JoGo: Joint Open Genome and Omics Platform

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
CYP1B1_chr2_38062509_38081151	38078098	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01346.hp2 HG01515.hp2 others(1): Show HG01071.hp2 HG01346.hp2 HG01515.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	4	368	0.0109	20	c.-23 others(31): Show c.-2340_-2321dupTTTTTTTTTTTTTTTTTTTT	CYP1B1	ENSG00000138061.12	transcript	ENST00000610745.5	protein_coding		1948		chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251793	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG02055.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0134 a0001c0001t0038 a0001c0001t0134	a0001c0001t0038g0145 a0001c0001t0134g0173 a0001c0001t0038g0145 a0001c0001t0134g0173	2	334	0.0060	20	c.290 others(35): Show c.290-169_290-150dupTATATATATATATATATATA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203271082	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0031 a0004c0004t0005g0031	1	334	0.0030	20	c.601 others(37): Show c.601-1587_601-1586insATATATATATATATATATTT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203271082	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0133 a0004c0004t0133	a0004c0004t0133g0032 a0004c0004t0133g0032	1	334	0.0030	20	c.601 others(37): Show c.601-1587_601-1586insATATATATATATATATTTTT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP24A1_chr20_54148446_54178986	54168804	C C	CTCCCTTC others(13): Show CTCCCTTCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18953.hp1 NA18953.hp2 others(1): Show HG00597.hp2 NA18953.hp1 NA18953.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0003 a0001c0003t0001 a0001c0005t0001 a0001c0001t0003 a0001c0003t0001 a0001c0005t0001	a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0003t0001g0175 others(1): Show a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0003t0001g0175 a0001c0005t0001g0334	4	456	0.0088	20	c.640 others(35): Show c.640+787_640+788insAGGAAGGAAGGAAGAAGGGA	CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding	4/11			chr20	TogoVar
CYP24A1_chr20_54148446_54178986	54168846	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01433.hp2 others(5): Show HG01256.hp2 HG01258.hp1 HG01433.hp2 HG02809.hp2 HG03490.hp2 HG04199.hp2 NA19072.hp2 NA20752.hp1	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0009c0033 a0011c0021	a0001c0001t0003 a0001c0002t0002 a0001c0005t0001 others(3): Show a0001c0001t0003 a0001c0002t0002 a0001c0005t0001 a0001c0008t0012 a0009c0033t0001 a0011c0021t0002	a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0002t0002g0315 others(5): Show a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0002t0002g0315 a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0008t0012g0057 a0009c0033t0001g0384 a0011c0021t0002g0220	8	456	0.0175	20	c.640 others(35): Show c.640+726_640+745dupGAAGGAAGGAAGGAAGGAAG	CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding	4/11			chr20	TogoVar
CYP27A1_chr2_218777147_218820293	218780459	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01109.hp2 others(26): Show HG00099.hp2 HG00140.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01261.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03927.hp2 NA18968.hp1 NA18981.hp2 NA20805.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0011c0015	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0011c0015t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 others(23): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0170 a0001c0006t0001g0059 a0001c0006t0001g0060 a0011c0015t0001g0146	29	298	0.0973	20	c.-17 others(31): Show c.-1724_-1723insATATATATATATATATATAT	CYP27A1	ENSG00000135929.9	transcript	ENST00000258415.9	protein_coding		1687		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204485	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0080 a0001c0002t0005g0080	1	352	0.0028	20	c.474 others(35): Show c.474-915_474-914insCCTTTCTTTCTTTCTTTCTT	CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8			chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204555	G G	GAGAGAGA others(13): Show GAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	352	0.0028	20	c.474 others(35): Show c.474-985_474-984insTTCTTTCTTTCTTTCTCTCT	CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8			chr2	TogoVar
