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
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA19011.hp2 HG02897.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0260 a0001c0001t0001g0167 a0001c0001t0001g0260	2	374	0.0054	26	c.335 others(41): Show c.335-623_335-622insCTCTCTATATATATATATATATATAT	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(19): Show CTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	374	0.0027	26	c.335 others(41): Show c.335-623_335-622insCTCTCTCTATATATATATATATATAT	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(19): Show CTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02717.hp2 HG00544.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0283 a0001c0001t0001g0285	2	374	0.0054	26	c.335 others(41): Show c.335-623_335-622insCTCTCTCTCTATATATATATATATAT	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(19): Show CTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18975.hp2 HG02083.hp2 NA18975.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0008 a0010c0014t0001 a0001c0001t0008 a0010c0014t0001	a0001c0001t0008g0295 a0010c0014t0001g0294 a0001c0001t0008g0295 a0010c0014t0001g0294	2	374	0.0054	26	c.335 others(41): Show c.335-623_335-622insCTCTCTCTCTCTATATATATATATAT	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(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18991.hp1 NA19079.hp2 HG02922.hp2 NA18991.hp1 NA19079.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0314 a0001c0001t0001g0341 a0006c0009t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0341 a0006c0009t0001g0312	3	374	0.0080	26	c.335 others(41): Show c.335-623_335-622insCTCTCTCTCTCTCTCTATATATATAT	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(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	374	0.0027	26	c.335 others(41): Show c.335-623_335-622insCTCTCTCTCTCTCTCTCTATATATAT	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(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	374	0.0027	26	c.335 others(41): Show c.335-598_335-597insTATATATATATATATATATATACACA	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATACATA others(19): Show CATACATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0127 a0001c0001t0017g0127	1	382	0.0026	26	c.491 others(41): Show c.491-128_491-127insCATATATATATATATATACATATATA	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp2 NA18971.hp1 others(3): Show HG02965.hp2 HG03130.hp2 NA18971.hp1 NA18979.hp1 NA19000.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0184 a0001c0001t0002g0015 a0001c0001t0004g0057 a0001c0001t0001g0184 a0001c0001t0002g0015 a0001c0001t0004g0057	6	382	0.0157	26	c.491 others(41): Show c.491-119_491-118insATATATATATATATATATATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4A22_chr1_47132441_47154727	47150246	C C	CCTCTATC others(19): Show CCTCTATCTTCCCTCCTCTCTAGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0041 a0003c0003t0003g0041	1	440	0.0023	26	c.14 others(37): Show c.1449_*1450insCTCTATCTTCCCTCCTCTCTAGAATA	CYP4A22	ENSG00000162365.13	transcript	ENST00000371891.8	protein_coding		520		chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46800238	T T	TTTTTCTT others(19): Show TTTTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18950.hp2 HG01109.hp1 NA18950.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0124 a0003c0003t0003g0206 a0002c0002t0002g0124 a0003c0003t0003g0206	2	400	0.0050	26	c.180 others(41): Show c.180+979_180+980insTTCTTTCCTTCCTTCCTTCCTTCCTT	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46816579	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0065	1	400	0.0025	26	c.107 others(43): Show c.1074-468_1074-467insCACACACACACACACACACACACACA	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46816581	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(42): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01358.hp2 HG01943.hp1 HG02040.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02486.hp1 HG02602.hp1 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03486.hp1 HG03831.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18950.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18997.hp2 NA19000.hp1 NA19010.hp1 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19082.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0020 a0001c0001 a0002c0002 a0002c0020	a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0004 a0002c0020t0002	a0001c0001t0002g0141 a0002c0002t0002g0002 a0002c0002t0002g0014 others(21): Show a0001c0001t0002g0141 a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0059 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0093 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0137 a0002c0002t0004g0008 a0002c0002t0004g0106 a0002c0002t0004g0109 a0002c0002t0004g0110 a0002c0020t0002g0002	45	400	0.1125	26	c.107 others(43): Show c.1074-443_1074-442insACACACACACACACACACACACACAC	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4F3_chr19_15635897_15667825	15650868	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	424	0.0024	26	c.918 others(41): Show c.918+686_918+687insCTCTCTCTCTCTCTCTCTCTCTCTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15653735	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0355 a0001c0002t0023g0355	1	424	0.0024	26	c.111 others(43): Show c.1115+809_1115+834dupAGAGAGAGAGAGAGAGAGAGAGAGAG	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15662272	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0358 a0001c0002t0068g0358	1	424	0.0024	26	c.29 others(37): Show c.2907_*2908insAAAAAAAAAAAAAAAAAAAAAAAAAA	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	13/13	2908	INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4X1_chr1_47018669_47055751	47036368	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG02486.hp2 others(2): Show HG00423.hp1 HG00673.hp2 HG02486.hp2 NA19066.