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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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
CSRP3_chr11_19177030_19206983	19197501	C C	CTCTTTCG others(33): Show CTCTTTCGTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	416	0.0024	40	c.-29 others(57): Show c.-29+4452_-29+4453insAAGAAAGAAAGAAAGAAAGAAAGAAGGA AAGAACGAAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST7_chr20_24944269_24964928	24957026	G G	GAGGGGGC others(33): Show GAGGGGGCAGGTGAGGGAGAACAGGTGAGGGGGGCAGGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG02965.hp2 others(1): Show HG02572.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0012 a0001c0002t0002 a0001c0001t0010 a0001c0001t0012 a0001c0002t0002	a0001c0001t0010g0102 a0001c0001t0010g0104 a0001c0001t0012g0103 others(1): Show a0001c0001t0010g0102 a0001c0001t0010g0104 a0001c0001t0012g0103 a0001c0002t0002g0097	4	350	0.0114	40	c.71- others(53): Show c.71-261_71-260insAGGGGGCAGGTGAGGGAGAACAGGTGAGGGGG GCAGGTGA	CST7	ENSG00000077984.6	transcript	ENST00000480798.2	protein_coding	1/3			chr20	TogoVar
CST9L_chr20_23559732_23573484	23561092	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	392	0.0026	40	c.38 others(51): Show c.3855_*3856insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3639		chr20	TogoVar
CSTA_chr3_122320248_122346969	122333540	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0171 a0002c0003t0001g0171	1	378	0.0027	40	c.67- others(55): Show c.67-3993_67-3954dupAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	CSTA	ENSG00000121552.4	transcript	ENST00000264474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTDP1_chr18_79674803_79759503	79687013	C C	CCAGTTCA others(33): Show CCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03017.hp2 HG03491.hp1 others(1): Show HG01361.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(1): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194	4	378	0.0106	40	c.314 others(57): Show c.314+6785_314+6786insGCTTCGTCAGTTCACTGGTGGGCCTGCA CCGCAGCAGTTG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138916177	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	180	0.0056	40	c.139 others(59): Show c.1390-1551_1390-1550insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79630908	C C	GATACATA others(33): Show GATACATAGATAAGGTATGAAATACATAGATAAGGTATGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	68	0.0147	40	c.-5- others(53): Show c.-5-20644delCinsGATACATAGATAAGGTATGAAATACATAGATAA GGTATGAA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	1/18			chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79850302	C C	CCTCCCTT others(33): Show CCTCCCTTCCTTTCTTCCTTCATCCCTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp1 HG03209.hp2 others(3): Show HG02630.hp2 HG02970.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0014 a0003c0015	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0011t0001 a0001c0014t0001 a0003c0015t0001	a0001c0001t0001g0039 a0001c0002t0002g0025 a0001c0003t0001g0005 others(3): Show a0001c0001t0001g0039 a0001c0002t0002g0025 a0001c0003t0001g0005 a0001c0011t0001g0051 a0001c0014t0001g0016 a0003c0015t0001g0014	6	68	0.0882	40	c.299 others(57): Show c.299-7684_299-7645dupCCCTCCCTCCCTCTCTCCCTTCCTTTCT TCCTTCATCCCT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79850329	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCTCTCCCTTCCTTTCTTCCTTCATCCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02647.hp2 others(8): Show HG01884.hp2 HG02630.hp1 HG02647.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0010t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0042 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0002g0041 a0001c0001t0004g0061 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0023 a0001c0003t0001g0038 a0001c0010t0001g0024	11	68	0.1618	40	c.299 others(57): Show c.299-7670_299-7631dupCTCCCTTCCTTTCTTCCTTCATCCCTGC CTCCCTCCCTCT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79850381	C C	CTCTCCCT others(33): Show CTCTCCCTTCCTTTCTTCCTTCATCCCTCCCTCCCTCCCTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp2 HG02572.hp1 others(1): Show HG01167.hp2 HG02109.hp2 HG02572.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0001c0001t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0001g0053 a0001c0001t0002g0027 a0002c0006t0001g0040 others(1): Show a0001c0001t0001g0053 a0001c0001t0002g0027 a0002c0006t0001g0040 a0002c0006t0001g0060	4	68	0.0588	40	c.299 others(57): Show c.299-7631_299-7630insCTCCCTTCCTTTCTTCCTTCATCCCTCC CTCCCTCCCTGT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80306400	T T	TTTTCTTT others(33): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	68	0.0147	40	c.105 others(61): Show c.1057-86804_1057-86803insTCTTTTCTTTTCTTTTCTTTCTTT CTTTCTTTCTTTCTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80559873	C C	CATATCTA others(33): Show CATATCTATCTATCTATCTATCTATCTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp2 HG02145.