CYP2A13_chr19_41083451_41101195	41084332	A A	AAAGAAAA others(13): Show AAAGAAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02896.hp2 HG02897.hp2 others(4): Show HG02004.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp2 HG03710.hp2 HG04228.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0007c0008	a0001c0001t0002 a0001c0001t0003 a0002c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0003 a0005c0005t0002 a0007c0008t0003	a0001c0001t0002g0192 a0001c0001t0003g0080 a0002c0002t0003g0090 others(3): Show a0001c0001t0002g0192 a0001c0001t0003g0080 a0002c0002t0003g0090 a0005c0005t0002g0197 a0005c0005t0002g0199 a0007c0008t0003g0023	7	422	0.0166	20	c.-41 others(31): Show c.-4140_-4139insAAGAAAAGAAAGAAAGAAAG	CYP2A13	ENSG00000197838.5	transcript	ENST00000330436.4	protein_coding		4118		chr19	TogoVar
CYP2A7_chr19_40870439_40887231	40879926	A A	AGGGTATT others(13): Show AGGGTATTGGACATCCATCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp2 HG01928.hp2 others(4): Show HG00621.hp2 HG01243.hp2 HG01928.hp2 NA18612.hp1 NA18989.hp2 NA19056.hp1 NA19077.hp1	a0002 a0021 a0025 a0002 a0021 a0025	a0002c0003 a0021c0025 a0025c0032 a0002c0003 a0021c0025 a0025c0032	a0002c0003t0001 a0002c0003t0003 a0021c0025t0010 others(1): Show a0002c0003t0001 a0002c0003t0003 a0021c0025t0010 a0025c0032t0001	a0002c0003t0001g0035 a0002c0003t0001g0076 a0002c0003t0003g0074 others(3): Show a0002c0003t0001g0035 a0002c0003t0001g0076 a0002c0003t0003g0074 a0021c0025t0010g0115 a0021c0025t0010g0116 a0025c0032t0001g0112	7	398	0.0176	20	c.654 others(35): Show c.654+157_654+158insAGGATGGATGTCCAATACCC	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	4/8			chr19	TogoVar
CYP2A7_chr19_40870439_40887231	40880801	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0001 a0016c0020t0001	a0016c0020t0001g0159 a0016c0020t0001g0159	1	398	0.0025	20	c.344 others(35): Show c.344-174_344-173insTTCTCTCTCTCTCTCTCTCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP2B6_chr19_40986282_41023398	41021663	G G	GTCTATCT others(13): Show GTCTATCTATCTATCTGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG04184.hp2 NA18942.hp2 others(2): Show HG03225.hp2 HG04184.hp2 NA18942.hp2 NA18994.hp2 NA20300.hp1	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0008	a0002c0002 a0005c0005 a0007c0007 others(1): Show a0002c0002 a0005c0005 a0007c0007 a0008c0010	a0002c0002t0052 a0005c0005t0005 a0007c0007t0010 others(1): Show a0002c0002t0052 a0005c0005t0005 a0007c0007t0010 a0008c0010t0005	a0002c0002t0052g0113 a0005c0005t0005g0018 a0007c0007t0010g0062 others(1): Show a0002c0002t0052g0113 a0005c0005t0005g0018 a0007c0007t0010g0062 a0008c0010t0005g0173	5	440	0.0114	20	c.48 others(31): Show c.4836_*4837insTCTATCTATCTATCTGTCTA	CYP2B6	ENSG00000197408.10	transcript	ENST00000324071.10	protein_coding		3266		chr19	TogoVar
CYP2B6_chr19_40986282_41023398	41021700	T T	TCTATCTA others(13): Show TCTATCTATCTATCTATCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18985.hp1 NA18988.hp1 others(2): Show NA18966.hp2 NA18985.hp1 NA18988.hp1 NA19083.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0022 others(2): Show a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0038 a0002c0002t0001g0088	5	440	0.0114	20	c.48 others(31): Show c.4873_*4874insCTATCTATCTATCTATCTAC	CYP2B6	ENSG00000197408.10	transcript	ENST00000324071.10	protein_coding		3303		chr19	TogoVar
CYP2C18_chr10_94678729_94741190	94712008	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19056.hp1 NA19076.hp2 others(1): Show NA18612.hp2 NA19056.hp1 NA19076.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0114 a0002c0002t0003g0120 a0002c0002t0003g0029 a0002c0002t0003g0114 a0002c0002t0003g0120	4	378	0.0106	20	c.819 others(37): Show c.819+5049_819+5068dupTTTTTTTTTTTTTTTTTTTT	CYP2C18	ENSG00000108242.13	transcript	ENST00000285979.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2C19_chr10_94757681_94860547	94779551	T T	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02293.hp1 HG03654.hp2 HG00741.hp2 HG02293.hp1 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0275 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0275	3	364	0.0082	20	c.482 others(35): Show c.482-929_482-928insCTTTTCTTTTCTTTTCTTTT	CYP2C19	ENSG00000165841.11	transcript	ENST00000371321.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2C8_chr10_95031772_95074497	95066119	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0160 a0002c0003t0002g0160	1	376	0.0027	20	c.481 others(37): Show c.481+1069_481+1088dupTCTCTCTCTCTCTCTCTCTC	CYP2C8	ENSG00000138115.15	transcript	ENST00000371270.6	protein_coding	3/8			chr10	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTATAT others(13): Show CTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	374	0.0027	20	c.335 others(35): Show c.335-623_335-622insCTATATATATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp2 NA18971.hp2 others(1): Show HG02970.hp2 HG03041.hp2 NA18971.