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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAPRIN1_chr11_34046731_34107610	34103735	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	246	0.0041	29	c.43 others(40): Show c.4368_*4369insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding					1126		chr11	TogoVar
CARD11_chr7_2901142_3048867	2909423	C C	CCTCTCAT others(22): Show CCTCTCATCCCTCCGCCCCTCGCCCCTCCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0262 a0001c0002t0011g0262	1	322	0.0031	29	c.326 others(46): Show c.3260+626_3260+627insCGGAGGGGCGAGGGGCGGAGGGATGAGA G		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24						chr7	TogoVar
CARD9_chr9_136358956_136378669	136378070	C C	CAGGGCCC others(22): Show CAGGGCCCTCGGCAGGCTGGGCGGGGCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	406	0.0025	29	c.-45 others(40): Show c.-4556_-4555insAAAGCCCCGCCCAGCCTGCCGAGGGCCCT		CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding					4402		chr9	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0303 a0001c0002t0002g0303	1	470	0.0021	29	c.31 others(40): Show c.3186_*3187insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding					969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(22): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0367 a0001c0001t0003g0367	1	470	0.0021	29	c.281 others(46): Show c.281+1086_281+1087insAAAAAAAAAAAAAAAAAAAAAACAAAAA A		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3						chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25450984	C C	CTCTCCCC others(22): Show CTCTCCCCTCTCCCCTCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01952.hp1 HG00140.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0002 a0001c0002t0005 a0001c0003t0002	a0001c0002t0005g0154 a0001c0003t0002g0059 a0001c0002t0005g0154 a0001c0003t0002g0059	2	186	0.0108	29	c.614 others(44): Show c.614+273_614+274insTCTCCCCTCTCCCCTCTCCCCTCTCCCCT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36						chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0177 a0001c0004t0012g0177	1	186	0.0054	29	c.206 others(46): Show c.2067+864_2067+892dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(22): Show GAGAAAGAAAGAAAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	372	0.0027	29	c.656 others(46): Show c.656-2471_656-2470insTCTCTCTCTCTCTCTCTTTCTTTCTTTC T		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CASC3_chr17_40135537_40177171	40140349	C C	CACACACA others(22): Show CACACACACACACACCAACACACACACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	266	0.0038	29	c.-20 others(38): Show c.-200_-199insACACACACACACACCAACACACACACCAA		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					187		chr17	TogoVar
CASP3_chr4_184622696_184654447	184651290	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	366	0.0027	29	c.-20 others(40): Show c.-2079_-2078insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					1844		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687836	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	406	0.0025	29	c.-1+ others(44): Show c.-1+7858_-1+7859insTTTCTTTCTTTCCTTTCTTTCTTTTCTTT		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6						chr10	TogoVar
CASP7_chr10_113674912_113735905	113687846	T T	TTTCTTTC others(22): Show TTTCTTTCCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	406	0.0025	29	c.-1+ others(44): Show c.-1+7870_-1+7871insCTTTCCTTTCTTTCTTTTCTTTCTTTCTT		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
CASR_chr3_122178668_122296629	122202480	G G	GGGGAGAG others(22): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03710.hp2 HG04204.hp1 HG03654.hp1 HG03710.hp2 HG04204.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0008 a0002c0002t0002 a0003c0004t0008	a0002c0002t0002g0168 a0002c0002t0002g0174 a0003c0004t0008g0169 a0002c0002t0002g0168 a0002c0002t0002g0174 a0003c0004t0008g0169	3	314	0.0096	29	c.-24 others(50): Show c.-243+18686_-243+18687insCCGTGGGGAGAGGGAGAGGGAGAG GGAGA		CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0007 a0004c0008t0007	a0004c0008t0007g0061 a0004c0008t0007g0061	1	358	0.0028	29	c.138 others(46): Show c.138+4778_138+4779insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAAGAA others(22): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03239.hp1 NA19088.hp1 HG01192.hp1 HG03239.