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	352	0.0028	26	c.44- others(43): Show c.44-13003_44-13002insGCTATATATATATATATACACATATA	CXADR	ENSG00000154639.19	transcript	ENST00000284878.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
CXADR_chr21_17508043_17575100	17534019	T T	TATATATA others(19): Show TATATATAGCTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	352	0.0028	26	c.44- others(43): Show c.44-13001_44-13000insGCTATATATATATATACACATATATA	CXADR	ENSG00000154639.19	transcript	ENST00000284878.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
CXCR2_chr2_218121028_218142251	218138492	C C	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA18939.hp1 HG04204.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	364	0.0055	26	c.26 others(37): Show c.2608_*2609insCTCTCTCTCTCTCTCTCTCTCTCTCT	CXCR2	ENSG00000180871.8	transcript	ENST00000318507.7	protein_coding		1242		chr2	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(19): Show GTGTGTGTGCGTGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0006 a0012c0005t0006	a0012c0005t0006g0026 a0012c0005t0006g0026	1	73	0.0137	26	c.-39 others(37): Show c.-3992_-3991insTGTGCGCGCGCGCGCACGCACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(19): Show GTGTGTGTGTGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00558.hp1 HG00558.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0014 a0006c0006 a0007c0014	a0006c0006t0001 a0007c0014t0001 a0006c0006t0001 a0007c0014t0001	a0006c0006t0001g0009 a0007c0014t0001g0021 a0006c0006t0001g0009 a0007c0014t0001g0021	2	73	0.0274	26	c.-39 others(37): Show c.-3992_-3991insTGTGCGCGCGCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CYB561D1_chr1_109489094_109505435	109503474	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	370	0.0027	26	c.72 others(37): Show c.7215_*7216insTATATATATATATATATATATATATA	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3040		chr1	TogoVar
CYB561D1_chr1_109489094_109505435	109503476	T T	TCATATAT others(19): Show TCATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	370	0.0027	26	c.72 others(37): Show c.7217_*7218insCATATATATATATATATATATATATA	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3042		chr1	TogoVar
CYB561D2_chr3_50345862_50359069	50348125	G G	GAGGGTAG others(19): Show GAGGGTAGGAGGATTGCAATATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	348	0.0029	26	c.-28 others(37): Show c.-2885_-2884insAGGGTAGGAGGATTGCAATATTTTAT	CYB561D2	ENSG00000114395.11	transcript	ENST00000425346.6	protein_coding		2736		chr3	TogoVar
CYB5A_chr18_74245846_74296963	74281743	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02622.hp2 NA19240.hp1 HG01261.hp2 HG02622.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0018 a0001c0002t0003 a0001c0001t0006 a0001c0001t0018 a0001c0002t0003	a0001c0001t0006g0063 a0001c0001t0018g0093 a0001c0002t0003g0302 a0001c0001t0006g0063 a0001c0001t0018g0093 a0001c0002t0003g0302	3	396	0.0076	26	c.129 others(45): Show c.129+10003_129+10004insCACACACACACACACACACACACACA	CYB5A	ENSG00000166347.19	transcript	ENST00000340533.9	protein_coding	1/4			chr18	TogoVar
CYB5R3_chr22_42612840_42654392	42638728	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG02809.hp1 others(3): Show HG01175.hp1 HG01358.hp2 HG02809.hp1 HG03239.hp2 NA19005.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0003c0005t0059 a0003c0005t0061	a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0002g0210 others(3): Show a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0002g0210 a0001c0001t0004g0232 a0003c0005t0059g0318 a0003c0005t0061g0317	6	360	0.0167	26	c.22- others(41): Show c.22-1883_22-1882insTTTTTTTTTTTTTTTTTTTTTTTTTT	CYB5R3	ENSG00000100243.22	transcript	ENST00000352397.10	protein_coding	1/8			chr22	TogoVar
CYFIP1_chr15_22862052_22985368	22875885	C C	CATACATA others(19): Show CATACATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0217 a0002c0003t0005g0217	1	342	0.0029	26	c.304 others(43): Show c.3043-615_3043-614insATATATATATATATATATGTATGTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	26/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22952659	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03453.hp2 HG02717.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0012 a0002c0003t0009 a0001c0002t0012 a0002c0003t0009	a0001c0002t0012g0300 a0002c0003t0009g0095 a0001c0002t0012g0300 a0002c0003t0009g0095	2	342	0.0059	26	c.-6- others(41): Show c.-6-5369_-6-5368insTTTTTTTTTTTTTTTTTTTTTTTTTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYLC1_chrX_83856146_83891698	83877920	A A	ATATATAA others(19): Show ATATATAAATATAAATATATATATTTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	208	0.0048	26	c.192 others(45): Show c.1923+3354_1923+3379dupAATATATATATTTGTATATAAATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878013	T T	TATATAAA others(19): Show TATATAAATATATATATTTGTATATAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19004.hp1 NA18952.