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0001 a0001c0001t0001g0039	2	68	0.0294	40	c.174 others(59): Show c.1741+3984_1741+3985insCTATCTATCTATCTATCTATCTATAT ATATATATATATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATGTGTA others(33): Show GATGTGTATATATATATATATATATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0022 a0001c0003t0022g0022	1	46	0.0217	40	c.153 others(61): Show c.1532-42546_1532-42545insATATACATATATATATATATATAT ATATATATATACACAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67025153	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0046 a0002c0002t0026g0046	1	46	0.0217	40	c.104 others(63): Show c.1047+155163_1047+155164insCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	46	0.0217	40	c.293 others(59): Show c.293-26375_293-26374insTATATATATATATATATATATATATA TATATATATATACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(33): Show CATATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19057.hp2 HG01106.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0130 a0001c0003t0002g0136 a0001c0001t0001g0130 a0001c0003t0002g0136	2	226	0.0089	40	c.129 others(59): Show c.1296+5520_1296+5521insATATATATATATATATATATATATAT ATATGTATATATAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGT others(33): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	386	0.0026	40	c.827 others(55): Show c.827+380_827+381insTCCATCCCTCCATCCCTCCATCCCTCCATC CCCACATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(33): Show TCACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	164	0.0061	40	c.81+ others(55): Show c.81+1490_81+1491insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCGCAC others(33): Show GCGCGCACGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	338	0.0030	40	c.-16 others(59): Show c.-161-4742_-161-4741insGCGCACGCGCACACACACACACACAC ACACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101811007_102288958	102060606	T T	TATACATA others(33): Show TATACATATATATATATACACACACACAAATAAACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG02735.hp1 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0009 a0001c0001t0001 a0002c0004t0009	a0001c0001t0001g0074 a0002c0004t0009g0112 a0001c0001t0001g0074 a0002c0004t0009g0112	2	132	0.0152	40	c.223 others(57): Show c.223-9732_223-9731insTACATATATATATATACACACACACAAA TAAACACACACA	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102060606	T T	TATACATA others(33): Show TATACATATATATATATACACACACACAAATAAACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG02735.hp1 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0039 a0001c0002t0001 a0001c0003t0039	a0001c0002t0001g0098 a0001c0003t0039g0030 a0001c0002t0001g0098 a0001c0003t0039g0030	2	136	0.0147	40	c.190 others(57): Show c.190-9732_190-9731insTACATATATATATATACACACACACAAA TAAACACACACA	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111132557	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	100	0.0100	40	c.64- others(57): Show c.64-81616_64-81615insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	100	0.0100	40	c.292 others(59): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCTCCCCCTCTC TCCCTCTCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111330704	T T	TATATACA others(33): Show TATATACATATATATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0004 a0001c0019t0004	a0001c0019t0004g0077 a0001c0019t0004g0077	1	100	0.0100	40	c.292 others(59): Show c.2927-3732_2927-3731insCATATATATATATATATATATATATA TACATATACATATA	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG03486.hp2 HG01516.hp1 HG01517.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0002 a0002c0002t0001 a0002c0004t0002	a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0004t0002g0093 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0004t0002g0093	3	260	0.0115	40	c.670 others(55): Show c.670-646_670-645insTATATATATATATATATATATATATATATA TATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	392	0.0051	40	c.161 others(59): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATATATACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(33): Show GTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02071.hp1 NA18970.hp1 others(3): Show HG01884.hp1 HG02071.hp1 NA18970.hp1 NA19083.hp2 NA19088.