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 others(1): Show a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0004g0245	4	374	0.0107	20	c.335 others(35): Show c.335-623_335-622insCTCTATATATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18989.hp2 HG01192.hp1 NA18989.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0001 a0010c0014t0001 a0001c0001t0001 a0010c0014t0001	a0001c0001t0001g0259 a0010c0014t0001g0256 a0001c0001t0001g0259 a0010c0014t0001g0256	2	374	0.0054	20	c.335 others(35): Show c.335-623_335-622insCTCTCTATATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19087.hp2 HG02738.hp2 NA19087.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0025 a0001c0001 a0016c0025	a0001c0001t0001 a0016c0025t0001 a0001c0001t0001 a0016c0025t0001	a0001c0001t0001g0269 a0016c0025t0001g0265 a0001c0001t0001g0269 a0016c0025t0001g0265	2	374	0.0054	20	c.335 others(35): Show c.335-623_335-622insCTCTCTCTATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02717.hp1 HG02976.hp1 others(1): Show HG00733.hp2 HG02717.hp1 HG02976.hp1 NA18946.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0006c0009t0016 a0001c0001t0001 a0006c0009t0001 a0006c0009t0016	a0001c0001t0001g0280 a0001c0001t0001g0336 a0006c0009t0001g0174 others(1): Show a0001c0001t0001g0280 a0001c0001t0001g0336 a0006c0009t0001g0174 a0006c0009t0016g0279	4	374	0.0107	20	c.335 others(35): Show c.335-623_335-622insCTCTCTCTCTATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02647.hp2 HG01346.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0337 a0001c0001t0001g0293 a0001c0001t0001g0337	2	374	0.0054	20	c.335 others(35): Show c.335-623_335-622insCTCTCTCTCTCTATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03831.hp2 NA18940.hp2 others(1): Show HG01106.hp1 HG03831.hp2 NA18940.hp2 NA18947.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0015 a0007c0008t0007 a0001c0001t0001 a0001c0001t0015 a0007c0008t0007	a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0015g0308 others(1): Show a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0015g0308 a0007c0008t0007g0304	4	374	0.0107	20	c.335 others(35): Show c.335-623_335-622insCTCTCTCTCTCTCTATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18986.hp1 HG02809.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0310 a0001c0001t0001g0205 a0001c0001t0001g0310	2	374	0.0054	20	c.335 others(35): Show c.335-623_335-622insCTCTCTCTCTCTCTCTATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0315 a0007c0008t0007g0315	1	374	0.0027	20	c.335 others(35): Show c.335-623_335-622insCTCTCTCTCTCTCTCTCTAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119748	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03491.hp2 NA18948.hp1 HG01256.hp1 HG03491.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0224 a0001c0001t0001g0319 a0001c0001t0004g0163 a0001c0001t0001g0224 a0001c0001t0001g0319 a0001c0001t0004g0163	3	374	0.0080	20	c.335 others(35): Show c.335-598_335-597insTATATATATATATACACACA	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2S1_chr19_41188219_41212539	41205342	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01934.hp1 others(18): Show HG00597.hp2 HG00609.hp1 HG01934.hp1 HG01934.hp2 HG02080.hp1 HG02083.hp1 HG02572.hp1 HG02698.hp1 HG03239.hp1 HG03654.hp2 HG04204.hp1 HG04204.hp2 NA18942.hp2 NA18949.hp1 NA18956.hp1 NA18957.hp2 NA18983.hp1 NA18990.hp2 NA18999.hp2 NA19056.hp2 NA19085.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0026 others(1): Show a0001c0001 a0001c0002 a0001c0026 a0008c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0026t0001 a0008c0015t0001	a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0057 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0094 a0001c0001t0001g0190 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0003g0010 a0001c0001t0009g0010 a0001c0002t0001g0040 a0001c0002t0001g0143 a0001c0002t0003g0113 a0001c0026t0001g0061 a0008c0015t0001g0200	21	422	0.0498	20	c.116 others(37): Show c.1165-594_1165-575dupTTCTTTCTTTCTTTCTTTCT	CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03540.hp2 HG01255.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	2	382	0.0052	20	c.491 others(35): Show c.491-119_491-118insATATATATATATATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP2U1_chr4_107926549_107958461	107955324	A A	AACACACA others(13): Show AACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03225.hp1 NA19240.hp1 others(1): Show HG02622.hp2 HG03225.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0080 a0001c0001t0002g0116 a0001c0001t0002g0117 others(1): Show a0001c0001t0002g0080 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0009g0066	4	382	0.0105	20	c.49 others(31): Show c.4901_*4902insACACACACACACACACACAC	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding		1864		chr4	TogoVar