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0042 a0001c0001t0001g0043	2	208	0.0096	26	c.192 others(45): Show c.1923+3385_1923+3386insTAAATATATATATTTGTATATAAATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP19A1_chr15_51203057_51343596	51223593	T T	TCTCTCAC others(19): Show TCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01255.hp1 HG01978.hp1 others(4): Show HG00621.hp2 HG01255.hp1 HG01978.hp1 HG02004.hp2 NA18990.hp2 NA19067.hp1 NA19082.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0001 a0006c0010t0001 a0001c0002t0001 a0006c0010t0001	a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 others(4): Show a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0091 a0001c0002t0001g0170 a0001c0002t0001g0191 a0006c0010t0001g0237	7	306	0.0229	26	c.452 others(43): Show c.452-1069_452-1068insTGTGTGTGTGTGTGTGTGTGTGAGAG	CYP19A1	ENSG00000137869.16	transcript	ENST00000396402.6	protein_coding	4/9			chr15	TogoVar
CYP19A1_chr15_51203057_51343596	51223593	T T	TCTCTCTC others(19): Show TCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0148 a0001c0002t0006g0148	1	306	0.0033	26	c.452 others(43): Show c.452-1069_452-1068insTGTGTGTGTGTGTGTGTGTGAGAGAG	CYP19A1	ENSG00000137869.16	transcript	ENST00000396402.6	protein_coding	4/9			chr15	TogoVar
CYP1A1_chr15_74714542_74730528	74714561	G G	GTATATAT others(19): Show GTATATATTATATATGTGTATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00741.hp1 others(23): Show HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG02071.hp2 HG02257.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG04228.hp1 NA18612.hp1 NA18984.hp2 NA18998.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017	26	434	0.0599	26	c.59 others(37): Show c.5927_*5928insTTATATATACACATATATAATATATA	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		4980		chr15	TogoVar
CYP1A1_chr15_74714542_74730528	74715129	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	434	0.0023	26	c.53 others(37): Show c.5359_*5360insTATATATATATATATATATATATATA	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		4412		chr15	TogoVar
CYP20A1_chr2_203234018_203311026	203251793	G G	GTATATAT others(19): Show GTATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0174 a0001c0001t0110g0174	1	334	0.0030	26	c.290 others(41): Show c.290-151_290-150insGTATATATATATATATATATATATAT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP27A1_chr2_218777147_218820293	218780459	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01496.hp2 HG01975.hp2 others(8): Show HG01175.hp1 HG01496.hp2 HG01975.hp2 HG02083.hp2 HG02602.hp1 HG03130.hp1 HG03540.hp2 NA18984.hp2 NA19043.hp1 NA19062.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0030 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0098 a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0001g0186 a0002c0004t0001g0159	11	298	0.0369	26	c.-17 others(37): Show c.-1724_-1723insATATATATATATATATATATATATAT	CYP27A1	ENSG00000135929.9	transcript	ENST00000258415.9	protein_coding		1687		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204555	G G	GAGAGAAA others(19): Show GAGAGAAAGAAAGAAAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0019 a0002c0003t0010g0019	1	352	0.0028	26	c.474 others(41): Show c.474-985_474-984insTTCTCTCTTTCTTTCTTTCTTTCTCT	CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8			chr2	TogoVar
CYP2B6_chr19_40986282_41023398	40992201	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0010 a0007c0007t0010	a0007c0007t0010g0053 a0007c0007t0010g0053	1	440	0.0023	26	c.171 others(41): Show c.171+745_171+746insAAAAAAAAAAAAAAAAAAAAAAAAAA	CYP2B6	ENSG00000197408.10	transcript	ENST00000324071.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2C18_chr10_94678729_94741190	94712008	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00741.hp2 others(19): Show HG00609.hp2 HG00621.hp2 HG00741.hp2 HG01071.hp1 HG02135.hp2 HG02280.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02970.hp1 HG03486.hp2 HG03491.hp2 HG03669.hp2 HG03942.hp2 HG06807.hp2 NA18943.hp1 NA18951.hp2 NA18967.hp2 NA19000.hp1 NA19075.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0002c0011t0003	a0001c0001t0001g0025 a0002c0002t0003g0010 a0002c0002t0003g0072 others(16): Show a0001c0001t0001g0025 a0002c0002t0003g0010 a0002c0002t0003g0072 a0002c0002t0003g0096 a0002c0002t0003g0119 a0002c0002t0003g0122 a0002c0002t0003g0125 a0002c0002t0004g0010 a0002c0002t0004g0074 a0002c0002t0004g0078 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0097 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0100 a0002c0002t0004g0112 a0002c0002t0004g0246 a0002c0011t0003g0077	22	378	0.0582	26	c.819 others(43): Show c.819+5068_819+5069insTTTTTTTTTTTTTTTTTTTTTTTTTT	CYP2C18	ENSG00000108242.13	transcript	ENST00000285979.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19011.hp1 HG02809.hp2 NA19011.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0246 a0006c0009t0001g0243 a0001c0001t0001g0246 a0006c0009t0001g0243	2	374	0.0054	26	c.335 others(41): Show c.335-623_335-622insCTCTATATATATATATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar

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