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0022 a0001c0001t0001g0128 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0002t0004g0095	5	350	0.0143	26	c.775 others(41): Show c.775+198_775+199insATATATATATATATATATATATATAT	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4X1_chr1_47018669_47055751	47036370	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01943.hp2 HG02257.hp1 others(14): Show HG01081.hp1 HG01943.hp2 HG02257.hp1 HG02615.hp1 HG02965.hp2 HG03209.hp2 HG03516.hp2 HG03579.hp2 NA18941.hp1 NA18952.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18990.hp2 NA18991.hp1 NA19010.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0088	17	350	0.0486	26	c.775 others(41): Show c.775+215_775+216insTATATATATATATATATATATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4Z1_chr1_47062231_47123318	47076844	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG01943.hp1 others(9): Show HG00738.hp1 HG01496.hp1 HG01943.hp1 HG03209.hp1 HG03654.hp1 HG04204.hp2 NA18962.hp1 NA18962.hp2 NA18984.hp1 NA18987.hp1 NA19064.hp2 NA20752.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0007 a0005c0009 a0001c0001 a0004c0007 a0005c0009	a0001c0001t0001 a0004c0007t0001 a0005c0009t0001 a0001c0001t0001 a0004c0007t0001 a0005c0009t0001	a0001c0001t0001g0034 a0001c0001t0001g0111 a0001c0001t0001g0117 others(8): Show a0001c0001t0001g0034 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0004c0007t0001g0115 a0005c0009t0001g0136	12	318	0.0377	26	c.320 others(43): Show c.320-3761_320-3760insAAAAAAAAAAAAAAAAAAAAAAAAAA	CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP7B1_chr8_64585851_64803737	64730751	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0004 a0002c0002t0009g0004	1	258	0.0039	26	c.122 others(45): Show c.122+67689_122+67714dupTGTGTGTGTGTGTGTGTGTGTGTGTG	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64771047	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0012 a0002c0002t0039g0012	1	258	0.0039	26	c.122 others(45): Show c.122+27393_122+27418dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIA_chr2_16544459_16670834	16610897	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19002.hp2 NA18943.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0247 a0001c0001t0001g0016 a0001c0001t0001g0247	2	290	0.0069	26	c.-11 others(45): Show c.-11+12941_-11+12966dupATATATATATATATATATATATATAT	CYRIA	ENSG00000197872.11	transcript	ENST00000381323.7	protein_coding	2/11			chr2	TogoVar
CYRIB_chr8_129834593_130021560	129883112	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	288	0.0035	26	c.-10 others(43): Show c.-10-3667_-10-3642dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	4/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01884.hp2 others(2): Show HG00738.hp1 HG01243.hp1 HG01884.hp2 HG02027.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0116 a0001c0001t0001g0161 a0001c0001t0001g0213 others(2): Show a0001c0001t0001g0116 a0001c0001t0001g0161 a0001c0001t0001g0213 a0001c0001t0001g0255 a0001c0001t0004g0007	5	288	0.0174	26	c.-13 others(47): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01106.hp2 HG01168.hp1 others(14): Show HG00621.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02155.hp1 HG02896.hp2 NA18971.hp2 NA19054.hp1 NA19082.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 others(14): Show a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0178 a0001c0001t0002g0198 a0001c0001t0017g0088	17	288	0.0590	26	c.-13 others(47): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA AA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYSTM1_chr5_140170188_140248789	140212983	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp1 NA18988.hp1 others(1): Show HG00558.hp1 HG02080.hp1 NA18988.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089	4	324	0.0124	26	c.187 others(45): Show c.187+18332_187+18333insGTATATATATATATATATATATATAT	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH1_chr17_78669048_78787273	78760508	T T	TATATATG others(19): Show TATATATGTATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0178 a0001c0001t0001g0179	2	378	0.0053	26	c.22+ others(43): Show c.22+21693_22+21694insGTATGTATATATATATATACATATAT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
CYTH2_chr19_48464369_48487314	48471166	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02155.hp2 others(6): Show HG00408.hp1 HG00438.hp1 HG02155.hp2 HG02809.hp2 HG02818.hp2 HG03453.hp2 HG03579.hp2 NA18952.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0028 a0001c0002t0004 others(1): Show a0001c0001t0016 a0001c0001t0028 a0001c0002t0004 a0001c0002t0030	a0001c0001t0016g0034 a0001c0001t0016g0043 a0001c0001t0028g0035 others(4): Show a0001c0001t0016g0034 a0001c0001t0016g0043 a0001c0001t0028g0035 a0001c0002t0004g0015 a0001c0002t0004g0090 a0001c0002t0004g0091 a0001c0002t0030g0092	9	366	0.0246	26	c.234 others(41): Show c.234+511_234+512insTGTGTGTGTGTGTGTGTGTGTGTGTG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYYR1_chr21_26461216_26578286	26520111	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19091.hp1 HG00639.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0211 a0001c0001t0007g0048 a0001c0001t0001g0211 a0001c0001t0007g0048	2	316	0.0063	26	c.177 others(45): Show c.177-39683_177-39682insATATATATATATATATATATATATAT	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding	2/3			chr21	TogoVar
CYYR1_chr21_26461216_26578286	26520113	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	316	0.0032	26	c.177 others(45): Show c.177-39710_177-39685dupATATATATATATATATATATATATAT	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding	2/3			chr21	TogoVar