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0002 a0002c0002t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0002	a0001c0003t0001g0073 a0001c0003t0002g0007 a0002c0002t0002g0148 a0001c0003t0001g0073 a0001c0003t0002g0007 a0002c0002t0002g0148	3	398	0.0075	29	c.52 others(40): Show c.5235_*5236insAAAAGAAAGAAAGAAAGAAAGAAAGAAAG		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding					4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91661548	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	271	0.0037	29	c.128 others(48): Show c.1288-1568_1288-1567insTATATATATATATATATATATATATA TAT		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26						chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0323 a0003c0004t0001g0323	1	336	0.0030	29	c.142 others(48): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT TTT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18983.hp2 HG00544.hp2 NA18983.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0004c0003t0001 a0002c0002t0001 a0004c0003t0001	a0002c0002t0001g0037 a0004c0003t0001g0117 a0002c0002t0001g0037 a0004c0003t0001g0117	2	336	0.0060	29	c.142 others(48): Show c.1428-1156_1428-1155insATATATATATATATATATATATTTTT TTT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02074.hp2 HG02071.hp1 HG02074.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0031 a0001c0001 a0013c0031	a0001c0001t0001 a0013c0031t0001 a0001c0001t0001 a0013c0031t0001	a0001c0001t0001g0268 a0013c0031t0001g0036 a0001c0001t0001g0268 a0013c0031t0001g0036	2	336	0.0060	29	c.142 others(48): Show c.1428-1156_1428-1155insATATATATATATATATATATTTTTTT TTT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	336	0.0030	29	c.142 others(48): Show c.1428-1156_1428-1155insATATATATATATATATATTTTTTTTT TTT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01070.hp1 others(2): Show HG00642.hp2 HG00735.hp1 HG01070.hp1 HG03491.hp1 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0137 a0001c0001t0001g0165 a0002c0002t0001g0238 others(2): Show a0001c0001t0001g0137 a0001c0001t0001g0165 a0002c0002t0001g0238 a0002c0002t0001g0276 a0002c0002t0001g0289	5	336	0.0149	29	c.150 others(46): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	206	0.0049	29	c.264 others(48): Show c.2648+7747_2648+7748insATATATATATATATATATATATATAT TTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	206	0.0049	29	c.264 others(48): Show c.2648+7747_2648+7748insATATATATATATATATTTTTTTTTTT TTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	206	0.0049	29	c.264 others(48): Show c.2648+7747_2648+7748insATATATATATATTTTTTTTTTTTTTT TTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38362379	T T	TACTACTT others(22): Show TACTACTTCTTCTTGGCGAGCAATTGGCGA	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0173 a0015c0020t0001g0173	1	376	0.0027	29	c.216 others(38): Show c.2163_2191dupCTACTTCTTCTTGGCGAGCAATTGGCGAA	p.Ser others(5): Show p.Ser731fs	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	19/29	2252/3691	2192/3480	731/1159		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	342	0.0029	29	c.195 others(46): Show c.195+7707_195+7708insATATATATATATATATATATATATATTT T		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	342	0.0029	29	c.195 others(46): Show c.195+7707_195+7708insATATATATATATATATATATTTTTTTTT T		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	342	0.0029	29	c.195 others(46): Show c.195+7707_195+7708insATATATATATATATATTTTTTTTTTTTT T		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19085.hp2 NA19010.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0277 a0001c0001t0001g0142 a0001c0001t0002g0277	2	342	0.0059	29	c.195 others(46): Show c.195+7707_195+7708insATATATATATATATTTTTTTTTTTTTTT T		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(22): Show ATATATATGTATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	342	0.0029	29	c.195 others(46): Show c.195+7707_195+7708insATATATGTATATATATATATATTTTTTT T		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV3_chr3_8728802_8751758	8746799	T T	TCACAACA others(22): Show TCACAACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0020 a0001c0006t0004g0020	1	476	0.0021	29	c.93 others(38): Show c.932_*933insCACAACACACACACACACACACACACACA		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding					42		chr3	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG04228.hp1 HG01517.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0252 a0001c0001t0001g0237 a0001c0001t0001g0252	2	298	0.0067	29	c.510 others(46): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621313	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	298	0.0034	29	c.510 others(46): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT G		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10						chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88961487	C C	CATAGTAA others(22): Show CATAGTAACCGACCCTAAACGCCTAGCGAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	284	0.0035	29	c.151 others(48): Show c.151+15169_151+15170insATCGCTAGGCGTTTAGGGTCGGTTAC TAT		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA20300.hp2 HG00423.