CYP2W1_chr7_978181_994640	987902	T T	TCTGTGTG others(13): Show TCTGTGTGTCCTGGGGATCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0063 a0006c0007t0001g0063	1	408	0.0025	20	c.114 others(37): Show c.1144-359_1144-340dupATCCCCTGTGTGTCCTGGGG	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP2W1_chr7_978181_994640	988038	G G	GTGTGTCC others(13): Show GTGTGTCCTGGGGGTCCCCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG03195.hp1 HG02647.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	3	408	0.0074	20	c.114 others(37): Show c.1144-227_1144-226insGTCCCCTCTGTGTCCTGGGG	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP46A1_chr14_99679298_99732301	99722644	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03834.hp2 HG03927.hp2 others(1): Show HG02717.hp2 HG03834.hp2 HG03927.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0091 a0001c0001t0001g0093	4	374	0.0107	20	c.117 others(37): Show c.1176+594_1176+613dupTGTGTGTGTGTGTGTGTGTG	CYP46A1	ENSG00000036530.9	transcript	ENST00000261835.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
CYP4B1_chr1_46794046_46824413	46800238	T T	TTTCTTTC others(13): Show TTTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0054 a0004c0004t0004g0054	1	400	0.0025	20	c.180 others(35): Show c.180+980_180+981insTTTCCTTCCTTCCTTCCTTC	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46800298	C C	CTTCCTTC others(13): Show CTTCCTTCCTCCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA20905.hp1 HG02148.hp1 NA20905.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0024 a0002c0002 a0011c0024	a0002c0002t0002 a0011c0024t0002 a0002c0002t0002 a0011c0024t0002	a0002c0002t0002g0101 a0011c0024t0002g0102 a0002c0002t0002g0101 a0011c0024t0002g0102	2	400	0.0050	20	c.180 others(37): Show c.180+1040_180+1041insCTTCCTCCCTTCTTTCTTTC	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46816581	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18977.hp1 NA20752.hp1 HG03710.hp2 NA18977.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0119 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0119	3	400	0.0075	20	c.107 others(37): Show c.1074-462_1074-443dupACACACACACACACACACAC	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4F11_chr19_15907377_15939529	15919521	T T	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0169 a0002c0001t0004g0169	1	386	0.0026	20	c.111 others(39): Show c.1115+2515_1115+2516insGTCTATCTATCTATCTATCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	8/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15923238	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG01891.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0022 a0001c0008 a0002c0022	a0001c0008t0110 a0002c0022t0076 a0001c0008t0110 a0002c0022t0076	a0001c0008t0110g0370 a0002c0022t0076g0034 a0001c0008t0110g0370 a0002c0022t0076g0034	2	386	0.0052	20	c.918 others(35): Show c.918+554_918+573dupAGAGAGAGAGAGAGAGAGAG	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	6/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15926808	C C	CATGTACC others(13): Show CATGTACCAAGAGTGATCCCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0144 a0001c0002t0144	a0001c0002t0144g0144 a0001c0002t0144g0144	1	386	0.0026	20	c.525 others(35): Show c.525+384_525+403dupTGGGATCACTCTTGGTACAT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	4/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15926859	C C	CACACACT others(13): Show CACACACTTGTTAAGTATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0028 a0003c0003t0028	a0003c0003t0028g0107 a0003c0003t0028g0107	1	386	0.0026	20	c.525 others(35): Show c.525+333_525+352dupATTATACTTAACAAGTGTGT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	4/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15927651	A A	ACCAGACC others(13): Show ACCAGACCAGGCTGCAGCGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0029 a0001c0004t0002g0029	1	386	0.0026	20	c.344 others(35): Show c.344-188_344-169dupGTCGCTGCAGCCTGGTCTGG	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	2/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15929898	C C	CTTGGACA others(13): Show CTTGGACATGAGAACTCCAGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0130 a0001c0002t0130	a0001c0002t0130g0149 a0001c0002t0130g0149	1	386	0.0026	20	c.199 others(35): Show c.199-317_199-298dupCCTGGAGTTCTCATGTCCAA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15930526	A A	AGGTTGCA others(13): Show AGGTTGCAGTGAGCTGAGATC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0180 a0002c0001t0180	a0002c0001t0180g0350 a0002c0001t0180g0350	1	386	0.0026	20	c.199 others(35): Show c.199-945_199-926dupGATCTCAGCTCACTGCAACC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	C C	CAGAGGAA others(13): Show CAGAGGAATGAGTGAGTGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02698.hp1 HG02897.hp2 others(1): Show HG01891.hp2 HG02698.hp1 HG02897.