DAAM1_chr14_59183667_59376403	59288832	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0209 a0001c0003t0003g0209	1	298	0.0034	26	c.184 others(43): Show c.184-2381_184-2356dupAGAGAGAGAGAGAGAGAGAGAGAGAG	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59289767	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18994.hp2 NA19077.hp1 HG01943.hp1 NA18994.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0200 a0001c0001t0001g0234 a0001c0001t0006g0236 a0001c0001t0001g0200 a0001c0001t0001g0234 a0001c0001t0006g0236	3	298	0.0101	26	c.184 others(43): Show c.184-1433_184-1432insTATATATATATATATATATATATATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59327402	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp1 HG02486.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0018 a0001c0003t0005g0213 a0001c0003t0005g0018 a0001c0003t0005g0213	2	298	0.0067	26	c.137 others(43): Show c.1372+435_1372+436insTTTTTTTTTTTTTTTTTTTTTTTTTT	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM2_chr6_39787376_39909869	39815651	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	300	0.0033	26	c.-57 others(45): Show c.-57+23195_-57+23220dupACACACACACACACACACACACACAC	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
DAB1_chr1_56989778_57429060	57053688	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	138	0.0073	26	c.723 others(43): Show c.723+9195_723+9196insAAAAAAAAAATATATATATATATATA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	9/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57207446	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	138	0.0073	26	c.68- others(43): Show c.68-62018_68-62017insAAAAAAAAAAAAAAAAAAAAAAAAAA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57226670	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	138	0.0073	26	c.67+ others(43): Show c.67+64293_67+64294insATATATATATATATATATATATATAT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57226672	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	138	0.0073	26	c.67+ others(43): Show c.67+64266_67+64291dupATATATATATATATATATATATATAT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DAB2IP_chr9_121646634_121790530	121676641	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG03195.hp2 others(1): Show HG01109.hp2 HG02572.hp1 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0021 a0001c0005t0028 others(1): Show a0001c0003t0002 a0001c0005t0021 a0001c0005t0028 a0001c0005t0029	a0001c0003t0002g0043 a0001c0005t0021g0013 a0001c0005t0028g0206 others(1): Show a0001c0003t0002g0043 a0001c0005t0021g0013 a0001c0005t0028g0206 a0001c0005t0029g0217	4	224	0.0179	26	c.125 others(43): Show c.125-2026_125-2025insACACACACACACACTCACACACACAC	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DACH1_chr13_71432966_71872204	71519883	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03209.hp2 NA19043.hp2 HG02886.hp2 HG03209.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0042 a0002c0002t0001g0071 a0002c0002t0002g0068 a0001c0001t0001g0042 a0002c0002t0001g0071 a0002c0002t0002g0068	3	102	0.0294	26	c.157 others(47): Show c.1571-30736_1571-30735insTATATATATATATATATATATATA TA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71519883	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	102	0.0098	26	c.157 others(47): Show c.1571-30736_1571-30735insTATATATATATATATATATATATA CA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71529183	G G	GTTTTTTT others(19): Show GTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0006 a0003c0003t0013g0006	1	102	0.0098	26	c.157 others(47): Show c.1570+27840_1570+27841insAAAAAAAAAAAAAAAACAAAAAAA AA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71529183	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0005 a0003c0003t0002g0005	1	102	0.0098	26	c.157 others(47): Show c.1570+27840_1570+27841insAAAAAAAAAAAAAAAAAAAAAAAA AA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71779210	T T	TATATACG others(19): Show TATATACGTATATACGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02559.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0010t0001 a0002c0002t0001 a0002c0010t0001	a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0010t0001g0084 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0010t0001g0084	3	102	0.0294	26	c.848 others(45): Show c.848+86711_848+86712insGTGTATATATACGTATATACGTATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71779294	C C	CATATATA others(19): Show CATATATACGTATATACGTATATACAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02559.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0010t0001 a0002c0002t0001 a0002c0010t0001	a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0010t0001g0084 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0010t0001g0084	3	102	0.0294	26	c.848 others(45): Show c.848+86627_848+86628insATGTATATACGTATATACGTATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86147115	A A	AAAAAAAA others(19): Show AAAAAAAAAAAGTATGTATATGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18959.hp1 NA18970.hp1 others(2): Show NA18939.hp2 NA18959.hp1 NA18970.hp1 NA18983.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0144 others(2): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0004t0001g0150	5	166	0.0301	26	c.-15 others(37): Show c.-1506_-1505insAAAAAAAAAAGTATGTATATGTGTGT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding		1335		chrX	TogoVar
DACH2_chrX_86143451_86837602	86180176	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19002.hp1 HG02040.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0143 a0001c0001t0001g0148	2	166	0.0121	26	c.488 others(45): Show c.488+31074_488+31099dupATATATATATATATATATATATATAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	166	0.0060	26	c.488 others(47): Show c.488+105700_488+105701insTATATATATAGAGAGAGAGAGAGA GA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	166	0.0060	26	c.488 others(47): Show c.488+105700_488+105701insTATATATATATATAGAGAGAGAGA GA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(19): Show TATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	166	0.0060	26	c.488 others(47): Show c.488+105700_488+105701insTATATATATATATATATATAGAGA GA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar

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