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0036 a0003c0003t0002g0043 a0003c0003t0002g0049 others(3): Show a0003c0003t0002g0036 a0003c0003t0002g0043 a0003c0003t0002g0049 a0003c0003t0002g0224 a0003c0003t0002g0295 a0003c0003t0002g0300	6	392	0.0153	40	c.161 others(59): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(33): Show GTGTGTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0038 a0005c0005t0002g0038	1	392	0.0026	40	c.161 others(59): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATACATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039320	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACATACTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	296	0.0034	40	c.180 others(59): Show c.1803+1153_1803+1154insTATATATATATATATATATACATACT GATATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039320	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(24): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00558.hp2 HG00738.hp1 HG01074.hp1 HG01243.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01978.hp1 HG02027.hp1 HG02155.hp2 NA18941.hp1 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18971.hp2 NA18982.hp1 NA18997.hp2 NA19002.hp2 NA19010.hp1 NA19030.hp2 NA19065.hp2 NA19083.hp1 NA20300.hp1 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 others(23): Show a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0102 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0135 a0002c0002t0001g0137 a0003c0003t0001g0005 a0003c0003t0001g0023 a0003c0003t0001g0026 a0003c0003t0001g0030 a0003c0003t0001g0085 a0003c0003t0001g0121 a0003c0003t0001g0133 a0003c0003t0001g0191	27	296	0.0912	40	c.180 others(59): Show c.1803+1153_1803+1154insTATATATATATATATATATATATACT GATATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXCL12_chr10_44372067_44390097	44387704	A A	ATAAATAA others(33): Show ATAAATAAATAAATAAATATGTAAATAAATAAATAAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	442	0.0023	40	c.-27 others(51): Show c.-2700_-2699insCATATTTATTTATTTATTTACATATTTATTTATT TATTTA	CXCL12	ENSG00000107562.18	transcript	ENST00000343575.11	protein_coding		2608		chr10	TogoVar
CYB561D1_chr1_109489094_109505435	109503474	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	370	0.0027	40	c.72 others(51): Show c.7215_*7216insTATATATATATATATATATATATATATATATATA TATATA	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3040		chr1	TogoVar
CYFIP1_chr15_22862052_22985368	22875885	C C	CATACATA others(33): Show CATACATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02965.hp2 HG02622.hp2 HG02630.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0046 a0002c0010 a0001c0007 a0001c0046 a0002c0010	a0001c0007t0010 a0001c0046t0021 a0002c0010t0021 a0001c0007t0010 a0001c0046t0021 a0002c0010t0021	a0001c0007t0010g0101 a0001c0046t0021g0069 a0002c0010t0021g0159 a0001c0007t0010g0101 a0001c0046t0021g0069 a0002c0010t0021g0159	3	342	0.0088	40	c.304 others(57): Show c.3043-615_3043-614insATATATATATATATATATATATATATAT ATATGTATGTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	26/30			chr15	TogoVar
CYFIP2_chr5_157261123_157400594	157381856	A A	ATAGTTGA others(33): Show ATAGTTGAAGAGAAAGCAAACCCCGGCAGAGGATGGCTTCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18939.hp2 NA18950.hp1 HG01993.hp2 NA18939.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0208 a0001c0001t0001g0246 a0001c0001t0018g0232 a0001c0001t0001g0208 a0001c0001t0001g0246 a0001c0001t0018g0232	3	326	0.0092	40	c.304 others(57): Show c.3040-733_3040-694dupTAGTTGAAGAGAAAGCAAACCCCGGCAG AGGATGGCTTCT	CYFIP2	ENSG00000055163.21	transcript	ENST00000620254.5	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYLC1_chrX_83856146_83891698	83878424	T T	TATATATA others(33): Show TATATATAAATATATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	208	0.0048	40	c.192 others(59): Show c.1923+3800_1923+3801insAATATATATATAAATATATATAAATA TATATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC2_chr9_102990333_103023488	103013866	A A	ATATATTA others(33): Show ATATATTATACATATAATAAATAATATATTATATATAATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(11): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00738.hp1 HG01081.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01496.hp1 HG02055.hp2 HG02451.hp2 HG03710.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0021 a0001c0001t0032 others(1): Show a0001c0001t0019 a0001c0001t0021 a0001c0001t0032 a0001c0001t0039	a0001c0001t0019g0267 a0001c0001t0019g0268 a0001c0001t0019g0269 others(9): Show a0001c0001t0019g0267 a0001c0001t0019g0268 a0001c0001t0019g0269 a0001c0001t0019g0270 a0001c0001t0019g0274 a0001c0001t0021g0026 a0001c0001t0021g0265 a0001c0001t0021g0266 a0001c0001t0021g0275 a0001c0001t0032g0272 a0001c0001t0032g0273 a0001c0001t0039g0271	14	448	0.0313	40	c.81 others(59): Show c.816+1782_*816+1821dupATAATAAATAATATATTATATATAAT ATTATATTATACAT	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP19A1_chr15_51203057_51343596	51294492	A A	AGAAGTGA others(33): Show AGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGCCCCATCTGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0273 a0001c0001t0021g0273	1	306	0.0033	40	c.-39 others(59): Show c.-39+43963_-39+44002dupCCAGATGGGGCGGCTGCCGGGCGGAG GGGCTCCTCACTTC	CYP19A1	ENSG00000137869.16	transcript	ENST00000396402.6	protein_coding	1/9			chr15	TogoVar