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0002c0022 a0001c0004 a0002c0001 a0002c0022	a0001c0004t0023 a0001c0004t0034 a0002c0001t0006 others(1): Show a0001c0004t0023 a0001c0004t0034 a0002c0001t0006 a0002c0022t0076	a0001c0004t0023g0032 a0001c0004t0034g0038 a0002c0001t0006g0003 others(1): Show a0001c0004t0023g0032 a0001c0004t0034g0038 a0002c0001t0006g0003 a0002c0022t0076g0034	4	386	0.0104	20	c.199 others(37): Show c.199-1925_199-1924insCCTCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931529	G G	GGAATCAG others(13): Show GGAATCAGTGAGTGAGGAGAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0072 a0001c0004t0072	a0001c0004t0072g0033 a0001c0004t0072g0033	1	386	0.0026	20	c.199 others(37): Show c.199-1929_199-1928insTTCTCCTCACTCACTGATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931529	G G	GGAATGAG others(13): Show GGAATGAGTGAGTGAGGAGAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG01261.hp2 others(9): Show HG01168.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp2 HG01928.hp1 HG02004.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18981.hp2 NA19089.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0005c0010	a0001c0002t0003 a0001c0002t0011 a0001c0002t0118 others(8): Show a0001c0002t0003 a0001c0002t0011 a0001c0002t0118 a0001c0004t0002 a0001c0004t0023 a0001c0004t0071 a0001c0004t0074 a0002c0001t0015 a0002c0001t0057 a0002c0001t0058 a0005c0010t0036	a0001c0002t0003g0294 a0001c0002t0011g0234 a0001c0002t0011g0238 others(9): Show a0001c0002t0003g0294 a0001c0002t0011g0234 a0001c0002t0011g0238 a0001c0002t0118g0240 a0001c0004t0002g0029 a0001c0004t0023g0026 a0001c0004t0071g0046 a0001c0004t0074g0048 a0002c0001t0015g0161 a0002c0001t0057g0338 a0002c0001t0058g0369 a0005c0010t0036g0129	12	386	0.0311	20	c.199 others(37): Show c.199-1929_199-1928insTTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	C C	CGAGGAGA others(13): Show CGAGGAGAAGAATGAGTGAGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02523.hp2 HG00544.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0019 a0001c0004t0002g0020 a0001c0004t0002g0019 a0001c0004t0002g0020	2	386	0.0052	20	c.199 others(37): Show c.199-1941_199-1940insACTCACTCATTCTTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	C C	CGAGGAGA others(13): Show CGAGGAGAGGAATGAGTGAGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02523.hp1 NA20805.hp1 HG01516.hp2 HG02523.hp1 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0014 a0003c0003t0046 a0002c0001t0014 a0003c0003t0046	a0002c0001t0014g0174 a0002c0001t0014g0191 a0003c0003t0046g0092 a0002c0001t0014g0174 a0002c0001t0014g0191 a0003c0003t0046g0092	3	386	0.0078	20	c.199 others(37): Show c.199-1941_199-1940insACTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931549	G G	GGAATGAG others(13): Show GGAATGAGTGAGTGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01891.hp1 HG02976.hp1 others(9): Show HG00438.hp2 HG01891.hp1 HG02976.hp1 HG03831.hp1 NA18952.hp1 NA18960.hp1 NA18974.hp2 NA18981.hp1 NA18989.hp2 NA19002.hp2 NA19082.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0027 a0001c0002t0050 a0001c0002t0141 others(4): Show a0001c0002t0027 a0001c0002t0050 a0001c0002t0141 a0001c0004t0002 a0001c0004t0073 a0001c0005t0007 a0001c0005t0105	a0001c0002t0027g0278 a0001c0002t0050g0224 a0001c0002t0141g0299 others(9): Show a0001c0002t0027g0278 a0001c0002t0050g0224 a0001c0002t0141g0299 a0001c0004t0002g0021 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0035 a0001c0004t0002g0043 a0001c0004t0073g0022 a0001c0005t0007g0065 a0001c0005t0007g0068 a0001c0005t0105g0067	12	386	0.0311	20	c.199 others(37): Show c.199-1949_199-1948insTTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931552	A A	ATGAGTGA others(13): Show ATGAGTGAGTGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA20805.hp2 HG00099.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0176 a0002c0001t0015g0180 a0002c0001t0015g0176 a0002c0001t0015g0180	2	386	0.0052	20	c.199 others(37): Show c.199-1952_199-1951insCTCCTCTCCTCACTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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