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0156 a0002c0002t0001g0015 a0002c0002t0001g0156	2	424	0.0047	29	c.40 others(38): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding					356		chr21	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG01261.hp1 others(10): Show HG00642.hp2 HG01106.hp2 HG01261.hp1 HG01496.hp2 HG02071.hp1 HG02165.hp1 HG02257.hp2 NA18944.hp2 NA19001.hp1 NA19002.hp1 NA19057.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0011 a0024	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0008c0021 a0011c0015 a0024c0036	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0003c0004t0001 a0008c0021t0001 a0011c0015t0001 a0024c0036t0001	a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0001t0001g0201 others(10): Show a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0003t0001g0104 a0002c0002t0001g0007 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0199 a0003c0004t0001g0186 a0003c0004t0001g0202 a0008c0021t0001g0167 a0011c0015t0001g0013 a0024c0036t0001g0046	13	216	0.0602	29	c.126 others(46): Show c.1264-985_1264-984insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0084 a0001c0008t0001g0084	1	428	0.0023	29	c.21 others(40): Show c.2159_*2160insATATATATATATATATATATATATATATA		CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding					1839		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0227 a0002c0004t0001g0227	1	428	0.0023	29	c.21 others(40): Show c.2159_*2160insAAATATATATATATATATATATATATATA		CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding					1839		chr4	TogoVar
CCDC127_chr5_191868_223153	206214	T T	TACCACTG others(22): Show TACCACTGCTTTTCTTCTCCTCGCAAACCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(91): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03669.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18965.hp1 NA18970.hp2 NA18983.hp2 NA18985.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0007c0009	a0001c0001t0006 a0001c0001t0035 a0001c0001t0164 others(72): Show a0001c0001t0006 a0001c0001t0035 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0002t0014 a0001c0002t0015 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0203 a0001c0002t0205 a0001c0002t0206 a0001c0002t0207 a0001c0002t0208 a0001c0002t0209 a0001c0002t0210 a0001c0002t0211 a0001c0002t0212 a0001c0002t0213 a0001c0002t0214 a0001c0002t0215 a0001c0002t0216 a0001c0002t0217 a0001c0002t0218 a0001c0002t0219 a0001c0002t0220 a0001c0002t0221 a0001c0002t0222 a0001c0002t0223 a0001c0002t0224 a0001c0002t0225 a0001c0002t0226 a0001c0002t0227 a0001c0002t0228 a0001c0002t0229 a0001c0002t0230 a0001c0002t0231 a0001c0003t0038 a0001c0003t0039 a0001c0003t0040 a0001c0003t0041 a0001c0003t0187 a0001c0003t0188 a0001c0003t0189 a0001c0003t0190 a0001c0003t0191 a0001c0003t0192 a0001c0003t0193 a0001c0003t0194 a0001c0003t0195 a0001c0003t0196 a0001c0003t0197 a0001c0003t0198 a0001c0003t0199 a0001c0003t0200 a0001c0003t0201 a0001c0003t0202 a0002c0004t0179 a0002c0004t0180 a0002c0004t0181 a0002c0004t0182 a0002c0004t0183 a0002c0004t0184 a0002c0004t0185 a0007c0009t0204	a0001c0001t0006g0004 a0001c0001t0035g0016 a0001c0001t0164g0232 others(77): Show a0001c0001t0006g0004 a0001c0001t0035g0016 a0001c0001t0164g0232 a0001c0001t0165g0050 a0001c0001t0166g0047 a0001c0001t0167g0051 a0001c0001t0168g0048 a0001c0001t0169g0046 a0001c0001t0170g0052 a0001c0001t0171g0049 a0001c0001t0172g0053 a0001c0001t0173g0054 a0001c0002t0014g0258 a0001c0002t0014g0266 a0001c0002t0014g0273 a0001c0002t0015g0045 a0001c0002t0015g0292 a0001c0002t0042g0262 a0001c0002t0042g0275 a0001c0002t0043g0042 a0001c0002t0044g0044 a0001c0002t0045g0282 a0001c0002t0045g0285 a0001c0002t0046g0043 a0001c0002t0203g0263 a0001c0002t0205g0280 a0001c0002t0206g0272 a0001c0002t0207g0264 a0001c0002t0208g0279 a0001c0002t0209g0265 a0001c0002t0210g0259 a0001c0002t0211g0274 a0001c0002t0212g0260 a0001c0002t0213g0267 a0001c0002t0214g0261 a0001c0002t0215g0268 a0001c0002t0216g0287 a0001c0002t0217g0286 a0001c0002t0218g0269 a0001c0002t0219g0276 a0001c0002t0220g0277 a0001c0002t0221g0270 a0001c0002t0222g0281 a0001c0002t0223g0283 a0001c0002t0224g0256 a0001c0002t0225g0271 a0001c0002t0226g0284 a0001c0002t0227g0257 a0001c0002t0228g0288 a0001c0002t0229g0293 a0001c0002t0230g0290 a0001c0002t0231g0291 a0001c0003t0038g0039 a0001c0003t0039g0040 a0001c0003t0040g0038 a0001c0003t0041g0041 a0001c0003t0187g0241 a0001c0003t0188g0245 a0001c0003t0189g0253 a0001c0003t0190g0255 a0001c0003t0191g0252 a0001c0003t0192g0248 a0001c0003t0193g0240 a0001c0003t0194g0249 