CYP21A2_chr6_32033415_32046644	32038956	T T	TCAGCCTG others(33): Show TCAGCCTGCCAAGGTGTTGAGCTCCCCTTGGGTGGCGGATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0002 a0001c0051t0002	a0001c0051t0002g0048 a0001c0051t0002g0048	1	459	0.0022	40	c.293 others(55): Show c.293-137_293-136insAGCCTGCCAAGGTGTTGAGCTCCCCTTGGG TGGCGGATCC	CYP21A2	ENSG00000231852.9	transcript	ENST00000644719.2	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
CYP26B1_chr2_72124238_72152862	72144520	G G	GCCCCCAC others(33): Show GCCCCCACCCCCACCCCCACACCCCCACCCCCACCCCCACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG01884.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0043 a0002c0002t0001 a0001c0001t0043 a0002c0002t0001	a0001c0001t0043g0135 a0002c0002t0001g0134 a0001c0001t0043g0135 a0002c0002t0001g0134	2	312	0.0064	40	c.205 others(55): Show c.205-308_205-307insTGTGGGGGTGGGGGTGGGGGTGTGGGGGTG GGGGTGGGGG	CYP26B1	ENSG00000003137.9	transcript	ENST00000001146.7	protein_coding	1/5			chr2	TogoVar
CYP2A13_chr19_41083451_41101195	41084332	A A	AAAGAAAA others(33): Show AAAGAAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02273.hp2 HG03516.hp2 HG02258.hp1 HG02273.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0087 a0001c0001t0002g0163 a0001c0001t0002g0003 a0001c0001t0002g0087 a0001c0001t0002g0163	3	422	0.0071	40	c.-41 others(51): Show c.-4140_-4139insAAGAAAAGAAAGAAAGAAAGAAGGAAAGAAAGAA AGAAAG	CYP2A13	ENSG00000197838.5	transcript	ENST00000330436.4	protein_coding		4118		chr19	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATACATA others(33): Show CATACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	382	0.0026	40	c.491 others(55): Show c.491-128_491-127insCATATATATATATATATATATATATATATA TATATATATA	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(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01074.hp1 others(26): Show HG00621.hp1 HG00733.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01346.hp1 HG01346.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18973.hp2 NA18989.hp1 NA18992.hp2 NA19004.hp1 NA19030.hp1 NA19055.hp1 NA19079.hp1 NA19080.hp2 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0002c0002t0002 a0004c0006t0002	a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0137 others(19): Show a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0074 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0011g0067 a0002c0002t0002g0023 a0002c0002t0002g0088 a0004c0006t0002g0212	29	382	0.0759	40	c.491 others(55): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP2U1_chr4_107926549_107958461	107944842	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02074.hp2 NA18946.hp1 others(3): Show HG00597.hp1 HG02074.hp2 NA18946.hp1 NA18972.hp1 NA18978.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	6	382	0.0157	40	c.491 others(55): Show c.491-119_491-118insATATATATATATATATATATATATATATAT GTATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP39A1_chr6_46544580_46657818	46616230	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0032 a0004c0005t0001g0032	1	310	0.0032	40	c.931 others(57): Show c.931+9187_931+9188insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	7/11			chr6	TogoVar
CYP39A1_chr6_46544580_46657818	46616242	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	310	0.0032	40	c.931 others(57): Show c.931+9175_931+9176insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	7/11			chr6	TogoVar
CYP39A1_chr6_46544580_46657818	46616282	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp1 HG02897.hp2 others(2): Show HG02280.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0139	5	310	0.0161	40	c.931 others(57): Show c.931+9135_931+9136insGAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	7/11			chr6	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	C C	CAGAGGAA others(33): Show CAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0054 a0002c0013t0054	a0002c0013t0054g0084 a0002c0013t0054g0084	1	386	0.0026	40	c.199 others(57): Show c.199-1925_199-1924insCCTCACTCACTCATTCCTCTCCTCGCTC ACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	C C	CAGAGGAA others(33): Show CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0117 a0001c0002t0117	a0001c0002t0117g0241 a0001c0002t0117g0241	1	386	0.0026	40	c.199 others(57): Show c.199-1925_199-1924insCCTCACTCACTCATTCTTCTCCTCACTC ACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	C C	CAGAGGAA others(33): Show CAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	386	0.0026	40	c.199 others(57): Show c.199-1925_199-1924insCCTCGCTCACTCATTCCTCTCCTCACTC ACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931529	G G	GGAATGAG others(33): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0233 a0001c0002t0011g0233	1	386	0.0026	40	c.199 others(57): Show c.199-1929_199-1928insTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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