a0001c0003t0195g0254 a0001c0003t0196g0251 a0001c0003t0197g0247 a0001c0003t0198g0242 a0001c0003t0199g0243 a0001c0003t0200g0246 a0001c0003t0201g0244 a0001c0003t0202g0250 a0002c0004t0179g0234 a0002c0004t0180g0235 a0002c0004t0181g0236 a0002c0004t0182g0237 a0002c0004t0183g0238 a0002c0004t0184g0239 a0002c0004t0185g0233 a0007c0009t0204g0278	94	406	0.2315	29	c.122 others(44): Show c.122-257_122-256insGGGTTTGCGAGGAGAAGAAAAGCAGTGGT		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	354	0.0028	29	c.97- others(46): Show c.97-10734_97-10733insATATATTTTTTTTTTTTTTTTTTTTTTT T		CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6						chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18946.hp1 HG00558.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0257 a0001c0001t0001g0036 a0001c0001t0002g0257	2	354	0.0057	29	c.97- others(46): Show c.97-10734_97-10733insATATATATTTTTTTTTTTTTTTTTTTTT T		CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6						chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp2 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0254 a0001c0001t0002g0186 a0001c0001t0002g0254	2	354	0.0057	29	c.97- others(46): Show c.97-10734_97-10733insATATATATATTTTTTTTTTTTTTTTTTT T		CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6						chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03654.hp1 NA18953.hp2 HG02922.hp2 HG03654.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0336 a0001c0001t0002g0277 a0001c0001t0002g0282 a0001c0001t0001g0336 a0001c0001t0002g0277 a0001c0001t0002g0282	3	354	0.0085	29	c.97- others(46): Show c.97-10734_97-10733insATATATATATATATATTTTTTTTTTTTT T		CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6						chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01167.hp1 HG01346.hp2 others(2): Show HG00621.hp2 HG01167.hp1 HG01346.hp2 NA18972.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0176 a0001c0001t0002g0219 others(2): Show a0001c0001t0002g0162 a0001c0001t0002g0176 a0001c0001t0002g0219 a0001c0001t0002g0228 a0001c0001t0002g0229	5	354	0.0141	29	c.97- others(46): Show c.97-10734_97-10733insATATATATATATATATATTTTTTTTTTT T		CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6						chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	354	0.0028	29	c.97- others(46): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT T		CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6						chr3	TogoVar
CCDC138_chr2_108781771_108881578	108811247	C C	CTCTTTTT others(22): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG01169.hp2 others(8): Show HG00738.hp1 HG01168.hp2 HG01169.hp2 HG02717.hp2 HG04199.hp2 NA18968.hp2 NA18984.hp2 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19081.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0195 a0003c0003t0001g0140 a0003c0003t0001g0145 others(8): Show a0002c0002t0001g0195 a0003c0003t0001g0140 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0161	11	220	0.0500	29	c.856 others(46): Show c.856-1383_856-1382insCTTTTTTTTTTTTTTTTTTTTTTTTTTT T		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC15_chr11_124949202_125046489	125045125	G G	GGAAATAT others(22): Show GGAAATATCTGAGTACAGCTTACCTGTCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	350	0.0029	29	c.44 others(40): Show c.4414_*4415insGAAATATCTGAGTACAGCTTACCTGTCGA		CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding					3637		chr11	TogoVar
CCDC171_chr9_15548043_15979037	15610444	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0032 a0006c0006t0003g0032	1	266	0.0038	29	c.676 others(48): Show c.676-12814_676-12786dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15677925	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0002 a0018c0019t0002	a0018c0019t0002g0102 a0018c0019t0002g0102	1	266	0.0038	29	c.107 others(46): Show c.1077-832_1077-831insTATATATATATATATATATATATATATA A		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	9/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15730233	G G	GCTGATAT others(22): Show GCTGATATTATATAAGGTTATATTATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG02809.hp1 others(1): Show HG02258.hp2 HG02723.hp2 HG02809.hp1 HG03139.hp2	a0005 a0005	a0005c0005 a0005c0009 a0005c0005 a0005c0009	a0005c0005t0005 a0005c0009t0005 a0005c0005t0005 a0005c0009t0005	a0005c0005t0005g0245 a0005c0005t0005g0246 a0005c0009t0005g0247 others(1): Show a0005c0005t0005g0245 a0005c0005t0005g0246 a0005c0009t0005g0247 a0005c0009t0005g0248	4	266	0.0150	29	c.204 others(46): Show c.2049+457_2049+485dupTTATATAACTGATATTATATAAGGTTAT A		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr9	TogoVar

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